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Updated: Mar 25, 2026
Assessment and Evaluation of the High Risk Neonate: The NICU Network Neurobehavioral Scale
Published on: August 25, 2014
Long-term outcome in apparently healthy children with increased nuchal translucency in the first trimester screening
Outi Äyräs1, Marianne Eronen2, Minna Tikkanen1
1Department of Obstetrics and Gynecology, Helsinki University Hospital and University of Helsinki Finland, Helsinki, Finland.
Insights
Even with normal second trimester scans, 7% of euploid children with increased first trimester nuchal translucency develop major health issues, including structural defects and genetic disorders.
Area of Science:
- Prenatal diagnostics
- Pediatric outcomes
- Genetics
Background:
- Increased nuchal translucency (NT) is linked to chromosomal abnormalities and genetic syndromes.
- Long-term outcomes for euploid (normal chromosomes) infants with increased NT are not well-established.
- This study focuses on euploid infants with increased NT and normal second-trimester scans.
Purpose of the Study:
- To assess late-diagnosed structural defects in euploid children with increased NT.
- To evaluate the long-term health outcomes for these children.
- To determine the overall incidence of major health problems in this cohort.
Main Methods:
- Retrospective analysis of singleton euploid pregnancies (2002-2007) with increased NT and normal second-trimester scans.
- Inclusion of children discharged as healthy.
- Data collection on structural defects and genetic disorders until 2012 from hospital and national registers, including previously published data.
Main Results:
- The study included 733 children.
- During a mean 6.5-year follow-up, 1.4% had major structural defects, 0.3% had genetic disorders, and 3.1% had minor defects.
- Combined with prior data, 7% of euploid children with increased NT and normal second-trimester scans experienced major health problems.
Conclusions:
- Few additional major structural defects are diagnosed post-discharge after increased NT.
- However, 7% of euploid fetuses with increased NT and normal mid-trimester scans ultimately present with major health impairments.
- This highlights the need for continued vigilance in monitoring these children.
Introduction:
Increased nuchal translucency is known to be associated with chromosomal and structural defects and genetic syndromes. Little is known about the overall long-term outcome of euploid children after increased nuchal translucency. The aims of this study were to assess the additional structural defects diagnosed after discharge from the delivery hospital and the long-term overall outcome of euploid children after increased nuchal translucency and normal second trimester anomaly scan.
Material And Methods:
All children from singleton euploid pregnancies during 2002-2007 with increased nuchal translucency in the first trimester screening, normal second trimester anomaly scan, and discharged as apparently healthy were included. Data on the structural defects and genetic disorders diagnosed until 2012 were retrieved from hospital databases and national registers. Previously published data of structural defects diagnosed after birth but before discharge and of severe neurodevelopmental impairment and genetic syndromes was added.
Results:
The cohort included 733 children. During the follow-up time (mean 6.5 years), major structural defects were observed in 10 (1.4%), genetic disorders in two (0.3%), and minor defects in 23 (3.1%) children. In addition, there were 42 previously published major structural defects and major neurodevelopmental impairment or genetic disorders. Adding these results together, major health problems were detected in 54 (7%) euploid children with increased fetal nuchal translucency and normal findings in second trimester anomaly scan.
Conclusion:
Although only few additional major structural defects are diagnosed during the follow-up after increased fetal nuchal translucency, 7% of fetuses assumed to be healthy after second trimester anomaly scan have a major health impairment.
