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

• Published in: Journal of genetic medicine Vol. 11; no. 2; pp. 56 - 62
• Main Authors: Park, Ji Eun, Park, Ji Kwon, Cho, In Ae, Baek, Jong Chul, Kang, Min Young, Lee, Jae Ik, Shin, Jeong Kyu, Choi, Won Jun, Lee, Soon Ae, Lee, Jong Hak, Paik, Won Young
• Format: Journal Article
• Language: Korean
• Published: The Korean Society of Medical Genetics 30.12.2014; 대한의학유전학회
• Subjects: Increased fetal nuchal translucency; Chorionic villi sampling; Structural malformations; Chromosomal defects
• ISSN: 1226-1769; 2233-9108

Purpose: To assess the outcomes of increased fetal nuchal translucency (NT), to aid in prenatal counseling and management in our practice. Materials and Methods: We retrospectively reviewed the medical records of patients who underwent first trimester fetal karyotyping using chorionic villi sampling (CVS) and second trimester level II sonography for a fetal NT thickness ${\geq}3.0mm$ between 11 weeks and 13 weeks 6 days' gestation, at Gyeongsang National University Hospital. Pediatric medical records and a telephone interview were used to follow-up live-born children. Exclusion criteria included incomplete data and CVS for other 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%; NT 3.5-4.4 mm, 27.3%; NT 4.5-5.4 mm, 66.7%; NT 5.5-6.4 mm, 37.5%; NT ${\geq}6.5mm$, 62.5%. The most common karyotype abnormality was trisomy 18 (n=12), followed by trisomy 21 (n=9). In chromosomally normal fetuses (n=41), fetal death occurred in 2 cases (4.9%), and structural malformations were found in 11 cases (26.8%). In chromosomally and anatomically normal fetuses (n=28), one child had neurodevelopmental delay (3.6%). Twenty-eight infants who had a prenatal increased NT were alive and well at follow-up (40%). Conclusion: Outcomes of increased fetal NT might help inform prenatal counseling and management. The high prevalence of 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.