Skip to main content
Erschienen in: Journal of Assisted Reproduction and Genetics 9/2011

01.09.2011 | Genetics

Preimplantation genetic screening: does it help or hinder IVF treatment and what is the role of the embryo?

verfasst von: Kim Dao Ly, Ashok Agarwal, Zsolt Peter Nagy

Erschienen in: Journal of Assisted Reproduction and Genetics | Ausgabe 9/2011

Einloggen, um Zugang zu erhalten

Abstract

Despite an ongoing debate over its efficacy, preimplantation genetic screening (PGS) is increasingly being used to detect numerical chromosomal abnormalities in embryos to improve implantation rates after IVF. The main indications for the use of PGS in IVF treatments include advanced maternal age, repeated implantation failure, and recurrent pregnancy loss. The success of PGS is highly dependent on technical competence, embryo culture quality, and the presence of mosaicism in preimplantation embryos. Today, cleavage stage biopsy is the most commonly used method for screening preimplantation embryos for aneuploidy. However, blastocyst biopsy is rapidly becoming the more preferred method due to a decreased likelihood of mosaicism and an increase in the amount of DNA available for testing. Instead of using 9 to 12 chromosome FISH, a 24 chromosome detection by aCGH or SNP microarray will be used. Thus, it is advised that before attempting to perform PGS and expecting any benefit, extended embryo culture towards day 5/6 should be established and proven and the clinical staff should demonstrate competence with routine competency assessments. A properly designed randomized control trial is needed to test the potential benefits of these new developments.
Literatur
1.
Zurück zum Zitat Handyside AH et al. Pregnancies from biopsied human preimplantation embryos sexed by Y-specific DNA amplification. Nature. 1990;344(6268):768–70.PubMedCrossRef Handyside AH et al. Pregnancies from biopsied human preimplantation embryos sexed by Y-specific DNA amplification. Nature. 1990;344(6268):768–70.PubMedCrossRef
2.
Zurück zum Zitat Verlinsky Y et al. Analysis of the first polar body: preconception genetic diagnosis. Hum Reprod. 1990;5(7):826–9.PubMed Verlinsky Y et al. Analysis of the first polar body: preconception genetic diagnosis. Hum Reprod. 1990;5(7):826–9.PubMed
3.
Zurück zum Zitat Grifo JA et al. Preimplantation genetic diagnosis. In situ hybridization as a tool for analysis. Arch Pathol Lab Med. 1992;116(4):393–7.PubMed Grifo JA et al. Preimplantation genetic diagnosis. In situ hybridization as a tool for analysis. Arch Pathol Lab Med. 1992;116(4):393–7.PubMed
4.
Zurück zum Zitat Xu K et al. First unaffected pregnancy using preimplantation genetic diagnosis for sickle cell anemia. JAMA. 1999;281(18):1701–6.PubMedCrossRef Xu K et al. First unaffected pregnancy using preimplantation genetic diagnosis for sickle cell anemia. JAMA. 1999;281(18):1701–6.PubMedCrossRef
5.
Zurück zum Zitat Munne S et al. Assessment of numeric abnormalities of X, Y, 18, and 16 chromosomes in preimplantation human embryos before transfer. Am J Obstet Gynecol. 1995;172(4 Pt 1):1191–9. discussion 1199–201.PubMedCrossRef Munne S et al. Assessment of numeric abnormalities of X, Y, 18, and 16 chromosomes in preimplantation human embryos before transfer. Am J Obstet Gynecol. 1995;172(4 Pt 1):1191–9. discussion 1199–201.PubMedCrossRef
6.
Zurück zum Zitat Munne S et al. Improved implantation after preimplantation genetic diagnosis of aneuploidy. Reprod Biomed Online. 2003;7(1):91–7.PubMedCrossRef Munne S et al. Improved implantation after preimplantation genetic diagnosis of aneuploidy. Reprod Biomed Online. 2003;7(1):91–7.PubMedCrossRef
7.
Zurück zum Zitat Verlinsky Y, Kuliev A. Preimplantation diagnosis for diseases with genetic predisposition and nondisease testing. Expert Rev Mol Diagn. 2002;2(5):509–13.PubMedCrossRef Verlinsky Y, Kuliev A. Preimplantation diagnosis for diseases with genetic predisposition and nondisease testing. Expert Rev Mol Diagn. 2002;2(5):509–13.PubMedCrossRef
8.
Zurück zum Zitat Verlinsky Y et al. Preimplantation diagnosis for Fanconi anemia combined with HLA matching. JAMA. 2001;285(24):3130–3.PubMedCrossRef Verlinsky Y et al. Preimplantation diagnosis for Fanconi anemia combined with HLA matching. JAMA. 2001;285(24):3130–3.PubMedCrossRef
9.
Zurück zum Zitat Griffin DK. The incidence, origin, and etiology of aneuploidy. Int Rev Cytol. 1996;167:263–96.PubMedCrossRef Griffin DK. The incidence, origin, and etiology of aneuploidy. Int Rev Cytol. 1996;167:263–96.PubMedCrossRef
10.
Zurück zum Zitat Munne S et al. Maternal age, morphology, development and chromosome abnormalities in over 6000 cleavage-stage embryos. Reprod Biomed Online. 2007;14(5):628–34.PubMedCrossRef Munne S et al. Maternal age, morphology, development and chromosome abnormalities in over 6000 cleavage-stage embryos. Reprod Biomed Online. 2007;14(5):628–34.PubMedCrossRef
11.
Zurück zum Zitat Sandalinas M et al. Developmental ability of chromosomally abnormal human embryos to develop to the blastocyst stage. Hum Reprod. 2001;16(9):1954–8.PubMedCrossRef Sandalinas M et al. Developmental ability of chromosomally abnormal human embryos to develop to the blastocyst stage. Hum Reprod. 2001;16(9):1954–8.PubMedCrossRef
12.
Zurück zum Zitat Alfarawati S et al. The relationship between blastocyst morphology, chromosomal abnormality, and embryo gender. Fertil Steril. 2011;95(2):520–4.PubMedCrossRef Alfarawati S et al. The relationship between blastocyst morphology, chromosomal abnormality, and embryo gender. Fertil Steril. 2011;95(2):520–4.PubMedCrossRef
13.
Zurück zum Zitat Li M et al. Fluorescence in situ hybridization reanalysis of day-6 human blastocysts diagnosed with aneuploidy on day 3. Fertil Steril. 2005;84(5):1395–400.PubMedCrossRef Li M et al. Fluorescence in situ hybridization reanalysis of day-6 human blastocysts diagnosed with aneuploidy on day 3. Fertil Steril. 2005;84(5):1395–400.PubMedCrossRef
14.
Zurück zum Zitat Munne S. Chromosome abnormalities and their relationship to morphology and development of human embryos. Reprod Biomed Online. 2006;12(2):234–53.PubMedCrossRef Munne S. Chromosome abnormalities and their relationship to morphology and development of human embryos. Reprod Biomed Online. 2006;12(2):234–53.PubMedCrossRef
15.
Zurück zum Zitat Baruch S, Kaufman D, Hudson KL. Genetic testing of embryos: practices and perspectives of US in vitro fertilization clinics. Fertil Steril. 2008;89(5):1053–8.PubMedCrossRef Baruch S, Kaufman D, Hudson KL. Genetic testing of embryos: practices and perspectives of US in vitro fertilization clinics. Fertil Steril. 2008;89(5):1053–8.PubMedCrossRef
16.
Zurück zum Zitat Goossens V et al. ESHRE PGD consortium data collection IX: cycles from January to December 2006 with pregnancy follow-up to October 2007. Hum Reprod. 2009;24(8):1786–810.PubMedCrossRef Goossens V et al. ESHRE PGD consortium data collection IX: cycles from January to December 2006 with pregnancy follow-up to October 2007. Hum Reprod. 2009;24(8):1786–810.PubMedCrossRef
17.
Zurück zum Zitat Munne S et al. Diagnosis of major chromosome aneuploidies in human preimplantation embryos. Hum Reprod. 1993;8(12):2185–91.PubMed Munne S et al. Diagnosis of major chromosome aneuploidies in human preimplantation embryos. Hum Reprod. 1993;8(12):2185–91.PubMed
18.
Zurück zum Zitat Munne S et al. The use of first polar bodies for preimplantation diagnosis of aneuploidy. Hum Reprod. 1995;10(4):1014–20.PubMed Munne S et al. The use of first polar bodies for preimplantation diagnosis of aneuploidy. Hum Reprod. 1995;10(4):1014–20.PubMed
19.
Zurück zum Zitat Verlinsky Y et al. Birth of healthy children after preimplantation diagnosis of common aneuploidies by polar body fluorescent in situ hybridization analysis. Preimplantation Genetics Group. Fertil Steril. 1996;66(1):126–9.PubMed Verlinsky Y et al. Birth of healthy children after preimplantation diagnosis of common aneuploidies by polar body fluorescent in situ hybridization analysis. Preimplantation Genetics Group. Fertil Steril. 1996;66(1):126–9.PubMed
20.
Zurück zum Zitat Munne S et al. Preimplantation genetic diagnosis significantly reduces pregnancy loss in infertile couples: a multicenter study. Fertil Steril. 2006;85(2):326–32.PubMedCrossRef Munne S et al. Preimplantation genetic diagnosis significantly reduces pregnancy loss in infertile couples: a multicenter study. Fertil Steril. 2006;85(2):326–32.PubMedCrossRef
21.
Zurück zum Zitat Munne S et al. Positive outcome after preimplantation diagnosis of aneuploidy in human embryos. Hum Reprod. 1999;14(9):2191–9.PubMedCrossRef Munne S et al. Positive outcome after preimplantation diagnosis of aneuploidy in human embryos. Hum Reprod. 1999;14(9):2191–9.PubMedCrossRef
22.
Zurück zum Zitat Gianaroli L et al. Preimplantation diagnosis for aneuploidies in patients undergoing in vitro fertilization with a poor prognosis: identification of the categories for which it should be proposed. Fertil Steril. 1999;72(5):837–44.PubMedCrossRef Gianaroli L et al. Preimplantation diagnosis for aneuploidies in patients undergoing in vitro fertilization with a poor prognosis: identification of the categories for which it should be proposed. Fertil Steril. 1999;72(5):837–44.PubMedCrossRef
23.
Zurück zum Zitat Munne S et al. Preimplantation genetic diagnosis reduces pregnancy loss in women aged 35 years and older with a history of recurrent miscarriages. Fertil Steril. 2005;84(2):331–5.PubMedCrossRef Munne S et al. Preimplantation genetic diagnosis reduces pregnancy loss in women aged 35 years and older with a history of recurrent miscarriages. Fertil Steril. 2005;84(2):331–5.PubMedCrossRef
24.
Zurück zum Zitat Colls P et al. Increased efficiency of preimplantation genetic diagnosis for infertility using “no result rescue”. Fertil Steril. 2007;88(1):53–61.PubMedCrossRef Colls P et al. Increased efficiency of preimplantation genetic diagnosis for infertility using “no result rescue”. Fertil Steril. 2007;88(1):53–61.PubMedCrossRef
25.
Zurück zum Zitat McArthur SJ et al. Pregnancies and live births after trophectoderm biopsy and preimplantation genetic testing of human blastocysts. Fertil Steril. 2005;84(6):1628–36.PubMedCrossRef McArthur SJ et al. Pregnancies and live births after trophectoderm biopsy and preimplantation genetic testing of human blastocysts. Fertil Steril. 2005;84(6):1628–36.PubMedCrossRef
26.
Zurück zum Zitat Schoolcraft WB, et al. Clinical application of comprehensive chromosomal screening at the blastocyst stage. Fertil Steril. 2009 Schoolcraft WB, et al. Clinical application of comprehensive chromosomal screening at the blastocyst stage. Fertil Steril. 2009
27.
Zurück zum Zitat Adamson D, Baker V. Multiple births from assisted reproductive technologies: a challenge that must be met. Fertil Steril. 2004;81(3):517–22. discussion 526.PubMedCrossRef Adamson D, Baker V. Multiple births from assisted reproductive technologies: a challenge that must be met. Fertil Steril. 2004;81(3):517–22. discussion 526.PubMedCrossRef
28.
Zurück zum Zitat Tiitinen A et al. Elective single embryo transfer: the value of cryopreservation. Hum Reprod. 2001;16(6):1140–4.PubMedCrossRef Tiitinen A et al. Elective single embryo transfer: the value of cryopreservation. Hum Reprod. 2001;16(6):1140–4.PubMedCrossRef
30.
Zurück zum Zitat Varghese AC, Nagy ZP, Agarwal A. Current trends, biological foundations and future prospects of oocyte and embryo cryopreservation. Reprod Biomed Online. 2009;19(1):126–40.PubMedCrossRef Varghese AC, Nagy ZP, Agarwal A. Current trends, biological foundations and future prospects of oocyte and embryo cryopreservation. Reprod Biomed Online. 2009;19(1):126–40.PubMedCrossRef
31.
Zurück zum Zitat Stillman RJ et al. Elective single embryo transfer: a 6-year progressive implementation of 784 single blastocyst transfers and the influence of payment method on patient choice. Fertil Steril. 2009;92(6):1895–906.PubMedCrossRef Stillman RJ et al. Elective single embryo transfer: a 6-year progressive implementation of 784 single blastocyst transfers and the influence of payment method on patient choice. Fertil Steril. 2009;92(6):1895–906.PubMedCrossRef
32.
Zurück zum Zitat Leese B, Denton J. Attitudes towards single embryo transfer, twin and higher order pregnancies in patients undergoing infertility treatment: a review. Hum Fertil (Camb). 2010;13(1):28–34.CrossRef Leese B, Denton J. Attitudes towards single embryo transfer, twin and higher order pregnancies in patients undergoing infertility treatment: a review. Hum Fertil (Camb). 2010;13(1):28–34.CrossRef
33.
Zurück zum Zitat Pinborg A et al. Morbidity in a Danish national cohort of 472 IVF/ICSI twins, 1132 non-IVF/ICSI twins and 634 IVF/ICSI singletons: health-related and social implications for the children and their families. Hum Reprod. 2003;18(6):1234–43.PubMedCrossRef Pinborg A et al. Morbidity in a Danish national cohort of 472 IVF/ICSI twins, 1132 non-IVF/ICSI twins and 634 IVF/ICSI singletons: health-related and social implications for the children and their families. Hum Reprod. 2003;18(6):1234–43.PubMedCrossRef
34.
Zurück zum Zitat Stromberg B et al. Neurological sequelae in children born after in-vitro fertilisation: a population-based study. Lancet. 2002;359(9305):461–5.PubMedCrossRef Stromberg B et al. Neurological sequelae in children born after in-vitro fertilisation: a population-based study. Lancet. 2002;359(9305):461–5.PubMedCrossRef
35.
Zurück zum Zitat Gelbaya TA, Tsoumpou I, Nardo LG. The likelihood of live birth and multiple birth after single versus double embryo transfer at the cleavage stage: a systematic review and meta-analysis. Fertil Steril. 2009 Gelbaya TA, Tsoumpou I, Nardo LG. The likelihood of live birth and multiple birth after single versus double embryo transfer at the cleavage stage: a systematic review and meta-analysis. Fertil Steril. 2009
36.
Zurück zum Zitat Munne S et al. Differences in chromosome susceptibility to aneuploidy and survival to first trimester. Reprod Biomed Online. 2004;8(1):81–90.PubMedCrossRef Munne S et al. Differences in chromosome susceptibility to aneuploidy and survival to first trimester. Reprod Biomed Online. 2004;8(1):81–90.PubMedCrossRef
37.
Zurück zum Zitat Silber S et al. Chromosomal abnormalities in embryos derived from testicular sperm extraction. Fertil Steril. 2003;79(1):30–8.PubMedCrossRef Silber S et al. Chromosomal abnormalities in embryos derived from testicular sperm extraction. Fertil Steril. 2003;79(1):30–8.PubMedCrossRef
38.
Zurück zum Zitat Platteau P et al. Comparison of the aneuploidy frequency in embryos derived from testicular sperm extraction in obstructive and non-obstructive azoospermic men. Hum Reprod. 2004;19(7):1570–4.PubMedCrossRef Platteau P et al. Comparison of the aneuploidy frequency in embryos derived from testicular sperm extraction in obstructive and non-obstructive azoospermic men. Hum Reprod. 2004;19(7):1570–4.PubMedCrossRef
39.
Zurück zum Zitat Donoso P et al. Does PGD for aneuploidy screening change the selection of embryos derived from testicular sperm extraction in obstructive and non-obstructive azoospermic men? Hum Reprod. 2006;21(9):2390–5.PubMedCrossRef Donoso P et al. Does PGD for aneuploidy screening change the selection of embryos derived from testicular sperm extraction in obstructive and non-obstructive azoospermic men? Hum Reprod. 2006;21(9):2390–5.PubMedCrossRef
40.
Zurück zum Zitat Munne S et al. Wide range of chromosome abnormalities in the embryos of young egg donors. Reprod Biomed Online. 2006;12(3):340–6.PubMedCrossRef Munne S et al. Wide range of chromosome abnormalities in the embryos of young egg donors. Reprod Biomed Online. 2006;12(3):340–6.PubMedCrossRef
41.
Zurück zum Zitat Jones KT. Meiosis in oocytes: predisposition to aneuploidy and its increased incidence with age. Hum Reprod Update. 2008;14(2):143–58.PubMedCrossRef Jones KT. Meiosis in oocytes: predisposition to aneuploidy and its increased incidence with age. Hum Reprod Update. 2008;14(2):143–58.PubMedCrossRef
42.
Zurück zum Zitat Oliver TR et al. New insights into human nondisjunction of chromosome 21 in oocytes. PLoS Genet. 2008;4(3):e1000033.PubMedCrossRef Oliver TR et al. New insights into human nondisjunction of chromosome 21 in oocytes. PLoS Genet. 2008;4(3):e1000033.PubMedCrossRef
43.
Zurück zum Zitat Kuliev A, Verlinsky Y. Current features of preimplantation genetic diagnosis. Reprod Biomed Online. 2002;5(3):294–9.PubMedCrossRef Kuliev A, Verlinsky Y. Current features of preimplantation genetic diagnosis. Reprod Biomed Online. 2002;5(3):294–9.PubMedCrossRef
44.
Zurück zum Zitat Angell R. First-meiotic-division nondisjunction in human oocytes. Am J Hum Genet. 1997;61(1):23–32.PubMedCrossRef Angell R. First-meiotic-division nondisjunction in human oocytes. Am J Hum Genet. 1997;61(1):23–32.PubMedCrossRef
46.
Zurück zum Zitat Angell RR. Predivision in human oocytes at meiosis I: a mechanism for trisomy formation in man. Hum Genet. 1991;86(4):383–7.PubMedCrossRef Angell RR. Predivision in human oocytes at meiosis I: a mechanism for trisomy formation in man. Hum Genet. 1991;86(4):383–7.PubMedCrossRef
47.
Zurück zum Zitat Vialard F et al. Evidence of a high proportion of premature unbalanced separation of sister chromatids in the first polar bodies of women of advanced age. Hum Reprod. 2006;21(5):1172–8.PubMedCrossRef Vialard F et al. Evidence of a high proportion of premature unbalanced separation of sister chromatids in the first polar bodies of women of advanced age. Hum Reprod. 2006;21(5):1172–8.PubMedCrossRef
48.
Zurück zum Zitat Rosenbusch BE, Schneider M. Cytogenetic analysis of human oocytes remaining unfertilized after intracytoplasmic sperm injection. Fertil Steril. 2006;85(2):302–7.PubMedCrossRef Rosenbusch BE, Schneider M. Cytogenetic analysis of human oocytes remaining unfertilized after intracytoplasmic sperm injection. Fertil Steril. 2006;85(2):302–7.PubMedCrossRef
49.
Zurück zum Zitat Fragouli E et al. Comparative genomic hybridization analysis of human oocytes and polar bodies. Hum Reprod. 2006;21(9):2319–28.PubMedCrossRef Fragouli E et al. Comparative genomic hybridization analysis of human oocytes and polar bodies. Hum Reprod. 2006;21(9):2319–28.PubMedCrossRef
50.
Zurück zum Zitat Dailey T et al. Association between nondisjunction and maternal age in meiosis-II human oocytes. Am J Hum Genet. 1996;59(1):176–84.PubMed Dailey T et al. Association between nondisjunction and maternal age in meiosis-II human oocytes. Am J Hum Genet. 1996;59(1):176–84.PubMed
51.
Zurück zum Zitat Delhanty JD. Mechanisms of aneuploidy induction in human oogenesis and early embryogenesis. Cytogenet Genome Res. 2005;111(3–4):237–44.PubMedCrossRef Delhanty JD. Mechanisms of aneuploidy induction in human oogenesis and early embryogenesis. Cytogenet Genome Res. 2005;111(3–4):237–44.PubMedCrossRef
52.
Zurück zum Zitat Nagy ZP. Sperm centriole disfunction and sperm immotility. Mol Cell Endocrinol. 2000;166(1):59–62.PubMedCrossRef Nagy ZP. Sperm centriole disfunction and sperm immotility. Mol Cell Endocrinol. 2000;166(1):59–62.PubMedCrossRef
53.
Zurück zum Zitat Sathananthan AH et al. Centrioles in the beginning of human development. Proc Natl Acad Sci U S A. 1991;88(11):4806–10.PubMedCrossRef Sathananthan AH et al. Centrioles in the beginning of human development. Proc Natl Acad Sci U S A. 1991;88(11):4806–10.PubMedCrossRef
54.
Zurück zum Zitat Obasaju M et al. Sperm quality may adversely affect the chromosome constitution of embryos that result from intracytoplasmic sperm injection. Fertil Steril. 1999;72(6):1113–5.PubMedCrossRef Obasaju M et al. Sperm quality may adversely affect the chromosome constitution of embryos that result from intracytoplasmic sperm injection. Fertil Steril. 1999;72(6):1113–5.PubMedCrossRef
55.
Zurück zum Zitat Leduc F, Nkoma GB, Boissonneault G. Spermiogenesis and DNA repair: a possible etiology of human infertility and genetic disorders. Syst Biol Reprod Med. 2008;54(1):3–10.PubMedCrossRef Leduc F, Nkoma GB, Boissonneault G. Spermiogenesis and DNA repair: a possible etiology of human infertility and genetic disorders. Syst Biol Reprod Med. 2008;54(1):3–10.PubMedCrossRef
56.
Zurück zum Zitat Munne S et al. Embryo morphology, developmental rates, and maternal age are correlated with chromosome abnormalities. Fertil Steril. 1995;64(2):382–91.PubMed Munne S et al. Embryo morphology, developmental rates, and maternal age are correlated with chromosome abnormalities. Fertil Steril. 1995;64(2):382–91.PubMed
57.
Zurück zum Zitat Marquez C et al. Chromosome abnormalities in 1255 cleavage-stage human embryos. Reprod Biomed Online. 2000;1(1):17–26.PubMedCrossRef Marquez C et al. Chromosome abnormalities in 1255 cleavage-stage human embryos. Reprod Biomed Online. 2000;1(1):17–26.PubMedCrossRef
58.
59.
Zurück zum Zitat Wells D et al. First clinical application of comparative genomic hybridization and polar body testing for preimplantation genetic diagnosis of aneuploidy. Fertil Steril. 2002;78(3):543–9.PubMedCrossRef Wells D et al. First clinical application of comparative genomic hybridization and polar body testing for preimplantation genetic diagnosis of aneuploidy. Fertil Steril. 2002;78(3):543–9.PubMedCrossRef
60.
Zurück zum Zitat Voullaire L et al. Chromosome analysis of blastomeres from human embryos by using comparative genomic hybridization. Hum Genet. 2000;106(2):210–7.PubMedCrossRef Voullaire L et al. Chromosome analysis of blastomeres from human embryos by using comparative genomic hybridization. Hum Genet. 2000;106(2):210–7.PubMedCrossRef
61.
Zurück zum Zitat Munne S et al. Self-correction of chromosomally abnormal embryos in culture and implications for stem cell production. Fertil Steril. 2005;84(5):1328–34.PubMedCrossRef Munne S et al. Self-correction of chromosomally abnormal embryos in culture and implications for stem cell production. Fertil Steril. 2005;84(5):1328–34.PubMedCrossRef
62.
Zurück zum Zitat Powis Z, Erickson RP. Uniparental disomy and the phenotype of mosaic trisomy 20: a new case and review of the literature. J Appl Genet. 2009;50(3):293–6.PubMedCrossRef Powis Z, Erickson RP. Uniparental disomy and the phenotype of mosaic trisomy 20: a new case and review of the literature. J Appl Genet. 2009;50(3):293–6.PubMedCrossRef
63.
Zurück zum Zitat Rieubland C et al. Two cases of trisomy 16 mosaicism ascertained postnatally. Am J Med Genet A. 2009;149A(7):1523–8.PubMedCrossRef Rieubland C et al. Two cases of trisomy 16 mosaicism ascertained postnatally. Am J Med Genet A. 2009;149A(7):1523–8.PubMedCrossRef
64.
Zurück zum Zitat Lightfoot DA et al. The fate of mosaic aneuploid embryos during mouse development. Dev Biol. 2006;289(2):384–94.PubMedCrossRef Lightfoot DA et al. The fate of mosaic aneuploid embryos during mouse development. Dev Biol. 2006;289(2):384–94.PubMedCrossRef
65.
Zurück zum Zitat Kanka J et al. Identification of differentially expressed mRNAs in bovine preimplantation embryos. Zygote. 2003;11(1):43–52.PubMedCrossRef Kanka J et al. Identification of differentially expressed mRNAs in bovine preimplantation embryos. Zygote. 2003;11(1):43–52.PubMedCrossRef
66.
Zurück zum Zitat Lucifero D, Chaillet JR, Trasler JM. Potential significance of genomic imprinting defects for reproduction and assisted reproductive technology. Hum Reprod Update. 2004;10(1):3–18.PubMedCrossRef Lucifero D, Chaillet JR, Trasler JM. Potential significance of genomic imprinting defects for reproduction and assisted reproductive technology. Hum Reprod Update. 2004;10(1):3–18.PubMedCrossRef
67.
Zurück zum Zitat Ledbetter DH, Engel E. Uniparental disomy in humans: development of an imprinting map and its implications for prenatal diagnosis. Hum Mol Genet. 1995;4 Spec No:1757–64.PubMed Ledbetter DH, Engel E. Uniparental disomy in humans: development of an imprinting map and its implications for prenatal diagnosis. Hum Mol Genet. 1995;4 Spec No:1757–64.PubMed
68.
Zurück zum Zitat Coonen E et al. Anaphase lagging mainly explains chromosomal mosaicism in human preimplantation embryos. Hum Reprod. 2004;19(2):316–24.PubMedCrossRef Coonen E et al. Anaphase lagging mainly explains chromosomal mosaicism in human preimplantation embryos. Hum Reprod. 2004;19(2):316–24.PubMedCrossRef
69.
Zurück zum Zitat Spence JE et al. Uniparental disomy as a mechanism for human genetic disease. Am J Hum Genet. 1988;42(2):217–26.PubMed Spence JE et al. Uniparental disomy as a mechanism for human genetic disease. Am J Hum Genet. 1988;42(2):217–26.PubMed
70.
Zurück zum Zitat Barbash-Hazan S, et al. Preimplantation aneuploid embryos undergo self-correction in correlation with their developmental potential. Fertil Steril. 2008 Barbash-Hazan S, et al. Preimplantation aneuploid embryos undergo self-correction in correlation with their developmental potential. Fertil Steril. 2008
71.
Zurück zum Zitat Northrop LE et al. SNP microarray-based 24 chromosome aneuploidy screening demonstrates that cleavage-stage FISH poorly predicts aneuploidy in embryos that develop to morphologically normal blastocysts. Mol Hum Reprod. 2010;16(8):590–600.PubMedCrossRef Northrop LE et al. SNP microarray-based 24 chromosome aneuploidy screening demonstrates that cleavage-stage FISH poorly predicts aneuploidy in embryos that develop to morphologically normal blastocysts. Mol Hum Reprod. 2010;16(8):590–600.PubMedCrossRef
72.
Zurück zum Zitat Fragouli E et al. Comprehensive molecular cytogenetic analysis of the human blastocyst stage. Hum Reprod. 2008;23(11):2596–608.PubMedCrossRef Fragouli E et al. Comprehensive molecular cytogenetic analysis of the human blastocyst stage. Hum Reprod. 2008;23(11):2596–608.PubMedCrossRef
73.
Zurück zum Zitat Weghofer A et al. Lack of association between polycystic ovary syndrome and embryonic aneuploidy. Fertil Steril. 2007;88(4):900–5.PubMedCrossRef Weghofer A et al. Lack of association between polycystic ovary syndrome and embryonic aneuploidy. Fertil Steril. 2007;88(4):900–5.PubMedCrossRef
74.
Zurück zum Zitat Gogusev J et al. Detection of DNA copy number changes in human endometriosis by comparative genomic hybridization. Hum Genet. 1999;105(5):444–51.PubMedCrossRef Gogusev J et al. Detection of DNA copy number changes in human endometriosis by comparative genomic hybridization. Hum Genet. 1999;105(5):444–51.PubMedCrossRef
75.
Zurück zum Zitat Massie JA et al. Ovarian stimulation and the risk of aneuploid conceptions. Fertil Steril. 2011;95(3):970–2.PubMedCrossRef Massie JA et al. Ovarian stimulation and the risk of aneuploid conceptions. Fertil Steril. 2011;95(3):970–2.PubMedCrossRef
76.
Zurück zum Zitat Terada Y, et al. Different embryonic development after blastomere biopsy for preimplantation genetic diagnosis, observed by time-lapse imaging. Fertil Steril. 2009 Terada Y, et al. Different embryonic development after blastomere biopsy for preimplantation genetic diagnosis, observed by time-lapse imaging. Fertil Steril. 2009
77.
Zurück zum Zitat Baart EB et al. Milder ovarian stimulation for in-vitro fertilization reduces aneuploidy in the human preimplantation embryo: a randomized controlled trial. Hum Reprod. 2007;22(4):980–8.PubMedCrossRef Baart EB et al. Milder ovarian stimulation for in-vitro fertilization reduces aneuploidy in the human preimplantation embryo: a randomized controlled trial. Hum Reprod. 2007;22(4):980–8.PubMedCrossRef
78.
Zurück zum Zitat Weghofer A, et al. The impact of LH-containing gonadotropin stimulation on euploidy rates in preimplantation embryos: antagonist cycles. Fertil Steril. 2008 Weghofer A, et al. The impact of LH-containing gonadotropin stimulation on euploidy rates in preimplantation embryos: antagonist cycles. Fertil Steril. 2008
79.
Zurück zum Zitat Weghofer A et al. The impact of LH-containing gonadotropins on diploidy rates in preimplantation embryos: long protocol stimulation. Hum Reprod. 2008;23(3):499–503.PubMedCrossRef Weghofer A et al. The impact of LH-containing gonadotropins on diploidy rates in preimplantation embryos: long protocol stimulation. Hum Reprod. 2008;23(3):499–503.PubMedCrossRef
80.
Zurück zum Zitat Chappel SC, Howles C. Reevaluation of the roles of luteinizing hormone and follicle-stimulating hormone in the ovulatory process. Hum Reprod. 1991;6(9):1206–12.PubMed Chappel SC, Howles C. Reevaluation of the roles of luteinizing hormone and follicle-stimulating hormone in the ovulatory process. Hum Reprod. 1991;6(9):1206–12.PubMed
81.
Zurück zum Zitat Fleming R et al. Effects of profound suppression of luteinizing hormone during ovarian stimulation on follicular activity, oocyte and embryo function in cycles stimulated with purified follicle stimulating hormone. Hum Reprod. 1998;13(7):1788–92.PubMedCrossRef Fleming R et al. Effects of profound suppression of luteinizing hormone during ovarian stimulation on follicular activity, oocyte and embryo function in cycles stimulated with purified follicle stimulating hormone. Hum Reprod. 1998;13(7):1788–92.PubMedCrossRef
82.
Zurück zum Zitat Andersen AN, Devroey P, Arce JC. Clinical outcome following stimulation with highly purified hMG or recombinant FSH in patients undergoing IVF: a randomized assessor-blind controlled trial. Hum Reprod. 2006;21(12):3217–27.PubMedCrossRef Andersen AN, Devroey P, Arce JC. Clinical outcome following stimulation with highly purified hMG or recombinant FSH in patients undergoing IVF: a randomized assessor-blind controlled trial. Hum Reprod. 2006;21(12):3217–27.PubMedCrossRef
83.
Zurück zum Zitat Balasch J et al. Suppression of LH during ovarian stimulation: analysing threshold values and effects on ovarian response and the outcome of assisted reproduction in down-regulated women stimulated with recombinant FSH. Hum Reprod. 2001;16(8):1636–43.PubMedCrossRef Balasch J et al. Suppression of LH during ovarian stimulation: analysing threshold values and effects on ovarian response and the outcome of assisted reproduction in down-regulated women stimulated with recombinant FSH. Hum Reprod. 2001;16(8):1636–43.PubMedCrossRef
84.
Zurück zum Zitat Barrenetxea G et al. Ovarian response and pregnancy outcome in poor-responder women: a randomized controlled trial on the effect of luteinizing hormone supplementation on in vitro fertilization cycles. Fertil Steril. 2008;89(3):546–53.PubMedCrossRef Barrenetxea G et al. Ovarian response and pregnancy outcome in poor-responder women: a randomized controlled trial on the effect of luteinizing hormone supplementation on in vitro fertilization cycles. Fertil Steril. 2008;89(3):546–53.PubMedCrossRef
85.
Zurück zum Zitat Emery BR et al. In vitro oocyte maturation and subsequent delayed fertilization is associated with increased embryo aneuploidy. Fertil Steril. 2005;84(4):1027–9.PubMedCrossRef Emery BR et al. In vitro oocyte maturation and subsequent delayed fertilization is associated with increased embryo aneuploidy. Fertil Steril. 2005;84(4):1027–9.PubMedCrossRef
86.
Zurück zum Zitat Bielanska M, Tan SL, Ao A. Different probe combinations for assessment of postzygotic chromosomal imbalances in human embryos. J Assist Reprod Genet. 2002;19(4):177–82.PubMedCrossRef Bielanska M, Tan SL, Ao A. Different probe combinations for assessment of postzygotic chromosomal imbalances in human embryos. J Assist Reprod Genet. 2002;19(4):177–82.PubMedCrossRef
87.
Zurück zum Zitat Velilla E, Escudero T, Munne S. Blastomere fixation techniques and risk of misdiagnosis for preimplantation genetic diagnosis of aneuploidy. Reprod Biomed Online. 2002;4(3):210–7.PubMedCrossRef Velilla E, Escudero T, Munne S. Blastomere fixation techniques and risk of misdiagnosis for preimplantation genetic diagnosis of aneuploidy. Reprod Biomed Online. 2002;4(3):210–7.PubMedCrossRef
88.
Zurück zum Zitat Joris H et al. Comparison of the results of human embryo biopsy and outcome of PGD after zona drilling using acid Tyrode medium or a laser. Hum Reprod. 2003;18(9):1896–902.PubMedCrossRef Joris H et al. Comparison of the results of human embryo biopsy and outcome of PGD after zona drilling using acid Tyrode medium or a laser. Hum Reprod. 2003;18(9):1896–902.PubMedCrossRef
89.
Zurück zum Zitat Chatzimeletiou K et al. Comparison of effects of zona drilling by non-contact infrared laser or acid Tyrode’s on the development of human biopsied embryos as revealed by blastomere viability, cytoskeletal analysis and molecular cytogenetics. Reprod Biomed Online. 2005;11(6):697–710.PubMedCrossRef Chatzimeletiou K et al. Comparison of effects of zona drilling by non-contact infrared laser or acid Tyrode’s on the development of human biopsied embryos as revealed by blastomere viability, cytoskeletal analysis and molecular cytogenetics. Reprod Biomed Online. 2005;11(6):697–710.PubMedCrossRef
90.
Zurück zum Zitat Jones AE et al. Comparison of laser-assisted hatching and acidified Tyrode’s hatching by evaluation of blastocyst development rates in sibling embryos: a prospective randomized trial. Fertil Steril. 2006;85(2):487–91.PubMedCrossRef Jones AE et al. Comparison of laser-assisted hatching and acidified Tyrode’s hatching by evaluation of blastocyst development rates in sibling embryos: a prospective randomized trial. Fertil Steril. 2006;85(2):487–91.PubMedCrossRef
91.
Zurück zum Zitat Dawson A, Griesinger G, Diedrich K. Screening oocytes by polar body biopsy. Reprod Biomed Online. 2006;13(1):104–9.PubMedCrossRef Dawson A, Griesinger G, Diedrich K. Screening oocytes by polar body biopsy. Reprod Biomed Online. 2006;13(1):104–9.PubMedCrossRef
92.
Zurück zum Zitat Hansis C et al. Assessment of beta-HCG, beta-LH mRNA and ploidy in individual human blastomeres. Reprod Biomed Online. 2002;5(2):156–61.PubMedCrossRef Hansis C et al. Assessment of beta-HCG, beta-LH mRNA and ploidy in individual human blastomeres. Reprod Biomed Online. 2002;5(2):156–61.PubMedCrossRef
93.
Zurück zum Zitat Gardner RL. Experimental analysis of second cleavage in the mouse. Hum Reprod. 2002;17(12):3178–89.PubMedCrossRef Gardner RL. Experimental analysis of second cleavage in the mouse. Hum Reprod. 2002;17(12):3178–89.PubMedCrossRef
94.
Zurück zum Zitat Gardner RL, Davies TJ. The basis and significance of pre-patterning in mammals. Philos Trans R Soc Lond B Biol Sci. 2003;358(1436):1331–8. discussion 1338–9.PubMedCrossRef Gardner RL, Davies TJ. The basis and significance of pre-patterning in mammals. Philos Trans R Soc Lond B Biol Sci. 2003;358(1436):1331–8. discussion 1338–9.PubMedCrossRef
95.
Zurück zum Zitat Gardner RL, Davies TJ. Is the plane of first cleavage related to the point of sperm entry in the mouse? Reprod Biomed Online. 2003;6(2):157–60.PubMedCrossRef Gardner RL, Davies TJ. Is the plane of first cleavage related to the point of sperm entry in the mouse? Reprod Biomed Online. 2003;6(2):157–60.PubMedCrossRef
96.
Zurück zum Zitat Goossens V et al. ESHRE PGD consortium data collection VIII: cycles from January to December 2005 with pregnancy follow-up to October 2006. Hum Reprod. 2008;23(12):2629–45.PubMedCrossRef Goossens V et al. ESHRE PGD consortium data collection VIII: cycles from January to December 2005 with pregnancy follow-up to October 2006. Hum Reprod. 2008;23(12):2629–45.PubMedCrossRef
97.
Zurück zum Zitat Harper JC et al. ESHRE PGD consortium data collection X: cycles from January to December 2007 with pregnancy follow-up to October 2008. Hum Reprod. 2010;25(11):2685–707.PubMedCrossRef Harper JC et al. ESHRE PGD consortium data collection X: cycles from January to December 2007 with pregnancy follow-up to October 2008. Hum Reprod. 2010;25(11):2685–707.PubMedCrossRef
98.
Zurück zum Zitat Harton GL et al. ESHRE PGD consortium/embryology special interest group–best practice guidelines for polar body and embryo biopsy for preimplantation genetic diagnosis/screening (PGD/PGS). Hum Reprod. 2011;26(1):41–6.PubMedCrossRef Harton GL et al. ESHRE PGD consortium/embryology special interest group–best practice guidelines for polar body and embryo biopsy for preimplantation genetic diagnosis/screening (PGD/PGS). Hum Reprod. 2011;26(1):41–6.PubMedCrossRef
99.
Zurück zum Zitat Donoso P, Devroey P. PGD for aneuploidy screening: an expensive hoax? Best Pract Res Clin Obstet Gynaecol. 2007;21(1):157–68.PubMedCrossRef Donoso P, Devroey P. PGD for aneuploidy screening: an expensive hoax? Best Pract Res Clin Obstet Gynaecol. 2007;21(1):157–68.PubMedCrossRef
100.
Zurück zum Zitat Twisk M et al. Preimplantation genetic screening for abnormal number of chromosomes (aneuploidies) in in vitro fertilisation or intracytoplasmic sperm injection. Cochrane Database Syst Rev. 2006;(1):CD005291 Twisk M et al. Preimplantation genetic screening for abnormal number of chromosomes (aneuploidies) in in vitro fertilisation or intracytoplasmic sperm injection. Cochrane Database Syst Rev. 2006;(1):CD005291
101.
Zurück zum Zitat Twisk M et al. No beneficial effect of preimplantation genetic screening in women of advanced maternal age with a high risk for embryonic aneuploidy. Hum Reprod. 2008;23(12):2813–7.PubMedCrossRef Twisk M et al. No beneficial effect of preimplantation genetic screening in women of advanced maternal age with a high risk for embryonic aneuploidy. Hum Reprod. 2008;23(12):2813–7.PubMedCrossRef
102.
Zurück zum Zitat Wells D. Embryo aneuploidy and the role of morphological and genetic screening. Reprod Biomed Online. 2010;21(3):274–7.PubMedCrossRef Wells D. Embryo aneuploidy and the role of morphological and genetic screening. Reprod Biomed Online. 2010;21(3):274–7.PubMedCrossRef
103.
Zurück zum Zitat Debrock S, et al. Preimplantation genetic screening for aneuploidy of embryos after in vitro fertilization in women aged at least 35 years: a prospective randomized trial. Fertil Steril. 2009 Debrock S, et al. Preimplantation genetic screening for aneuploidy of embryos after in vitro fertilization in women aged at least 35 years: a prospective randomized trial. Fertil Steril. 2009
104.
Zurück zum Zitat Checa MA et al. IVF/ICSI with or without preimplantation genetic screening for aneuploidy in couples without genetic disorders: a systematic review and meta-analysis. J Assist Reprod Genet. 2009;26(5):273–83.PubMedCrossRef Checa MA et al. IVF/ICSI with or without preimplantation genetic screening for aneuploidy in couples without genetic disorders: a systematic review and meta-analysis. J Assist Reprod Genet. 2009;26(5):273–83.PubMedCrossRef
105.
Zurück zum Zitat Fritz MA. Perspectives on the efficacy and indications for preimplantation genetic screening: where are we now? Hum Reprod. 2008;23(12):2617–21.PubMedCrossRef Fritz MA. Perspectives on the efficacy and indications for preimplantation genetic screening: where are we now? Hum Reprod. 2008;23(12):2617–21.PubMedCrossRef
106.
Zurück zum Zitat Cohen J, Wells D, Munne S. Removal of 2 cells from cleavage stage embryos is likely to reduce the efficacy of chromosomal tests that are used to enhance implantation rates. Fertil Steril. 2007;87(3):496–503.PubMedCrossRef Cohen J, Wells D, Munne S. Removal of 2 cells from cleavage stage embryos is likely to reduce the efficacy of chromosomal tests that are used to enhance implantation rates. Fertil Steril. 2007;87(3):496–503.PubMedCrossRef
107.
Zurück zum Zitat Michiels A et al. The analysis of one or two blastomeres for PGD using fluorescence in-situ hybridization. Hum Reprod. 2006;21(9):2396–402.PubMedCrossRef Michiels A et al. The analysis of one or two blastomeres for PGD using fluorescence in-situ hybridization. Hum Reprod. 2006;21(9):2396–402.PubMedCrossRef
108.
Zurück zum Zitat Goossens V et al. Diagnostic efficiency, embryonic development and clinical outcome after the biopsy of one or two blastomeres for preimplantation genetic diagnosis. Hum Reprod. 2008;23(3):481–92.PubMedCrossRef Goossens V et al. Diagnostic efficiency, embryonic development and clinical outcome after the biopsy of one or two blastomeres for preimplantation genetic diagnosis. Hum Reprod. 2008;23(3):481–92.PubMedCrossRef
109.
Zurück zum Zitat Harton GL et al. ESHRE PGD consortium best practice guidelines for amplification-based PGD. Hum Reprod. 2011;26(1):33–40.PubMedCrossRef Harton GL et al. ESHRE PGD consortium best practice guidelines for amplification-based PGD. Hum Reprod. 2011;26(1):33–40.PubMedCrossRef
110.
Zurück zum Zitat Harton GL et al. ESHRE PGD consortium best practice guidelines for fluorescence in situ hybridization-based PGD. Hum Reprod. 2011;26(1):25–32.PubMedCrossRef Harton GL et al. ESHRE PGD consortium best practice guidelines for fluorescence in situ hybridization-based PGD. Hum Reprod. 2011;26(1):25–32.PubMedCrossRef
111.
Zurück zum Zitat Kokkali G et al. Blastocyst biopsy versus cleavage stage biopsy and blastocyst transfer for preimplantation genetic diagnosis of beta-thalassaemia: a pilot study. Hum Reprod. 2007;22(5):1443–9.PubMedCrossRef Kokkali G et al. Blastocyst biopsy versus cleavage stage biopsy and blastocyst transfer for preimplantation genetic diagnosis of beta-thalassaemia: a pilot study. Hum Reprod. 2007;22(5):1443–9.PubMedCrossRef
112.
Zurück zum Zitat Schoolcraft WB et al. Clinical application of comprehensive chromosomal screening at the blastocyst stage. Fertil Steril. 2010;94(5):1700–6.PubMedCrossRef Schoolcraft WB et al. Clinical application of comprehensive chromosomal screening at the blastocyst stage. Fertil Steril. 2010;94(5):1700–6.PubMedCrossRef
113.
Zurück zum Zitat Magli MC et al. The combination of polar body and embryo biopsy does not affect embryo viability. Hum Reprod. 2004;19(5):1163–9.PubMedCrossRef Magli MC et al. The combination of polar body and embryo biopsy does not affect embryo viability. Hum Reprod. 2004;19(5):1163–9.PubMedCrossRef
114.
Zurück zum Zitat DeUgarte CM et al. Accuracy of FISH analysis in predicting chromosomal status in patients undergoing preimplantation genetic diagnosis. Fertil Steril. 2008;90(4):1049–54.PubMedCrossRef DeUgarte CM et al. Accuracy of FISH analysis in predicting chromosomal status in patients undergoing preimplantation genetic diagnosis. Fertil Steril. 2008;90(4):1049–54.PubMedCrossRef
115.
Zurück zum Zitat Agerholm IE et al. Sequential FISH analysis using competitive displacement of labelled peptide nucleic acid probes for eight chromosomes in human blastomeres. Hum Reprod. 2005;20(4):1072–7.PubMedCrossRef Agerholm IE et al. Sequential FISH analysis using competitive displacement of labelled peptide nucleic acid probes for eight chromosomes in human blastomeres. Hum Reprod. 2005;20(4):1072–7.PubMedCrossRef
116.
Zurück zum Zitat Gutierrez-Mateo C et al. Karyotyping of human oocytes by cenM-FISH, a new 24-colour centromere-specific technique. Hum Reprod. 2005;20(12):3395–401.PubMedCrossRef Gutierrez-Mateo C et al. Karyotyping of human oocytes by cenM-FISH, a new 24-colour centromere-specific technique. Hum Reprod. 2005;20(12):3395–401.PubMedCrossRef
117.
Zurück zum Zitat Pellestor F et al. Fluorescence in situ hybridization analysis of human oocytes: advantages of a double-labeling procedure. Fertil Steril. 2004;82(4):919–22.PubMedCrossRef Pellestor F et al. Fluorescence in situ hybridization analysis of human oocytes: advantages of a double-labeling procedure. Fertil Steril. 2004;82(4):919–22.PubMedCrossRef
118.
Zurück zum Zitat Yan LY, et al. Application of three-dimensional fluorescence in situ hybridization to human preimplantation genetic diagnosis. Fertil Steril. 2008 Yan LY, et al. Application of three-dimensional fluorescence in situ hybridization to human preimplantation genetic diagnosis. Fertil Steril. 2008
119.
Zurück zum Zitat Wells D, Alfarawati S, Fragouli E. Use of comprehensive chromosomal screening for embryo assessment: microarrays and CGH. Mol Hum Reprod. 2008;14(12):703–10.PubMedCrossRef Wells D, Alfarawati S, Fragouli E. Use of comprehensive chromosomal screening for embryo assessment: microarrays and CGH. Mol Hum Reprod. 2008;14(12):703–10.PubMedCrossRef
120.
Zurück zum Zitat Fragouli E, et al. Comprehensive chromosome screening of polar bodies and blastocysts from couples experiencing repeated implantation failure. Fertil Steril. 2009 Fragouli E, et al. Comprehensive chromosome screening of polar bodies and blastocysts from couples experiencing repeated implantation failure. Fertil Steril. 2009
121.
Zurück zum Zitat Pellestor F et al. Mechanisms of non-disjunction in human female meiosis: the co-existence of two modes of malsegregation evidenced by the karyotyping of 1397 in-vitro unfertilized oocytes. Hum Reprod. 2002;17(8):2134–45.PubMedCrossRef Pellestor F et al. Mechanisms of non-disjunction in human female meiosis: the co-existence of two modes of malsegregation evidenced by the karyotyping of 1397 in-vitro unfertilized oocytes. Hum Reprod. 2002;17(8):2134–45.PubMedCrossRef
122.
Zurück zum Zitat Sandalinas M, Marquez C, Munne S. Spectral karyotyping of fresh, non-inseminated oocytes. Mol Hum Reprod. 2002;8(6):580–5.PubMedCrossRef Sandalinas M, Marquez C, Munne S. Spectral karyotyping of fresh, non-inseminated oocytes. Mol Hum Reprod. 2002;8(6):580–5.PubMedCrossRef
123.
Zurück zum Zitat Gutierrez-Mateo C et al. Aneuploidy study of human oocytes first polar body comparative genomic hybridization and metaphase II fluorescence in situ hybridization analysis. Hum Reprod. 2004;19(12):2859–68.PubMedCrossRef Gutierrez-Mateo C et al. Aneuploidy study of human oocytes first polar body comparative genomic hybridization and metaphase II fluorescence in situ hybridization analysis. Hum Reprod. 2004;19(12):2859–68.PubMedCrossRef
124.
Zurück zum Zitat Gutierrez-Mateo C et al. Reliability of comparative genomic hybridization to detect chromosome abnormalities in first polar bodies and metaphase II oocytes. Hum Reprod. 2004;19(9):2118–25.PubMedCrossRef Gutierrez-Mateo C et al. Reliability of comparative genomic hybridization to detect chromosome abnormalities in first polar bodies and metaphase II oocytes. Hum Reprod. 2004;19(9):2118–25.PubMedCrossRef
125.
Zurück zum Zitat Wilton L et al. Preimplantation aneuploidy screening using comparative genomic hybridization or fluorescence in situ hybridization of embryos from patients with recurrent implantation failure. Fertil Steril. 2003;80(4):860–8.PubMedCrossRef Wilton L et al. Preimplantation aneuploidy screening using comparative genomic hybridization or fluorescence in situ hybridization of embryos from patients with recurrent implantation failure. Fertil Steril. 2003;80(4):860–8.PubMedCrossRef
126.
Zurück zum Zitat Keskintepe L, Sher G, Keskintepe M. Reproductive oocyte/embryo genetic analysis: comparison between fluorescence in-situ hybridization and comparative genomic hybridization. Reprod Biomed Online. 2007;15(3):303–9.PubMedCrossRef Keskintepe L, Sher G, Keskintepe M. Reproductive oocyte/embryo genetic analysis: comparison between fluorescence in-situ hybridization and comparative genomic hybridization. Reprod Biomed Online. 2007;15(3):303–9.PubMedCrossRef
127.
Zurück zum Zitat Hellani A et al. Successful pregnancies after application of array-comparative genomic hybridization in PGS-aneuploidy screening. Reprod Biomed Online. 2008;17(6):841–7.PubMedCrossRef Hellani A et al. Successful pregnancies after application of array-comparative genomic hybridization in PGS-aneuploidy screening. Reprod Biomed Online. 2008;17(6):841–7.PubMedCrossRef
128.
Zurück zum Zitat Rius M et al. Reliability of short comparative genomic hybridization in fibroblasts and blastomeres for a comprehensive aneuploidy screening: first clinical application. Hum Reprod. 2010;25(7):1824–35.PubMedCrossRef Rius M et al. Reliability of short comparative genomic hybridization in fibroblasts and blastomeres for a comprehensive aneuploidy screening: first clinical application. Hum Reprod. 2010;25(7):1824–35.PubMedCrossRef
129.
Zurück zum Zitat Gutierrez-Mateo C, et al. Validation of microarray comparative genomic hybridization for comprehensive chromosome analysis of embryos. Fertil Steril. 2010 Gutierrez-Mateo C, et al. Validation of microarray comparative genomic hybridization for comprehensive chromosome analysis of embryos. Fertil Steril. 2010
130.
Zurück zum Zitat Handyside AH et al. Karyomapping: a universal method for genome wide analysis of genetic disease based on mapping crossovers between parental haplotypes. J Med Genet. 2010;47(10):651–8.PubMedCrossRef Handyside AH et al. Karyomapping: a universal method for genome wide analysis of genetic disease based on mapping crossovers between parental haplotypes. J Med Genet. 2010;47(10):651–8.PubMedCrossRef
131.
Zurück zum Zitat Treff NR et al. Accurate single cell 24 chromosome aneuploidy screening using whole genome amplification and single nucleotide polymorphism microarrays. Fertil Steril. 2010;94(6):2017–21.PubMedCrossRef Treff NR et al. Accurate single cell 24 chromosome aneuploidy screening using whole genome amplification and single nucleotide polymorphism microarrays. Fertil Steril. 2010;94(6):2017–21.PubMedCrossRef
132.
Zurück zum Zitat Johnson DS et al. Preclinical validation of a microarray method for full molecular karyotyping of blastomeres in a 24-h protocol. Hum Reprod. 2010;25(4):1066–75.PubMedCrossRef Johnson DS et al. Preclinical validation of a microarray method for full molecular karyotyping of blastomeres in a 24-h protocol. Hum Reprod. 2010;25(4):1066–75.PubMedCrossRef
133.
Zurück zum Zitat Bonduelle M et al. Prenatal testing in ICSI pregnancies: incidence of chromosomal anomalies in 1586 karyotypes and relation to sperm parameters. Hum Reprod. 2002;17(10):2600–14.PubMedCrossRef Bonduelle M et al. Prenatal testing in ICSI pregnancies: incidence of chromosomal anomalies in 1586 karyotypes and relation to sperm parameters. Hum Reprod. 2002;17(10):2600–14.PubMedCrossRef
134.
Zurück zum Zitat Sanchez-Castro M et al. Prognostic value of sperm fluorescence in situ hybridization analysis over PGD. Hum Reprod. 2009;24(6):1516–21.PubMedCrossRef Sanchez-Castro M et al. Prognostic value of sperm fluorescence in situ hybridization analysis over PGD. Hum Reprod. 2009;24(6):1516–21.PubMedCrossRef
135.
Zurück zum Zitat Kuznyetsov V et al. Duplication of the sperm genome by human androgenetic embryo production: towards testing the paternal genome prior to fertilization. Reprod Biomed Online. 2007;14(4):504–14.PubMedCrossRef Kuznyetsov V et al. Duplication of the sperm genome by human androgenetic embryo production: towards testing the paternal genome prior to fertilization. Reprod Biomed Online. 2007;14(4):504–14.PubMedCrossRef
136.
Zurück zum Zitat Lewis-Jones I et al. Sperm chromosomal abnormalities are linked to sperm morphologic deformities. Fertil Steril. 2003;79(1):212–5.PubMedCrossRef Lewis-Jones I et al. Sperm chromosomal abnormalities are linked to sperm morphologic deformities. Fertil Steril. 2003;79(1):212–5.PubMedCrossRef
137.
Zurück zum Zitat Dubey A et al. The influence of sperm morphology on preimplantation genetic diagnosis cycles outcome. Fertil Steril. 2008;89(6):1665–9.PubMedCrossRef Dubey A et al. The influence of sperm morphology on preimplantation genetic diagnosis cycles outcome. Fertil Steril. 2008;89(6):1665–9.PubMedCrossRef
138.
Zurück zum Zitat Maille L et al. Pronuclear morphology differs between women more than 38 and women less than 30 years of age. Reprod Biomed Online. 2009;18(3):367–73.PubMedCrossRef Maille L et al. Pronuclear morphology differs between women more than 38 and women less than 30 years of age. Reprod Biomed Online. 2009;18(3):367–73.PubMedCrossRef
139.
Zurück zum Zitat Gianaroli L et al. Oocyte euploidy, pronuclear zygote morphology and embryo chromosomal complement. Hum Reprod. 2007;22(1):241–9.PubMedCrossRef Gianaroli L et al. Oocyte euploidy, pronuclear zygote morphology and embryo chromosomal complement. Hum Reprod. 2007;22(1):241–9.PubMedCrossRef
140.
Zurück zum Zitat Noyes N et al. Embryo biopsy: the fate of abnormal pronuclear embryos. Reprod Biomed Online. 2008;17(6):782–8.PubMedCrossRef Noyes N et al. Embryo biopsy: the fate of abnormal pronuclear embryos. Reprod Biomed Online. 2008;17(6):782–8.PubMedCrossRef
141.
Zurück zum Zitat Rosenbusch B et al. Cytogenetic analysis of giant oocytes and zygotes to assess their relevance for the development of digynic triploidy. Hum Reprod. 2002;17(9):2388–93.PubMedCrossRef Rosenbusch B et al. Cytogenetic analysis of giant oocytes and zygotes to assess their relevance for the development of digynic triploidy. Hum Reprod. 2002;17(9):2388–93.PubMedCrossRef
142.
Zurück zum Zitat Edwards RG, Beard HK. Oocyte polarity and cell determination in early mammalian embryos. Mol Hum Reprod. 1997;3(10):863–905.PubMedCrossRef Edwards RG, Beard HK. Oocyte polarity and cell determination in early mammalian embryos. Mol Hum Reprod. 1997;3(10):863–905.PubMedCrossRef
143.
Zurück zum Zitat Balaban B et al. Pronuclear morphology predicts embryo development and chromosome constitution. Reprod Biomed Online. 2004;8(6):695–700.PubMedCrossRef Balaban B et al. Pronuclear morphology predicts embryo development and chromosome constitution. Reprod Biomed Online. 2004;8(6):695–700.PubMedCrossRef
144.
Zurück zum Zitat Munne S, Tomkin G, Cohen J. Selection of embryos by morphology is less effective than by a combination of aneuploidy testing and morphology observations. Fertil Steril. 2009;91(3):943–5.PubMedCrossRef Munne S, Tomkin G, Cohen J. Selection of embryos by morphology is less effective than by a combination of aneuploidy testing and morphology observations. Fertil Steril. 2009;91(3):943–5.PubMedCrossRef
145.
Zurück zum Zitat Holte J et al. Construction of an evidence-based integrated morphology cleavage embryo score for implantation potential of embryos scored and transferred on day 2 after oocyte retrieval. Hum Reprod. 2007;22(2):548–57.PubMedCrossRef Holte J et al. Construction of an evidence-based integrated morphology cleavage embryo score for implantation potential of embryos scored and transferred on day 2 after oocyte retrieval. Hum Reprod. 2007;22(2):548–57.PubMedCrossRef
146.
Zurück zum Zitat Magli MC et al. Embryo morphology and development are dependent on the chromosomal complement. Fertil Steril. 2007;87(3):534–41.PubMedCrossRef Magli MC et al. Embryo morphology and development are dependent on the chromosomal complement. Fertil Steril. 2007;87(3):534–41.PubMedCrossRef
147.
Zurück zum Zitat Moayeri SE et al. Day-3 embryo morphology predicts euploidy among older subjects. Fertil Steril. 2008;89(1):118–23.PubMedCrossRef Moayeri SE et al. Day-3 embryo morphology predicts euploidy among older subjects. Fertil Steril. 2008;89(1):118–23.PubMedCrossRef
148.
Zurück zum Zitat McKenzie LJ et al. Nuclear chromosomal localization in human preimplantation embryos: correlation with aneuploidy and embryo morphology. Hum Reprod. 2004;19(10):2231–7.PubMedCrossRef McKenzie LJ et al. Nuclear chromosomal localization in human preimplantation embryos: correlation with aneuploidy and embryo morphology. Hum Reprod. 2004;19(10):2231–7.PubMedCrossRef
149.
Zurück zum Zitat Harper JC et al. ESHRE PGD consortium data collection V: cycles from January to December 2002 with pregnancy follow-up to October 2003. Hum Reprod. 2006;21(1):3–21.PubMedCrossRef Harper JC et al. ESHRE PGD consortium data collection V: cycles from January to December 2002 with pregnancy follow-up to October 2003. Hum Reprod. 2006;21(1):3–21.PubMedCrossRef
150.
Zurück zum Zitat Harton G et al. ESHRE PGD consortium best practice guidelines for organization of a PGD centre for PGD/preimplantation genetic screening. Hum Reprod. 2011;26(1):14–24.PubMedCrossRef Harton G et al. ESHRE PGD consortium best practice guidelines for organization of a PGD centre for PGD/preimplantation genetic screening. Hum Reprod. 2011;26(1):14–24.PubMedCrossRef
151.
Zurück zum Zitat Basille C et al. Preimplantation genetic diagnosis: state of the art. Eur J Obstet Gynecol Reprod Biol. 2009;145(1):9–13.PubMedCrossRef Basille C et al. Preimplantation genetic diagnosis: state of the art. Eur J Obstet Gynecol Reprod Biol. 2009;145(1):9–13.PubMedCrossRef
152.
Zurück zum Zitat Thornhill AR, Snow K. Molecular diagnostics in preimplantation genetic diagnosis. J Mol Diagn. 2002;4(1):11–29.PubMedCrossRef Thornhill AR, Snow K. Molecular diagnostics in preimplantation genetic diagnosis. J Mol Diagn. 2002;4(1):11–29.PubMedCrossRef
153.
Zurück zum Zitat Thornhill AR et al. ESHRE PGD consortium ‘best practice guidelines for clinical preimplantation genetic diagnosis (PGD) and preimplantation genetic screening (PGS)’. Hum Reprod. 2005;20(1):35–48.PubMedCrossRef Thornhill AR et al. ESHRE PGD consortium ‘best practice guidelines for clinical preimplantation genetic diagnosis (PGD) and preimplantation genetic screening (PGS)’. Hum Reprod. 2005;20(1):35–48.PubMedCrossRef
154.
Zurück zum Zitat Guidelines for good practice in PGD: programme requirements and laboratory quality assurance. Reprod Biomed Online. 2008;16(1):134–47 Guidelines for good practice in PGD: programme requirements and laboratory quality assurance. Reprod Biomed Online. 2008;16(1):134–47
155.
Zurück zum Zitat Staessen C et al. Preimplantation genetic screening does not improve delivery rate in women under the age of 36 following single-embryo transfer. Hum Reprod. 2008;23(12):2818–25.PubMedCrossRef Staessen C et al. Preimplantation genetic screening does not improve delivery rate in women under the age of 36 following single-embryo transfer. Hum Reprod. 2008;23(12):2818–25.PubMedCrossRef
156.
Zurück zum Zitat Hardarson T et al. Preimplantation genetic screening in women of advanced maternal age caused a decrease in clinical pregnancy rate: a randomized controlled trial. Hum Reprod. 2008;23(12):2806–12.PubMedCrossRef Hardarson T et al. Preimplantation genetic screening in women of advanced maternal age caused a decrease in clinical pregnancy rate: a randomized controlled trial. Hum Reprod. 2008;23(12):2806–12.PubMedCrossRef
157.
Zurück zum Zitat Rubio C et al. The importance of good practice in preimplantation genetic screening: critical viewpoints. Hum Reprod. 2009;24(8):2045–7.PubMedCrossRef Rubio C et al. The importance of good practice in preimplantation genetic screening: critical viewpoints. Hum Reprod. 2009;24(8):2045–7.PubMedCrossRef
158.
Zurück zum Zitat Knoppers BM, Bordet S, Isasi RM. Preimplantation genetic diagnosis: an overview of socio-ethical and legal considerations. Annu Rev Genomics Hum Genet. 2006;7:201–21.PubMedCrossRef Knoppers BM, Bordet S, Isasi RM. Preimplantation genetic diagnosis: an overview of socio-ethical and legal considerations. Annu Rev Genomics Hum Genet. 2006;7:201–21.PubMedCrossRef
159.
Zurück zum Zitat Fasouliotis SJ, Schenker JG. Preimplantation genetic diagnosis principles and ethics. Hum Reprod. 1998;13(8):2238–45.PubMedCrossRef Fasouliotis SJ, Schenker JG. Preimplantation genetic diagnosis principles and ethics. Hum Reprod. 1998;13(8):2238–45.PubMedCrossRef
160.
Zurück zum Zitat Collins JA et al. An estimate of the cost of in vitro fertilization services in the United States in 1995. Fertil Steril. 1995;64(3):538–45.PubMed Collins JA et al. An estimate of the cost of in vitro fertilization services in the United States in 1995. Fertil Steril. 1995;64(3):538–45.PubMed
161.
Zurück zum Zitat Collins J. Cost-effectiveness of in vitro fertilization. Semin Reprod Med. 2001;19(3):279–89.PubMedCrossRef Collins J. Cost-effectiveness of in vitro fertilization. Semin Reprod Med. 2001;19(3):279–89.PubMedCrossRef
162.
Zurück zum Zitat Mersereau JE, Plunkett BA, Cedars MI. Preimplantation genetic screening in older women: a cost-effectiveness analysis. Fertil Steril. 2008;90(3):592–8.PubMedCrossRef Mersereau JE, Plunkett BA, Cedars MI. Preimplantation genetic screening in older women: a cost-effectiveness analysis. Fertil Steril. 2008;90(3):592–8.PubMedCrossRef
163.
Zurück zum Zitat ACOG Committee Opinion No. 430: preimplantation genetic screening for aneuploidy. Obstet Gynecol. 2009;113(3):766–7 ACOG Committee Opinion No. 430: preimplantation genetic screening for aneuploidy. Obstet Gynecol. 2009;113(3):766–7
164.
Zurück zum Zitat Harper J et al. What next for preimplantation genetic screening (PGS)? a position statement from the ESHRE PGD consortium steering committee. Hum Reprod. 2010;25(4):821–3.PubMedCrossRef Harper J et al. What next for preimplantation genetic screening (PGS)? a position statement from the ESHRE PGD consortium steering committee. Hum Reprod. 2010;25(4):821–3.PubMedCrossRef
165.
Zurück zum Zitat Staessen C et al. Comparison of blastocyst transfer with or without preimplantation genetic diagnosis for aneuploidy screening in couples with advanced maternal age: a prospective randomized controlled trial. Hum Reprod. 2004;19(12):2849–58.PubMedCrossRef Staessen C et al. Comparison of blastocyst transfer with or without preimplantation genetic diagnosis for aneuploidy screening in couples with advanced maternal age: a prospective randomized controlled trial. Hum Reprod. 2004;19(12):2849–58.PubMedCrossRef
166.
Zurück zum Zitat Jansen RP et al. What next for preimplantation genetic screening (PGS)? experience with blastocyst biopsy and testing for aneuploidy. Hum Reprod. 2008;23(7):1476–8.PubMedCrossRef Jansen RP et al. What next for preimplantation genetic screening (PGS)? experience with blastocyst biopsy and testing for aneuploidy. Hum Reprod. 2008;23(7):1476–8.PubMedCrossRef
167.
Zurück zum Zitat Mastenbroek S et al. In vitro fertilization with preimplantation genetic screening. N Engl J Med. 2007;357(1):9–17.PubMedCrossRef Mastenbroek S et al. In vitro fertilization with preimplantation genetic screening. N Engl J Med. 2007;357(1):9–17.PubMedCrossRef
168.
Zurück zum Zitat Munne S, Wells D, Cohen J. Technology requirements for preimplantation genetic diagnosis to improve assisted reproduction outcomes. Fertil Steril. 2009 Munne S, Wells D, Cohen J. Technology requirements for preimplantation genetic diagnosis to improve assisted reproduction outcomes. Fertil Steril. 2009
169.
Zurück zum Zitat Scott RT, et al. A prospective randomized controlled trial demonstrating significantly increased clinical pregnancy rates following 24 chromosome aneuploidy screening: biopsy and analysis on day 5 with fresh transfer. Fertil Steril. 2010;94(S2) Scott RT, et al. A prospective randomized controlled trial demonstrating significantly increased clinical pregnancy rates following 24 chromosome aneuploidy screening: biopsy and analysis on day 5 with fresh transfer. Fertil Steril. 2010;94(S2)
Metadaten
Titel
Preimplantation genetic screening: does it help or hinder IVF treatment and what is the role of the embryo?
verfasst von
Kim Dao Ly
Ashok Agarwal
Zsolt Peter Nagy
Publikationsdatum
01.09.2011
Verlag
Springer US
Erschienen in
Journal of Assisted Reproduction and Genetics / Ausgabe 9/2011
Print ISSN: 1058-0468
Elektronische ISSN: 1573-7330
DOI
https://doi.org/10.1007/s10815-011-9608-7

Weitere Artikel der Ausgabe 9/2011

Journal of Assisted Reproduction and Genetics 9/2011 Zur Ausgabe

Update Gynäkologie

Bestellen Sie unseren Fach-Newsletter und bleiben Sie gut informiert – ganz bequem per eMail.