■为了分享我们对威廉姆斯-贝伦综合征(WBS)的产前诊断的经验,并提高人们的认识,诊断,和宫内监测这种疾病的胎儿。
■本研究回顾性评估了通过单核苷酸多态性阵列(SNP-array)在产前诊断的14例WBS。对这些病例的临床数据进行了系统回顾,包括产妇人口统计,侵入性产前诊断的适应症,超声检查结果,SNP阵列结果,三医学外显子组测序(Trio-MES)结果,QF-PCR结果,妊娠结局和随访。
■共有14例胎儿被诊断为WBS,并对其产前表型进行回顾性评估。在我们的案例系列中,最常见的超声特征是宫内发育迟缓(IUGR),先天性心血管缺陷,胎儿胎盘多普勒指数异常,颈部半透明增厚(NT)和羊水过多。其他不太常见的超声特征包括胎儿水肿,水皮病,双侧胸腔积液,室管膜下囊肿,等。对7对父母进行了父母染色体分析,染色体7q11.23上的所有缺失都是从头的。
■WBS病例的产前超声特征变化很大,与IUGR,心血管异常和胎儿胎盘多普勒指数异常,是最常见的宫内表型。我们的病例系列扩展了WBS的宫内表型,包括心血管异常右主动脉弓(RAA)合并持续性右脐静脉(PRUV),并升高了收缩末期峰值流速与舒张末期峰值流速(S/D)的比率。同时,随着下一代测序成本的降低,该方法可能在不久的将来被广泛用于产前诊断。
UNASSIGNED: To share our experience on prenatal diagnosis of Williams-Beuren syndrome(WBS) and to improve the awareness, diagnosis, and intrauterine monitoring of the fetuses of this disease.
UNASSIGNED: The study retrospectively evaluated 14 cases of WBS diagnosed prenatally by single nucleotide polymorphism array (SNP-array). Clinical data from these cases were systematically reviewed, including maternal demographics, indications for invasive prenatal diagnosis, ultrasound findings, SNP-array results, trio-medical exome sequencing (Trio-MES) results, QF-PCR results, pregnancy outcomes and follow-ups.
UNASSIGNED: A total of 14 fetuses were diagnosed with WBS and their prenatal phenotypes were assessed retrospectively. In our case series, the most common ultrasound features were intrauterine growth retardation (IUGR), congenital cardiovascular defects, abnormal fetal placental doppler indices, thickened nuchal translucency(NT) and polyhydramnios. Other less common ultrasound features include fetal hydrops, hydroderma, bilateral pleural effusion, subependymal cysts, etc. Parental chromosome analysis was performed in seven pairs of parents, and all the deletions on chromosome 7q11.23 were de novo.
UNASSIGNED: Prenatal ultrasound features of WBS cases are highly variable, with IUGR, cardiovascular abnormalities and abnormal fetal placental doppler indices, being the most common intrauterine phenotypes. Our case series expand the intrauterine phenotypes of WBS, including cardiovascular abnormalities right aortic arch(RAA) combined with persistent right umbilical vein(PRUV) and elevated the ratio of end-systolic peak flow velocity to end-diastonic peak flow velocity(S/D). In the meantime, with the decrease in the cost of the next-generation sequencing, the method may become widely used in prenatal diagnosis in the near future.