Prenatal diagnosis of triploidy associated with holoprosencephaly: A case report and review of the literature

Gharid N. Bekdache, Muzib Begam, Walaa Al Safi, Hisham Mirghani

Research output: Contribution to journalArticlepeer-review

4 Citations (Scopus)

Abstract

We sought to identify risk factors of prenatal presentation of holoprosencephaly associated with triploidy. A case report is presented with review of the literature performed using the PubMed database. The latest search was done in June 2008. Literature review showed 11 reports with a total of 15 cases of holoprosencephaly associated with triploidy. The mean maternal age at diagnosis was 27±4.9 years, and the mean gestational age at diagnosis was 13.6±3.3 weeks. Triploidy was mainly associated with the alobar type of holoprosencephaly. Only 3 (20%) cases had associated placental abnormalities. In all cases, the pregnancy was terminated. The latest gestational age at which termination was performed was 23 weeks. Facial abnormalities were the most common associated feature (66.6%). The association of triploidy with holoprosencephaly is very rare. This association does not seem to be related to maternal age. It is mainly associated with alobar holoprosencephaly. Diagnosis is possible during the first trimester. Fetuses can survive up to the third trimester.

Original languageEnglish
Pages (from-to)479-483
Number of pages5
JournalAmerican Journal of Perinatology
Volume26
Issue number7
DOIs
Publication statusPublished - Aug 2009
Externally publishedYes

Keywords

  • Alobar holoprosencephaly
  • Placenta
  • Prenatal diagnosis
  • Triploidy

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Obstetrics and Gynaecology

Fingerprint

Dive into the research topics of 'Prenatal diagnosis of triploidy associated with holoprosencephaly: A case report and review of the literature'. Together they form a unique fingerprint.

Cite this