染色体微阵列分析对于胎儿十二指肠梗阻的检测价值

目的探讨染色体微阵列分析(chromosome microarray analysis,CMA)对于胎儿十二指肠梗阻(duodenal obstruction,DO)的检测价值。方法选取51例超声提示存在DO的胎儿,将其分为单纯组和合并其他异常组。对其进行CMA检测,并随访所有病例的妊娠结局。结果在51例胎儿中共发现8例异常,检出率为15.7%,包括3例染色体数目异常,5例致病性拷贝数变异(copy number variations,CNVs),分别为17q12微重复综合征、13q21.33q31.1微缺失、13q21.32q22.3缺失、13q21.2q31.1缺失和1q43q44重复。13q的EDNRB及17q12的HNF1B为胎儿DO的候选基因。单纯DO组于合并其他结构异常组致病性CNVs的检出率差异无统计学意义(9.5%vs.11.1%,P>0.05)。39例活产,1例死胎,引产的11例中包括8例CMA结果异常者。结论DO与基因组拷贝数异常存在一定的相关性,须进行产前诊断。CMA不仅可以检测微缺失/微重复变异,同时具有发现可疑致病基因的能力,可为DO胎儿的产前诊断、咨询以及预后评估提供依据。

Value of chromosomal microarray analysis for fetuses with duodenal obstruction

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 out 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 born,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.