Cai Feifei, Shen Ru, Wang Haiou, Zheng Yun, Zhang Weihang, Jin Lixu
Department of Obstetrics, The First Affiliated Hospital of Wenzhou Medical University, Shangcai Village, Nanbaixiang Town, Ouhai District, Wenzhou, Zhejiang, 325000, China.
First Clinical Medical College, Wenzhou Medical University, Higher-Education Zone, Chashan Town, Ouhai District, Wenzhou, Zhejiang, 325000, China.
Iran J Public Health. 2025 May;54(5):992-1002. doi: 10.18502/ijph.v54i5.18634.
We compared the diagnostic accuracy and application value of chromosome microarray (CMA) technique and karyotype analysis for prenatal diagnosis of fetal genetic diseases using different clinical markers.
This is a prospective clinical study involving 1587 pregnant women who underwent amniocentesis for prenatal diagnosis due to various abnormal clinical indications in China between May 2018 and Nov 2021. Both chromosome microarray and karyotype analysis were applied. Participants were categorized into six groups based on different indications for prenatal diagnosis. The detection rates of chromosome microarray and karyotype analysis were compared. The study utilized SPSS version 20 for data analysis, employing descriptive statistics for count data results and chi-square statistics for statistical associations between outcomes and predictors.
Chromosome microarray and karyotype analysis detected more abnormal chromosomes in the group with abnormal NIPT, with positive detection rates of 59.68% and the group in other situation with positive detection rates of 39.22%. Overall, 343 chromosome abnormalities were detected among participants. Overall, 101 cases chose induced labor, 240 cases gave birth, 1 newborn died after delivery, 1 case of twin chose selective reduction, another fetus gave birth, and 1 case lost to follow-up. The detection rate of chromosome abnormality in high-risk population was more than 1/5, highlighting the importance of reducing the incidence of birth defects through interventional prenatal diagnosis.
Clinically, Down's screening, NIPT and prenatal ultrasound screening can be conducted initially, followed by karyotype analysis and CMA detection for those with abnormal findings.
我们比较了染色体微阵列（CMA）技术和核型分析在使用不同临床标志物进行胎儿遗传病产前诊断中的诊断准确性和应用价值。
这是一项前瞻性临床研究，纳入了2018年5月至2021年11月期间在中国因各种异常临床指征接受羊膜腔穿刺术进行产前诊断的1587名孕妇。同时应用了染色体微阵列和核型分析。根据产前诊断的不同指征，将参与者分为六组。比较染色体微阵列和核型分析的检出率。本研究使用SPSS 20版进行数据分析，对计数数据结果采用描述性统计，对结果与预测因素之间的统计关联采用卡方统计。
染色体微阵列和核型分析在无创产前检测（NIPT）异常组中检测到更多异常染色体，阳性检出率为59.68%，在其他情况组中阳性检出率为39.22%。总体而言，参与者中检测到343例染色体异常。总体而言，101例选择引产，240例分娩，1例新生儿出生后死亡，1例双胞胎选择减胎，另一胎儿分娩，1例失访。高危人群中染色体异常的检出率超过1/5，凸显了通过介入性产前诊断降低出生缺陷发生率的重要性。
临床上，可先进行唐氏筛查、NIPT和产前超声筛查，对于检查结果异常者再进行核型分析和CMA检测。
