Skip to main content
Erschienen in: Journal of Assisted Reproduction and Genetics 7/2011

01.07.2011 | Genetics

Broadening our understanding by the use of molecular cytogenetic techniques: full monosomy 21

verfasst von: Monica Martinez-Garcia, Eva Ainse, Maria García-Hoyos, Ana Bustamante, Rocio Cardero, Carmen Ramos-Corrales, Maria Jose Trujillo-Tiebas, Marta Rodriguez de Alba, Isabel Lorda

Erschienen in: Journal of Assisted Reproduction and Genetics | Ausgabe 7/2011

Einloggen, um Zugang zu erhalten

Excerpt

Multiple risk factors such as exposure to teratogens, advanced parental age, anatomic anomalies of the mother, genetic diseases and chromosomal anomalies are involved in embryo loss. Spontaneous abortions occur in approximately 10–15% of clinically recognised pregnancies. Most women who miscarry are not informed of the cause of their pregnancy loss, thereby causing them anxiety, confusion, low self-esteem and depression [1, 2]. Knowledge of the causes of spontaneous abortion reduces both stress and the feeling of culpability that occur after miscarriage [1]. …
Literatur
1.
Zurück zum Zitat Nikcevic AV, Tunkel SA, Kuczmierczyk AR, Nicolaides KH. Investigation of the cause of miscarriage and its influence on women’s psychological distress. Br J Obstet Gynaecol. 1999;106(8):808–13.PubMedCrossRef Nikcevic AV, Tunkel SA, Kuczmierczyk AR, Nicolaides KH. Investigation of the cause of miscarriage and its influence on women’s psychological distress. Br J Obstet Gynaecol. 1999;106(8):808–13.PubMedCrossRef
2.
Zurück zum Zitat Griebel CP, Halvorsen J, Golemon T, Day AA. Management of spontaneous abortion. Am Fam Physician. 2005;72(7):1243–9.PubMed Griebel CP, Halvorsen J, Golemon T, Day AA. Management of spontaneous abortion. Am Fam Physician. 2005;72(7):1243–9.PubMed
3.
Zurück zum Zitat Hassold T, Chen N, Funkhouser J, Jooss T, Manuel B, Matsuura J, et al. A cytogenetic study of 1000 spontaneous abortions. Ann Hum Genet. 1980;44:151–78.PubMedCrossRef Hassold T, Chen N, Funkhouser J, Jooss T, Manuel B, Matsuura J, et al. A cytogenetic study of 1000 spontaneous abortions. Ann Hum Genet. 1980;44:151–78.PubMedCrossRef
4.
Zurück zum Zitat Diego-Alvarez D, Ramos-Corrales C, Garcia-Hoyos M, Bustamante-Aragones A, Cantalapiedra D, Diaz-Recasens J, et al. Double trisomy in spontaneous miscarriages: cytogenetic and molecular approach. Hum Reprod. 2006;21(4):958–66.PubMedCrossRef Diego-Alvarez D, Ramos-Corrales C, Garcia-Hoyos M, Bustamante-Aragones A, Cantalapiedra D, Diaz-Recasens J, et al. Double trisomy in spontaneous miscarriages: cytogenetic and molecular approach. Hum Reprod. 2006;21(4):958–66.PubMedCrossRef
5.
Zurück zum Zitat Mori MA, Lapunzina P, Delicado A, Núñez G, Rodríguez JI, de Torres ML, et al. A prenatally diagnosed patient with full monosomy 21: ultrasound, cytogenetic, clinical, molecular, and necropsy findings. Am J Med Genet A. 2004;15:69–73.CrossRef Mori MA, Lapunzina P, Delicado A, Núñez G, Rodríguez JI, de Torres ML, et al. A prenatally diagnosed patient with full monosomy 21: ultrasound, cytogenetic, clinical, molecular, and necropsy findings. Am J Med Genet A. 2004;15:69–73.CrossRef
6.
Zurück zum Zitat Patton S, Stenhouse S. Draft best practice guidelines for laboratory internal quality control. 2001. Available on European Molecular Quality Network website (www.emqn.org). Patton S, Stenhouse S. Draft best practice guidelines for laboratory internal quality control. 2001. Available on European Molecular Quality Network website (www.​emqn.​org).
7.
Zurück zum Zitat Adinolfi M, Pertl B, Sherlock J. Rapid detection of aneuploidies by microsatellite and the quantitative fluorescent polymerase chain reaction. Prenat Diagn. 1997;17(13):1299–311.PubMedCrossRef Adinolfi M, Pertl B, Sherlock J. Rapid detection of aneuploidies by microsatellite and the quantitative fluorescent polymerase chain reaction. Prenat Diagn. 1997;17(13):1299–311.PubMedCrossRef
8.
Zurück zum Zitat Schouten JP, McElgunn CJ, Waaijer R, Zwijnenburg D, Diepvens F, Pals G. Relative quantification of 40 nucleic acid sequences by multiplex ligation- dependent probe amplification. Nucleic Acids Res. 2002;30:e57.PubMedCrossRef Schouten JP, McElgunn CJ, Waaijer R, Zwijnenburg D, Diepvens F, Pals G. Relative quantification of 40 nucleic acid sequences by multiplex ligation- dependent probe amplification. Nucleic Acids Res. 2002;30:e57.PubMedCrossRef
9.
Zurück zum Zitat Solinas-Toldo S, Lampel S, Stilgenbauer S, Nickolenko J, Benner A, Döhner H, et al. Matrix-based comparative genomic hybridization: biochips to screen for genomic imbalances. Gene Chromosome Canc. 1997;20(4):399–407.CrossRef Solinas-Toldo S, Lampel S, Stilgenbauer S, Nickolenko J, Benner A, Döhner H, et al. Matrix-based comparative genomic hybridization: biochips to screen for genomic imbalances. Gene Chromosome Canc. 1997;20(4):399–407.CrossRef
10.
Zurück zum Zitat Manolakos E, Peitsidis P, Eleftheriades M, Dedoulis E, Ziegler M, Orru S, et al. Prenatal detection of full monosomy 21 in a fetus with increased nuchal translucency: molecular cytogenetic analysis and review of the literature. J Obstet Gynaecol Res. 2010;36(2):435–40.PubMedCrossRef Manolakos E, Peitsidis P, Eleftheriades M, Dedoulis E, Ziegler M, Orru S, et al. Prenatal detection of full monosomy 21 in a fetus with increased nuchal translucency: molecular cytogenetic analysis and review of the literature. J Obstet Gynaecol Res. 2010;36(2):435–40.PubMedCrossRef
Metadaten
Titel
Broadening our understanding by the use of molecular cytogenetic techniques: full monosomy 21
verfasst von
Monica Martinez-Garcia
Eva Ainse
Maria García-Hoyos
Ana Bustamante
Rocio Cardero
Carmen Ramos-Corrales
Maria Jose Trujillo-Tiebas
Marta Rodriguez de Alba
Isabel Lorda
Publikationsdatum
01.07.2011
Verlag
Springer US
Erschienen in
Journal of Assisted Reproduction and Genetics / Ausgabe 7/2011
Print ISSN: 1058-0468
Elektronische ISSN: 1573-7330
DOI
https://doi.org/10.1007/s10815-011-9569-x

Weitere Artikel der Ausgabe 7/2011

Journal of Assisted Reproduction and Genetics 7/2011 Zur Ausgabe

Update Gynäkologie

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