TY - JOUR
T1 - The yield of chromosomal microarray analysis among pregnancies terminated due to fetal malformations
AU - Pasternak, Yael
AU - Daykan, Yair
AU - Tenne, Tamar
AU - Reinstein, Eyal
AU - Miller, Netanella
AU - Shechter-Maor, Gil
AU - Maya, Idit
AU - Biron-Shental, Tal
AU - Sukenik Halevy, Rivka
N1 - Publisher Copyright:
© 2020 Informa UK Limited, trading as Taylor & Francis Group.
PY - 2022
Y1 - 2022
N2 - Background: Chromosomal microarray analysis (CMA) is preferred for genetic work-up when fetal malformations are detected prenatally. Objectives: To assess the detection rate of CMA after pregnancy termination due to abnormal ultrasound findings. Methods: CMA was successfully performed in 71 pregnancies using fetal DNA (mainly from skin) or placenta. Data regarding clinical background, pregnancy work-up, and CMA were analyzed. Results: Findings were abnormal in 17 cases (23.9%), of which 13 were detectable by karyotype. The incremental yield of CMA was 4/71 (5.6%); 1/32 (3.1%) for cases with an isolated anomaly and 3/39 (7.7%) for cases with nonisolated anomalies. Conclusions: CMA yield from terminated pregnancies was 23.9%. Although most chromosomal abnormalities are detectable by karyotype, CMA does not require viable dividing cells; hence, it is more practical for work-up after termination. In most cases, the diagnosis was followed by consultation regarding the risk of recurrence and recommendations for testing in subsequent pregnancies.
AB - Background: Chromosomal microarray analysis (CMA) is preferred for genetic work-up when fetal malformations are detected prenatally. Objectives: To assess the detection rate of CMA after pregnancy termination due to abnormal ultrasound findings. Methods: CMA was successfully performed in 71 pregnancies using fetal DNA (mainly from skin) or placenta. Data regarding clinical background, pregnancy work-up, and CMA were analyzed. Results: Findings were abnormal in 17 cases (23.9%), of which 13 were detectable by karyotype. The incremental yield of CMA was 4/71 (5.6%); 1/32 (3.1%) for cases with an isolated anomaly and 3/39 (7.7%) for cases with nonisolated anomalies. Conclusions: CMA yield from terminated pregnancies was 23.9%. Although most chromosomal abnormalities are detectable by karyotype, CMA does not require viable dividing cells; hence, it is more practical for work-up after termination. In most cases, the diagnosis was followed by consultation regarding the risk of recurrence and recommendations for testing in subsequent pregnancies.
KW - Abnormal ultrasound findings
KW - chromosomal microarray analysis
KW - copy number variations
KW - genetic work-up
KW - termination of pregnancy
UR - http://www.scopus.com/inward/record.url?scp=85078503433&partnerID=8YFLogxK
U2 - 10.1080/14767058.2020.1716722
DO - 10.1080/14767058.2020.1716722
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C2 - 31973614
AN - SCOPUS:85078503433
SN - 1476-7058
VL - 35
SP - 336
EP - 340
JO - Journal of Maternal-Fetal and Neonatal Medicine
JF - Journal of Maternal-Fetal and Neonatal Medicine
IS - 2
ER -