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Long-term outcome of children born after a first-trimester measurement of nuchal translucency at the 99th percentile or greater with normal karyotype: A prospective study

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Objective

This study was undertaken to assess the long-term outcome of children born after a first-trimester measurement of nuchal translucency (NT) at the 99th percentile or greater during routine first-trimester screening in an unselected population.

Study design

One hundred sixty-two infants were born alive. Clinical examination as well as a questionnaire to the parents (Ages and Stages Questionnaires [ASQ]) at the age of 2 years were obtained in 160 children. Our study population was compared with an external control group made of the 370 term control children.

Results

The prevalence of abnormal clinical pediatric examination and ASQ results at 2 years were not associated with NT thickness. Comparison with an external control group did not demonstrate an increased incidence of developmental delay.

Conclusion

Parents should be informed that when the fetus is shown to be normal by ultrasound at 22-24 weeks of gestation the risk of adverse neonatal outcome or developmental delay in early childhood is not increased.

Section snippets

Population and Methods

We conducted a cohort study in a large unselected pregnant population undergoing first-trimester ultrasound screening for fetal aneuploidy in a single health authority. All patients gave oral consent to undergo follow-up and the study was approved by the local ethics committee. Results on the performance of combined first-trimester screening by using maternal age, NT thickness, and maternal serum markers over 2 years in the first 14,934 cases have been reported elsewhere.15 NT was measured when

Results

Routine first-trimester ultrasound screening was performed in 21,149 unselected pregnant women between Jan. 1, 2001, and Dec. 31, 2003, including NT measurement at 11-14 weeks’ gestation. Two hundred forty-eight fetuses (1.2%) had NT at the 99th percentile or greater for CRL. The Figure shows the course and outcome of the 248 fetuses in relation with NT. A normal karyotype was found in 179 of 248 (72.2%) fetuses. Median (25th-75th percentile) maternal age in the overall and in the study

Comment

In children born after a prenatal diagnosis of an apparently isolated increased NT with normal karyotype, there was a wide spectrum of abnormalities diagnosed postnatally in 11.1% (18/162) of the cases. Cardiac malformations accounted for about half of all these abnormalities in our population as reported in the literature.6 Our study confirms that fetuses with NT thickness above the 99th percentile and normal karyotype have a high risk of adverse perinatal outcome. However, among children born

Acknowledgment

We acknowledge Beatrice Larroque and Monique Kaminski (INSERM U149 Research Unit on Perinatal Health and Women’s Health, Villejuif, France) for having provided us with the control population of the Epipage study.

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    Cite this article as: Senat M-V, Bussières L, Couderc S, et al. Long-term outcome of children born after a first-trimester measurement of nuchal translucency at the 99th percentile or greater with normal karyotype: A prospective study. Am J Obstet Gynecol 2007;196:53.e1-53.e6.

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