Indications for genetic testing leading to termination of pregnancy.
Chromosomal aberrations
Chromosomal microarray analysis (CMA)
Single gene mutation
Termination of pregnancy
Trend
Journal
Archives of gynecology and obstetrics
ISSN: 1432-0711
Titre abrégé: Arch Gynecol Obstet
Pays: Germany
ID NLM: 8710213
Informations de publication
Date de publication:
11 2019
11 2019
Historique:
received:
04
05
2019
accepted:
03
09
2019
pubmed:
19
9
2019
medline:
12
5
2020
entrez:
19
9
2019
Statut:
ppublish
Résumé
In this study, we aimed to assess the distribution of genetic abnormalities leading to termination of pregnancy and its fluctuation during the past 8 years in light of those technical advances. Our cohort consisted of all pregnant women who underwent termination of pregnancy because of genetic aberrations in their fetuses from January 2010 through April 2018 in our medical center. The information that was gathered included: maternal age, results of the nuchal scan, results of the first- and second-trimester biochemical screening, ultrasonographic findings, reasons for conducting a genetic evaluation, gestational age at which termination of pregnancy was carried out, and the type of genetic aberration. 816 women underwent termination of pregnancy at our institution due to genetic aberrations, most of them because of positive biochemical screening (n = 297, 36%) or because of maternal anxiety (n = 283, 35%). Findings in chromosomal microarray led to termination of pregnancy in 100 women (100/816, 12%). Chromosomal microarray had been performed due to maternal choice and not because of accepted medical indications among most of the women who underwent termination of pregnancy due to findings on chromosomal microarray (69/100, 69%). Performing chromosomal microarray on a structurally normal fetus and identifying abnormal copy number variants may give the parents enough information for deciding on the further course of the pregnancy.
Identifiants
pubmed: 31529364
doi: 10.1007/s00404-019-05289-4
pii: 10.1007/s00404-019-05289-4
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM