Prenatal diagnosis of Bardet-Biedl syndrome: a multidisciplinary approach

Bardet-Biedl syndrome (BBS) is a rare ciliopathic human genetic disorder with mainly an autosomal recessive inheritance. BBS phenotype develops over the years and diagnosis is usually made in late childhood or early adulthood. Prenatal diagnosis is rare in the absence of family history or consanguin...

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Bibliographic Details
Published in:BMJ case reports 2021-01, Vol.14 (1), p.e238445
Main Authors: Vila Real, Daniela, Nogueira, Rosete, Sá, Joaquim, Godinho, Cristina
Format: Article
Language:English
Subjects:
Adult
Bardet-Biedl Syndrome - diagnosis
Case Report
Case reports
Disease
Family medical history
Female
Fetal Diseases - diagnosis
Fetuses
Fingers & toes
Genes
Genomes
Gestational age
Humans
Kidneys
Learning disabilities
Male
Medical diagnosis
Nervous system
Pregnancy
Prenatal Diagnosis
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Summary:Bardet-Biedl syndrome (BBS) is a rare ciliopathic human genetic disorder with mainly an autosomal recessive inheritance. BBS phenotype develops over the years and diagnosis is usually made in late childhood or early adulthood. Prenatal diagnosis is rare in the absence of family history or consanguinity. We present a prenatal case without a family history of inherited diseases or consanguinity. Mid-trimester ultrasound revealed hyperechogenic kidneys and postaxial polydactyly putting us on track of BBS. The fetopathology supported this diagnosis and the whole-exome sequencing confirmed the hypothesis. Our case illustrates how high-resolution obstetric scan, detailed observation of fetal features and application of gene sequencing technology contribute to elucidate the aetiology of rare, yet disabling and incurable disease, with the particular setting of negative family history.
ISSN:1757-790X
1757-790X
DOI:10.1136/bcr-2020-238445