Q: What tests are done during pregnancy? A: All women are recommended to have a series of tests during their preconception care. Some tests use your blood and urine and cells from your cervix and vagina. You will also need to be tested for infectious diseases, such as sexually transmitted diseases (STDs). These results are used to test for possible problems with you and your baby. If problems are found, many of them can be dealt with during pregnancy. If you and your baby have some kind of problem, there are tests that need to be done. These are called screening tests. They are offered based on your age, medical history or ethnic background. Other tests are used to detect other possible problems during your pregnancy. These are called diagnostic tests. Tests are offered based on your medical history, family history and ethnic background or the results of other tests. Q: What blood tests can be done during pregnancy? A: Depending on the following blood tests Blood type and antibody screening DD your blood type may be A, B, AB or O. It may be Rh-positive or Rh-negative (see FAQ: Rh Factor: How it affects your pregnancy). Hematocrit and hemoglobin DD check these two substances to test for anemia. Rubella DD to test if your blood has ever been infected with the rubella virus. Hepatitis B virus (see AFQ: Pregnancy and Hepatitis B virus) Syphilis (see AFQ: Gonorrhea, Chlamydia and Syphilis) Human Immunodeficiency Virus (HIV) (see FAQ HIV and Pregnancy) Glucose DD test your blood glucose levels to detect if you have diabetes (see FAQ Pregnancy and Diabetes). Cystic Fibrosis carrier test. Q : Why is my urine tested? A : Routine urine tests are done at every prenatal visit. To test your urine sugar and urine protein levels. Although it is common to have positive urine sugar when you are pregnant. However, high levels of urine sugar may indicate diabetes. Urine protein may represent a urinary tract infection or kidney disease. In late pregnancy, it may be a sign of pre-eclampsia. If these problems occur, they need to be addressed. Q: What tests are available to screen for newborn defects? A: Screening tests can be done in early pregnancy, mid-trimester or early and mid-trimester (joint consideration of screening results in early and mid-trimester). Optional genetic carrier testing can be performed before and during pregnancy. Genetic carrier testing is a test to detect that one or both parents are carriers of a genetic disorder. All pregnant women can be tested for carriers of cystic fibrosis. Other genetic carrier tests are recommended for certain ethnicities and for pregnant women with certain familial genetic disorders. Q: What tests are available to screen for newborn defects in early pregnancy? A : Early pregnancy screening tests are hematology tests and ultrasound examinations performed from 11-14 weeks of pregnancy to check for defects in the baby. These screenings are used to assess the risk of Down syndrome and trisomy 18. These screenings can be used as a stand-alone combined test or as part of the next step-by-step screening. Ultrasound, also called cervical zona pellucida screening, is used to measure the thickness of the skin at the back of the neck. A thickened nuchal translucency is characteristic of Down’s syndrome, trisomy 18 or other problems. The blood test checks the mother’s blood for levels of two substances, pregnancy-related protein A and human chorionic gonadotropin. Elevated levels of these two proteins may be characteristic of Down syndrome. Q: What tests are available to screen for newborn defects in midtrimester? A: In mid-pregnancy, a test called the “combined multi-marker screen” is used to screen for Down syndrome, trisomy 18 and neural tube defects. This test is used to monitor levels of three or four substances in your blood: alpha-fetoprotein (AFP) DD is produced by the growing embryo. It is usually found in the amniotic fluid, fetal blood. It is also found in small amounts in the mother’s blood. Estriol: Hormone produced by the placenta and the liver of the fetus. Human chorionic gonadotropin. A hormone that inhibits the production of the protein ADD placenta. Testing for the first three substances is called triple screening. If all four substances are tested, it is called quadruple screening, (see FAQ: Birth Defect Screening) Q: What tests can I offer if I am at risk of carrying a fetus with a defect? A: If the results of the screening test indicate a high risk of delivering a baby with a birth defect, the following diagnostic tests are required: Amniocentesis DD to obtain a small amount of amniotic fluid and cell testing around the embryo from the gestational sac, this test is usually done in mid-trimester. Chorionic villus biopsy (CVS) DD to obtain a small sample of cells from the placenta for testing, usually done in early pregnancy. Ultrasound DD This is an ultrasound that carefully examines the organs and features of the fetus. Both amniocentesis and chorionic villus biopsy carry the risk of causing a low probability of miscarriage. Your doctor will explain this risk to you. Terminology Amniotic fluid: fluid surrounding the fetus in the amniotic cavity of the uterus. Anemia: A lower than normal number of red blood cells in the blood. Carrier of genetic information: A person who does not show symptoms of a disease but carries the gene and can pass it on to the next generation. Cervical: a narrow end of the uterus that is low and protrudes into the vagina Diabetes: a condition in which blood sugar levels are very high Down syndrome: a birth defect-like disorder caused by chromosomal abnormalities: abnormal intellectual development, abnormal features on the face and body, physical problems such as a heart defect Glucose: sugar in the blood, the main source of energy for the body Neural tube defects (NTDS): birth defects caused by incomplete development of the brain, spinal canal or the covering over it. Placenta: a tissue that supplies oxygen and nutrients to the fetus and expels fetal waste. Pre-eclampsia: a state of pregnancy characterized by high blood pressure and urinary protein Sexually transmitted diseases: diseases transmitted through sexual intercourse Syphilis: a chronic, systemic sexually transmitted disease caused by Helicobacter pallidum; advanced syphilis can lead to death Trimester of pregnancy: divides pregnancy into early, middle, and late trimesters, each three months Trisomy 18: A serious disorder caused by chromosomal abnormalities; most babies with trisomy 18 die within one year of age. Ultrasound screening: Careful examination of fetal organs and structures with ultrasound during pregnancy.