探讨对胎龄为16~18周胎儿进行超声筛查诊断先天性唇腭裂的临床价值。

选取2019年1月1日至2020年6月30日，于广州市妇女儿童医疗中心定期进行产前检查的1 134例单胎妊娠孕妇的胎儿为研究对象。胎龄为11~13^＋6周时，采用胎儿颈项透明层(NT)联合胎儿颜面部正中矢状切面及鼻后三角切面检查，筛查先天性唇腭裂，于胎龄为16~18和20~24周时，采用鼻唇冠状切面和颌部轴切面，辅助诊断先天性唇腭裂。随访1 134例纳入本研究胎儿的妊娠结局，比较不同胎龄胎儿超声筛查先天性唇腭裂的检出率。另选取2020年7月至12月在本院进行定期产前检查的200例单胎妊娠孕妇的健康胎儿，分别于胎龄为11~13^＋6、16~18和20~24周时，采取胎儿超声检查胎儿唇腭裂畸形，记录并比较对不同胎龄采取胎儿超声筛查，对胎儿先天性唇腭裂的检查时间及完成率。采用同类相关系数(ICC)评价2位超声科医师诊断胎儿先天性唇腭裂结果的一致性。本研究遵循的程序符合2013年新修订的《世界医学协会赫尔辛基宣言》要求，并与所有胎儿孕母签署临床研究知情同意书。

①1 134例胎儿中，30例(2.6%)生后或引产后证实为先天性唇腭裂。其中产前胎儿超声筛查确诊为29例，产后确诊为1例(孤立性腭裂)。产前确诊的29例先天性唇腭裂胎儿中，活产为15例，引产为14例。②胎龄为11~13^＋6、16~18和20~24周胎儿超声筛查，对先天性唇腭裂的检出率分别为73.3%(22/30)、93.3%(28/30)和93.8%(15/16)。③2位超声科医师胎儿超声筛查200例胎儿鼻唇冠状切面和颌部轴切面结果进行评价的ICC为0.85(95%CI：0.80~0.91)。④16~18、20~24周时，这200例胎儿中，先天性唇腭裂胎儿超声筛查完成率分别为74.0%(148/200)、90.0%(180/200)，明显高于11~13^＋6周的74.0%(148/200)，并且差异均有统计学意义(χ²＝17.344、P<0.001，χ²＝37.961、P<0.001)。对16~18、20~24周胎儿进行胎儿超声进行先天性唇腭裂筛查的时间分别为(3.7±1.6) min和(2.9±1.4) min，明显短于11~13^＋6周的(13.1±3.6) min，并且差异亦有统计学意义(t＝27.598、P<0.001，t＝30.513，P<0.001)。

对胎龄为16~18周胎儿的先天性唇腭裂畸形胎儿超声筛查耗时短、检出率高。

To investigate the clinical value of prenatal ultrasonography for the diagnosis of fetal congenital cleft lip and palate during 16-18 gestational weeks.

A total of 1 134 fetuses who underwent regular prenatal examination in Guangzhou Women and Children Medical Center from January 1, 2019 to June 30, 2020 were selected into this study. Nuchal translucency (NT) screening combined with median sagittal section of fetal face and posterior nasal triangle section were used in first trimester (11-13^{+ 6} gestational weeks). Congenital cleft lip and palate were scanned by coronal section of nasal lip and palatal axis section at 16-18 gestational weeks and 20-24 gestational weeks. The pregnancy outcomes of all patients were followed up and the detection rate of fetal cleft lip and palate by prenatal ultrasonography at different pregnancy trimesters were compared. Furthermore, 200 healthy fetuses who underwent regular prenatal examination at same hospital from July to December 2020 were selected to be screened for fetal congenital cleft lip and palate during 11-13^{+ 6}, 16-18, and 20-24 gestational weeks, respectively, and the success rate and examination time were recorded and compared. Intraclass correlation coefficient (ICC) was used to evaluate the consistency of the results between two operators. The procedure followed in this study was in line with the requirements of the Helsinki Declaration of the World Medical Association revised in 2013. Informed consent for clinical research was obtain from pregnant mothers of each fetus.

① A total of 30 fetuses (2.6%, 30/1 134) were confirmed with congenital cleft lip and palate after birth or induced labor. Of these, 29 cases were confirmed by prenatal examination and 1 case was confirmed postnatally (isolated cleft palate). Among the 29 fetuses with congenital cleft lip and palate diagnosed by prenatal examination, 15 were live births and 14 were induced labor. ②The detection rates of congenital cleft lip and palate at 11-13^{+ 6}, 16-18, and 20-24 gestation weeks were 73.3% (22/30), 93.3% (28/30) and 93.8% (15/16), respectively. ③The ICC of the 200 pregnant women examined by two operators for congenital cleft lip and palate was 0.85 (95%CI: 0.80-0.91). ④ The completion rates of screening for congenital cleft lip and palate at 16-18 and 20-24 gestational weeks were 74.0% (148/200) and 90.0% (180/200), respectively, which were significantly higher than that at 11-13^{+ 6} gestational weeks (74.0%, 148/200), and all differences were statistically significant (χ²=17.344, P<0.001; χ²=37.961, P<0.001). The screening time for fetal congenital cleft lip and palate at 16-18 and 20-24 gestational weeks were (3.7±1.6) min and (2.9±1.4) min, respectively, which were significantly shorter than that at 11-13^{+ 6} gestational weeks [(13.1±3.6) min], and the difference was also statistically significant (t=27.598, P<0.001; t=30.513, P<0.001).

The detection of fetal congenital cleft lip and palate by prenatal ultrasound at 16-18 gestational weeks has the advantages of short time-consuming and high diagnostic rate.