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目的探讨胎儿颈项透明层厚度与染色体异常在产前诊断中的关系。方法对2011年2月至2017年4月,在我院经腹超声检查胎儿NT增厚而行孕早期绒毛或孕中期羊水染色体分析的146例孕妇进行回顾分析。结果 146例NT值增厚标本中,染色体核型异常32例,异常检出率为21.92%(32/146)。异常核型中21三体17例,18三体4例,13三体3例,Turner综合征(45,X)3例,47,XX,+mar 1例,其他4例。结论胎儿颈项透明层增厚对染色体异常早期筛查具有重要意义,是孕早中期筛查胎儿染色体异常的敏感而有效的超声指标。
Objective To investigate the relationship between the thickness of fetal transparent neck and chromosomal abnormalities in prenatal diagnosis. Methods From February 2011 to April 2017, 146 pregnant women who underwent transabdominal ultrasonography to investigate the fetal NT thickening, and the first trimester chorionic villi or second trimester amniotic fluid chromosome analysis were retrospectively analyzed. Results In 146 cases of NT thickening specimens, 32 cases were abnormal in karyotype, the rate of abnormality was 21.92% (32/146). There were 17 cases of trisomy 21, 4 cases of trisomy 18, 3 cases of trisomy 13, 3 cases of Turner syndrome (45, X), 1 case of 47, XX, + mar and 4 cases of abnormal karyotype. Conclusion The thickening of the transparent layer of fetal neck is of great significance for the early screening of chromosomal abnormalities. It is a sensitive and effective ultrasound index for screening fetal chromosomal abnormalities in early pregnancy and early pregnancy.