ResearchObstetricsLong-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
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.
References (27)
- et al.
Increased nuchal translucency with normal karyotype
Am J Obstet Gynecol
(2005) - et al.
Pregnancy outcomes with increased nuchal translucency after routine Down syndrome screening
Int J Gynaecol Obstet
(2004) - et al.
Are maternal hypertension and small-for-gestational age risk factors for severe intraventricular hemorrhage and cystic periventricular leukomalacia?Results of the EPIPAGE cohort study
Am J Obstet Gynecol
(2005) - et al.
UK multicentre project on assessment of risk of trisomy 21 by maternal age and fetal nuchal translucency thickness at 10-14 weeks of gestation
Lancet
(1998) - et al.
Using fetal nuchal translucency to screen for major congenital cardiac defects at 10-14 weeks of gestation: Population based cohort study
BMJ
(1999) - et al.
Defects and syndromes in chromosomally normal fetuses with increased nuchal translucency thickness at 10-14 weeks of gestation
Ultrasound Obstet Gynecol
(1998) - et al.
Nuchal translucency measurement and pregnancy outcome in karyotypically normal fetuses
Ultrasound Obstet Gynecol
(2001) - et al.
Limitations of using first trimester nuchal translucency measurement in routine screening for major congenital heart defects
Ultrasound Obstet Gynecol
(2001) - et al.
Outcome and early childhood follow-up of chromosomally normal fetuses with increased nuchal translucency at 10-14 week’s gestation
Ultrasound Obstet Gynecol
(1998) - et al.
Increased first trimester nuchal translucency: Pregnancy and infant outcomes after routine screening for Down’s syndrome in an unselected antenatal population
Br J Radiol
(1999)
Pregnancy outcome and infant follow-up of fetuses with abnormally increased first trimester nuchal translucency
Hum Reprod
Outcome of chromosomally normal livebirths with increased fetal nuchal translucency at 10-11 week’s gestation
J Med Genet
Fetal nuchal translucency and normal chromosomes: a long term follow-up study
Ultrasound Obstet Gynecol
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Management of isolated increased nuchal translucency: survey among the Pluridisciplinary Centers for Prenatal Diagnosis
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2022, Journal of Gynecology Obstetrics and Human ReproductionCitation Excerpt :Increased NT can reveal chromosomal and morphological abnormalities. In the general population, increased NT (> 3mm) affects between 0.5% and 1.75% of embryos [10,11]. Three percent of the patients in our hospital were affected of such abnormalities between 2009 and 2018.
Contribution of array CGH in the management of fetal nuchal translucency
2020, Gynecologie Obstetrique Fertilite et SenologieWhat you need to know about maternal-fetal medicine
2019, Seminars in Pediatric SurgeryCitation Excerpt :A decreased PAPP-A and hCG suggests trisomy 13 or 18.3,4 A nuchal translucency greater than 3.0 mm or above the 99th percentile for crown-rump length is associated with congenital heart defects, abdominal wall defects, diaphragmatic hernias and skeletal dysplasias.1,5,6 Additionally, the risk of an adverse pregnancy outcome is proportional to the degree of nuchal translucency enlargement.1
Microarrays in prenatal diagnosis
2017, Best Practice and Research: Clinical Obstetrics and GynaecologyCitation Excerpt :Performing CMA rather than karyotyping could hence lead to a decrease in undiagnosed genetic disorders in fetuses with an increased NT. In a publication by Senat et al., in which a cohort of 162 fetuses with an apparently isolated increased NT at 11–14 weeks of gestation and normal karyotype were followed up until 2 years of age, an 11.1% rate of abnormalities at birth or postnatally (18/162) was observed [88]. Moreover, in case of persistent unexplained NT at 20 weeks of gestation, the risk for adverse outcome was reported to be as high as 18% [89].
Does the presence of extended jugular lymphatic sacs add more risk to nuchal thickness for genetic and structural abnormality?
2023, Journal of Medical Ultrasound
Reprints not available from the authors.
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.