Journal
JOURNAL OF PERINATAL MEDICINE
Volume 46, Issue 9, Pages 975-982Publisher
WALTER DE GRUYTER GMBH
DOI: 10.1515/jpm-2017-0071
Keywords
Amniocentesis; chromosomal microarray analyses; karyotype; late abnormalities; third trimester; ultrasound
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Objective: To determine the rate of chromosomal cytogenetic abnormalities in fetuses with late onset abnormal sonographic findings. Design: Retrospective cohort of women who underwent amniocentesis at or beyond 23 weeks of gestation, for fetal karyotype and chromosomal microarray analysis, indicated due to late onset abnormal sonographic findings. Results: All 103 fetuses had a normal karyotype. Ninety-five women also had chromosomal microarray analysis (CMA) performed. The detection rate of abnormal CMA (5/95, 5.3%) was similar to that of women who underwent amniocentesis due to abnormal early onset ultrasound findings detected at routine prenatal screening tests during the first or early second trimester (7.3%, P = 0.46) and significantly higher than that for women who underwent amniocentesis and CMA upon request, without a medical indication for CMA (0.99%, P < 0.0001). Conclusions: Late onset sonographic findings are an indication for amniocentesis, and if performed, CMA should be applied to evaluate fetuses with late onset abnormal sonographic findings.
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