产前诊断胎儿1p32p31微缺失综合征一例

Prenatal diagnosis of fetal 1p32p31 microdeletion syndrome:a case report

本文报告了1例孕妇,孕22周和25周超声检查发现胎儿头形异常、室间隔缺损、胆囊偏大、耳位低和局部脐带胶质水肿.取羊水细胞行染色体微阵列分析,结果提示为arr[GRCh37] 1p32.1p31.1(61,279,239-76,597,189)×1,即1p32.1p31.1区域杂合缺失15.318 Mb;胎儿染色体核型为46,XY,del(1)(p32.1p31.1).缺失片段位于1p32p31微缺失综合征区域,诊断为1p32p31微缺失综合征.父母核型及染色体微阵列分析结果均正常,确认该缺失为新发变异.该综合征可能会有头型、肾脏、膀胱及中枢神经系统发育异常,经遗传咨询后,孕妇及家属选择终止妊娠.

We hereby reported a fetus with abnormal head shape,ventricular septal defect,gallbladder enlargement,low-set ears and local umbilical cord glial edema at 22 and 25 weeks of gestation ultrasound scan.A 15.318 Mb heterozygous microdeletion on chromosome 1p32.1p31.1,arr[GRCh37]1p32.1p31.1(61,279,239-76,597,189)×1,was indentified by chromosomal microarray analysis.The chromosome karyotype of the fetus was 46,XY,del(1)(p32.1p31.1).Therefore,this case was diagnosed as 1p32p31 microdeletion syndrome and proved to be a de novo variation based on routine G-banding analysis and chromosomal microarray analysis of the normal parents.This syndrome might present with abnormalities in the head shape,kidney,bladder and central nervous system.The couple decided to terminate the pregnancy after genetic counseling concerning the possible poor outcomes of the fetus.