Prenatal diagnosis strategies and pregnancy outcomes in the Luohe region of China in the context of increasing maternal age

This article aims to explore prenatal diagnostic strategies in the context of increasing maternal age. We calculated the proportion of advanced maternal age (AMA) pregnancies in the Luohe region from 2019 to 2023 and evaluated the indications, abnormal fetal karyotypes, and pregnancy outcomes among 3,681 pregnant women (3700 samples) who underwent amniocentesis. The prenatal diagnostic indications, abnormal fetal karyotypes, and pregnancy outcomes of 3681 pregnant women (3700 samples) were determined. The rates of abnormal amniotic fluid karyotypes for different indications and termination of pregnancy (TOP) rates with different types of abnormalities were compared. From 2019 to 2023, the proportion of AMA pregnancies in Luohe region increased from 11.30% to 16.03%. The most common prenatal diagnosis was AMA (54.50%), followed by abnormal maternal serum screening (35.83%). Among the 3700 samples, 97 exhibited numerical abnormalities, 32 structural abnormalities, and 2 had both numerical and structural abnormalities. The highest TOP rates were observed for combined numerical and structural abnormalities, followed by isolated numerical abnormalities and isolated structural abnormalities. Among numerical abnormalities, sex chromosome aneuploidies had a lower TOP rate than common trisomies and rare autosomal aneuploidies. AMA have become the primary prenatal diagnostic indication. In addition to noninvasive prenatal testing (NIPT), fetal karyotyping can also detect mosaicism, structural abnormalities, and triploidy. The combination of karyotyping and molecular detection has increased the detection rate of chromosomal abnormalities. However, NIPT cannot replace amniocentesis.