Skip to main content
Erschienen in: Journal of Assisted Reproduction and Genetics 6/2017

29.03.2017 | Commentary

Prenatal screening for chromosomal abnormalities in IVF patients that opted for preimplantation genetic screening/diagnosis (PGS/D): a need for revised algorithms in the era of personalized medicine

verfasst von: Afua Takyi, Joaquin Santolaya-Forgas

Erschienen in: Journal of Assisted Reproduction and Genetics | Ausgabe 6/2017

Einloggen, um Zugang zu erhalten

Abstract

Obstetricians offer prenatal screening for most common chromosomal abnormalities to all pregnant women including those that had in vitro fertilization (IVF) and preimplantation genetic screening/diagnosis (PGS/D). We propose that free fetal DNA in maternal circulation together with the second trimester maternal serum alfa feto protein (MSAFP) and ultrasound imaging is the best prenatal screening test for chromosomal abnormalities and congenital anomalies in IVF-PGD/S patients because risk estimations from all other prenatal screening algorithms for chromosomal abnormalities depend heavily on maternal age which is irrelevant in PGS/D patients.
Literatur
1.
Zurück zum Zitat Sunderam S, Kissin D, Crawford SB, Folger S, Jamieson D, Warner L, et al. Assisted Reproductive Technology Surveillance—United States, 2013. MMWR. 2015;64(11):1–25. Sunderam S, Kissin D, Crawford SB, Folger S, Jamieson D, Warner L, et al. Assisted Reproductive Technology Surveillance—United States, 2013. MMWR. 2015;64(11):1–25.
2.
Zurück zum Zitat Chang J, Boulet S, Jeng G, Flowers L, Kissin D. Outcomes of in vitro fertilization with preimplantation genetic diagnosis: an analysis of the United States Assisted Reproductive Technology Surveillance Data, 2011–2012. Fertil Steril. 2016;105(2):394–400.CrossRefPubMed Chang J, Boulet S, Jeng G, Flowers L, Kissin D. Outcomes of in vitro fertilization with preimplantation genetic diagnosis: an analysis of the United States Assisted Reproductive Technology Surveillance Data, 2011–2012. Fertil Steril. 2016;105(2):394–400.CrossRefPubMed
3.
Zurück zum Zitat Winkelman W, Missmer S, Myers D, Ginsburg S. Public perspective on the use of preimplantation genetic diagnosis. J Assist Reprod Genet. 2015;32:665–75.CrossRefPubMedPubMedCentral Winkelman W, Missmer S, Myers D, Ginsburg S. Public perspective on the use of preimplantation genetic diagnosis. J Assist Reprod Genet. 2015;32:665–75.CrossRefPubMedPubMedCentral
4.
Zurück zum Zitat Collins S. Preimplantation genetic diagnosis: technical advances and expanding applications. Curr Opin Obstet Gynecol. 2013;25:201–6.CrossRefPubMed Collins S. Preimplantation genetic diagnosis: technical advances and expanding applications. Curr Opin Obstet Gynecol. 2013;25:201–6.CrossRefPubMed
5.
Zurück zum Zitat Li G, Haixia J, Zhimin X, Su Y, Brezina P, Benner A, et al. Increased IVF pregnancy rates after microarray preimplantation genetic diagnosis due to parental translocations. Syst Biol Reprod Med. 2014;60(2):119–24.CrossRefPubMed Li G, Haixia J, Zhimin X, Su Y, Brezina P, Benner A, et al. Increased IVF pregnancy rates after microarray preimplantation genetic diagnosis due to parental translocations. Syst Biol Reprod Med. 2014;60(2):119–24.CrossRefPubMed
6.
Zurück zum Zitat Tobler K, Brezina P, Benner A, Du L, Xu X, Kearns W. Two different microarray technologies for preimplantation genetic diagnosis and screening, due to reciprocal translocation imbalances, demonstrate equivalent euploidy and clinical pregnancy rates. J Assist Reprod Genet. 2014;31:843–50.CrossRefPubMedPubMedCentral Tobler K, Brezina P, Benner A, Du L, Xu X, Kearns W. Two different microarray technologies for preimplantation genetic diagnosis and screening, due to reciprocal translocation imbalances, demonstrate equivalent euploidy and clinical pregnancy rates. J Assist Reprod Genet. 2014;31:843–50.CrossRefPubMedPubMedCentral
8.
Zurück zum Zitat Silberstein T, Levy A, Harlev A, Saphier O, Sheiner E. Perinatal outcome of pregnancies following in vitro fertilization and ovulation induction. J Matern Fetal Neonatal Med. 2014;27(13):1316–9.CrossRefPubMed Silberstein T, Levy A, Harlev A, Saphier O, Sheiner E. Perinatal outcome of pregnancies following in vitro fertilization and ovulation induction. J Matern Fetal Neonatal Med. 2014;27(13):1316–9.CrossRefPubMed
9.
Zurück zum Zitat Hansen M, Kurinczuk JJ, Milne E, Klerk N, Bower C. Assisted reproductive technology and birth defects: a systematic review and meta-analysis. Hum Reprod Update. 2013;19(4):330–53.CrossRefPubMed Hansen M, Kurinczuk JJ, Milne E, Klerk N, Bower C. Assisted reproductive technology and birth defects: a systematic review and meta-analysis. Hum Reprod Update. 2013;19(4):330–53.CrossRefPubMed
10.
Zurück zum Zitat Werner MD, Leondires M, Arredondo F, Hickman T, Schoolcraft W, Scott RT. The clinical misdiagnosis rate with QPCR based comprehensive chromosomal screening for embryonic aneuploidy is low and may commonly reflect mosaicism. Fertil Steril. 2013;100(3):Supplement S129.CrossRef Werner MD, Leondires M, Arredondo F, Hickman T, Schoolcraft W, Scott RT. The clinical misdiagnosis rate with QPCR based comprehensive chromosomal screening for embryonic aneuploidy is low and may commonly reflect mosaicism. Fertil Steril. 2013;100(3):Supplement S129.CrossRef
11.
Zurück zum Zitat Tiegs AW, Hodes-Wertz B, McCulloh DH, Grifo J. Clinical error rate of array comparative genomic hybridization in euploid blastocysts. Fertil Steril. 2015;104(3):Supplement e275.CrossRef Tiegs AW, Hodes-Wertz B, McCulloh DH, Grifo J. Clinical error rate of array comparative genomic hybridization in euploid blastocysts. Fertil Steril. 2015;104(3):Supplement e275.CrossRef
12.
Zurück zum Zitat Francois L, Kugler L, Santolaya JL, Faro R, Di Stefano V, Santolaya-Forgas J. Screening for Down syndrome in dichorionic twin pregnancies conceived by IVF: a clinical pilot study to confirm the laboratory methods. J Assist Reprod Genet. 2014;31(1):125–8.CrossRefPubMed Francois L, Kugler L, Santolaya JL, Faro R, Di Stefano V, Santolaya-Forgas J. Screening for Down syndrome in dichorionic twin pregnancies conceived by IVF: a clinical pilot study to confirm the laboratory methods. J Assist Reprod Genet. 2014;31(1):125–8.CrossRefPubMed
13.
Zurück zum Zitat The American College of Obstetrician and Gynecologists. Cell-free DNA screening for aneuploidy. Committee Opinion No 640. Obstet Gynecol. 2015;126:e31–7.CrossRef The American College of Obstetrician and Gynecologists. Cell-free DNA screening for aneuploidy. Committee Opinion No 640. Obstet Gynecol. 2015;126:e31–7.CrossRef
14.
Zurück zum Zitat Borrell A, Robinson JN, Santolaya-Forgas J. Report on the 11–13+6 week ultrasound evaluation as a screening test for trisomy 21 in singleton pregnancies. Am J Perinatol. 2009;26(10):703–10.CrossRefPubMed Borrell A, Robinson JN, Santolaya-Forgas J. Report on the 11–13+6 week ultrasound evaluation as a screening test for trisomy 21 in singleton pregnancies. Am J Perinatol. 2009;26(10):703–10.CrossRefPubMed
15.
Zurück zum Zitat Reddy UM, Abuhamad AZ, Levine D, Saade GR. Fetal imaging: executive summary of the joint Eunice Kennedy Shiver National Institute of Child Health and Human Development, Society for Maternal-Fetal Medicine, American Institute of Ultrasound in Medicine, American College of Obstetrician Gynecologists, American College of Radiology, Society for Pediatric Radiology, and Society of Radiologists in Ultrasound Fetal Imaging Workshop. J Ultrasound Med. 2014;3(5):745–57.CrossRef Reddy UM, Abuhamad AZ, Levine D, Saade GR. Fetal imaging: executive summary of the joint Eunice Kennedy Shiver National Institute of Child Health and Human Development, Society for Maternal-Fetal Medicine, American Institute of Ultrasound in Medicine, American College of Obstetrician Gynecologists, American College of Radiology, Society for Pediatric Radiology, and Society of Radiologists in Ultrasound Fetal Imaging Workshop. J Ultrasound Med. 2014;3(5):745–57.CrossRef
16.
Zurück zum Zitat Baer RJ, Currier RJ, Norton ME, Flessel MC, Goldman S, Towner D, Jellife-Pawlowski LL. Obstetric, perinatal, and fetal outcomes in pregnancies with false-positive integrated screening results. Obstet Gynecol. 2014;123(3):603–9.CrossRefPubMed Baer RJ, Currier RJ, Norton ME, Flessel MC, Goldman S, Towner D, Jellife-Pawlowski LL. Obstetric, perinatal, and fetal outcomes in pregnancies with false-positive integrated screening results. Obstet Gynecol. 2014;123(3):603–9.CrossRefPubMed
Metadaten
Titel
Prenatal screening for chromosomal abnormalities in IVF patients that opted for preimplantation genetic screening/diagnosis (PGS/D): a need for revised algorithms in the era of personalized medicine
verfasst von
Afua Takyi
Joaquin Santolaya-Forgas
Publikationsdatum
29.03.2017
Verlag
Springer US
Erschienen in
Journal of Assisted Reproduction and Genetics / Ausgabe 6/2017
Print ISSN: 1058-0468
Elektronische ISSN: 1573-7330
DOI
https://doi.org/10.1007/s10815-017-0907-5

Weitere Artikel der Ausgabe 6/2017

Journal of Assisted Reproduction and Genetics 6/2017 Zur Ausgabe

Hirsutismus bei PCOS: Laser- und Lichttherapien helfen

26.04.2024 Hirsutismus Nachrichten

Laser- und Lichtbehandlungen können bei Frauen mit polyzystischem Ovarialsyndrom (PCOS) den übermäßigen Haarwuchs verringern und das Wohlbefinden verbessern – bei alleiniger Anwendung oder in Kombination mit Medikamenten.

ICI-Therapie in der Schwangerschaft wird gut toleriert

Müssen sich Schwangere einer Krebstherapie unterziehen, rufen Immuncheckpointinhibitoren offenbar nicht mehr unerwünschte Wirkungen hervor als andere Mittel gegen Krebs.

Weniger postpartale Depressionen nach Esketamin-Einmalgabe

Bislang gibt es kein Medikament zur Prävention von Wochenbettdepressionen. Das Injektionsanästhetikum Esketamin könnte womöglich diese Lücke füllen.

Bei RSV-Impfung vor 60. Lebensjahr über Off-Label-Gebrauch aufklären!

22.04.2024 DGIM 2024 Kongressbericht

Durch die Häufung nach der COVID-19-Pandemie sind Infektionen mit dem Respiratorischen Synzytial-Virus (RSV) in den Fokus gerückt. Fachgesellschaften empfehlen eine Impfung inzwischen nicht nur für Säuglinge und Kleinkinder.

Update Gynäkologie

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