What prenatal tests are conducted in the first trimester of pregnancy?
Pregnancy is an intense time in a woman's life: regular doctor's visits, blood tests, urine tests, as well as ultrasound and prenatal diagnostics are all part of the routine. Because the most important organs, such as the brain and the heart, are forming in the first trimester, it is crucial to monitor the baby's development continuously. Early detection of genetic abnormalities is particularly important for the future of the entire family.
Once your pregnancy test shows two lines, your gynecologist or midwife confirms the pregnancy and prescribes a series of tests: blood morphology, urine analysis, thyroid diagnostics (TSH), fasting venous blood glucose test, and tests for infections such as toxoplasmosis, syphilis, rubella, HCV, and HIV.
During this stage, non-invasive prenatal tests play an essential role in assessing whether the fetus is developing correctly. These tests are performed using a sample of the mother's blood, similar to a blood morphology test.
When should prenatal tests be done in the first trimester?
Monitoring the pregnancy allows for the early detection of any abnormalities and provides specialized medical care for both the mother and the child. If the result is abnormal, it gives you time and awareness of the new life situation. Some non-invasive prenatal tests can be performed as early as the 10th week of pregnancy, especially for women who:
Are over 35 years old,
Have previously given birth to a child with a developmental or genetic defect,
Have a family history of genetic diseases in their or their partner's family,
Have had abnormal results in prenatal ultrasound indicating a high risk of neural tube defect or genetic abnormality.
What prenatal tests are conducted in the first trimester of pregnancy?
Did you know that prenatal tests include abdominal ultrasound, which is routinely performed for every expectant mother? This examination checks if the pregnancy is progressing normally, assesses nuchal translucency, crown-rump length, fetal heart activity, and the presence of the nasal bone. Between the 11th and 14th week of pregnancy, mandatory tests also include biochemical blood tests and the PAPP-A test, measuring the levels of free β-hCG and protein A synthesized by the placenta. At this stage, up to 90% of abnormalities can be detected, and if this happens, remember that it doesn't necessarily indicate a definitive problem. Your gynecologist will recommend further diagnostics and more detailed genetic tests.
Among the most frequently performed non-invasive prenatal tests are Veracity, VERAGENE, Panorama, and NIFTY, modern tests utilizing next-generation sequencing. Importantly, they can assess the risk of genetic defects with 99% effectiveness and accuracy. They are safe for the baby. All you need to do is visit a laboratory for a blood sample (for the VERAGENE test, a swab from the inner cheek of the father is also required), and that's enough to analyze the genetic material for potential disorders. These tests can be done at any time of the day, do not require fasting, and do not need a referral, making the process much more convenient.
What can prenatal tests detect in the first trimester of pregnancy?
Genetic mutations detected by non-invasive prenatal tests include:
Aneuploidies, causing moderate to severe intellectual disability and a set of genetic defects that can lead to early childhood death. This category includes Down syndrome (trisomy 21), Edwards syndrome (trisomy 18), and Patau syndrome (trisomy 13).
Microdeletions, causing mild to severe congenital defects, abnormal development of the nervous system, and consequently, intellectual disability (e.g., DiGeorge syndrome).
Point mutations, which are abnormalities within a single gene, resulting in conditions such as cystic fibrosis and phenylketonuria. Single-gene disorders can cause intellectual, sensory disabilities, and mobility issues.
Non-invasive prenatal tests also allow for determining the fetus's gender in the first trimester of pregnancy, unlike ultrasound, which provides such information only around the 20th week of pregnancy, although not with 100% certainty.