NDLI: Pregnancy outcome in carriers of Robertsonian translocations.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Keymolen, Kathelijn Van Berkel, Kim Vorsselmans, Anniek Staessen, Catherine Liebaers, Inge
Spatial Coverage	Belgium
Description	Country affiliation: Belgium Author Affiliation: Keymolen K ( Department of Gynaecology and Obstetrics, UZ Brussel, Belgium. kathelijn.keymolen@uzbrussel.be)
Abstract	Robertsonian translocation carriers are at increased risk for infertility, spontaneous abortions, or chromosomally unbalanced offspring. Reproductive counseling of these carriers is challenging. We performed a retrospective analysis of all prenatal diagnoses from Robertsonian translocation carriers during the time period January 1, 1992 through December 31, 2007. Data on the carriers and the results of their prenatal analyses were retrieved as well as data on their previous pregnancies. We identified 28 female and 20 male carriers of Robertsonian translocations and results on 79 prenatal samples were obtained. Among female carriers, 10.3% of chorionic villus sampling and 5.9% of amniocentesis results were unbalanced, whereas for male carriers, this was 3.6% and 0%, respectively. When considering all pregnancies involving carriers, 52.7% of those to female carriers and 61.8% of those to male carriers led to the birth of a healthy child. Male carriers in whom the translocation was ascertained because of infertility or recurrent miscarriages appear to be at higher risk, whereas carriers in whom ascertainment was because of a family history are at lower risk. We conclude that pregnancies of Robertsonian translocation carriers are at increased risk for chromosomal imbalance, and prenatal chromosomal testing should be discussed. More than half of the pregnancies led to the birth of a healthy child, but prediction of which couples will be successful in obtaining a pregnancy with or without assisted reproductive technologies and/or embryo selection remains difficult. The reason for ascertainment of the translocation should be taken into account when counseling these couples. The possibility of preimplantation genetic diagnosis should also be discussed with the couples.
File Format	HTM / HTML
ISSN	15524825
Issue Number	10
Volume Number	155A
e-ISSN	15524833
Journal	American Journal of Medical Genetics Part A
Language	English
Publisher	Wiley-Blackwell
Publisher Date	2011-10-01
Publisher Place	United States
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Discipline Human Discipline Genetics Pregnancy Outcome Translocation, Genetic Physiology Belgium Female Humans Male Pedigree Pregnancy Retrospective Studies Risk Factors Questionnaires Genetics Journal Article
Content Type	Text
Resource Type	Article
Subject	Genetics Genetics (clinical)

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Genetic counseling in Robertsonian translocations der(13;14): frequencies of reproductive outcomes and infertility in 101 pedigrees.

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Successful PGD cycles for mosaic Robertsonian translocation carriers provide insights into the mechanism of formation of the derivative chromosomes.

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