Enlarged nuchal translucency in chromosomally normal fetuses: strong association with orofacial clefts.
Ultrasound Obstet Gynecol
; 36(4): 427-32, 2010 Oct.
Article
em En
| MEDLINE
| ID: mdl-20499406
ABSTRACT
OBJECTIVES:
The aim of this study was to investigate whether there is an association between enlarged nuchal translucency (NT) and orofacial clefts.METHODS:
The pregnancy outcome of women who underwent an NT measurement between January 2000 and November 2008 was reviewed. All orofacial clefts detected prenatally and postnatally in karyotypically normal fetuses/infants were reviewed and a distinction was made between isolated defects and clefts as part of multiple congenital anomalies (associated).RESULTS:
The cohort included 8638 fetuses. The NT was enlarged in 746 (8.6%). The karyotype was normal in 8347 fetuses, including 513 of the fetuses with an enlarged NT. Isolated or associated cleft lip, with or without cleft palate (CL/P), or cleft palate (CP) were diagnosed in 18 chromosomally normal fetuses (an incidence of 2.2 per 1000). In eight of these cases the NT was normal (8/7834; an incidence of 1.0 per 1000) and in the remaining 10 it was enlarged (10/513; an incidence of 19.5 per 1000). CL/P and CP were isolated or associated in three and seven of the chromosomally normal fetuses with an enlarged NT, respectively. Euploid fetuses with an enlarged NT had a relative risk for any clefts of 19 and a relative risk for isolated or associated clefts of 8 and 53, respectively (P < 0.001).CONCLUSIONS:
Chromosomally normal fetuses with an enlarged NT have an increased risk of orofacial clefts. CL/P and CP are, in these fetuses, mostly associated findings, frequently part of a genetic syndrome. A detailed ultrasound examination with special attention given to the orofacial area is indicated in these fetuses.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Fenda Labial
/
Fissura Palatina
/
Medição da Translucência Nucal
/
Doenças Fetais
Tipo de estudo:
Etiology_studies
/
Risk_factors_studies
Limite:
Adolescent
/
Adult
/
Female
/
Humans
/
Middle aged
/
Pregnancy
Idioma:
En
Revista:
Ultrasound Obstet Gynecol
Assunto da revista:
DIAGNOSTICO POR IMAGEM
/
GINECOLOGIA
/
OBSTETRICIA
Ano de publicação:
2010
Tipo de documento:
Article
País de afiliação:
Holanda