Prenatal diagnosis of tetrasomy 9p in a 19-week-old fetus with Dandy-Walker malformation: a case report.

Abstract

OBJECTIVE:

The presentation of sonographic and perinatal findings of tetrasomy 9p.

METHODS AND RESULTS:

Chorionic villus sampling and amniocentesis were performed at 19 weeks of gestation because of the sonographic findings of Dandy-Walker malformation with bilateral ventriculomegaly. Cytogenetic analysis showed 47,XX,+i psu dic(9)(pter->q12::q12>-pter). The pregnancy was terminated at 20 weeks of gestation at the request of the parents. At post-mortem examination, the presumed hypoplasia of the vermis could not be confirmed for technical reasons. No other pathological findings were seen.

CONCLUSION:

From our experience and from the literature, we conclude that Dandy-Walker malformation is an important finding in tetrasomy 9p. Chromosomal studies should be carried out in fetuses with sonographically detected Dandy-Walker malformation, even in the absence of other abnormalities.

• Authors: K L Deurloo, J M Cobben, Y M Heins, M de Ru, L C D Wijnaendts, J M G van Vugt
• Journal: Prenatal diagnosis (Prenat Diagn) Vol. 24 Issue 10 Pg. 796-8 (Oct 2004) ISSN: 0197-3851 [Print] England
• PMID: 15503289 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright (c) 2004 John Wiley & Sons, Ltd.

Topics

• Adult
• Amniotic Fluid (cytology)
• Aneuploidy
• Chromosomes, Human, Pair 9
• Cytogenetic Analysis (methods)
• Dandy-Walker Syndrome (diagnosis, diagnostic imaging, embryology, genetics)
• Female
• Fetal Diseases (diagnosis, diagnostic imaging, genetics)
• Gestational Age
• Humans
• In Situ Hybridization, Fluorescence
• Karyotyping
• Pregnancy
• Prenatal Diagnosis
• Ultrasonography, Prenatal (methods)