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Article

Prenatal case of RIT1 mutation associated Noonan syndrome by whole exome sequencing (WES) and review of the literature.

Taiwanese journal of obstetrics & gynecology - 1 May 2022

Qiu Zilong, Chang Wan-Ting, Chou Yu-Ching, Wen Kuo-Chang, Ziying Yang, Yuen Kayiu, Cai Xiongying, Chang Tung-Yao, Lai Hung-Cheng, Sung Pi-Lin

Abstract excerpt

OBJECTIVE: We aimed to identify the genetic cause of one hydrops fetalis with Noonan syndrome (NS) manifestations including increased nuchal translucency (INT) and ascites through prenatal whole exome sequencing (WES). CASE REPORT: The case is a gestational age (GA) 18 fetus of two healthy parents with a normal child. We proceeded the genomic DNA from both fetus amniotic cells and parents to WES and identified a...

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PMID: 35595454
DOI: 10.1016/j.tjog.2022.03.025

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