PDF(Pubmed)
Abstract：
Prenatal genetic counseling of fetuses diagnosed with 15q11.2 copy number variants (CNVs) involving the BP1-BP2 region is difficult due to limited information and controversial opinion on prognosis. In total, we collected the data of 36 pregnant women who underwent prenatal microarray analysis from 2010 to 2017 and were assessed at National Taiwan University Hospital. Comparison of the maternal characteristics, prenatal ultrasound findings, and postnatal outcomes among the different cases involving the 15q11.2 BP1-BP2 region were presented. Out of the 36 fetuses diagnosed with CNVs involving the BP1-BP2 region, five were diagnosed with microduplications and 31 with microdeletions. Among the participants, 10 pregnant women received termination of pregnancy and 26 gave birth to healthy individuals (27 babies in total). The prognoses of 15q11.2 CNVs were controversial and recent studies have revealed its low pathogenicity. In our study, the prenatal abnormal ultrasound findings were recorded in 12 participants and were associated with 15q11.2 deletions. No obvious developmental delay or neurological disorders were detected in early childhood.
摘要：
由于信息有限和对预后有争议的观点，诊断为涉及BP1-BP2区域的15q11.2拷贝数变异（CNV）的胎儿的产前遗传咨询很困难。总的来说,我们收集了2010年至2017年接受产前微阵列分析的36例孕妇的数据,并在国立台湾大学医院接受评估.比较母性特征，产前超声检查结果，介绍了涉及15q11.2BP1-BP2区域的不同病例的产后结局。在36例诊断为涉及BP1-BP2区域的CNV的胎儿中，5例被诊断出微重复,31例被诊断出微缺失.在参与者中，10名孕妇终止妊娠，26名生下健康个体（共27名婴儿）。15q11.2CNV的预后存在争议，最近的研究表明其低致病性。在我们的研究中,在12名参与者中记录了产前异常超声检查结果,并与15q11.2缺失相关.在儿童早期未发现明显的发育迟缓或神经系统疾病。
