| Two cases of pontocerebellar hypoplasia: ethical and prenatal diagnostic dilemma. | |
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MedLine Citation:
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PMID: 19644791 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We report the clinical characteristics and the outcome of two cases of pontocerebellar hypoplasia (PCH) in one family. The objective of this report is to describe the mode of presentation, discuss the clinical course, and address the dilemma of prenatal diagnosis and the prospects for genetic diagnosis for PCH. The first case is a 4-year-old boy in whom the diagnosis was made in the neonatal period. Despite extensive prenatal follow-up during the mother's subsequent pregnancy, prenatal diagnosis could not be made and a second affected child was born. Both siblings have severe developmental delay. The cases raise an important ethical dilemma about the most appropriate intervention if the mother of a child affected with PCH becomes pregnant. PCH is considered to have an autosomal-recessive mode of inheritance and a recurrence risk of 25% in each pregnancy. Until recently when genetic mutations in PCH types 2, 4, and 6 began to be identified, the lack of well-recognized genetic testing precluded experts from making clear recommendations. The best advice to these parents was difficult or elusive. With two children currently affected, should the parents terminate or continue with the latest pregnancy? Extensive monitoring with serial prenatal ultrasound failed in the previous pregnancy and resulted in the birth of the second affected child. It is evident that serial ultrasound scan may not be helpful in making the diagnosis prenatally. Therefore, other diagnostic modalities such as magnetic resonance imaging may be necessary and should be considered. With the identification of genetic basis or mutations in PCH types 2, 4, and 6 and possible development of commercial genetic testing for these types of PCH, reproductive decision or genetic testing during pregnancy should be recommended to affected families to enable informed choices. |
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Authors:
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Ayodeji J Ajibola; Michael Netzloff; Ranji Samaraweera; Said A Omar |
Publication Detail:
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Type: Case Reports; Journal Article Date: 2009-07-30 |
Journal Detail:
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Title: American journal of perinatology Volume: 27 ISSN: 1098-8785 ISO Abbreviation: Am J Perinatol Publication Date: 2010 Feb |
Date Detail:
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Created Date: 2010-01-22 Completed Date: 2010-04-06 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 8405212 Medline TA: Am J Perinatol Country: United States |
Other Details:
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Languages: eng Pagination: 181-7 Citation Subset: IM |
Copyright Information:
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Thieme Medical Publishers. |
Affiliation:
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Division of Neonatology, Department of Pediatrics and Human Development, College of Human Medicine, Michigan State University, East Lansing, MI 48912, USA. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adult Brain / pathology Cerebellum / abnormalities Child, Preschool Congenital Abnormalities / genetics Consanguinity Decision Making* Developmental Disabilities / etiology Ethics, Medical* Female Humans Infant, Newborn Magnetic Resonance Imaging Male Mutation Pons / abnormalities* Pregnancy Siblings Ultrasonography, Prenatal |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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