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

Sénat, Marie-Victoire; Bussières, Laurence; Couderc, Sophie; Roume, J.; Rozenberg, Patrick; Bouyer, Jean; Ville, Y.

doi:10.1016/j.ajog.2006.08.026

Cited by 58 publications

(103 citation statements)

References 26 publications

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“…In Senat's paper, follow-up at the age of 2 using the Ages and Stages questionnaire filled in by 162 couples, reassuring results were reported. The incidence of developmental delay in children with enlarged NT was 1.2%, which was not statistically different when compared to a control group of 370 unselected infants (Senat et al, 2007). These results are in keeping with the incidence of developmental delay in our series: 1.6% (7/425), of which only 1/3 was not associated with ultrasound features that may have triggered suspicion (0.5%) (Bilardo Wax et al 2008Wax et al et al, 2007.…”

Section: Neurodevelopmental Delaysupporting

confidence: 79%

Increased nuchal translucency in euploid fetuses—what should we be telling the parents?

et al. 2010

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Nuchal translucency (NT) measurement between 11 and 14 weeks' gestation is an undisputed marker for aneuploidies. When conventional karyotyping is normal, enlarged NT is a strong marker for adverse pregnancy outcome, associated with miscarriage, intrauterine death, congenital heart defects, and numerous other structural defects and genetic syndromes. The risk of adverse outcome is proportional to the degree of NT enlargement. Although the majority of structural anomalies are amenable to ultrasound detection, unspecified genetic syndromes involving developmental delay may only emerge after birth. Concern over these prenatally undetectable conditions is a heavy burden for parents. However, following detection of enlarged NT the majority of babies with normal detailed ultrasound examination and echocardiography will have an uneventful outcome with no increased risk for developmental delay when compared to the general population. Counseling should emphasize this to help parents restore hope in normal pregnancy outcome and infant development. Copyright © 2010 John Wiley & Sons, Ltd.

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Section: Neurodevelopmental Delaysupporting

confidence: 79%

Increased nuchal translucency in euploid fetuses—what should we be telling the parents?

et al. 2010

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“…Chromosomally normal fetuses with an increased NT (above the 95th centile for gestational age) are at increased risk of adverse pregnancy outcome. Moreover, an increased NT thickness has also been associated with a wide range of structural abnormalities and genetic syndromes involving neurodevelopmental delay (Pajkrt et al, 1999;Souka et al, 2005;Bilardo et al, 2007;Senat et al, 2007). Among the genetic syndromes the most frequently reported is Noonan syndrome.…”

Section: Introductionmentioning

confidence: 99%

Targeted ultrasound examination and DNA testing for Noonan syndrome, in fetuses with increased nuchal translucency and normal karyotype

et al. 2011

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Objective To define sonographic criteria that may improve the prenatal diagnosis of Noonan syndrome by targeted DNA testing.Methods We searched our Fetal Medicine Unit records for all cases with a final diagnosis of Noonan syndrome. A literature review was undertaken to identify the sonographic features of Noonan syndrome fetuses. Information was pooled to define the most common features.Results In our database, we identified three cases of Noonan syndrome. The diagnosis was suspected prenatally in two of them. Thirty-nine cases were identified in the literature. In the presented cases we show that suspicion of Noonan syndrome should arise when, after an increased nuchal translucency, ultrasound investigation in the second trimester shows a persistant nuchal fold (NF) or cystic hygroma in combination with at least one of the following features: hydrops fetalis, pleural effusion, cardiac anomalies, polyhydramnios or specific facial abnormalities. ConclusionPrenatal ultrasound findings in Noonan syndrome can be subtle and aspecific, but when specific characteristics are present additional targeted DNA analysis is indicated.

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“…As anomalias estruturais foram detectadas em 9,5% dos fetos, estando de acordo com outros estudos [18][19][20]33 , sendo que 80% delas eram cardíacas. A literatura mostra a predominância de alterações cardíacas entre as anomalias estruturais 6,[17][18][19][20]24,25,34 . Um importante estudo de revisão mostra que a prevalência de anormalidades fetais maiores na população com TN normal é de 1,6%, havendo uma elevação exponencial com o aumento da TN, sendo 1,5 vezes maior em casos de TN entre os percentis 95 e 99 (2,5%) e quase 30 vezes maior em TN ≥6,5 mm (46,2%) 16 .…”

Section: Discussionunclassified

“…Outros estudos confirmam achado 16,18,24,25,29 . Quanto à avaliação pós-natal, ela foi normal (nascidos vivos e bem) em 92,5%.…”

Section: Discussionunclassified

“…Em um estudo com 179 fetos com o cariótipo normal e a TN acima do percentil 99, foram encontradas, entre os 162 nascidos vivos acompanhados até os 2 anos de idade, alterações em 11%, sendo metade com defeitos cardíacos [23][24][25] . Outro estudo que analisou 451 fetos com o cariótipo normal e a TN acima do percentil 95 (P95) detectou 19% de resultados adversos 18 .…”

Section: Introductionunclassified

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Evolução perinatal e pediátrica de crianças com translucência nucal aumentada e cariótipo normal

Vieira¹,

Silva²,

Faria³

et al. 2013

Rev. Bras. Ginecol. Obstet.

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(45,6%). Nos fetos com cariótipo normal, houve um abortamento na 15ª semana gestacional com pentalogia de Cantrel, um óbito na 24ª semana com diversas anomalias estruturais, um óbito neonatal sem causa definida e dois casos de comunicação intraventricular (CIV) detectados no ECO fetal. Na avaliação ecocardiográfica pós-natal, persistiu um caso de CIV e foi diagnosticado um caso de comunicação interatrial (CIA) e persistência do canal arterial (PCA). Entre os 40 casos sobreviventes, apenas 1 criança apresentou atraso no desenvolvimento da fala e outra apresentou quadro de autismo. Os demais casos resultaram em desenvolvimento neuropsicomotor normal. CONCLUSÃO: No acompanhamento dos fetos com TN aumentada e cariótipo normal, os pais podem ser mais bem aconselhados de que, frente a um exame morfológico-ecocardiográfico do 2° trimestre sem alterações, a probabilidade de a criança nascer viva e bem é alta (93,5%). Abstract PURPOSE:To analyze the perinatal and pediatric outcome of fetuses that showed nuchal translucency (NT) above the 95th percentile (P95) and a normal karyotype in order to obtain data allowing better maternal prenatal counseling. METHODS: fetuses from a tertiary obstetric service with an NT above P95 and a normal karyotype were analyzed between 2005 and 2011. We analyzed gestational ultrasound follow-up, fetal and postnatal echocardiography (ECHO), weight, length and Apgar score at birth, and neuropsychomotor development by the Ages and Stages Questionnaire (ASQ) up to July 2012. RESULTS: During this period, there were 116 cases of nuchal translucency above the 95th percentile, and the fetal karyotype was determined in 79 of them (68%). Forty-three analyses were normal (54.4%) and 36 were altered (45.6%). Among the fetuses with a normal karyotype, one was miscarried at 15 weeks of gestation with Cantrel pentalogy and one died at 24 weeks with several structural abnormalities. There was one neonatal death of unknown cause and two cases of intraventricular communication (IVC) detected by fetal ECHO. Postnatal echocardiography revealed the persistence of IVC in one case and one case of atrial septal defect (ASD) and patent ductus arteriosus (PDA). Of the 40 surviving children, only 1 showed delayed speech development and another presented autism. The remaining cases resulted in normal neurodevelopment. CONCLUSION: During the monitoring of fetuses with increased NT and a normal karyotype, parents can be best advised that when a 2 nd trimester morphologicalechocardiography ultrasound study is normal, the probability of the child being born alive and well is high (93.5%).

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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

Abstract: 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.

Cited by 58 publications

References 26 publications

Increased nuchal translucency in euploid fetuses—what should we be telling the parents?

Increased nuchal translucency in euploid fetuses—what should we be telling the parents?

Targeted ultrasound examination and DNA testing for Noonan syndrome, in fetuses with increased nuchal translucency and normal karyotype

Evolução perinatal e pediátrica de crianças com translucência nucal aumentada e cariótipo normal

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