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Abnormal nuchal translucency does not = abnormal child

General

Clinical Question:
Does abnormal nuchal translucency always indicate an abnormal child?

Bottom Line:
In cases of abnormal first trimester nuchal translucency with normal karyotype and normal second trimester ultrasound, the risks of adverse neonatal outcome and developmental delay in childhood are not increased. Parents can be reassured in this situation. (LOE = 2c)

Reference:
Senat MV, Bussieres L, Couderc S, et al. Long-term outcome of children born after a first-trimester measurement of nuchal tanslucency at the 99th percentil or greater with normal karyotype: A prospective study. Am J Obstet Gynecol 2007;196:53e1-53e6.  [PMID:17240232]

Study Design:
Case-control

Setting:
Outpatient (any)

Synopsis:
Increased nuchal translucency thickness in the first trimester has been associated with aneuploidy, and measurements above the 95th percentile has been associated with other congenital defects, principally cardiac defects. This French study included 162 cases of children with history of nuchal translucency above the 99th percentile, normal karyotype, and normal anatomy by ultrasound at 22 to 24 weeks' gestation. Children were examined within 2 days after birth, at 1,4, and 9 months, and at 2 years of age. The parents also completed the Ages and Stages Questionnaire at every examination starting with the 4-month visit to detect early signs of developmental delay. Cases were compared with a control group of 370 term French children from a population-based cohort study. There were no differences between groups for congenital defects or developmental delay.

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Citation

Slawson, David C., et al., editors. "Abnormal Nuchal Translucency Does Not = Abnormal Child." EE+ POEM Archive, John Wiley & Sons, 2019. Evidence Central, evidence.unboundmedicine.com/evidence/view/infoPOEMs/426178/all/Abnormal_nuchal_translucency_does_not_=_abnormal_child.
Abnormal nuchal translucency does not = abnormal child. In: Slawson DC, Shaughnessy AF, Ebell MH, et al, eds. EE+ POEM Archive. John Wiley & Sons; 2019. https://evidence.unboundmedicine.com/evidence/view/infoPOEMs/426178/all/Abnormal_nuchal_translucency_does_not_=_abnormal_child. Accessed March 25, 2019.
Abnormal nuchal translucency does not = abnormal child. (2019). In Slawson, D. C., Shaughnessy, A. F., Ebell, M. H., & Barry, H. (Eds.), EE+ POEM Archive. Available from https://evidence.unboundmedicine.com/evidence/view/infoPOEMs/426178/all/Abnormal_nuchal_translucency_does_not_=_abnormal_child
Abnormal Nuchal Translucency Does Not = Abnormal Child [Internet]. In: Slawson DC, Shaughnessy AF, Ebell MH, Barry H, editors. EE+ POEM Archive. John Wiley & Sons; 2019. [cited 2019 March 25]. Available from: https://evidence.unboundmedicine.com/evidence/view/infoPOEMs/426178/all/Abnormal_nuchal_translucency_does_not_=_abnormal_child.
* Article titles in AMA citation format should be in sentence-case
TY - ELEC T1 - Abnormal nuchal translucency does not = abnormal child ID - 426178 ED - Slawson,David C, ED - Shaughnessy,Allen F, ED - Ebell,Mark H, ED - Barry,Henry, BT - EE+ POEM Archive UR - https://evidence.unboundmedicine.com/evidence/view/infoPOEMs/426178/all/Abnormal_nuchal_translucency_does_not_=_abnormal_child PB - John Wiley & Sons DB - Evidence Central DP - Unbound Medicine ER -