J Genet Med.  2014 Dec;11(2):56-62. 10.5734/JGM.2014.11.2.56.

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

• Park JE
• Park JK
• Cho IA
• Baek JC
• Kang MY
• Lee JI
• Shin JK
• Choi WJ
• Lee SA
• Lee JH
• Paik WY

• KMID: 2184494
• DOI: http://doi.org/10.5734/JGM.2014.11.2.56

Abstract

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 > or =3.0 mm 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 > or =6.5 mm, 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.

Keyword

Increased fetal nuchal translucency; Chorionic villi sampling; Chromosomal defects; Structural malformations

MeSH Terms

Aneuploidy
Child
Chorionic Villi Sampling*
Counseling
Diagnosis
Down Syndrome
Female
Fetal Death
Fetus
Follow-Up Studies
Humans
Infant
Interviews as Topic
Karyotype
Karyotyping
Medical Records
Nuchal Translucency Measurement*
Pregnancy
Pregnancy Trimester, First
Pregnancy Trimester, Second
Prevalence
Retrospective Studies
Trisomy