Guyot A, Soupre V, Vazquez M-P, Picard A, Rosenblatt J, Garel C, Gonzales M, Marlin S, Benifla J-L, Jouannic J-M
Service de gynécologie-obstétrique, centre pluridisciplinaire de diagnostic prénatal de l'Est Parisien, hôpital Armand-Trousseau, AP-HP, Paris-6, 26, avenue Arnold-Netter, 75012 Paris, France.
J Gynecol Obstet Biol Reprod (Paris). 2013 Apr;42(2):151-8. doi: 10.1016/j.jgyn.2012.08.002. Epub 2012 Sep 25.
To evaluate the management of prenatally diagnosed cleft lip with or without cleft palate and the immediate postnatal outcome.
Retrospective study of all cases of cleft lip with or without cleft palate referred to our fetal medicine unit, between January 2005 and January 2011. The anatomical type of cleft, associated malformations, and the postnatal outcome were reviewed.
Forty-three cases of fetal cleft lip with or without cleft palate were reviewed. The mean gestational age at diagnosis was 24 weeks ± 4. The postnatal distribution of clefts was: 30 cleft lip and palate (70%) and 13 cleft lip (30%). The prenatal diagnosis of the cleft type was exact in 27 cases (62.8%). Nine cases had associated anomalies (21%), detected prenatally in three cases (37.5%). There was no karyotypical abnormality. Six pregnancies were terminated (14%). The immediate postnatal outcome was comparable with unselected newborns.
The prenatal diagnosis of cleft lip with or without cleft palate is correct, with two thirds of exact diagnoses. Large clefts palate are the best detected. Associated malformations cannot always be diagnosed by prenatal ultrasound, but have to be searched for because they modify the fetal outcome.
评估产前诊断的唇裂伴或不伴腭裂的处理情况及出生后即刻结局。
对2005年1月至2011年1月间转诊至我院胎儿医学科的所有唇裂伴或不伴腭裂病例进行回顾性研究。对腭裂的解剖类型、相关畸形及出生后结局进行了评估。
共回顾了43例胎儿唇裂伴或不伴腭裂病例。诊断时的平均孕周为24周±4周。出生后腭裂的分布情况为：30例唇腭裂（70%）和13例唇裂（30%）。27例（62.8%）腭裂类型的产前诊断准确。9例（21%）有相关畸形，其中3例（37.5%）在产前被检测到。无染色体异常。6例妊娠终止（14%）。出生后即刻结局与未筛选的新生儿相当。
产前诊断唇裂伴或不伴腭裂是正确的，三分之二的诊断准确。大的腭裂最易被检测到。相关畸形并非总能通过产前超声诊断，但必须进行排查，因为它们会改变胎儿结局。
