Prenatal tests – everything you need to know about them!

Boy or girl, Italian blond or black, what eye color? Almost all parents-to-be ask themselves these questions. While waiting for a child, they are accompanied by joy, delight, fear and uncertainty. Is my baby okay? Nowadays, a number of disturbing questions for future parents can be answered already during pregnancy. Prenatal tests, both non-invasive and invasive, are helpful in this.

What is prenatal testing?

Prenatal testing is a type of testing performed during the intrauterine fetal development. They make it possible to detect most developmental defects or exclude them. Prenatal tests give a chance to start quick therapy and treatment in case of finding a specific defect. Modern medicine allows the treatment of many defects during pregnancy, e.g. some heart defects, or immediately after birth. This gives the child a much better chance of a healthy and normal life than if diagnosed after birth.

What are non-invasive prenatal tests?

Prenatal tests included in the non-invasive group are those that are based on an ultrasound examination, commonly known as USG, and blood tests. We include:

• traditional ultrasound examination is a completely safe examination for both the mother and the child, it lasts from 5 to 30 minutes and allows to detect a number of abnormalities in the development of the fetus. There are two types of this test: abdominal and vaginal. This examination allows to assess the shape, size and weight of individual parts of the body and organs of the fetus. It gives you the chance to get accurate information about the placenta, amniotic fluid, heart function and other organs.
• 3D, 4D, genetic ultrasound – enables three-dimensional reconstruction of the image of the baby and uterus in real time, which is an amazing experience for parents and gives the doctor a chance to collect cross-sectional photos. Ultrasound can be performed many times during pregnancy, but be careful not to overdo it. It is recommended at the beginning to confirm pregnancy and determine its age, then after 12 weeks to detect possible heart defects and in the last months for control.
• PAPP-A test – it is a biochemical test that determines the form of disorders in a child, it is safe, reimbursed and relatively cheap when we have to pay for the performance ourselves. It gives over 90% certainty of diagnosing or ruling out Down Syndrome. The test is performed between 10 and 14 weeks of pregnancy.
•  NIFTY test – it is quite an innovative test based on the mother’s blood, determining the probability of Down, Patau and Edwards syndrome. its sensitivity is much higher than the PAPP-A test and slightly lower than amniocentesis. The test can be performed from the 12th week of pregnancy.

What are invasive prenatal tests and are they safe?

Invasive prenatal testing requires invasive material collection for testing and therefore carries risks. This type of examination is performed when there is a risk of defects in the child. They give the opportunity to precisely determine the defect, but they are associated with risks ranging from pregnancy loss, bleeding, discharge of amniotic fluid or early contractions. The risk is about 1 to 2% of cases.

What type of invasive tests are most often performed?

• Amniocentesis — is a test performed between 13 and 19 weeks of pregnancy. It involves collecting the amniotic fluid from the fetal bladder with a needle. It helps to detect nervous system defects.
• Trophoblast biopsy i.e. chorionic villus – carried out between the 11th and 13th week of pregnancy, it consists in collecting the chorion through the abdomen as a result of a puncture or catheterically through the cervix. The test is performed when amniocentesis is not possible. It detects over 3000 different genetic disorders.
• Fetoscopy – is a very rarely performed examination that allows the fetus to be viewed through optical organs after prior incision of the mother’s abdomen. It gives the possibility of carrying out some procedures on the fetus in the mother’s womb. The test is carried out between 18 and 20 weeks of pregnancy.
• Cordocentesis – is a test involving the collection of umbilical cord blood and its analysis after the 18th week of pregnancy.

Prenatal tests give a chance to detect many developmental anomalies in a toddler. And this knowledge gives parents a chance to prepare and plan a specific type of treatment.