open access

Vol 86, No 2 (2015)
ARTICLES
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Familial congenital diaphragmatic hernia with anencephly – exencephaly and spina bifida

Maria Hussey, Paweł Własienko, Tomasz Adamczyk, Joanna Dangel
DOI: 10.17772/gp/2004
·
Ginekol Pol 2015;86(2).

open access

Vol 86, No 2 (2015)
ARTICLES

Abstract

Congenital Diaphragmatic Hernia (CDH) occurs with an estimated incidence of 1 to 2500 live births. Even though the exact etiology is still unknown, more and more often current research points out genetic factors as the possible cause of the defect. According to the latest data and the own experience 50-60% of CDH cases are isolated. The rest forms a group of CDH complicated by an additional anatomic defect or a genetic syndrome caused by a mutation of a single gene or the whole chromosome.We have presented a case study of a 32 years-old multigravida para 3, who has been referred to the Reference Centre of Prenatal Cardiology in 30 weeks of gestation due to the diagnosis of acrania with exencephaly, spina bifida and suspicion for CDH in a fetus. Although the patient’s first child died due to CDH, the patient neither before nor during the pregnancy was getting a folic acid supplementation. Moreover, she has not agreed on a further cytogenetic testing or an advanced consultation with a clinical geneticist. The child died after delivery in a local hospital. The case was described to indicate the problem that the CDH diagnostic procedure is still missing a molecular genetic analysis especially in the cases of recurrent CDH. By saying that in the cases of CDH we should always strive to complete the molecular testing having in mind that by discovering pathogenesis and genes responsible for the formation of CDH we not only might improve the therapeutic methods but also find a way to prevent its development.

Abstract

Congenital Diaphragmatic Hernia (CDH) occurs with an estimated incidence of 1 to 2500 live births. Even though the exact etiology is still unknown, more and more often current research points out genetic factors as the possible cause of the defect. According to the latest data and the own experience 50-60% of CDH cases are isolated. The rest forms a group of CDH complicated by an additional anatomic defect or a genetic syndrome caused by a mutation of a single gene or the whole chromosome.We have presented a case study of a 32 years-old multigravida para 3, who has been referred to the Reference Centre of Prenatal Cardiology in 30 weeks of gestation due to the diagnosis of acrania with exencephaly, spina bifida and suspicion for CDH in a fetus. Although the patient’s first child died due to CDH, the patient neither before nor during the pregnancy was getting a folic acid supplementation. Moreover, she has not agreed on a further cytogenetic testing or an advanced consultation with a clinical geneticist. The child died after delivery in a local hospital. The case was described to indicate the problem that the CDH diagnostic procedure is still missing a molecular genetic analysis especially in the cases of recurrent CDH. By saying that in the cases of CDH we should always strive to complete the molecular testing having in mind that by discovering pathogenesis and genes responsible for the formation of CDH we not only might improve the therapeutic methods but also find a way to prevent its development.
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Keywords

Congenital diaphragmatic hernia (CDH) / acrania / prenatal diagnosis / familial incidence of CDH

About this article
Title

Familial congenital diaphragmatic hernia with anencephly – exencephaly and spina bifida

Journal

Ginekologia Polska

Issue

Vol 86, No 2 (2015)

DOI

10.17772/gp/2004

Bibliographic record

Ginekol Pol 2015;86(2).

Keywords

Congenital diaphragmatic hernia (CDH) / acrania / prenatal diagnosis / familial incidence of CDH

Authors

Maria Hussey
Paweł Własienko
Tomasz Adamczyk
Joanna Dangel

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