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目的探讨产前超声检查异常对行侵入性产前诊断的价值。方法 2010年1月—2011年12月广州市出生缺陷重点病种干预项目共纳入27 660例孕妇行孕中期产前超声筛查,其中157例产前超声筛查提示胎儿异常者行侵入性产前诊断,总结其超声征象,分析侵入性产前诊断结果。结果超声筛查胎儿多发畸形或胎儿畸形伴羊水量异常40例,侵入性产前诊断显示胎儿染色体异常核型8例;超声筛查胎儿有水肿表现10例,侵入性产前诊断明确α型地中海贫血-1的纯合子7例、45XO 2例、Y染色体多态性1例;超声筛查单一结构异常或羊水量异常107例,侵入性产前诊断显示胎儿染色体核型异常4例,其余103例胎儿染色体核型未见异常者中,4例唐氏综合征血清学筛查为高风险或临界风险;1例早孕期胎儿颈项透明层2.7mm。结论超声筛查提示多发畸形或胎儿畸形伴羊水量异常者应行侵入性产前诊断,而单一结构异常或羊水量异常者应慎行;胎儿水肿征有助于诊断胎儿α型地中海贫血或血红蛋白H病。
Objective To investigate the value of abnormality of prenatal ultrasound in diagnosis of invasive prenatal diagnosis. Methods From January 2010 to December 2011, a total of 27 660 pregnant women were enrolled in the prenatal ultrasound screening in Guangzhou during the second trimester of pregnancy. Among them, 157 prenatal ultrasound screening showed that the fetus was abnormal and invasive Pre-diagnosis, summarize the ultrasound signs, analysis of invasive prenatal diagnosis. Results Ultrasound screening of fetal multiple malformations or fetal malformations with amniotic fluid abnormalities in 40 cases, invasive prenatal diagnosis of fetal chromosomal abnormalities karyotype in 8 cases; ultrasound screening fetal edema in 10 cases, invasive prenatal diagnosis clear α-mediterranean Anemia -1 homozygous in 7 cases, 45XO 2 cases, Y chromosome polymorphism in 1 case; ultrasound screening of single structural abnormalities or amniotic fluid volume in 107 cases, invasive prenatal diagnosis showed fetal chromosome karyotype abnormalities in 4 cases, the remaining 103 Cases of fetal chromosome karyotype no abnormalities, 4 cases of Down’s syndrome serological screening for high risk or critical risk; 1 case of early pregnancy fetal neck transparent layer 2.7mm. Conclusion Ultrasound screening prompts multiple anomalies or fetal abnormalities with amniotic fluid abnormalities should be performed invasive prenatal diagnosis, and a single structural abnormalities or abnormal amniotic fluid should be cautious; fetal edema can help diagnose fetal α-thalassemia or hemoglobin H disease.