胎儿小指中节骨缺失产前超声表现及结局

目的 观察小指中节骨缺失胎儿产前超声表现及其转归。方法 回顾性分析36胎孕16~33周经产前超声首次疑诊小指中节骨缺失胎儿,记录其产前超声表现、有无合并其他异常、染色体检查结果及临床转归。结果 21胎产前超声显示双侧小指中节骨缺失且合并其他系统结构畸形,包括16胎伴心脏畸形、8胎伴中枢神经系统畸形、5胎伴颜面畸形、3胎伴腹部异常及伴其他6种异常(各1胎),其中4胎接受染色体检查,2胎染色体数目异常(1胎21-三体综合征,1胎18-三体综合征),2胎染色体检查未见异常;之后19胎引产,2胎出生后3个月手部DR示双侧小指中节骨存在骨化中心。另外15胎中,产前超声显示2胎单侧、13胎双侧小指中节骨缺失但未见合并其他异常;此15胎均接受染色体检查,其中3胎21-三体综合征接受引产,12胎未见明确染色体数目异常且出生后均未见小指屈曲,生后3个月手部DR均见小指中节骨存在骨化中心。结论 产前超声显示胎儿小指中节骨受多因素影响,且可能存在骨化延迟现象、合并其他系统异常及染色体数目异常等,需通过动态观察并结合临床进行综合评估。

Ultrasonic manifestations and outcome of fetuses with absent middle phalanx of the little finger

Objective To observe the ultrasonic manifestations and outcome of fetuses with absent middle phalanx of the little finger. Methods Data of 36 fetuses with absence of middle segment of the little finger displayed by the first prenatal ultrasound at 16-33 weeks of gestation were retrospectively analyzed. The prenatal ultrasonic manifestations, complicated abnormalities, the chromosomal karyotype results and the outcome of fetuses were recorded. Results Prenatal ultrasound showed 21 fetuses with bilateral absences of middle segment of the little fingers simultaneously with one or more other abnormalities, including 16 fetuses with cardiac malformations, 8 with central nervous system malformations, 5 with facial malformations, 3 with abdominal anomalies and 6 fetuses each complicated with 1 other abnormality. Four of these 21 fetuses received chromosomal karyotype examination, including 2 were found with abnormal chromosomal number (1 of 21-trisomy syndrome and 1 of 18-trisomy syndrome) while the other 2 without chromosomal abnormality. Thereafter, induced labor was performed in 19 cases, while hands DR 3 months after birth displayed ossification centers of middle segment of bilateral little fingers in the rest 2 cases. Among other 15 fetuses prenatal ultrasound showed unilateral (n=2) or bilateral (n=13) absence of middle segment of the little fingers but without other abnormality and underwent chromosomal examination, induced labor was performed in 3 cases with fetal 21-trisomy syndrome, while the other 12 fetuses without abnormal findings were born with no flexion of the little fingers on physical examination, and hands DR 3 months after birth displayed ossification centers of middle segment of bilateral little fingers. Conclusion Displaying of fetal middle segment of the little fingers on prenatal ultrasound was affected by multiple factors, in addition, the ossification might be delayed, and might complicated with other systemic and chromosome abnormalities. Dynamically follow-up with prenatal ultrasound and comprehensively evaluation combined with clinical data was necessary for diagnosing fetal absent middle phalanx of the little finger.