宁夏地区2032例不同产前诊断指征孕妇羊水染色体核型分析

Analysis of amniotic fluid chromosome karyotype in 2032 pregnant women with different prenatal diagnostic indications in Ningxia area

目的分析宁夏地区不同产前诊断指征的孕妇羊水染色体核型结果,探讨不同产前诊断指征在检测羊水染色体异常中的价值。方法选取2019年1月至2021年12月就诊于银川市妇幼保健院产前诊断中心的2032例孕妇作为研究对象,所有研究对象在超声引导下行羊膜腔穿刺术,取材后进行羊水细胞培养及染色体核型分析。结果羊水标本检出羊水染色体异常核型153例,检出率为7.53%,其中数目异常占67.32%(103/153),结构异常占18.30%(28/153),嵌合体占14.38%(22/153)。不同的产前诊断指征孕妇染色体异常核型检出率不同,其中无创产前检测的高风险指征者检出率为46.49%,具有唐氏筛查高风险指征者检出率为2.86%,具有高龄指征者检出率为6.93%,具有超声检查异常指征者检出率为4.69%,具有夫妇染色体异常指征者检出率为30.30%,具有不良孕产史指征者检出率为3.10%。结论不同产前诊断指征对于羊水细胞染色体核型异常的检出均有意义,建议结合临床选用合适的检测手段,对提高我国出生人口质量具有重大意义。

Objective To analyze the results of amniotic fluid chromosome karyotype of the pregnant women with different prenatal diagnostic indications in Ningxia area,and to explore the value of different prenatal diagnostic indications in detecting chromosomal abnormalities of amniotic fluid.Methods A total of 2032 pregnant women admitted in Yinchuan Municipal Maternal and Child Health Care Hospital from January 2019 to December 2021 were selected as the study subjects.All subjects conducted the amniocentesis under the ultrasound guidance.After taking the materials,the amniotic fluid cells culture and chromosome karyotype analysis were performed.Results A total of 153 cases of amniotic fluid chromosome abnormal karyotype were detected out with the detection rate of 7.53%,in which the number abnormalities accounted for 67.32%(103/153),the structure abnormality accounted for 18.30%(28/153)and the chimeras accounted for 14.38%(22/153).The pregnant women with different prenatal diagnosis indications had different detection rate of chromosome karyotype abnormality,the detection rate of abnormal karyotype in those with high risk in noninvasive prenatal detection was 46.49%,which in those with Down′s screening high-risk was 2.86%,which in those with the advanced age indicator was 6.93%,which in those with ultrasound abnormal indications was 4.69%,which in those with couples abnormal chromosome was 30.30%and which in those with adverse pregnancy history was 3.10%.Conclusion Different prenatal diagnosis indicators are of great significance to the detection of chromosome karyotype abnormalities in amniotic fluid cells.It is suggested to select suitable detection by combining with clinic,which has a great significance to improve the quality of birth population in our country.