Clinical Genetics
Prenatal diagnosis of a fetus with chromosome 18p deletion and duplication
Li Wenwen, Shao Huifen, Yao Juan, Shi Chunxia, Yang Xinmiao, Zhang Jinghui, Zhang Xinli, Shen Guosong
Published 2021-06-10
Cite as Chin J Med Genet, 2021, 38(6): 569-572. DOI: 10.3760/cma.j.cn511374-20200713-00509
Abstract
ObjectiveTo assess the value of chromosomal microarray analysis (CMA) to verify a fetus with partial 18p deletion signaled by non-invasive prenatal testing.
MethodsG-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.
ResultsThe 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.
ConclusionNon-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.
Key words:
Non-invasive prenatal testing; Prenatal diagnosis; Chromosomal microarray analysis; Copy number variation; Chromosome 18p microdeletion/duplication
Contributor Information
Li Wenwen
Prenatal Diagnosis Center, Huzhou Women and Children’s Health Care Hospital, Huzhou, Zhejiang 313000, China
Shao Huifen
Prenatal Diagnosis Center, Huzhou Women and Children’s Health Care Hospital, Huzhou, Zhejiang 313000, China
Yao Juan
Prenatal Diagnosis Center, Huzhou Women and Children’s Health Care Hospital, Huzhou, Zhejiang 313000, China
Shi Chunxia
Prenatal Diagnosis Center, Huzhou Women and Children’s Health Care Hospital, Huzhou, Zhejiang 313000, China
Yang Xinmiao
Prenatal Diagnosis Center, Huzhou Women and Children’s Health Care Hospital, Huzhou, Zhejiang 313000, China
Zhang Jinghui
Prenatal Diagnosis Center, Huzhou Women and Children’s Health Care Hospital, Huzhou, Zhejiang 313000, China
Zhang Xinli
Prenatal Diagnosis Center, Huzhou Women and Children’s Health Care Hospital, Huzhou, Zhejiang 313000, China
Shen Guosong
Prenatal Diagnosis Center, Huzhou Women and Children’s Health Care Hospital, Huzhou, Zhejiang 313000, China
