Journal article
Pharmacogenetic Screening for Susceptibility to Fetal Malformations in Women
The Annals of pharmacotherapy, Vol.34(5), pp.639-645
05/2000
DOI: 10.1345/aph.19218
PMID: 10852093
Abstract
OBJECTIVE:
To present a review of the literature and research on the pharmacogenetics of congenital defects, with a focus on the need for predictive maternal genotype assays.
DATA SOURCE:
MEDLINE searches (January 1985–January 1999), past reference reviews, and unpublished research.
STUDY SELECTION:
Review of relevant human, animal, and basic science studies.
DATA EXTRACTION:
Data on research on polymorphisms, genotyping, cytochrome P450 enzyme systems, epoxide hydrolase, folate metabolism, metabolism of anticonvulsant medications, molecular genetics of neural tube defects, variations in drug metabolism, and environmental exposures were evaluated.
DATA SYNTHESIS:
Data synthesis includes not only a review of the literature but suggests ways such data might be used to facilitate the development of maternal genotype assays, with the goal of preventing birth defects.
CONCLUSIONS:
Individuals vary in how they metabolize drugs and handle toxic environmental exposures. In an ideal pregnancy, there is no or limited exposure to medications and environmental agents. However, in women with chronic medical conditions such as heart disease and seizures, this is often not possible. Unfortunately, no techniques have been available to identify those at risk in this population. Gene polymorphisms for a specific enzyme may result in an absence or reduction in the level of enzyme activity or in no change at all, with little effect on the structure/function of the gene product(s); they are not associated with clinical phenotypes in either the mother or the fetus. Other polymorphisms may be only markers. Thus, developing genotyping assays for women that are predictive of phenotype expression in the fetus is the key to screening for polymorphisms. As more mutations are identified and clinical, pharmacologic, biologic, and pharmacokinetic relationships are established, using these polymorphisms to develop a genotyping assay for women may become a clinical reality, possibly leading to preventive prepregnancy or prenatal treatment that may play an increasingly effective role in maternal care.
Details
- Title: Subtitle
- Pharmacogenetic Screening for Susceptibility to Fetal Malformations in Women
- Creators
- Don C Van Dyke - University of Iowa, EpidemiologyVicki L Ellingrod - Vicki L Ellingrod PharmD, Pharmacy Associate, College of Pharmacy, The University of Iowa, Iowa City, IAMary J Berg - Mary J Berg PharmD, Professor of Pharmacy, College of Pharmacy, The University of IowaJennifer R Niebyl - University of Iowa, Obstetrics and GynecologyAndrea L Sherbondy - University of Iowa, Developmental and Behavioral PediatricsDimitri G Trembath - Dimitri G Trembath BS, PhD Student, College of Medicine, The University of Iowa
- Resource Type
- Journal article
- Publication Details
- The Annals of pharmacotherapy, Vol.34(5), pp.639-645
- DOI
- 10.1345/aph.19218
- PMID
- 10852093
- ISSN
- 1060-0280
- eISSN
- 1542-6270
- Language
- English
- Date published
- 05/2000
- Academic Unit
- Stead Family Department of Pediatrics; Epidemiology; Obstetrics and Gynecology; Developmental and Behavioral Pediatrics
- Record Identifier
- 9983557219702771
Metrics
32 Record Views