染色体微阵列分析用于7q11.23微缺失和微重复综合征的产前诊断

Chromosomal microarray analysis for prenatal diagnosis of 7q11.23 microdeletion and microduplication syndrome

目的研究产前7q11.23微缺失和7q11.23微重复综合征的临床特点,为疾病的产前诊断和遗传咨询提供参考依据。方法回顾性分析染色体微阵列分析技术(CMA)成功检测的47569例产前标本,分析7q11.23微缺失综合征和7q11.23微重复综合征的CMA结果,结合临床资料对这两种综合征的临床特征进行综合分析。结果诊断胎儿7q11.23微缺失综合征12例和7q11.23微重复综合征8例,在介入性产前诊断病例中的检出率分别为0.025%和0.017%,染色体核型G显带分析未见异常。12例7q11.23微缺失综合征中有8例提示超声异常,其中提示宫内生长受限的有4例、心血管系统异常的有4例,消化系统异常的有2例和神经系统异常的有1例,唐氏综合征血清学筛查高风险或临界风险的有3例。8例7q11.23微重复综合征有6例超声提示异常(其中包括2例心血管系统,2例泌尿系统等),唐氏综合征血清学筛查高风险或临界有3例。结论7q11.23微缺失和7q11.23微重复综合征的胎儿临床表型复杂多样,涉及系统较多。心血管系统异常和宫内生长受限是产前7q11.23微缺失综合征最常见的临床表现,主动脉瓣上狭窄可能需要在晚孕期才能发现。泌尿系统和心血管系统异常可能是7q11.23微重复综合征较为常见的临床表型。唐氏血清学筛查高风险对这两种综合可能有一定的提示作用,结合超声判断是否需要产前诊断,如怀疑该疾病,采用CMA技术诊断7q11.23微缺失和微重复综合征是目前一种有效的办法。

Objective To study the clinical characteristics of prenatal 7q11.23 microdeletion and 7q11.23 microduplication syndrome,and to provide a reference basis for prenatal diagnosis of the disease and genetic counseling.Methods Retrospective analysis of 47569 prenatal specimens successfully detected by chromosomal microarray analysis(CMA).To analyze the CMA results of 7q11.23 microdeletion syndrome and 7q11.23 microduplication syndrome,and comprehensively analyze the clinical features of these two syndromes in combination with clinical data.Results Twelve cases of fetal 7q11.23 microdeletion syndrome and 8 cases of 7q11.23 microduplication syndrome were diagnosed,and the detection rates in interventional prenatal diagnosis cases were 0.025%and 0.017%,respectively.G-banding analysis showed no abnormality.Among the 12 cases of 7q11.23 microdeletion syndrome,8 cases showed abnormal ultrasound,including 4 cases of intrauterine growth restriction,4 cases of cardiovascular system abnormalities,2 cases of digestive system abnormalities and 1 case of nervous system abnormalities.There are 3 cases of high risk or critical risk in Down syndrome screening.Among the 8 cases of 7q11.23 microduplication syndrome,6 cases showed abnormality by ultrasound(including 2 cases of cardiovascular system,2 cases of urinary system,etc.),and 3 cases of Down syndrome screening were high risk or critical risk.Conclusion The fetal clinical phenotypes of 7q11.23 microdeletion and 7q11.23 microduplication syndrome are complex and diverse,involving many systems.Cardiovascular system abnormalities and intrauterine growth restriction are the most common clinical manifestations of prenatal 7q11.23 microdeletion syndrome,and supra-aortic stenosis may need to be detected in the third trimester.Urinary system and cardiovascular system abnormalities may be the more common clinical phenotypes of 7q11.23 microduplication syndrome.High risk of Down’s serological screening may have a certain prompting effect on these two syndromes.Combined with ultrasound to determine whether prenatal diagnosis is necessary,if the disease is suspected,using CMA technology to diagnose 7q11.23 microdeletion and microduplication syndrome is an effective method at present.