Aneuploidy with neural tube defects: Another reason for complete evaluation in patients with suspected ultrasound anomalies or elevated maternal serum alpha-fetoprotein

Arie Drugan, Mark Paul Johnson, Elaina Dvorin, Joyce Moody, Eric L. Krivchenia, David Schwartz, Mark I. Evans

Research output: Contribution to journalArticle

Abstract

Some recent reports have suggested that invasive testing is unnecessary when ultrasound either confirms or refutes a neural tube defect (NTD). However, counseling for recurrence risks and the possibilities for in utero therapy would be significantly altered by an aneuplotd karyotype. We report our experience with 53 pregnancies affected by NTD in which we found 13.2% of these fetuses with abnormal chromosomes. In view of the higher than previously published incidence of aneuploidy, we believe that fetal karyotypes are essential in the evaluation of all fetuses with NTDs.

Original languageEnglish (US)
Pages (from-to)88-92
Number of pages5
JournalFetal Diagnosis and Therapy
Volume4
Issue number2-3
DOIs
StatePublished - Jan 1 1989

Keywords

  • Aneuploidy
  • Neural tube defects
  • α-Fetoprotein

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Embryology
  • Radiology Nuclear Medicine and imaging
  • Obstetrics and Gynecology

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