Value of chromosomal microarray analysis for fetuses with duodenal obstruction.
10.3760/cma.j.cn511374-20200114-00027
- 白话标题:染色体微阵列分析对于胎儿十二指肠梗阻的检测价值
- 作者:
Wenwen ZHANG
1
,
2
;
Kun DU
;
Fang FU
;
Ru LI
;
Yongling ZHANG
;
Xiangyi JING
;
Xin YANG
;
Min PAN
;
Li ZHEN
;
Jin HAN
;
Can LIAO
作者信息
1. Center of Prenatal Diagnosis, Guangzhou Women and Children's Medical Center Affiliated to Guangzhou Medical University, Guangzhou, Guangdong 510623, China. canliao6008@
2. com.
- 出版类型:Journal Article
- 医学主题词:
Chromosome Aberrations;
DNA Copy Number Variations;
Duodenal Obstruction/genetics*;
Female;
Fetus;
Humans;
Microarray Analysis;
Pregnancy;
Prenatal Diagnosis
- 来源:
Chinese Journal of Medical Genetics
2021;38(3):210-213
- 国家China
- 语言:Chinese
-
摘要:
OBJECTIVE:To assess the value of chromosomal microarray analysis (CMA) for fetal duodenal obstruction (DO).
METHODS:Fifty-one fetuses with DO identified by prenatal ultrasound were divided into DO only group and DO with other anomaly group. CMA was carried out on amniotic fluid or umbilical blood samples, and the outcome of pregnancy of all cases were followed up.
RESULTS:Eight fetuses (15.7%) were found with genomic abnormalities, which included 3 chromosomal aneuploidies and 5 copy number variations (CNVs), including one 17q12 microduplication syndrome, one 13q21.33q31.1 microdeletion, one 13q21.32q22.3 deletion, one 13q21.2q31.1 deletion and one 1q43q44 duplication. EDNRB from 13q and HNF1B from 17q12 are candidate genes for fetal DO. No significant difference was found in the detection rate of pathogenic CNVs between the DO only and DO with other anomaly groups (9.5% vs.11.1%, P> 0.05). There were 39 live borns, 1 stillbirth, and 11 artificial abortions (8 with abnormal CMA results).
CONCLUSION:There is a correlation between fetal DO and abnormal copy number of the genome, for which prenatal diagnosis is necessary. CMA not only can detect microdeletions/microduplications, but also identify pathogenic genes, which can facilitate prenatal diagnosis, genetic counseling and prognosis for the fetus.
