医学
羊水过少
外显子组测序
植入前遗传学诊断
遗传性疾病
产前诊断
胎儿
遗传咨询
外显子组
产科
突变
怀孕
儿科
遗传学
疾病
病理
生物
基因
作者
Tsung-Yin Ou,Meng‐Che Tsai,Pao‐Lin Kuo,Ni‐Chung Lee,Yen-Yin Chou
标识
DOI:10.1016/j.tjog.2022.03.022
摘要
To demonstrate the picture of a woman who had three times of pregnancies but fetuses were complicated with Fraser syndrome, a rare genetic disorder with multiple congenital anomalies.Here are three complicated pregnancies with predominant features of severe oligohydramnios and other variable intrafamilial presentations. We made a definite diagnosis, Fraser syndrome, with the assistance of whole exome sequencing (WES) via umbilical blood of the second and third fetus. The provision of a preimplantation diagnosis helped contribute a healthy newborn in this family.This paper provides insights into obscure antenatal presentations of Fraser syndrome with intrafamilial variance. Clinical uncertainty at the fetal stage suggests the role of WES to reach a final diagnosis, and a preimplantation diagnosis is applicable to avoid recurrence of genetic disorders in subsequent pregnancies.
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