Prevalence of Common Aneuploidies and Sex Chromosome Abnormalities in Second Trimester Amniocentesis
Keywords:
Fetal chromosome aberrations, Maternal age, Prenatal diagnosis, Trisomy 21Abstract
Aneuploidy represents the predominant chromosomal abnormalities observed at the Human Genetic Laboratory, Faculty of Medicine Ramathibodi Hospital. This study aimed to evaluate the prevalence of common aneuploidies, including trisomies 13, 18, 21 and sex chromosome abnormalities amongst two maternal age groups: ≥ 35 years and < 35 years old. We analyzed 6,804 prenatal amniotic fluid specimens, collected from Ramathibodi Hospital during January 2012 and December 2021, for aneuploidies of chromosomes 13, 18, 21, X, and Y by using the GTG banding technique. Our results identified 280 cases (4.12%) with common aneuploidies and sex chromosome abnormalities. Among the numeric chromosomal abnormalities cases (2.96%), trisomy 21 was the most prevalent, reportedly found in 92 patients (1.35%). The proportion of other abnormalities were listed as: trisomy 18 (50 cases, 0.73%), trisomy 13 (16 cases, 0.24%), Turner syndrome (13 cases, 0.19%), Klinefelter syndrome (18 cases, 0.26%), XYY syndrome (4 cases, 0.06%), and triple X syndrome (8 cases, 0.12%). We also identified structural chromosomal abnormalities in 79 cases (1.16%). In conclusion, women with age ranges between 35-39 years possessed the highest incidence of chromosomal abnormalities. These findings indicated a significant surge in the risk of chromosomal anomalies within the maternal age between 35-39 years. Trisomy 21 and structural chromosome abnormalities were predominant in the advanced maternal age group (≥ 35 years old).
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