胎儿前脑无裂畸形的超声异常特点及其与染色体异常的关系

Sonographic features of fetal holoprosencephaly and the relationship with chromosomal abnormalities

目的分析胎儿前脑无裂畸形(Holoprosencephaly,HPE)的超声异常特点及其与染色体异常的关系。方法收集2010年1月-2014年12月产前超声检出HPE并行染色体核型分析的16例胎儿,总结胎儿HPE的超声异常特点,并分析HPE的染色体异常分布情况。结果根据胎儿超声的异常特点,16例胎儿HPE分为无叶HPE 13例(81.25%,13/16)和半叶HPE 3例(18.75%,3/16),未检出其他类型HPE。16例HPE胎儿均伴有不同程度的颜面畸形,其中14例(87.50%,14/16)合并其他异常,2例(12.50%,2/16)未合并其他异常。16例HPE胎儿共检出染色体异常10例,异常率为62.5%(10/16)。染色体异常类型包括:13三体(7例)、18三体(2例)和嵌合体46,XX,del(7)(q32)[32]/46,XX,der(7)(q32::?)[7](1例)。结论妊娠期胎儿HPE主要依靠产前超声诊断。HPE的染色体异常率较高,当胎儿超声检查提示或诊断为HPE时,应行染色体核型分析,以明确胎儿是否存在染色体异常。

Objective To analyze the sonographic features of fetal holoprosencephaly（ HPE） and the relationship with chromosomal abnormalities. Methods Sixteen fetuses with HPE detected by prenatal ultrasound examination and receiving fetal chromosome karyotyping from January 2010 to December 2014 were collected,the sonographic features of fetal HPE were summarized,the distribution of chromosomal abnormalities was analyzed. Results According to sonographic features,16 fetuses with HPE were classified into alobar HPE type（ 81. 25%,13/16） and semilobar HPE type（ 18. 75%,3/16）,no other types of HPE was found. All the 16 fetuses were complicated with different degrees of craniofacial anomalies,14 fetuses（ 87. 50%,14 / 16） were complicated with other abnormal sonographic findings,2 fetuses（ 12. 50%,2 / 16） were not complicated with other abnormal sonographic findings. Ten fetuses were found with chromosomal abnormalities,the rate was 62. 5%（ 10 / 16）. The types of chromosomal abnormalities included trisomy 13（ 7 fetuses）,trisomy 18（ 2 fetuses）,and mosaicism 46,XX,del（ 7）（ q32） [32] / 46,XX,der（ 7）（ q32： ： ？）（ 1 fetus）. Conclusion Diagnosis of HPE mainly depends on fetal ultrasound examination during pregnancy. Chromosomal abnormalities are common in HPE cases. When fetal ultrasonography indicates HPE,fetal chromosomal karyotyping is necessary to confirm the existing of fetal chromosomal abnormalities or not.