Prenatal diagnosis of a fetus with X chromosome inversion
10.3760/cma.j.cn113903-20241101-00731
- VernacularTitle:产前诊断X染色体倒位胎儿1例
- Author:
Pingxia XIANG
1
;
Bin ZHOU
1
;
Ling LIU
1
;
Hui HUANG
1
Author Information
1. 华中科技大学同济医学院附属武汉儿童医院（武汉市妇幼保健院）遗传与精准医学实验室，武汉 430016
- Publication Type:Journal Article
- Keywords:
X chromosome inversion;
Karyotype analysis of amniotic fluid;
Copy number variation sequencing;
Prenatal diagnosis
- From:
Chinese Journal of Perinatal Medicine
2025;28(5):429-430
- CountryChina
- Language:Chinese
-
Abstract:
This report described a prenatal diagnosis of X chromosome inversion in a male fetus. A pregnant woman was referred for prenatal diagnosis at Wuhan Children's Hospital, Tongji Medical College, Huazhong University of Science and Technology, at 12 weeks and 2 days of gestation due to an increased nuchal translucency thickness (2.8 mm). Amniotic fluid cell culture for karyotype analysis revealed a fetal karyotype of 46,Y,inv(X)(p11.2q22). Low-coverage whole-genome copy number variation (CNV) sequencing detected no chromosomal aneuploidies or known pathogenic CNVs larger than 100 kb. After comprehensive genetic counseling, the patient opted to continue the pregnancy. A male infant was delivered via cesarean section at 39 weeks of gestation, with no signs of neonatal asphyxia. Phenotypic examination and newborn screening for inherited metabolic disorders showed no abnormalities.
