超声筛查与绒毛染色体检查对早期胎儿异常诊断价值

VALUE OF ULTRASOUND SCREENING AND VILLI CHROMOSOME DETECTION IN THE DIAGNOSIS OF EARLY FETAL ABNORMALITIES

目的探讨超声筛查与绒毛染色体检查诊断11～13＋6周胎儿异常的价值。方法应用标准化超声切面对495例11～13＋6周的胎儿进行筛查,发现严重结构畸形后引产;发现颈项透明层（NT）增厚胎儿行早期绒毛染色体检查,染色体若有异常进行引产,若染色体无异常于22～26周行胎儿系统超声筛查,进一步排除胎儿结构异常,并随访其妊娠结局。结果孕早期495例胎儿中发现异常胎儿8例（1.62%）,漏诊1例。8例异常胎儿包括1例联体双胎,2例颈部水囊瘤合并严重全身水肿,1例试管婴儿双胎之一为露脑畸形,NT增厚4例。NT增厚胎儿有3例行染色体检测,结果显示1例为21-三体综合征,2例未见异常;1例未做染色体检测胎儿于孕16周时胎死宫内。8例异常胎儿中4例引产,1例行减胎术,大体标本所见与产前超声诊断相符合。1例漏诊病例于孕22～26周系统超声筛查发现左肾缺如,出生后经超声证实。孕早、中期产前超声共检出9例异常胎儿,其中孕早期检出6例异常胎儿得到证实。孕早期超声筛查诊断胎儿异常的灵敏度为66.7%（6/9）,特异度为99.4%（486/489）,符合率99.4%（492/495）。孕早期胎儿异常的漏诊率11.1%（1/9）。其余胎儿妊娠结局良好。结论胎儿超声筛查与绒毛染色体检查联合应用对早期发现胎儿异常有重要的临床意义。

Objective To assess the value of ultrasound screening and villi chromosome detection in diagnosing fetal abnormalities at 11-13 weeks of gestation. Methods Employing standardized sonography,495 fetuses of 11-13-week gestation were screened,odinopoeia was performed if there was a severe structural abnormalities;if there was nuchal translucency（NT）thickness,chorionic villi chromosome examination to be done,if the chromosome was abnormal,an odinopoeia was performed;if no abnormalities of the chromosome were detected,fetal anatomy ultrasonography be done at 22-26 weeks to further exclude fetal structural abnormalities and the pregnancy outcome was followed up. Results Of 495 fetuses at 11-13 weeks of pregnancy,eight were found abnormal（8/495,1.62%）,and one missed diagnosis.Abnormalities in the eight cases included one of conjoined twins,two of cystic hydroma with serious anasarca,one of exencephaly in one of test-tube twin,and four of thickened NT.Four cases of thicken NT,chromosome detection was done in three,trisomy 21 was noted in one,and no abnormalities found in two.One case that did not receive chromosome detection was found dead fetus in uterus at 16-week gestation.Of the eight abnormal fetuses,four received odinopoeia,and one fetal reduction,findings of the gross specimen were consistent with prenatal ultrasound diagnosis.Of one case with missed diagnosis,fetal anatomy ultrasonography done at 22-26 weeks of pregnancy showed absence of the left kidney,which was confirmed by postnatal ultrasound.A total of nine abnormal fetuses were found by prenatal ultrasonography done at early and middle pregnancy,of which,six abnormal fetuses were detected at early gestation.The sensitivity of early pregnancy ultrasonography for abnormal fetus was 66.7%（6/9）,specificity was 99.4%（486/489）,and coincidence rate was99.4%（492/495）,and the omission rate was 11.1%（1/9）.The outcomes of other fetuses were fine. Conclusion Standard ultrasound screening combined with chorionic villi chromosome examination is of important clinical significance in early discovery of fetal disorders.