Prenatal ultrasound screening for fetal cleft lip and palate and related abnormalities / 中华围产医学杂志

ABSTRACT

Objective To evaluate the sensitivity and specificity of prenatal ultrasound for detecting fetal cleft lip and palate,and the diagnosis rate of associated congenital structural and chromosomal abnormalities.Methods Thirty one thousand two hundred and forty five singleton pregnant women accepted prenatal examination and delivered in Guangzhou Women & Children' s Medical Center from Jan.2006 to Dec.2010 were recruited in this study.All pregnant women underwent prenatal ultrasound screening during second trimester,and whose fetuses were suspected to be cleft lip and palate were suggested to accept karyotype analysis.All babies delivered received oral examination to diagnose cleft lip and palate.Results Cleft lip and palate was diagnosed in 48 cases (1.5‰,48/31 245).Among which,there were 16 cases (33.3％,16/48) of cleft lip,21 cases (43.8％,21/48) of cleft lip with cleft palate and 11 cases (22.9％,11/48) of cleft palate.Prenatal ultrasound screening suggested 18 cases of cleft lip and 14 cases were comfirmed after birth with the accuracy rate of 77.8％,3 cases were diagnosed to be cleft lip with cleft palate and one cases was misdiagnosed.Prenatal ultrasound screening suggested 18 cases of cleft lip with cleft palate in accordance with the diagnosis after birth.Thirteen cases were normal in prenatal ultrasound screening,but two were diagnosed as cleft lip and 11 were diagnosed as cleft palate after birth.The sensitivity of prenatal ultrasound screening for cleft lip and cleft lip with cleft palate was 86.5％(32/37),and the sensitivity for cleft lip and palate was 66.7％ (32/48),the false positive rate was 2.1％ (1/48).Ten cases (27.8％,10/36) of cleft lip with cleft palate were found to be complicated with other abnormalities.Nine of the 18 cases prenatally diagnosed cleft lip with cleft palate accepted karyotype analysis and 7 were abnormal.Twenty-three of 36 cases with fetal cleft lip and palate in prenatal ultrasound screening were induced.Conclusions Ultrasound screening has a high sensitivity for detection of cleft lip with or without cleft palate,but difficult to detect cleft palate.The risk of combining with chromosomal defects in cleft lip fetus is very low,but might increase once associated with cleft palate.