ArticleActa informatica medica : AIM : journal of the Society for Medical Informatics of Bosnia & Herzegovina : casopis Drustva za medicinsku informatiku BiH2021
Karyotyping and Chromosomal Microarray Analysis in Women Requesting Amniocentesis for Isolated Sonographic Soft Markers or Advanced Maternal Age.
Article in Acta informatica medica : AIM : journal of the Society for Medical Informatics of Bosnia & Herzegovina : casopis Drustva za medicinsku informatiku BiH, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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1 citing paper in PubMed, 3 citations in OpenAlex.
- Fetal Copy Number Variant Detection in Pregnancies with Ultrasound Soft Markers: A Maternal Age-Stratified Retrospective Study.International journal of general medicine · 2026Article
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4 authors at 1 institution in 1 country.
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Abstract
backgroundChromosomal microarray analysis (CMA) has gained acceptance in prenatal diagnosis, gradually replacing the traditional cytogenetic analysis following amniocentesis or chorionic villi sampling due to its higher resolution than traditional cytogenetics. OBJCTIVE: The present study investigated the prevalence of major and sub-chromosomal abnormalities in fetuses with isolated ultrasound findings during routine anatomy scan or pregnancies of advanced maternal age after maternal request without medical indication.
methodsTotal number of 126 cases were included in total, consisted of two groups; the first group with isolated sonographic soft markers (84 fetuses) and the second group of advanced maternal age (42 fetuses). The group of isolated sonographic markers was further divided per anatomical system affected. The prevalence of genetic aberrations via QF-PCR and CMA was noted.
resultsClinically significant genetic abnormalities were detected in 12% of the first and 7% of cases in the second group. Interestingly, 40% and 67% of abnormal cases in the first and second group respectively, were identified only after CMA, and they would have missed diagnosis with standard karyotype or QF-PCR alone. Most genetic aberrations were detected in fetuses with findings in the central nervous, craniofacial, cardiovascular, and musculoskeletal system. Sub-microscopic chromosomal aberrations identified only after CMA were gathered in cases with short long bones and in one case with ventriculomegaly.
conclusionEven in pregnancies with a first trimester screening low risk result, the risk of identifying a clinically significant CMA aberration is considerable, when an isolated sonographic marker is identified later on in pregnancy or maternal age is advanced.
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