Chromosomal abnormalities detected by karyotyping and microarray analysis in twins with structural anomalies

作者：Lin Li, Zhiming He, Xuan Huang, Shaobin Lin, Junrong Wu, Linhuan Huang, Y. Wan, Qun Fang · 发表于：Ultrasound in Obstetrics and Gynecology · 年份：2019 · DOI：10.1002/uog.20287 · 被引用次数：19 · 研究领域：Prenatal Screening and Diagnostics、Assisted Reproductive Technology and Twin Pregnancy、Congenital Anomalies and Fetal Surgery

OBJECTIVES: To evaluate the incidence and types of chromosomal abnormalities detected in twins with structural anomalies and compare their distribution according to chorionicity and amnionicity and by structural-anomaly type. The added value of chromosomal microarray analysis (CMA) over conventional karyotyping in twins was also estimated. METHODS: This was a single-center, retrospective analysis of 534 twin pregnancies seen over an 11-year period, in which one or both fetuses were diagnosed with congenital structural anomalies on ultrasound. The ultrasound findings and invasive prenatal diagnostic results were reviewed. Twin pregnancies were categorized as monochorionic monoamniotic (MCMA), monochorionic diamniotic (MCDA) or dichorionic diamniotic (DCDA). Chromosomal abnormalities detected by G-banding karyotyping and/or CMA were analyzed by chorionicity and amnionicity and by structural-anomaly type. RESULTS: The 534 twin pairs analyzed comprised 25 pairs of MCMA, 112 pairs of MCDA and 397 pairs of DCDA twins. Of the 549 fetuses affected by structural anomalies, 432 (78.7%) underwent invasive prenatal testing and cytogenetic results were obtained. The incidence of overall chromosomal abnormalities in the DCDA fetuses (25.4%) was higher than that in the MCMA (3.7%) and MCDA (15.3%) fetuses. The incidence of aneuploidy was significantly higher in the DCDA group (22.8%) than in the MCMA (0.0%) and MCDA (12.4%) groups. The incidence of chromosomal abnormalities detected in fetu...