PDF(Pubmed)
Abstract：
A late adolescent primigravida was found to have a fetus with a cystic hygroma and significant shortening of the limbs on first-trimester ultrasound. She underwent chorionic villus sampling with normal microarray result. In the early second trimester, the fetus was found to have the absence of all four limbs and a thorough skeletal dysplasia workup was pursued, identifying a variant in the FLNB gene (c.62C>G). The patient underwent termination of pregnancy. The care of this patient was expedited by first-trimester sonographic evidence of limb abnormalities enabling timely clinical management.
摘要：
在妊娠早期超声检查中，发现晚期青春期初产妇的胎儿患有囊性水瘤，四肢明显缩短。她接受了绒毛膜绒毛取样，微阵列结果正常。在妊娠中期早期，发现胎儿没有四肢，并进行了彻底的骨骼发育不良检查，鉴定FLNB基因中的变体(c.62C>G)。患者终止妊娠。妊娠早期超声检查肢体异常的证据可以及时进行临床治疗，从而加快了对该患者的护理。
