Description
Because of advances in medicine, especially in the field of genetic mapping, it is possible for many of the previous century and decades' most crippling congenital conditions to be identified before birth. This places parents in the unique position of being able to decide whether or not to abort before term-a weighty and uncomfortable burden of responsibility to be sure, fraught with ethical and religious issues. Nevertheless, it is science's gift and duty to be able to advise parents of the likely outcome of such genetic conditions, so that they can decide for themselves.
Indications for genetic counseling and testing
1. At the time of delivery if a defect is present, or if the mother is 35 years old or older.
2. Parents have reciprocal translocation.
3. Parents previously had a baby with a chromosome deformity or neural tube deficiency.
4. Danger of disease from recessive autosome or recessive X chromosome exists.
5. The mother has been exposed to deformity-causing substances.
# As with other diseases, the following rules apply if a genetic disorder is suspected. The doctor and patient must communicate truthfully during genetic counseling to meet all diagnostic objectives. The doctor performing the genetic counseling should provide information but should not suggest a specific course.
# First, to determine what genetic diseases are present within the family, the family's medical history, including cousins, must be reviewed. Spontaneous abortions, stillbirths, and newborns with deformities must be recorded. Drugs or medication used during and before pregnancy must also be recorded. If the mother is 35 or older, she must receive genetic counseling; if the father is 40 or older, the frequency of dominant mutations (e.g., achondroplasia) increases.
# Couples who have experienced abnormal births undergo emotional changes such as denial, anger, guilt, bargaining, and resolution. In the beginning, it is good to simply be supportive. After 4-6 weeks, and once the baby's guardians have accepted the facts, genetic counseling can begin.
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