Prenatal diagnosis of 5p deletion syndrome in a female fetus leading to identification of the same diagnosis in her mother. (6th August 2014)

• Record Type: Journal Article
• Authors: Nguyen, Joanne Macayran; Gamble, Candace; Smith, Janice L.; Raia, Marianna; Johnson, Anthony; Czerwinski, Jennifer
• Is Part Of: Prenatal diagnosis. Volume 34:Number 11(2014:Nov.)
• Page Start: 1115
• Page End: 1118
• Publication Date: 2014-08-06
• Subjects: Prenatal diagnosis -- Periodicals; Fetus -- Diseases -- Diagnosis -- Periodicals; Electronic journals; 618.32075
• DOI: 10.1002/pd.4436
• Languages: English
• ISSNs: 0197-3851

Abstract

<abstract abstract-type="short"> <title> <x xml:space="preserve">Abstract</x> </title> <p> <bold>What's already known about this topic?</bold> <list id="pd4436-list-0001" list-type="bullet"> <list-item id="pd4436-li-0001"> <p>Elevated or decreased human chorionic gonadotrophin from second trimester maternal serum screens have been seen in pregnancies affected with 5p deletion syndrome (5p−syndrome).</p> </list-item> <list-item id="pd4436-li-0002"> <p>Clinical variability does exist for 5p−syndrome, although the more severe, classic presentation is best described with limited descriptions available for milder presentations.</p> </list-item> </list> </p> <p> <bold>What does this study add?</bold> <list id="pd4436-list-0002" list-type="bullet"> <list-item id="pd4436-li-0003"> <p>Analyte values were normal in this case that suggests that normal fetal anatomy and maternal serum analytes may be present in the second trimester of pregnancy in cases of 5p−syndrome.</p> </list-item> <list-item id="pd4436-li-0004"> <p>It is important to further define the mild end of the 5p−phenotypic spectrum that may allow increased recognition of previously undiagnosed, affected individuals.</p> </list-item> </list> </p> </abstract>