Genetic abnormalities seen on CVS in early pregnancy failure

Objective: To determine the frequency and distribution of chromosome abnormalities in women with early pregnancy failure (EPF) detected by cytogenetic testing on chorionic villus sampling. Method: Retrospective observational cohort study of chromosomal analysis from transvaginal chorionic villus sam...

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Bibliographic Details
Published in:The journal of maternal-fetal & neonatal medicine 2020-07, Vol.33 (13), p.2142-2147
Main Authors: Gimovsky, Alexis C., Pham, Amelie, Moreno, Sindy C., Nicholas, Sara, Roman, Amanda, Weiner, Stuart
Format: Article
Language:English
Subjects:
Abnormal Karyotype - embryology
Abnormal Karyotype - statistics & numerical data
Abortion, Spontaneous - epidemiology
Abortion, Spontaneous - genetics
Adult
Aneuploidy
Chorionic Villi Sampling - statistics & numerical data
Chorionic villus sampling
early pregnancy failure
Female
genetic abnormalities
Humans
Monosomy - genetics
Polyploidy
Pregnancy
Retrospective Studies
Trisomy - genetics
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Summary:Objective: To determine the frequency and distribution of chromosome abnormalities in women with early pregnancy failure (EPF) detected by cytogenetic testing on chorionic villus sampling. Method: Retrospective observational cohort study of chromosomal analysis from transvaginal chorionic villus sampling (CVS) or reflex products of conception (POC) karyotype. CVS was offered as a training tool for Maternal Fetal Medicine fellows prior to manual vacuum aspiration for EPF 9-week gestation. POC were analyzed for cytogenetics if no results were obtained on CVS. Results: One hundred thirty samples were collected from December 2011 to April 2015. 33 (27.3%) cases had a normal karyotype and 88 (73.0%) cases had an abnormal karyotype. The most common group of abnormalities were trisomy, (n = 50, 41.3%), triploidy/tetraploidy, (n = 17, 14.0%), monosomy (n = 15, 12.4%), and structural rearrangements (n = 6, 5.0%). Nine (6.9%) samples were maternal decidua only. Abnormal karyotype in EPF was significantly increased in women by age group (p 
ISSN:1476-7058
1476-4954
DOI:10.1080/14767058.2018.1542677