Chromosome microarray analysis of four fetuses with abnormal karyotypes.

Author: Ruifang ZHU ¹ ; Xiangyu ZHU ; Ying YANG ; Xing WU ; Ying ZHANG ; Yiyan SHI ; Linlin HE ; Jie LI
Author Information

1. Prenatal Diagnosis Center of Jiangsu Province, Drum Tower Hospital Affiliated to Nanjing University Medical School, Nanjing, Jiangsu 210008, China. Email: jie1967@126.com.
Publication Type:Journal Article
MeSH: Abnormal Karyotype; Adult; Chromosome Banding; Female; Humans; Karyotyping; Microarray Analysis; methods; Pregnancy; Prenatal Diagnosis
From: Chinese Journal of Medical Genetics 2017;34(6):812-815
CountryChina
Language:Chinese
Abstract:
OBJECTIVETo carry out chromosomal microarray analysis (CMA) on four fetuses with abnormal karyotypes.
METHODSAmniotic fluid samples were obtained and subjected to routine G-banded karyotyping analysis. CMA was applied for cultured amniocytes to determine alterations of gene dosage and chromosomal breakpoints.
RESULTSAbnormal karyotypes were found in the parents of 3 fetuses. Parental karyotypes of the remaining fetus were normal. Imbalance chromosome rearrangements were revealed by CMA in all 4 cases.
CONCLUSIONCMA is an effective tool for the evaluation of clinical significance and delineation of the breakpoints involved in complex chromosomal rearrangements.