Prenatal diagnose of a fetus with Harlequin ichthyosis in a Chinese family.
Taiwan J Obstet Gynecol
; 57(3): 452-455, 2018 Jun.
Article
em En
| MEDLINE
| ID: mdl-29880184
ABSTRACT
OBJECTIVE:
Harlequin ichthyosis (HI) was the most severe form of ichthyoses, which leaded to neonatal death in 50% of cases. It was the result of mutations in ABCA12 gene. With the development of ultrasound skills and genetic analysis, HI could be prenatal diagnosed. CASE REPORT Here, we reported a case of HI, which was prenatal diagnosed by ultrasound examination and genetic analysis. The fetus was found that severe ectropion, eclabium, flattened nose, and rudimentary ears by ultrasound at 20 weeks gestation. A molecular genetic analysis was performed and revealed two mutations in the ABCA12 gene. One of two mutations were not reported in the past. The fetus was terminated.CONCLUSION:
HI was associated with the poor prognosis of HI neonates. Prenatal ultrasound and genetic analysis were important for prenatal diagnosis of HI and were helpful to give sufficient prenatal counsels for the family with HI baby.Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Ictiose Lamelar
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Transportadores de Cassetes de Ligação de ATP
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Doenças Fetais
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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Male
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Pregnancy
Idioma:
En
Ano de publicação:
2018
Tipo de documento:
Article