Analysis of increased nuchal translucency: Chorionic villi sampling and second-trimester level II sonography

Abstract

Purpose: To assess the outcomes of increased fetal nuchal translucency (NT), to aid in prenatal counseling and managementin our practice. Materials and Methods: We retrospectively reviewed the medical records of patients who underwent first trimester fetalkaryotyping using chorionic villi sampling (CVS) and second trimester level II sonography for a fetal NT thickness ≥3.0 mmbetween 11 weeks and 13 weeks 6 days’ gestation, at Gyeongsang National University Hospital. Pediatric medical recordsand a telephone interview were used to follow-up live-born children. Exclusion criteria included incomplete data and CVS forother indications. Results: Seventy cases met the inclusion criteria (median NT thickness, 4.7 mm; range, 3.0-16.1 mm). Twenty-nine cases(41.4%) were aneuploid. The prevalence of chromosomal defects increased with NT thickness: NT 3.0-3.4 mm, 16.7%; NT3.5-4.4 mm, 27.3%; NT 4.5-5.4 mm, 66.7%; NT 5.5-6.4 mm, 37.5%; NT ≥6.5 mm, 62.5%. The most common karyotypeabnormality was trisomy 18 (n=12), followed by trisomy 21 (n=9). In chromosomally normal fetuses (n=41), fetal deathoccurred in 2 cases (4.9%), and structural malformations were found in 11 cases (26.8%). In chromosomally and anatomicallynormal fetuses (n=28), one child had neurodevelopmental delay (3.6%). Twenty-eight infants who had a prenatal increasedNT were alive and well at follow-up (40%). Conclusion: Outcomes of increased fetal NT might help inform prenatal counseling and management. The high prevalenceof chromosomal defects associated with increased fetal NT implies that CVS should be performed in the first trimester,particularly considering the stress associated with an uncertain diagnosis.