Show Birth defects can be diagnosed during pregnancy or after the baby is born, depending on the specific type of birth defect. During Pregnancy: Prenatal TestingScreening TestsA screening test is a procedure or test that is done to see if a woman or her baby might have certain problems. A screening test does not provide a specific diagnosis—that requires a diagnostic test (see below). A screening test can sometimes give an abnormal result even when there is nothing wrong with the mother or her baby. Less often, a screening test result can be normal and miss a problem that does exist. During pregnancy, women are usually offered these screening tests to check for birth defects or other problems for the woman or her baby. Talk to your doctor about any concerns you have about prenatal testing. First Trimester ScreeningFirst trimester screening is a combination of tests completed between weeks 11 and 13 of pregnancy. It is used to look for certain birth defects related to the baby’s heart or chromosomal disorders, such as Down syndrome. This screen includes a maternal blood test and an ultrasound.
Second Trimester ScreeningSecond trimester screening tests are completed between weeks 15 and 20 of pregnancy. They are used to look for certain birth defects in the baby. Second trimester screening tests include a maternal serum screen and a comprehensive ultrasound evaluation of the baby looking for the presence of structural anomalies (also known as an anomaly ultrasound).
Diagnostic TestsIf the result of a screening test is abnormal, doctors usually offer further diagnostic tests to determine if birth defects or other possible problems with the baby are present. These diagnostic tests are also offered to women with higher risk pregnancies, which may include women who are 35 years of age or older; women who have had a previous pregnancy affected by a birth defect; women who have chronic diseases such as lupus, high blood pressure, diabetes, or epilepsy; or women who use certain medications. High resolution UltrasoundAn ultrasound creates pictures of the baby. This ultrasound, also known as a level II ultrasound, is used to look in more detail for possible birth defects or other problems with the baby that were suggested in the previous screening tests. It is usually completed between weeks 18 and 22 of pregnancy. Chorionic Villus Sampling (CVS)CVS is a test where the doctor collects a tiny piece of the placenta, called chorionic villus, which is then tested to check for chromosomal or genetic disorders in the baby. Generally, a CVS test is offered to women who received an abnormal result on a first trimester screening test or to women who could be at higher risk. It is completed between 10 and 12 weeks of pregnancy, earlier than an amniocentesis. AmniocentesisAn amniocentesis is test where the doctor collects a small amount of amniotic fluid from the area surrounding the baby. The fluid is then tested to measure the baby’s protein levels, which might indicate certain birth defects. Cells in the amniotic fluid can be tested for chromosomal disorders, such as Down syndrome, and genetic problems, such as cystic fibrosis or Tay-Sachs disease. Generally, an amniocentesis is offered to women who received an abnormal result on a screening test or to women who might be at higher risk. It is completed between 15 and 18 weeks of pregnancy. Below are some of the proteins for which an amniocentesis tests.
After the Baby is BornCertain birth defects might not be diagnosed until after the baby is born. Sometimes, the birth defect is immediately seen at birth. For other birth defects including some heart defects, the birth defect might not be diagnosed until later in life. When there is a health problem with a child, the primary care provider might look for birth defects by taking a medical and family history, doing a physical exam, and sometimes recommending further tests. If a diagnosis cannot be made after the exam, the primary care provider might refer the child to a specialist in birth defects and genetics. A clinical geneticist is a doctor with special training to evaluate patients who may have genetic conditions or birth defects. Even if a child sees a specialist, an exact diagnosis might not be reached. What genetic disorders can be detected during pregnancy?The cell-free DNA in a sample of a woman's blood can be screened for Down syndrome, Patau syndrome (trisomy 13), Edwards syndrome, and problems with the number of sex chromosomes. This test can be done starting at 10 weeks of pregnancy.
What can be diagnosed through genetic testing?What Can Genetic Testing Find?. cystic fibrosis.. Tay-Sachs disease.. sickle cell disease.. Down syndrome.. spina bifida.. Turner syndrome.. von Willebrand Disease.. albinism.. |