Long-term follow-up of children with prenatally found increased nuchal translucency and normal karyotype

Abstract

Objective: The aim of the study was a long-term follow-up of children with prenatally found increased nuchal translucency (NT) and normal karyotype. Material and methods: The study was conducted among 147 pregnant women who underwent amniocentesis due to increased fetal NT with or without other structural anomalies in the fetus. The final analysis concerned children with prenatally found increased NT and normal karyotype who were at least 2 years of age. A questionnaire was sent to all patients who underwent amniocentesis in order to assess the development of the children. Results: Normal karyotype was found in 101 (68.7%) fetuses with increased NT. Complete information on the outcome of pregnancy and further development of the children was submitted by 70 patients (69.3%). An abnormal outcome of pregnancy, congenital structural anomalies and abnormal development was found finally in 17.1% of the children. In case of normal result of the second-trimester fetal ultrasound scan, normal further development was found in 93% of the children. Conclusions: 1. Further development of the children with prenatally found increased NT and normal karyotype is usually normal. 2. The degree of NT increase and the result of the second-trimester fetal anatomy scan seem to play the key role in the prognosis of further, postnatal outcome of the fetuses with increased NT. 3. Normal karyotype in fetuses with increased NT does not exclude the possibility of an existing genetic syndrome