Prenatal diagnosis and genetic analysis of two fetuses with Wolf-Hirschhorn syndrome
10.3760/cma.j.cn511374-20240306-00149
- VernacularTitle:Wolf-Hirschhorn综合征2例胎儿的产前诊断及遗传学分析
- Author:
Fuguang LI
1
;
Aijuan WU
;
Xiaolei XIE
;
Mingxia MA
;
Jiang TANG
;
Suhuan TANG
;
Weihe TAN
;
Weiguo YIN
Author Information
1. 广州医科大学附属清远医院（清远市人民医院），清远 511500
- Keywords:
Wolf-Hirschhorn syndrome;
Chromosomal karyotyping analysis;
Chromosomal microarray analysis;
Prenatal ultrasound screening;
Prenatal diagnosis
- From:
Chinese Journal of Medical Genetics
2024;41(10):1201-1205
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To explore the prenatal ultrasound phenotype and genetic basis of two fetuses with Wolf-Hirschhorn syndrome (WHS).Methods:A retrospective analysis was conducted on the ultrasound imaging data of two fetuses suspected for WHS at the Prenatal Diagnostic Center of Qingyuan People′s Hospital in July 2017 and August 2019, respectively. Amniotic fluid samples of the two fetuses were subjected to chromosomal karyotyping and chromosomal microarray analysis (CMA). This study was approved by Medical Ethics Committee of the Qingyuan People′s Hospital (Ethics No. IRB-2022-064).Results:Prenatal ultrasound examination of the two fetuses had consistently revealed WHS-associated traits including intrauterine growth restriction (IUGR), craniofacial abnormalities and cardiovascular anomalies. Karyotyping analysis suggested that both fetuses had harbored cryptic chromosomal translocations involving partial deletion of 4p. And parental verification revealed that it was de novo for fetus 1 and paternal for fetus 2. CMA has confirmed that fetus 1 had an approximately 8.7 Mb deletion at 4p16.3p16.1 and a 6.8 Mb duplication at 8p23.1p23.1, whilst fetus 2 had a 20.05 Mb deletion at 4p16.3p15.31 and a 7.66 Mb duplication at 9p24.3p24.1. The karyotype of fetus 1 was determined as 46, XN, der(4)t(4; 8)(p16.1; p23.1)dn.arr[hg19]4p16.3p16.1(68345_8721580)×1, 8p23.3p23.1(158048_6933745)×3, and that of fetus 2 was determined as 46, XN, der(4)t(4; 9)(p15.3; p24)dpat.arr[hg19]4p16.3p15.31(68345_20116061)×1, 9p24.3p24.1(208454_7868292)×3. Conclusion:The 4p deletion is probably the main cause for the WHS phenotype in both fetuses. WHS should be suspected when IUGR, renal anomalies, craniofacial and cardiovascular abnormalities are detected upon prenatal ultrasound screening.
