Diagnostic Accuracy and Chromosomal Microarray and Karyotype Analysis with Different Clinical Biomarkers for Prenatal Diagnosis of Fetal Genetic Diseases

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.