Prenatal Genetic Diagnosis Unit & Genetic Institute, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Prenat Diagn. 2017 Aug;37(8):808-811. doi: 10.1002/pd.5092. Epub 2017 Jul 12.
The objective of this study is to evaluate the incidence of chromosomal aberration (both microscopic and sub-microscopic) in fetuses with an aberrant right subclavian artery (ARSA) detected by ultrasonographic anomaly scan.
The study included 62 pregnant women whose fetuses were diagnosed with ARSA who were referred for genetic counseling. Of these, 55 patients underwent amniocentesis and 7 declined invasive testing. All 55 amniocentesis samples were tested by standard G-banding and chromosomal microarray, except for 2 samples for which only karyotype and fluorescence in situ hybridization for 22q11.2 deletions were performed.
Of the 55 women who underwent amniocentesis, 5 were detected with trisomy 21 (9.1%), all of whom had additional ultrasound findings. Among the 14 fetuses with ARSA and additional ultrasound findings, the incidence of trisomy 21 was 35.7%. In fetuses with isolated ARSA, no chromosomal aberrations were detected by standard cytogenetic analysis and only one (1.9%) deleterious copy number variants (CNV) was detected by chromosomal microarray.
Aberrant right subclavian artery with additional ultrasound findings constitute a strong predictor for aneuploidy. However, when ARSA is found in isolation, it confers no increased risk for aneuploidy or pathogenic CNVs. © 2017 John Wiley & Sons, Ltd.
本研究旨在评估超声异常扫描检测到的胎儿右锁骨下动脉异常（包括显微镜下和亚显微镜下）的染色体异常（包括显微镜下和亚显微镜下）发生率。
本研究纳入了 62 名因胎儿右锁骨下动脉异常而接受遗传咨询的孕妇。其中 55 名患者接受了羊膜穿刺术，7 名患者拒绝了有创性检查。除了 2 名仅进行了 21 号染色体三体核型分析和 22q11.2 缺失荧光原位杂交的患者外，其余 55 例羊膜穿刺术样本均进行了标准 G 带和染色体微阵列分析。
在接受羊膜穿刺术的 55 名女性中，有 5 名被检测出 21 三体（9.1%），均有其他超声表现。在 14 名有右锁骨下动脉异常且有其他超声表现的胎儿中，21 三体的发生率为 35.7%。在孤立性右锁骨下动脉异常的胎儿中，标准细胞遗传学分析未发现染色体异常，仅通过染色体微阵列检测到 1 种（1.9%）有害拷贝数变异（CNV）。
伴有其他超声表现的右锁骨下动脉异常是染色体非整倍体的强烈预测因素。然而，当孤立性右锁骨下动脉异常时，不会增加非整倍体或致病性 CNV 的风险。© 2017 约翰威立父子公司
