[Perinatal and pediatric follow up of children with increased nuchal translucency and normal karyotype].
OBJECTIVE
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.


CONCLUSIONS
During the monitoring of fetuses with increased NT and a normal karyotype, parents can be best advised that when a 2nd trimester morphological-echocardiography ultrasound study is normal, the probability of the child being born alive and well is high (93.5%).
Serviço de Ginecologia e Obstetrícia, Hospital do Servidor Público Estadual Francisco Morato de Oliveira-HSPE-FMO, São Paulo (SP), Brasil.
Lívia Adriano
LA
Vieira
Sônia Valadares Lemos
SV
Silva
Roberto Buenfil
RB
de Faria
Umberto Gazi
UG
Lippi
Reginaldo Guedes Coelho
RG
Lopes
D000293:Adolescent; D000328:Adult; D002675:Child, Preschool; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D059785:Karyotype; D008875:Middle Aged; D048208:Nuchal Translucency Measurement; D011247:Pregnancy; D012189:Retrospective Studies; D055815:Young Adult