Indications for genetic testing leading to termination of pregnancy
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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.
KeywordsChromosomal aberrations Chromosomal microarray analysis (CMA) Single gene mutation Termination of pregnancy Trend
SR: project development, data collection, manuscript writing. PM: data collection, manuscript writing. RU: statistical analysis, manuscript writing. MR: project development, manuscript writing.
Compliance with ethical standards
Conflict of interest
The authors declare that they have no conflict of interest.
The local IRB committee approved this retrospective study (approval 0008-17-ASF), without requiring informed consent since this is a retrospective study, all the data were gathered using complete anonymity, and it is not applicable to our manuscript.
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