As soon as a woman suspects she may be pregnant—or even before confirming the pregnancy—it is important to undergo a series of tests to evaluate her overall health. These assessments aim to identify any potential issues that could lead to complications during pregnancy or childbirth, allowing for early intervention and proper management.
Complete Blood Count, Iron and Ferritin Levels
It is very important to assess hemoglobin, iron, and ferritin levels to rule out iron-deficiency anemia. If these levels are low, appropriate steps must be taken to restore them to normal.
Blood Type and Rhesus Factor (Rh)
It is crucial for the attending physician to know your blood type, in case a blood transfusion is needed during pregnancy or delivery. Regarding the Rhesus factor, it’s important to determine if the mother is RhD-positive or RhD-negative. If the mother is RhD-negative and the father is RhD-positive, the baby is likely to be RhD-positive as well. In this case, the mother’s body may produce antibodies that attack the baby’s red blood cells.
Screening for Thalassemia and Sickle Cell Anemia
This is one of the most important screenings for a genetically inherited condition common in Mediterranean populations. It can have serious health implications for affected individuals. Ideally, this test should be done before conception or as soon as the pregnancy is confirmed.
Rubella Antibodies
Most women are immune to rubella, either through vaccination or past infection during childhood. If a pregnant woman is not immune, it is extremely important to avoid exposure to the virus. Contracting rubella during pregnancy significantly increases the risk of the baby developing serious heart, vision, or hearing problems.
Hepatitis B, Hepatitis C, and HIV Screening
Any woman may be a carrier of hepatitis without knowing it. In pregnancy, it is critical to detect it because if the virus is transmitted to the baby before or after birth, it can damage the baby’s liver.
All pregnant women should also be tested for HIV. If the result is positive, steps must be taken to minimize the risk of transmission to the baby during pregnancy or after birth.
Toxoplasmosis Testing
Toxoplasmosis is a parasitic infection that a pregnant woman can contract from cat feces, soil, raw meat, or unpasteurized dairy. If a woman is not immune and becomes infected during pregnancy, it may lead to miscarriage, fetal abnormalities, or stillbirth. For this reason, toxoplasmosis screening is especially important.
Blood Sugar Testing
Blood sugar should be measured early in pregnancy, and a glucose tolerance test (also known as the glucose curve) should be done in the second trimester to prevent and diagnose gestational diabetes in time.
Nuchal Translucency Scan
This is perhaps the most important ultrasound exam during the first trimester, as it provides crucial information about the fetus and the pregnancy. Its goal is the early detection of certain conditions and chromosomal abnormalities such as Down syndrome, Patau syndrome, and Edwards syndrome.
The scan measures markers such as the nuchal translucency and nasal bone of the fetus, combined with biochemical tests on the mother’s blood (β-hCG, PAPP-A, and PGF), maternal age, and weight. These results are used to calculate the statistical probability that the fetus may have Down syndrome or other chromosomal abnormalities.
Chorionic Villus Sampling (CVS)
This is an invasive diagnostic test performed early in pregnancy (between the 10th and 12th weeks) to detect genetic disorders such as cystic fibrosis and thalassemia, as well as chromosomal abnormalities like Down syndrome. It involves collecting a sample of chorionic villi from the placenta for DNA, chromosome, and enzyme analysis of the fetus.
Indications for CVS include:
- Increased risk of chromosomal abnormalities based on the nuchal translucency scan,
- History of chromosomal abnormalities in a previous pregnancy,
- Family history of a genetic disorder such as cystic fibrosis.
Amniocentesis
This test is recommended for the same reasons as CVS but is performed later in pregnancy, after the 15th week. It involves collecting a sample of amniotic fluid, which contains fetal cells and other substances, for further analysis.
Non-Invasive Prenatal Testing (NIPT)
Pregnant women who are at high risk for chromosomal abnormalities now have the opportunity to screen for these abnormalities through a highly advanced, non-invasive genetic test.
Fetal DNA — the genetic material of the fetus — can be detected in the mother’s blood as early as the 5th week of pregnancy. Its concentration increases in the following weeks and disappears after childbirth. By the 9th week of pregnancy, the amount of fetal DNA present is sufficient to ensure the high specificity and sensitivity of the test.
One of the most important advantages of this test, apart from being non-invasive, is that the likelihood of a false positive or false negative result is extremely low. This level of accuracy is of critical importance for the expectant mother.