Witters I, Legius E, Moerman P, Deprest J, Van Schoubroeck D, Timmerman D, Van Assche F A, Fryns J P
Department of Obstetrics and Gynecology, University of Leuven, B-3000 Leuven, Belgium.
Am J Med Genet. 2001 Nov 1;103(4):278-82.
We present a retrospective study of the frequency and type of associated malformations and chromosomal anomalies in 42 consecutive cases of congenital diaphragmatic hernia (CDH) diagnosed in utero during the period from 1985 to 1999. In 26% (11/42) of the cases, associated malformations were detected. Chromosomal anomalies were present in 9.5% (4/42). In this group of 15 cases (15/42 = 36%) with associated malformations or chromosomal anomalies, all cases, except one, had prenatal sonographic evidence of additional problems. The survival rate of fetuses with CDH and associated malformations or chromosomal anomalies was poor (1/15). Therefore, the overall survival rate of in utero-diagnosed CDH was only 31% (13/42), while isolated left CDH had a survival rate of 52% (12/23). The in utero diagnosis of CDH implies a detailed echographic examination to exclude additional anomalies. The risk for a syndromal or chromosomal malformation becomes small when no additional anomalies are seen on ultrasound.
我们对1985年至1999年期间连续诊断出的42例先天性膈疝（CDH）胎儿的相关畸形和染色体异常的频率及类型进行了一项回顾性研究。在26%（11/42）的病例中检测到相关畸形。染色体异常的发生率为9.5%（4/42）。在这15例（15/42 = 36%）有相关畸形或染色体异常的病例中，除1例之外，所有病例在产前超声检查中均有其他问题的证据。患有CDH且伴有相关畸形或染色体异常的胎儿存活率很低（1/15）。因此，产前诊断的CDH总体存活率仅为31%（13/42），而孤立性左侧CDH的存活率为52%（12/23）。CDH的产前诊断意味着要进行详细的超声检查以排除其他异常。当超声检查未发现其他异常时，发生综合征性或染色体畸形的风险就很小。
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