探讨胎儿NT增厚与染色体异常的关系

Relationship Exploration between Fetal NT Thickening and Chromosomal Abnormalities

目的研究胎儿NT增厚与染色体异常的关系。方法选择2015年6月至2017年6月医院收治的确诊为胎儿NTD增厚的患者84例,在中孕期行羊水穿刺取样,细胞培养常规制片,G限贷染色体核型分析。结果所选84例患者中,羊水穿刺培养和染色体核型分析成功率100.00%。84例胎儿NT增厚患者中,染色体核型异常16例(19.05%)。16例染色体异常核型中,有21-三体6例(7.14%),20-三体1例(1.19%),18-三体3例(3.57%),47XXY3例(3.57%),45XO3例(3.57%)。3-4 mm NT42例中异常核型4例(9.52%),4-5mm NT21例中异常核型3例(14.29%),5-6 mm NT14例中异常核型4例(28.57%),6-7 mm NT7例中异常核型5例(71.43%)。结论胎儿NT增厚,与染色体异常之间具有明显的关系,染色体异常会造成NT增加。对于妊娠期超声检查发现胎儿NT超过3 mm的患者,应及时进行染色体核型分析,尽早诊断和处理。

Objective to study relationship between fetal NT thickness and chromosomal abnormalities. Methods choose 84 cases fetal NT thickness from June 2015 to June 2017 in the hospital, carry on amniocentesis, routine cell culture and G chromosome karyotype analysis during second trimester. Results among 84 cases, success rate of amniocentesis culture and chromosome karyotype analysis was 100.00%. Among 84 cases fetal NT thickening, 16 cases had abnormal chromosome karyotypes（19.05%）, including 6 cases of 21-trisomy（7.14%）, 1 case of 20-trisomy（1.19%）, 3 cases of 18-trisomy（3.57%）, 3 cases of 47 XXY（3.57%）, and 3 cases of 45 XO（3.57%）. Among 42 cases of 3-4 mm NT, 4 cases had abnormal karyotype（9.52%）, among 21 cases of 4-5 mm NT, 3 cases（14.29%） had abnormal karyotype, among 14 cases of 5-6 mm NT, 4 cases had abnormal karyotype（28.57%）, among 7 cases of 6-7 mm NT, 5 cases had abnormal karyotype（71.43%）. Conclusion fetal NT thickness had clear relationship with chromosomal abnormalities, which may NT increase. Patients with fetal NT larger than 3 mm by pregnancy ultrasound examination should be treated with chromosomal karyotype analysis in time and early diagnosis and treatment.