Taiwanese Journal of Obstetrics and Gynecology
Volume 46, Issue 4 , Pages 325-335, December 2007

Chromosomal Abnormalities Associated with Neural Tube Defects (I): Full Aneuploidy

  • Chih-Ping Chen

      Affiliations

    • Corresponding Author InformationCorrespondence to: Dr Chih-Ping Chen, Department of Obstetrics and Gynecology, Mackay Memorial Hospital, 92, Section 2, Chung-Shan North Road, Taipei 104, Taiwan

Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Department of Medical Research, Mackay Memorial Hospital, Taipei, Department of Biotechnology, Asia University, College of Chinese Medicine, China Medical University, Taichung, and Institute of Clinical and Community Health Nursing, National Yang-Ming University, Taipei, Taiwan

Accepted 6 September 2007.

Article Outline

SUMMARY 

Fetuses with neural tube defects (NTDs) carry a risk of chromosomal abnormalities. The risk varies with maternal age, gestational age at diagnosis, association with other structural abnormalities, and family history of chromosome aberrations. This article provides an overview of chromosomal abnormalities associated with NTDs in embryos, fetuses, and newborn patients, and a comprehensive review of numerical chromosomal abnormalities associated with NTDs, such as trisomy 18, trisomy 13, triploidy, trisomy 9, trisomy 2, trisomy 21, trisomy 7, trisomy 8, trisomy 14, trisomy 15, trisomy 16, trisomy 5 mosaicism, trisomy 11 mosaicism, trisomy 20 mosaicism, monosomy X, and tetraploidy. NTDs may be associated with aneuploidy. Perinatal identification of NTDs should alert one to the possibility of chromosomal abnormalities and prompt a thorough cytogenetic investigation and genetic counseling.

Key Words:  chromosomal abnormalities , full aneuploidy , neural tube defects

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PII: S1028-4559(08)60002-9

doi:10.1016/S1028-4559(08)60002-9

Taiwanese Journal of Obstetrics and Gynecology
Volume 46, Issue 4 , Pages 325-335, December 2007

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