Case report: targeted whole exome sequencing enables the first prenatal diagnosis of the lethal skeletal dysplasia Osteocraniostenosis.
BMC Med Genet
; 21(1): 7, 2020 01 07.
Article
em En
| MEDLINE
| ID: mdl-31910817
ABSTRACT
BACKGROUND:
Osteocraniostenosis (OCS) is a rare genetic disorder characterised by premature closure of cranial sutures, gracile bones and perinatal lethality. Previously, diagnosis has only been possible postnatally on clinical and radiological features. This study describes the first prenatal diagnosis of OCS. CASE PRESENTATION In this case prenatal ultrasound images were suggestive of a serious but non-lethal skeletal dysplasia. Due to the uncertain prognosis the parents were offered Whole Exome Sequencing (WES), which identified a specific gene mutation in the FAMIIIa gene. This mutation had previously been detected in two cases and was lethal in both perinatally. This established the diagnosis, a clear prognosis and allowed informed parental choice regarding ongoing pregnancy management.CONCLUSIONS:
This case report supports the use of targeted WES prenatally to confirm the underlying cause and prognosis of sonographically suspected abnormalities.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Diagnóstico Pré-Natal
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Doenças do Desenvolvimento Ósseo
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Citocinas
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Anormalidades Craniofaciais
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Sequenciamento do Exoma
Tipo de estudo:
Diagnostic_studies
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Prognostic_studies
Limite:
Adult
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Female
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Humans
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Newborn
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Pregnancy
Idioma:
En
Revista:
BMC Med Genet
Assunto da revista:
GENETICA MEDICA
Ano de publicação:
2020
Tipo de documento:
Article
País de afiliação:
Reino Unido