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UOG Journal Club: Neurodevelopmental outcome of fetuses with increased nuchal translucency and apparently normal prenatal and/or postnatal assessment: a systematic review
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UOG Journal Club: Neurodevelopmental outcome of fetuses with increased nuchal translucency and apparently normal prenatal and/or postnatal assessment: a systematic review

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This Journal Club presentation provides a summary and discussion of the following free access article published in UOG: …

This Journal Club presentation provides a summary and discussion of the following free access article published in UOG:

Neurodevelopmental outcome of fetuses with increased nuchal translucency and apparently normal prenatal and/or postnatal assessment: a systematic review
A. Sotiriadis, S. Papatheodorou, G. Makrydimas
Volume 39, Issue 1, Date: January 2012, pages 10–19.

This can be accessed here: http://onlinelibrary.wiley.com/doi/10.1002/uog.10143/abstract


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  • 1. UOG Journal Club: January 2012 Neurodevelopmental outcome of fetuses with increased nuchaltranslucency and apparently normal prenatal and/or postnatal assessment: a systematic review A Sotiriadis, S Papatheodorou and G Makrydimas Volume 39, Issue 1, Date: January 2012, pages 10–19 Journal Club slides prepared by Dr Aly Youssef (UOG Editor for Trainees)
  • 2. Background• Increased nuchal translucency (NT) is associated with an increased risk for various adverse pregnancy outcome including: - chromosomal abnormalities - genetic syndromes - structural abnormalities (mainly congenital heart defects) - intrauterine infection and fetal demise• However, little is known about the long-term neurodevelopmental outcome of children with increased NT and normal karyotype that were apparently healthy at birth.
  • 3. Neurodevelopmental outcome of fetuses with increased nuchal translucency and apparently normal prenatal and/or postnatal assessment: a systematic review Sotiriadis et al., UOG 2012 Objective: To systematically review evidence on the neurodevelopmental outcome of fetuses with increased first trimester NT and lack of chromosomal, structural or recognizable genetic syndromes at birth
  • 4. Neurodevelopmental outcome of fetuses with increased nuchal translucency and apparently normal prenatal and/or postnatal assessment: a systematic review Sotiriadis et al., UOG 2012 Methods The literature was systematically reviewed (up to September 2011) for studies with 1st trimester NT measurement and postnatal follow-up Study selection• Cohort or case-control studies• Provision of sufficient details in order to identify only cases with isolated increased NT (i.e. without identifiable chromosomal abnormalities, syndromes or congenital structural defects)• No language restrictions Cases in which increased NT was associated with chromosomal, genetic or structural abnormalities were excluded
  • 5. Neurodevelopmental outcome of fetuses with increased nuchal translucency and apparently normal prenatal and/or postnatal assessment: a systematic review Sotiriadis et al., UOG 2012 Methods The studies were grouped according to the cut-off used for increased NT >99th >95th All centile centile > 3 mm The rates of developmental delay were separately calculated for Children with ↑ NT, normal karyotype, normal Children with ↑ NT, normal karyotype and 2nd trimester anomaly scan and absence of normal 2nd trimester anomaly scan (i.e. structural defects and identifiable before confirmation of normal anatomy at syndromes after birth birth) A secondary analysis was also attempted according to the presence of absence of nuchal edema at the second trimester scan
  • 6. Neurodevelopmental outcome of fetuses with increased nuchal translucency and apparently normal prenatal and/or postnatal assessment: a systematic review Sotiriadis et al., UOG 2012 Results 337 studies included 181 studies: excluded on title and abstract 156 studies 132 studies: excluded for lack of outcome data on postnatal neurodevelopmental delay 7 studies: excluded for specifically assessing fetuses with ↑ NT for a genetic syndrome 17 studies included in the systematic review
  • 7. Neurodevelopmental outcome of fetuses with increased nuchal translucency and apparently normal prenatal and/or postnatal assessment: a systematic review Sotiriadis et al., UOG 2012 Fetuses with ↑ NT and normal at birth NT Number Pooled rate of neurodevelopmental cut-off of studies delay (N, 95% CI) Total 17 1.14% (28/2458, 0.79–1.64) 99th centile 8 0.96% (15/1567, 0.58–1.58) 95th centile 4 1.05% (7/669, 0.51–4.88) 3 mm 5 2.70% (6/222, 1.24–5.77)
  • 8. Neurodevelopmental outcome of fetuses with increased nuchal translucency and apparently normal prenatal and/or postnatal assessment: a systematic review Sotiriadis et al., UOG 2012 Fetuses with ↑ NT and normal 2nd trimester anomaly scan NT Number Pooled rate of neurodevelopmental cut-off of studies delay (N, 95% CI) 99th centile 8 1.08% (15/1666, 95% CI 0.76–1.56) 95th centile 4 1.01% (7/691, 0.49–2.07) 3 mm 5 2.47% (6/243, 1.14–5.28)
  • 9. Neurodevelopmental outcome of fetuses with increased nuchal translucency and apparently normal prenatal and/or postnatal assessment: a systematic review Sotiriadis et al., UOG 2012 Presence of nuchal edema at the second trimester scan (4 studies) NT>99th centile Pooled rate of neurodevelopmental AND delay (N, 95% CI) Normal nuchal fold 0.66% (10/1494, 0.36–1.21) Persistent nuchal 1.06% edema (1/94, 0.19–5.78)
  • 10. Neurodevelopmental outcome of fetuses with increased nuchal translucency and apparently normal prenatal and/or postnatal assessment: a systematic review Sotiriadis et al., UOG 2012 Discussion• Neurodevelopmental delay in fetuses with ↑ NT, normal fetalkaryotype and lack of structural defects or identifiable syndromes isabout 1%• Rates of neurodevelopmental delay reported for the generalpopulation is approximately 3%• The low rate for developmental delay did not differ across thevarious subgroup analyses
  • 11. Neurodevelopmental outcome of fetuses with increased nuchal translucency and apparently normal prenatal and/or postnatal assessment: a systematic review Sotiriadis et al., UOG 2012 Limitations• Absence of firm consensus on the definition of developmental delay• Possible sources of bias: 1. Screening bias: most studies used telephone interviews (parents may under- or over-estimate child’s development) 2. Ascertainment bias: most studies did not offer sufficient information about the steps which followed identification of high-risk infants at screening• Syndromes are not always reliably identified (5/28 cases had an unidentified genetic syndrome)
  • 12. Neurodevelopmental outcome of fetuses with increased nuchal translucency and apparently normal prenatal and/or postnatal assessment: a systematic review Sotiriadis et al., UOG 2012 Conclusion The risk for developmental delay in fetuses with increased first- trimester NT is not increased compared to the general population, after exclusion of chromosomal abnormalities, structural defects and genetic syndromes.
  • 13. Neurodevelopmental outcome of fetuses with increased nuchal translucency and apparently normal prenatal and/or postnatal assessment: a systematic review Sotiriadis et al., UOG 2012 Discussion points• What advice is currently given in your unit to parents when a fetus with nuchal translucency thickness of > 3mm (or > 95th centile) has a normal karyotype and anomaly scan?• What does this systematic review demonstrate about the neurological outcome for such fetuses?• Do we need to wait till after birth to be able to reassure the parents about the outcome of pregnancy?• What conditions need to be met for us to be able to say that there is no increase in postnatal neurological deficit?• What are the study limitations?