Akinesia deformation sequence in a fetus suspected by prenatal ultrasound and confirmed after mid-term termination
10.3760/cma.j.cn113903-20210910-00784
- VernacularTitle:产前超声疑似胎儿运动不能畸形序列征引产后确诊1例
- Author:
Xinyao LUO
1
;
Qiuyang GU
;
Xinxiu LIU
;
Jianhua LI
;
Liyan HUANG
;
Xiaohua HUANG
;
Shengnan WU
;
Jingping YANG
;
Meihua TAN
Author Information
1. 福建医科大学附属第一医院超声影像科，福州 350005
- Keywords:
Arthrogryposis;
Ultrasonography, prenatal;
Whole exome sequencing;
High- throughput nucleotide sequencing
- From:
Chinese Journal of Perinatal Medicine
2022;25(3):218-221
- CountryChina
- Language:Chinese
-
Abstract:
We report a case of fetal akinesia deformation sequence (FADS), which was prenatally suspected on ultrasound and confirmed by whole exome sequencing and Sanger sequencing after mid-term termination. Prenatal ultrasonography revealed multiple abnormalities in a fetus at 21 +4 weeks of gestation, consisting of fixed posture of limbs, narrow thorax, markedly shrunken gastric vacuole, and thickened nuchal fold. After genetic counseling, the pregnancy was terminated, and the appearance of the fetus was consistent with the ultrasound findings. Whole exome sequencing and Sanger sequencing of the fetal tissue verified a compound heterozygous variation of the RAPSN gene--c.149_153delins AGATGGGCCGCTACAAGGAGATGG (p.V50Efs*114) and c.227T>C (p.L76P), which were inherited from the father and mother, respectively, ultimately confirming the diagnosis of FADS.
