Pregnancy Health: How Your Doctor Will Detect And Lower The Risk Of Birth Defects

Discussion of the types causes and effects of birth defects along with their prevention before and during pregnancy and the detection of such defects

The fact that their unborn baby has a birth defect is a harsh reality for approximately one in every twenty-five expectant parents. Birth defects fall into categories that relate the cause and/or the effect of the defect. Structural defects are ones in which the baby has an absent or malformed part if his/her body. Included in this category are an abnormal heart, spine, urinary or genital anatomy. Spina Bifida causes the infant to be born with an open backbone and a spinal cord that is malformed. Heart defects are the most prevalent defects in this category and the leading cause of infant deaths that result from birth defects but the mortality rate from defective heats has decreased in infants as medical advances have provided treatment for the defects. The cause of heart defects in unborn babies is unknown but suspected to be related to genetic and environmental causes. Spina Bifida is thought to be caused by genetics and nutrition. Sixty to seventy percent of birth defects are of unknown cause.

Metabolic defects are such disorders as Tay-Sachs and PKU. Such disorders have no outwardly visible signs but can have the potential to be very harmful or fatal to the infant. Metabolic defects are generally caused by genetics. Another category of birth defects are those caused by infections that the mother has during her pregnancy. Infections such as German measles (Rubella), cytomegalovirus and infections acquired by sexual contact fall in this category. Other causes of birth defects include but are not limited to: RH disease that results from incompatibility of the blood between the mother and her unborn baby and fetal alcohol syndrome that results from the excessive intake of alcohol by the expectant mother. Birth defects can result in very minor defects in children to mental retardation and very serious and some times fatal complications.

Detecting the risk of having a child with birth defects can be done through genetic counseling. Genetic counseling involves in-depth study of family history as well as the study of the DNA and chromosomes of the prospective parents. Birth defect detection after conception can be done in a number of ways. One diagnostic exam is the Maternal serum multiple marker test. This is a voluntary test. It done by a blood draw from the women between the fifteenth and twenty-first week of her pregnancy. This blood test can indicate a need for further testing but does not diagnose such things as Down's syndrome and Neural Tube defects. Neural Tube defects are such things as Spina Bifida and a disorder known as Anencephaly where the infant's skull is not complete, as well as other potential problems. If these defects are suspected, then further testing is needed to confirm the diagnosis. These tests usually include: ultrasound and amniocentesis.


Ultrasound is a diagnostic exam that can be done by use sound waves to view the fetus while in the uterus. Birth defects that are structural in nature can be determined this way. Amniocentesis involves the withdrawal of amniotic fluid surrounding the fetus and is useful in detection of genetic defects such as Down's syndrome. Some defects that are detected during pregnancy can allow for therapy to lessen the effects of the defect. Treating birth defects before birth is an area of medical practice that is likely to advance greatly in the coming years and already has made great strides. One example is that if a child is diagnosed with the genetic disorder PKU shortly after birth, a special diet can prevent the child from having mental retardation. Most cases are detected shortly after birth as a routine screening is done on infants shortly after birth by way of a blood test.

There are things that women can do to minimize the risk of birth defects in her unborn children, even prior to becoming pregnant. Because most defects begin in the first twelve weeks of pregnancy, some of which time the mother is unaware that she is pregnant, women attempting pregnancy should avoid alcohol, smoking and illegal drug use. She should see a physician as soon as possible when pregnancy is suspected and discuss the benefits and risks of continuing any prescription drugs and then continue with all scheduled visits with her physician. Taking Folic Acid (400 milligrams) in a pre-pregnant state, keeping all vaccinations up-dated, being knowledgeable of environmental factors to avoid while pregnant, limiting caffeine and eating a healthy diet excluding all undercooked or uncooked (raw) meat are all things a women can do prior to or during pregnancy to improve the chances of delivering a healthy baby.

There are things that women might want to consider before deciding to attempt pregnancy. After the age of 35, a woman is considering to have a higher risk for miscarriage as well as children being born with genetic defects. Having chronic conditions such as being diabetic and having epilepsy do not necessarily put a mother at an added risk for a child with birth defects but there are certainly medical considerations to discuss with the physician prior to and monitor during the pregnancy. Some of these considerations are: maintaining blood sugars, the effect of medications on the fetus, needed by the expectant mother to control the chronic conditions and the possibility of passing the condition on to the unborn child. African-American women should ask to be tested to determine if they are a carrier of sickle cell anemia.

Pregnancy can be a joyous time but can also be a time of anxiety. With modern medical advances and education, the prevention/detection of and early intervention to treat birth defects can result in fewer children suffering from the effects of birth defects and make pregnancy a more worry-free time.

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