[Birth defects associated with increased nuchal translucency]. / Defectos congénitos asociados con translucencia nucal aumentada.
Ginecol Obstet Mex
; 78(10): 533-9, 2010 Oct.
Article
em Es
| MEDLINE
| ID: mdl-21966770
ABSTRACT
BACKGROUND:
Nuchal translucency is widely used to screen for trisomy 21 in the first trimester of pregnancy. It has also been associated with other chromosomal abnormalities, genetic syndromes and congenital defects.OBJECTIVE:
To evaluate the perinatal outcome of patients who showed nuchal translucency greater or equal to 95th percentile during the first trimester ultrasound screening, which underwent fetal karyotype. MATERIAL ANDMETHOD:
Case series. Fetuses with nuchal translucency greater or equal to 95th percentile were evaluated by fetal karyotype, second-trimester structural ultrasound scan, fetal echocardiography and postnatal clinical genetic evaluation, attended in the servicio de Genética of the Instituto Nacional de Perinatología Isidro Espinosa de los Reyes.RESULTS:
48 fetuses were evaluated. The karyotype was normal in 39 (81%) and abnormal in 9 (19%) cases of which three had trisomy 21, three monosomy X, two trisomy 18 and one 47,XYY In the cases with normal karyotype, 13 (33%) showed an abnormal second trimester ultrasound scan; among them, 12 had major congenital defects, 5 of them had abnormal cardiac findings that were confirmed by fetal echocardiography. In the group of 26 fetuses with normal karyotype and ultrasound, only 2 patients had minor birth defects.CONCLUSIONS:
Increased fetal nuchal translucency is frequently associated with chromosomal abnormalities and several congenital defects, mostly heart defects and genetic syndromes. Our findings are in accordance with other published reports where a complete follow-up of all patients with increased nuchal translucency is recommended even if they have a normal karyotype, due to the increased risk of having other congenital defects or syndromic entities.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Anormalidades Congênitas
/
Transtornos Cromossômicos
/
Medição da Translucência Nucal
/
Feto
Tipo de estudo:
Prognostic_studies
/
Risk_factors_studies
Limite:
Female
/
Humans
/
Newborn
/
Pregnancy
Idioma:
Es
Ano de publicação:
2010
Tipo de documento:
Article