Perrotin F, de Poncheville L M, Marret H, Paillet C, Lansac J, Body G
Department of Obstetrics and Gynecology, Fetal Medicine and Human Reproduction, Bretonneau University Hospital, F-37044 Tours Cedex, France.
Eur J Obstet Gynecol Reprod Biol. 2001 Nov;99(1):19-24. doi: 10.1016/s0301-2115(01)00347-5.
To describe the incidence, associated features including chromosomal defects in fetuses, with cleft lip and/or palate and assess the need for karyotyping.
Retrospective study of 62 cases of prenatally diagnosed facial cleft lip and/or palate in a tertiary fetal medicine unit between January 1991 and December 1999. Chromosome analysis was performed in all fetuses with associated ultrasound findings and in 14 (39%) fetuses with isolated facial clefts.
Associated abnormalities were detected in 26 (42%) of the 62 fetuses of which 22 (35%) fetuses had multiple other abnormalities. Central nervous system abnormalities and limb malformations were the most common. Three fetuses had genetic syndromes confirmed after birth. All fetuses with isolated clefts were chromosomally normal, whereas 15 of the 26 with additional abnormalities (58 or 24% of the total group) had chromosomal defects (eight cases of trisomy 13, five of trisomy 18, one unbalanced translocation between chromosomes 7 and 8, and one deletion 4p-). All 22 women who chose not to undergo fetal karyotype analysis delivered phenotypically normal infants. There were five midline clefts; each of them was associated with additional sonographic findings and four were associated with holoprosencephaly.
Isolated facial clefting is not associated with an increased risk for chromosomal defect. Amniocentesis is recommended when facial cleft is found in association with additional ultrasonographic abnormalities as it is unnecessary for isolated clefts.
描述唇裂和/或腭裂胎儿的发病率、相关特征（包括染色体缺陷），并评估进行核型分析的必要性。
对1991年1月至1999年12月在一家三级胎儿医学单位产前诊断为面部唇裂和/或腭裂的62例病例进行回顾性研究。对所有伴有超声异常发现的胎儿以及14例（39%）孤立性面部腭裂胎儿进行了染色体分析。
62例胎儿中有26例（42%）检测到相关异常，其中22例（35%）胎儿还有多种其他异常。中枢神经系统异常和肢体畸形最为常见。3例胎儿出生后确诊患有遗传综合征。所有孤立性腭裂胎儿染色体均正常，而26例伴有其他异常的胎儿中有15例（占总数的58%或24%）存在染色体缺陷（8例13三体、5例18三体、1例7号和8号染色体间不平衡易位、1例4p-缺失）。所有22名选择不进行胎儿核型分析的孕妇均分娩出表型正常的婴儿。有5例中线腭裂；每例均伴有其他超声检查发现，4例与前脑无裂畸形相关。
孤立性面部裂并不增加染色体缺陷的风险。当发现面部裂合并其他超声异常时建议进行羊膜腔穿刺术，因为对于孤立性腭裂则无此必要。
