women s health issues
Overview of Genetic Disorders
Introduction
Genetic disorders are disorders caused by abnormalities in one or more Genes and Chromosomes . Some genetic disorders are hereditary and others are spontaneous. Hereditary genetic disorders are passed down from generation to generation. Spontaneous genetic disorders are not passed down from one generation to another, but they occur when genetic material in the father’s sperm or mother's egg cells or in the cells of the developing embryo is damaged by chance or by drugs, chemicals, or other damaging substances (such as x-rays). Before women become pregnant, they and their partner should speak with their health care practitioner about their risk of having a baby with a genetic disorder. Risk factors include older age in the woman, a family history of genetic abnormalities, a previous baby with a birth defect or miscarriage, and a chromosomal abnormality in one of the prospective parents. Testing for genetic disorders is offered to all women but is particularly important if a couple’s risk is higher than normal. (See also Overview of Chromosome and Gene Disorders and supplements to help prevent brain or spinal cord birth defects ( Neural Tube Defects and Spina Bifida ), such as spina bifida. Couples can also ask their doctor to determine whether their risk of having a baby with a hereditary genetic abnormality is higher than average. If so, tests that can help assess those risks more precisely ( Genetic Screening Before Pregnancy ) can be done. If these tests show a high risk of passing on a serious genetic abnormality, the couple can consider the following: Using sperm from another man if the man has an abnormal gene Using an egg from another woman if the woman has an abnormal gene Having In vitro (test tube) fertilization (IVF) with analysis of the embryo's genes before the embryo is transferred to the woman’s uterus (called Choosing not to become pregnant and using Overview of Contraception None If the woman is already pregnant, the doctor explains what procedures can be used to test the fetus during the pregnancy ( Prenatal Diagnostic Testing ). The doctor also explains the options that are available if an abnormality is diagnosed. Couples should take time to absorb the information and should ask any questions they have. 