Published November 27, 2007
Good health is one of the best baby gifts you can give a child. In recent years tremendous progress has been made in the development of genetic tests to diagnose heritable diseases. You may wish to consult your physician about genetic counseling if:
- You have a family history of hereditary disease or mental retardation of unknown origin
- You are a woman over the age of thirty-five
- You have had a previous child with a chromosomal or other genetic disorder of any birth defects
- You have had three or more miscarriages or a stillbirth
If you have any concerns, ask your physician. If you are considered to be at risk for passing on a hereditary disease to your children, you can receive genetic counseling. A genetic counselor will ask you about your personal and family medical history. Blood tests may be necessary to help determine whether you are a carrier of a heritable disorder. You may be advised about the chances of transmitting hereditary illness to your offspring. If you are pregnant, the well-being of your fetus can be assessed by several procedures:
- Ultrasonography. High frequency sound waves are used to produce images of the placenta and fetus. It is a painless procedure and can detect gross defects, especially of the heart, bones, brain, and spinal cord.
- Amniocentesis. Many genetic diseases can now be diagnosed prenatally with the use of amniocentesis. A small amount of amniotic fluid, the liquid that bathes the baby in the uterus, is withdrawn and analyzed. Amniocentesis is usually performed between the fourteenth and eighteenth weeks of pregnancy.
- Chorionic Viilus Sampling [CVS]. This technique is still under investigation. A few fetal cells from the chorionic villus, a part of the placenta, are withdrawn and analyzed for the presence of a few select diseases. The advantage of CVS is that it can be performed earlier than amniocentesis. The disadvantage, currently the risks of infection and miscarriage after the procedure appear to be higher than for amniocentesis.
- Fetoscopy is a procedure wherein the fetus is directly observed within the uterus by use of special lenses. During fetoscopy fetal blood can be sampled. These procedures are currently performed only at a few medical centers for prenatal diagnosis of a limited number of serious diseases.
- Radiography. X-ray films are occasionally used because they can be helpful in detecting certain skeletal abnormalities.
Remember that the diseases described in this section are rare. Most expectant parents can look forward to the arrival of a healthy baby. If you are pregnant or hope to be and have any worries about the well-being of your future child, don’t hesitate to address them to your doctor.