Increased nuchal translucency thickness: a potential indicator for Ritscher-Schinzel syndrome.
Fetal Diagn Ther
; 24(4): 395-9, 2008.
Article
em En
| MEDLINE
| ID: mdl-18957854
ABSTRACT
OBJECTIVE:
The Ritscher-Schinzel syndrome (RSS), also known as the 3C syndrome, is an autosomal recessive disorder classically comprising craniofacial, cerebellar and cardiac defects. The underlying molecular etiology remains unknown; therefore, prenatal diagnosis of recurrences depends on identification of the associated structural anomalies on second trimester ultrasound examination. Identification of recurrences using first-trimester ultrasound has not been reported previously.METHODS:
Two women who presented at our center with fetal nuchal abnormalities on first trimester ultrasound went on to have children with RSS. One of the women had also undergone a previous pregnancy termination for fetal anomalies consistent with RSS. The ultrasound findings and details of these 3 cases were reviewed.RESULTS:
Both cases of RSS and the third suspected case were found to have nuchal abnormalities on first-trimester scan. All went on to develop malformations consistent with RSS detectable on second-trimester ultrasound. The later 2 cases continued to term and the children had facial characteristics consistent with RSS.CONCLUSION:
First-trimester ultrasound assessment of nuchal translucency could be considered as a method for identifying sib recurrences of RSS. In addition, RSS should be on the differential diagnosis when increased nuchal translucency is seen on first-trimester scan.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Anormalidades Múltiplas
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Anormalidades Craniofaciais
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Síndrome de Dandy-Walker
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Medição da Translucência Nucal
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Cardiopatias Congênitas
Tipo de estudo:
Prognostic_studies
Limite:
Adolescent
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Adult
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Female
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Humans
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Newborn
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Pregnancy
Idioma:
En
Ano de publicação:
2008
Tipo de documento:
Article