A normal 20‐week scan of a euploid fetus with a history of first‐trimester increased nuchal translucency: caution or reassurance?

Bekker, M. N.

doi:10.1002/uog.4071

Cited by 9 publications

(10 citation statements)

References 25 publications

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“…In limb‐reduction defects, the reason for improvement was that the four limbs were routinely checked together with both hands and feet in each scan. Other structural anomalies potentially associated with an increased NT are diaphragmatic hernia and bilateral talipes4, 20, 37, 38.…”

Section: Discussionmentioning

confidence: 99%

First‐trimester detection of structural abnormalities and the role of aneuploidy markers

Grande

Arigita

Borobio

et al. 2012

Ultrasound in Obstet & Gyne

103

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Section: Discussionmentioning

confidence: 99%

First‐trimester detection of structural abnormalities and the role of aneuploidy markers

Grande

Arigita

Borobio

et al. 2012

Ultrasound in Obstet & Gyne

103

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“…Studies on large series and longterm follow-up with standardized clinical evaluation of the infants are necessary to provide reliable data and prevent underestimation (Souka et al, 2005;Bekker, 2007). Nine long-term follow-up studies have thus far reported an incidence of developmental delay varying between 0 and 8.7% (Table 2) in chromosomally and anatomically normal fetuses with increased NT.…”

Section: Neurodevelopmental Delaymentioning

confidence: 99%

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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“…O número de anormalidades relacionadas ao aumento da TN não é conhecido. Entretanto, grande parte dos fetos com TN aumentada se mostram neonatos saudáveis 26 . Portanto, TN aumentada não significa necessariamente anormalidade fetal e, sim, risco aumentado para tal.…”

Section: Introductionunclassified

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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A normal 20‐week scan of a euploid fetus with a history of first‐trimester increased nuchal translucency: caution or reassurance?

Cited by 9 publications

References 25 publications

First‐trimester detection of structural abnormalities and the role of aneuploidy markers

First‐trimester detection of structural abnormalities and the role of aneuploidy markers

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

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

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