Objective To examine the prevalence of all chromosomal defects amongst fetuses with increased nuchal translucency thickness (NT). Methods This is a retrospective study amongst pregnant women indicated for amniocentesis by nuchal translucency above 3.0 mm and consent to the study. A total of 2,720 cases were recruited during the six-year period from 2015 to 2020. All singleton pregnancies were offered fetal karyotype when the fetal nuchal translucency was ≥2.5 mm. The prevalence of chromosomal defects was divided into five NT categories: 2.5-3.4 mm, 3.5-4.4 mm, 4.5-5.4 mm, 5.5-6.4 mm, ≥6.5 mm. Results The study identified 2,720 amniocentesis for increased NT. The mean maternal age was 29.19 (range 17-46) years, and the mean fetal crown-rump length was 66.9 (range 45-84) mm. The fetal karyotype was abnormal in 560 (20.6%) participants. The most frequent chromosomal disorders were trisomy 21 (55%), trisomy 18 (11.2%), trisomy 13 (3.9%), 45,XO (2.7%). The prevalence of chromosomal aberrations was ranged from 17.9% (NT between 2.5-3.4 mm) to 29.7% (NT≥6.5 mm). A majority of fetuses with trisomy 13, 18, or 21 has NT measurement lower than 5.5 mm. In those with Turner syndrome, there was no difference between the group with NT <5.5 mm and the group with NT ≥5.5 mm. Increased maternal age is a risk factor for chromosomal aberrations with the rate increased from 17.6% at the youngest maternal age of 30-34 to 34% at maternal age of 35-39 and to 50% at maternal age of ≥40. Conclusion In fetuses with increased NT, more than a half of the chromosomal abnormalities were affected by defects other than trisomy 21. The distribution of NT was different between Turner syndrome and trisomy 13, 18, 21 syndromes. Women aged 35 years or older had a higher risk of chromosomal aberrations.
Keywords: amniocentesis; amniotic fluid; chromosome aberrations; karyotype analysis; vietnam.
Copyright © 2021, Hai Long et al.