{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T22:58:55Z","timestamp":1777417135723,"version":"3.51.4"},"reference-count":63,"publisher":"SAGE Publications","issue":"5","license":[{"start":{"date-parts":[[2000,5,1]],"date-time":"2000-05-01T00:00:00Z","timestamp":957139200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Ann Pharmacother"],"published-print":{"date-parts":[[2000,5]]},"abstract":"<jats:sec>\n                    <jats:title>OBJECTIVE:<\/jats:title>\n                    <jats:p>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.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>DATA SOURCE:<\/jats:title>\n                    <jats:p>MEDLINE searches (January 1985\u2013January 1999), past reference reviews, and unpublished research.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>STUDY SELECTION:<\/jats:title>\n                    <jats:p>Review of relevant human, animal, and basic science studies.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>DATA EXTRACTION:<\/jats:title>\n                    <jats:p>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.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>DATA SYNTHESIS:<\/jats:title>\n                    <jats:p>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.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>CONCLUSIONS:<\/jats:title>\n                    <jats:p>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.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1345\/aph.19218","type":"journal-article","created":{"date-parts":[[2003,6,3]],"date-time":"2003-06-03T16:38:03Z","timestamp":1054658283000},"page":"639-645","source":"Crossref","is-referenced-by-count":14,"title":["Pharmacogenetic Screening for Susceptibility to Fetal Malformations in Women"],"prefix":"10.1177","volume":"34","author":[{"given":"Don C","family":"Van Dyke","sequence":"first","affiliation":[{"name":"Don C Van Dyke MD, Associate Professor of Pediatrics, Children's Hospital of Iowa, University Hospital School, Iowa City, IA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vicki L","family":"Ellingrod","sequence":"additional","affiliation":[{"name":"Vicki L Ellingrod PharmD, Pharmacy Associate, College of Pharmacy, The University of Iowa, Iowa City, IA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mary J","family":"Berg","sequence":"additional","affiliation":[{"name":"Mary J Berg PharmD, Professor of Pharmacy, College of Pharmacy, The University of Iowa"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jennifer R","family":"Niebyl","sequence":"additional","affiliation":[{"name":"Jennifer R Niebyl MD, Professor of Obstetrics and Gynecology, Department of Obstetrics and Gynecology, The University of Iowa Hospitals and Clinics, Iowa City"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrea L","family":"Sherbondy","sequence":"additional","affiliation":[{"name":"Andrea L Sherbondy MD, Assistant Professor of Clinical Pediatrics, Children's Hospital of Iowa, University Hospital School"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dimitri G","family":"Trembath","sequence":"additional","affiliation":[{"name":"Dimitri G Trembath BS, PhD Student, College of Medicine, The University of Iowa"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2000,5,1]]},"reference":[{"key":"bibr1-aph.19218","first-page":"433","volume":"559","year":"1994","journal-title":"Fed Regist"},{"key":"bibr2-aph.19218","first-page":"513","volume":"40","year":"1991","journal-title":"MMWR Morb Mortal Wkly Rep"},{"key":"bibr3-aph.19218","first-page":"17","volume":"58","author":"Motulsky AG","year":"1996","journal-title":"Am J Hum Genet"},{"key":"bibr4-aph.19218","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(95)92778-6"},{"key":"bibr5-aph.19218","doi-asserted-by":"publisher","DOI":"10.1016\/0140-6736(91)90133-A"},{"key":"bibr6-aph.19218","doi-asserted-by":"publisher","DOI":"10.1001\/jama.1996.03530480035037"},{"key":"bibr7-aph.19218","first-page":"3129","volume-title":"The metabolic and molecular basis of inherited disease","author":"Fenton WA","year":"1995"},{"key":"bibr8-aph.19218","first-page":"3111","volume-title":"The metabolic and molecular basis of inherited disease","author":"Rosenblatt DS","year":"1995"},{"key":"bibr9-aph.19218","unstructured":"Finnell RH, Bennett GD, Vacha SJ, Eberwine JH. 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