Birth Defects

birth defects, abnormalities in physical or mental structure or function that are present at birth. They range from minor to seriously deforming or life-threatening. A major defect of some type occurs in approximately 3% of all births. Defects may be genetic in origin, as in Down syndrome, Tay-Sachs disease, sickle cell disease, and hemophilia, or may be the result of infections, such as rubella and sexually transmitted diseases. Other teratogenic (malformation-causing) agents include drugs or hormones taken by the mother (e.g., thalidomide and DES) and maternal illnesses (e.g., diabetes). The mother's nutrition, drinking (see fetal alcohol syndrome), smoking, and drug abuse, as well as exposure to toxic chemicals and radiation, can also affect the developing fetus. Smoking, drugs, toxic chemicals, and the like can also damage the father's sperm, which may pass on the defect to the embryo in fertilization. The incidence of some disorders is elevated when the mother or father is older, which increases the likelihood of age-related gene mutations. Certain birth defects can now be detected prenatally through amniocentesis and chorionic villus sampling. Surgical procedures to correct certain disorders before birth are still considered experimental.

The Columbia Encyclopedia, 6th ed. Copyright© 2014, The Columbia University Press.

Birth Defects: Selected full-text books and articles

The Development of Infants Born at Risk
Deborah L. Holmes; Jill Nagy Reich; Joseph F. Pasternak.
Lawrence Erlbaum Associates, 1984
Understanding Genetics: A Primer for Couples and Families
Angela Scheuerle.
Praeger, 2005
Librarian’s tip: Chap. 10 "Abnormalities in the Fetus and Infant"
Prenatal Testing: A Sociological Perspective
Aliza Kolker; B. Meredith Burke.
Bergin & Garvey, 1994
Librarian’s tip: Discussion of birth defects begins on p. 70
Pregnancy, Birth, and the Early Months: The Thinking Woman's Guide
Richard I. Feinbloom.
Perseus Publishing, 2000 (3rd edition)
Librarian’s tip: Discussion of birth defects begins on p. 141
Dioxin, Agent Orange: The Facts
Michael Gough.
Plenum Press, 1986
Librarian’s tip: Chap. 6 "Agent Orange and Birth Defects"
Birth Malformations and Other Adverse Perinatal Outcomes in Four U.S. Wheat-Producing States
Schreinemachers, Dina M.
Environmental Health Perspectives, Vol. 111, No. 9, July 2003
PEER-REVIEWED PERIODICAL
Peer-reviewed publications on Questia are publications containing articles which were subject to evaluation for accuracy and substance by professional peers of the article's author(s).
"Birth Malformations and Other Adverse Perinatal Outcomes": Available Data Sources Pose a Dilemma
Kirby, Russell S.; Salihu, Hamisu M.
Environmental Health Perspectives, Vol. 111, No. 16, December 2003
PEER-REVIEWED PERIODICAL
Peer-reviewed publications on Questia are publications containing articles which were subject to evaluation for accuracy and substance by professional peers of the article's author(s).
Off to a Good Start: The Influence of Pre- and Periconceptional Exposures, Parental Fertility, and Nutrition on Children's Health
Chapin, Robert E.; Robbins, Wendie A.; Schieve, Laura A.; Sweeney, Anne M.; Tabacova, Sonia A.; Tomashek, Kay M.
Environmental Health Perspectives, Vol. 112, No. 1, January 2004
PEER-REVIEWED PERIODICAL
Peer-reviewed publications on Questia are publications containing articles which were subject to evaluation for accuracy and substance by professional peers of the article's author(s).
Fetal Protection in the Workplace: Women's Rights, Business Interests, and the Unborn
Robert H. Blank.
Columbia University Press, 1993
Librarian’s tip: Discussion of birth defects begins on p. 64
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