Long Term Follow-up of Children with Increased Nuchal Translucency and Normal Karyotype on First Trimester Sonography

Background: A prospective study to evaluate long-term pregnancy outcome and childhood development of chromosomally normal foetuses with increased nuchal translucency thickness (NT) at 10-14 weeks of gestation. Methods: Between Jan 1, 1997 and Dec 31, 2001 78 foetuses with increased NT but normal karyotype were identified from the database of the Department of Obstetrics and Gynaecology at Innsbruck Medical University. To evaluate long term cognitive abilities and social skills standardized questionnaires ("Elternfragebogen zur erganzenden Entwicklungsbeurteilung bei den kinderarztlichen Vorsorgeuntersuchungen U6 bis U9 "EEE U6-U9 [7]; "Kognitive Probleme bei Kindern und Jugendlichen - Vorstellung eines Fragebogens "KOPKIJ [4]) were used. 41 children with increased nuchal translucency were compared with 41 control children matched for date of birth, gestational and maternal age. Results: Follow-up data could be collected in 44 cases. 2 out of 78 foetuses died intrauterine, one infant died after birth. Two out of the 41 surviving infants showed genetic disorders. There was no significant difference in cognitive delay between children with increased NT and controls (9.8% vs. 2.4%, p = 0.361). Conclusion: Our findings suggest that chromosomally normal foetuses with increased nuchal translucency in the first-trimester scan do not have an increased risk for a significant cognitive developmental delay in an observation period of up to six years.