Prenatal diagnosis for a fetus with 5p deletion syndrome.
10.3760/cma.j.cn511374-20220103-00002
- Author:
Jun WANG
1
;
Weiguo ZHANG
;
Huanli YANG
;
Xuejuan MA
;
Jiexian LI
;
Xing CHEN
Author Information
1. Reproductive Center, Zhejiang Taizhou Hospital, Taizhou, Zhejiang 317000, China. zhangwgtzhospital@163.com.
- Publication Type:Journal Article
- MeSH:
Pregnancy;
Female;
Humans;
Cri-du-Chat Syndrome;
In Situ Hybridization, Fluorescence;
DNA Copy Number Variations;
Prenatal Diagnosis;
Fetus;
Amniotic Fluid;
Chromosome Deletion
- From:
Chinese Journal of Medical Genetics
2023;40(1):101-104
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the genetic basis for a fetus with club foot detected upon mid-pregnancy ultrasonography.
METHODS:Amniotic fluid of the fetus and peripheral blood samples of its parents were collected and subjected to G-banding karyotype analysis and copy number variation sequencing (CNV-seq). The result was verified by fluorescence in situ hybridization (FISH).
RESULTS:The fetus and its parents all had a normal karyotype. CNV-seq analysis revealed that the fetus has harbored a 23.12 Mb on chromosome 5 and a 21.46 Mb duplication on chromosome 7. FISH assay has verified that its mother has carried a cryptic t(5;7)(p14.3;q33) translocation.
CONCLUSION:CNV-seq combined with FISH can effectively detect cryptic chromosome aberrations, and can help to reduce severe birth defects and provide a basis for prenatal genetic counseling.
