What is genetic testing or carrier screening
Genetic testing before pregnancy
It is totally a personal decision whether you want to test your blood or not. Most often, pre pregnancy genetic testing is compulsory for some couples. It may be performed on you and your sex partner before pregnancy in case you want to know if both you and your partner are carriers. Most of the time, doctors suggest to perform genetic testing on a woman and if she is a carrier then it needs to be done on male as well. You and your partner should make discussion with the genetic counselor regarding your family background and ethnicity in order to take help to make informed decision and to examine that which tests you should take.
Genetic testing during pregnancy
It is a test that is performed after 16 to 18 weeks after you get pregnant. To perform this test in pregnant women, the doctor use a hollow needle for inserting it into the abdomen of a women to get a little quantity of the amniotic fluid present in the developing fetus. The doctor then performs testing of this fluid to determine if you have genetic problem and se of your coming baby. Amniocentesis test may also be performed if there is a risk of premature birth and this test can help to determine the maturity of your baby’s lungs. Moreover, this test also carries a little bit risk of causing a miscarriage.
- Chorionic villus sampling (CVS)
CVS is normally performed after 10 to 12 weeks of your pregnancy. In this test, the doctor takes a little piece of placenta for determining the genetic problems inside the fetus. CVS test is an invasive test so it also takes small risk to induce a miscarriage.
Most common genetic diseases
- Cystic fibrosis
It is a condition of your body when the lungs damage and you experience digestive problems. It is a life threatening disease and in United State, there are almost 30,000 people who are facing with this disease. Many medical health care suggest to take genetic testing for all adults.
- Sickle cell disease
It is the most common disease in African and who have Mediterranean backgrounds. This disease causes blood disorder and as a result patients may face a weakened immune system, anemia and some other complications of health.
This disease also causes blood disorder and as a result you may experience liver problems, anemia and problems in growth of bones. If the disease is more severe and you are also pregnant, then there are more chances that your new baby in this condition will not survive.
- Fragile X Syndrome
It is very harmful disease that stops the development of your internal body system and causes several development problems such as mental retardation and disabilities of learning. By examining the health history of your family, the doctor takes decision, whether he should pass you from Fragile X or not.
First trimester screening
It is the combination of both maternal blood test and fetal ultrasound performed in the first trimester of your partner pregnancy. it is a screening process that can help you to determine if there is a chance of having defects in your baby at the time of delivery. It is the best procedure for checking the certain birth defects. The process involves three parts:
- Ultrasound test for fetal nuchal translucency (NT) is used to check the area of fetal neck to increase fluid.
- Two maternal serum (blood) tests to measure 2 substances present in blood of all women who are pregnant. These tests include: pregnancy-associated plasma protein screening (PAPP-A) and human chorionic gonadotropin (hCG).