Prenatal diagnosis of a fetus with chromosome 18p deletion and duplication.
10.3760/cma.j.cn511374-20200713-00509
- Author:
Wenwen LI
1
;
Huifen SHAO
;
Juan YAO
;
Chunxia SHI
;
Xinmiao YANG
;
Jinghui ZHANG
;
Xinli ZHANG
;
Guosong SHEN
Author Information
1. Prenatal Diagnosis Center, Huzhou Women and Children's Health Care Hospital, Huzhou, Zhejiang 313000, China. shenguosong11@163.com.
- Publication Type:Journal Article
- MeSH:
Chromosome Deletion;
Chromosomes;
Female;
Fetus;
Humans;
Karyotyping;
Pregnancy;
Prenatal Diagnosis
- From:
Chinese Journal of Medical Genetics
2021;38(6):569-572
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To assess the value of chromosomal microarray analysis (CMA) to verify a fetus with partial 18p deletion signaled by non-invasive prenatal testing.
METHODS:G-banding chromosomal karyotyping analysis was carried out on amniotic fluid sample of the fetus and peripheral blood samples from the parents. Amniotic DNA was also subjected to CMA analysis. The fetus was also subjected to systematic ultrasound scan.
RESULTS:The fetus was found to have a karyotype of 46,XX,18p+. CMA has revealed a 5 Mb deletion at 18p11.32-p11.31, a 2.9 Mb duplication at 18p11.31-p11.23, and a 2.5 Mb duplication at 18p11.23-p11.22. No chromosomal aberration or microdeletion/microduplication was detected in either parent.
CONCLUSION:Non-invasive prenatal testing and CMA are both sensitive for the detection of chromosomal microdeletions and microduplications. CMA can help with clarification of genotype-phenotype correlation and facilitate prenatal diagnosis and genetic counseling for the family.
