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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 characteristics of ultrasound abnormalities of the anterior fetal brain (HPE) and its relationship with chromosomal abnormalities. Methods Totally 16 fetuses with HPE chromosome karyotype analysis were collected from January 2010 to December 2014, and the abnormalities of fetal HPE were analyzed. The distribution of abnormal chromosomes in HPE was analyzed. Results According to the abnormal features of fetal ultrasound, 16 cases of fetal HPE were divided into three groups (81.25%, 13/16) without HPE and 3 (18.75%, 3/16) with half HPE. No other type of HPE was detected. 16 cases of HPE fetus were accompanied by varying degrees of facial deformity, of which 14 cases (87.50%, 14/16) with other abnormalities, two cases (12.50%, 2/16) did not merge with other abnormalities. Twenty-six cases of HPE fetuses were detected chromosomal abnormalities in 10 cases, the abnormal rate was 62.5% (10/16). Chromosomal abnormalities include the trisomy 13 (7 cases), trisomy 18 (2 cases) and chimera 46, XX, del (7) (q32) [32] / 46, XX, der (7) ?) [7] (1 case). Conclusion Pregnancy fetal HPE mainly rely on prenatal ultrasound diagnosis. HPE high rate of chromosomal abnormalities when fetal ultrasound examination prompted or diagnosed as HPE, chromosome karyotyping should be line to clear the fetus for the presence of chromosomal abnormalities.