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

Abstract

(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%).

Translucencia nucal y pliegue nucal aumentado con recién nacido fenotípicamente normal. Reporte de caso

“…Por otra parte, Vieira et al 20 , en un gran estudio de seguimiento, analizaron los resultados de los fetos con aumento de TN y reportan que el 54.4% de dichos fetos eran euploides y que el 93.5% de estos fetos tuvieron partos y desarrollo postnatal normales, concluyendo que el aumento de TN con cariotipo normal y un estudio ecográfico morfológico-ecocardiográfico del segundo trimestre sin alteraciones, la probabilidad de que el niño nazca vivo y sano es alta.…”

Increased nuchal translucency in fetuses with a normal karyotype—diagnosis and management

“…In a large follow-up study, Vieira et al [11] analyzed the outcomes of fetuses with increased NT and found that 54.4% of such fetuses were euploid and that 93% of these fetuses had normal births and immediate postnatal development, with only 3 cases involving miscarriage or neonatal death. In our study, outcomes were normal status at birth for 54% of fetuses, including 40 out of the 58 euploid cases (69%), and perinatal complications in 17% of cases.…”