Original Article

Orofacial clefts and spina bifida: N-Acetyltransferase phenotype, maternal smoking, and medication use

  1. Iris A.L.M. Van Rooij1,2,
  2. Pascal M.W. Groenen1,2,
  3. Merel Van Drongelen1,
  4. René H.M. Te Morsche3,
  5. Wilbert H.M. Peters3,
  6. Régine P.M. Steegers-Theunissen1,2,*

Article first published online: 23 OCT 2002

DOI: 10.1002/tera.10096

Issue

Teratology

Teratology

Volume 66, Issue 5, pages 260–266, November 2002

Additional Information

How to Cite

Van Rooij, I. A., Groenen, P. M., Van Drongelen, M., Te Morsche, R. H., Peters, W. H. and Steegers-Theunissen, R. P. (2002), Orofacial clefts and spina bifida: N-Acetyltransferase phenotype, maternal smoking, and medication use. Teratology, 66: 260–266. doi: 10.1002/tera.10096

Author Information

  1. 1

    Department of Epidemiology and Biostatistics, University Medical Center Nijmegen, Nijmegen, The Netherlands

  2. 2

    Department of Obstetrics and Gynecology, University Medical Center Nijmegen, Nijmegen, The Netherlands

  3. 3

    Department of Gastroenterology, University Medical Center Nijmegen, Nijmegen, The Netherlands

*Department of Epidemiology and Biostatistics and Department of Obstetrics and Gynecology, University Medical Center Nijmegen, PO Box 9101, 6500 HB Nijmegen, The Netherlands

Publication History

  1. Issue published online: 23 OCT 2002
  2. Article first published online: 23 OCT 2002
  3. Manuscript Accepted: 17 JUN 2002
  4. Manuscript Received: 7 MAR 2002

Funded by

  • Royal Netherlands Academy of Arts and Sciences (KNAW)

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Abstract

Background

Orofacial clefts and spina bifida are midline defects with a multifactorial etiology. Maternal smoking and medication use periconceptionally have been studied as risk factors for these malformations. The biotransformation enzyme N-acetyltransferase 2 (NAT2), plays a part in the inactivation of toxic compounds in cigarette smoke and medication. We investigated maternal NAT2 phenotype and the interaction with smoking and medication use periconceptionally on orofacial cleft and spina bifida risk in offspring.

Methods

In this case-control study of 45 mothers of orofacial cleft children, 39 mothers of spina bifida children and 73 control mothers, NAT2 acetylator status was determined by measuring urinary caffeine metabolites.

Results

Slow NAT2 acetylators showed no increased risk for orofacial cleft (OR = 1.0, 95% CI: 0.4–2.3) or spina bifida offspring (OR = 0.7, 95% CI: 0.3–1.7) compared to fast NAT2 acetylators. More mothers with orofacial cleft and spina bifida offspring smoked cigarettes (36% and 23% respectively) and used medication periconceptionally (38% and 44% respectively) compared to control mothers (smoking:18%, medication use:19%). No interaction between maternal NAT2 acetylator status and smoking or medication use was observed for orofacial cleft and spina bifida risk.

Conclusions

Maternal smoking and medication use is associated with orofacial cleft risk as well as medication use is with spina bifida. The maternal NAT2 acetylator status, however, was not associated with an increased risk for orofacial cleft or spina bifida offspring, nor in combination with periconceptional smoking or medication use. Teratology 66:260–266, 2002. © 2002 Wiley-Liss, Inc.

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