多参数联合筛查在胎儿唇腭裂畸形产前诊断中的应用

Clinical value of joint multi-parameter screening in diagnosing cleft lip and palate malformation in fetuses

目的探讨多参数联合检查在孕中晚期诊断胎儿唇腭裂畸形的价值。方法采用多参数联合筛查,对64 340例孕15周以上妇女进行检查,同时通过原位培养法检测染色体异常。结果25岁以下(低年龄)和36岁以上(高年龄)孕妇胎儿唇腭裂发生率较高。唇裂者多合并其他畸形和染色体异常。多参数联合筛查唇裂的阳性预测值达100%。结论胎儿上唇回声连续中断是胎儿唇裂的主要征象,上唇结节回声消失、鼻小柱向健侧移位和患侧鼻翼内陷是唇腭裂的常见声像图表现。及早发现胎儿唇裂,为诊断先天性畸形或发现一些隐性畸形提供信息,有助于产科处理和追踪观察。

Objective To evaluate the clinical value of joint multi-parameter screening in diagnosing cleft lip and cleft palate in intermediate/later period of pregnancy. Methods 64 340 pregnant women with gestation age of over 15 weeks were examined by joint multi-parameter screening. Culture in situ was employed to detect chromosomal abnormalities. Results Pregnant women younger than 25 years or older than 36 years had a higher incidence of fetal cleft lip and palate. A considerable number of cleft lip cases combined with other deformities and chromosomal abnormalities. The positive predictive value of multi-parameter united ultrasound imaging reached 100%. Conclusion The interruption of fetus pupper lip is the main symbol of fetal cleft lip. The disappearance of upper lip node, nasoseptal displacement and eollapse of no sewing are the common displays of cleft lip and cleft palate. The earlier finding of cleft lip gives some useful information for the diagnosis, treatment and follow-up of congenital malformation and the detection of reeessive malformation.