Madan Ichchha, Jackson Frank, Sahni Simran, Figueroa Reinaldo
Gynecology and Obstetrics, Johns Hopkins University, Baltimore, Maryland, USA.
Obstetrics and Gynecology, Donald and Barbara Zucker School of Medicine at Hofstra/Northwell, Hempstead, New York, USA.
BMJ Case Rep. 2024 Mar 7;17(3):e257998. doi: 10.1136/bcr-2023-257998.
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.
一名青春期晚期初产妇在孕早期超声检查时发现胎儿有颈部水囊瘤且四肢明显短小。她接受了绒毛取样，微阵列结果正常。在孕中期早期，发现胎儿四肢全部缺失，于是进行了全面的骨骼发育异常检查，确定FLNB基因存在一个变异（c.62C>G）。患者接受了终止妊娠。由于孕早期超声显示肢体异常，使得能够及时进行临床管理，从而加快了对该患者的护理。
