11例胎儿22q11微缺失综合征的产前诊断

Prenatal Diagnosis of 22q11 Microdeletion Syndrome in 11 Fetuses

目的:提高对胎儿22q11微缺失综合征(22q11 microdeletion syndrome,22q11DS)产前诊断的认识。方法:回顾性分析2017年1月—2021年7月在泉州市妇幼保健院·儿童医院产前诊断中心行羊水/脐血染色体核型及单核苷酸多态性微阵列(single nucleotide polymorphism array,SNP-array)检测的病例。分析产前诊断确诊为22q11DS胎儿的超声临床特征、遗传学病因及随访结果。结果:SNP-array共检出11例22q11DS,检出率为0.37%(11/2958)。5例行父母验证,其中1例遗传自表型正常的父亲,4例为新发突变。9例产前超声提示不同程度的超声异常,包括4例心血管系统异常,3例胎儿颈后透明层厚度增厚,1例双足内翻,1例十二指肠闭锁。另外2例产前超声未提示明显异常。确诊后6例引产,1例失访,4例选择继续妊娠,其中2例出生后随访未见明显异常,2例出生后失访。结论:22q11DS胎儿产前主要表现为超声结构异常,对于超声异常胎儿进一步行SNP-array检测可提高染色体微缺失的检出率。

Objective:To improve the understanding of prenatal diagnosis of fetuses with 22q11 microdeletion syndrome(22q11DS).Methods:A retrospective analysis was conducted on the cases of amniotic fluid/umbilical cord blood chromosome karyotype and SNP-array detection in the Prenatal Diagnosis Center of Quanzhou Women′s and Children′s Hospital from January 2017 to July,2021.The ultrasonic clinical features,genetic etiology and follow-up results of fetuses with 22q11DS were analyzed.Results:A total of 11 cases of 22q11DS were detected by SNP-array analysis,with a detection rate being 0.37%(11/2958).Five cases performed the parental SNP-array verification,among them,1 case inherited from the normal father and the other 4 cases were de novo.There were 9 cases with different ultrasound abnormalities including 4 cases of abnormal cardiovascular system,3 cases of NT thickening,1 case of bipedal varus and 1 case of duodenal atresia.The other 2 cases showed no obvious abnormality on prenatal ultrasound.Six cases were induced labor;1 case was lost to follow-up.Four cases chose to continue pregnancy,of which 2 cases were followed up without obvious abnormality,and 2 cases were missed.Conclusions:Fetal with 22q11DS mainly manifest ultrasound structural abnormalities.Further SNP array detection of ultrasound abnormal fetus can improve the detection rate of chromosome microdeletion.