Every couple planning a child dreams of the birth of a healthy baby. Modern medicine provides a unique opportunity to peek into the future and assess potential risks even before or in the early stages of pregnancy. Genetic screenings are not about searching for problems, but about gaining knowledge. They allow parents to make informed decisions, prepare for possible challenges, and do everything possible for their child's health.
What are genetic risks?
A genetic risk is the probability of passing a hereditary disease to a child or the occurrence of a new, spontaneous genetic anomaly in them. We all carry several "broken" genes, but most of them never manifest. Problems can arise if:
- Both parents are carriers of the same recessive gene. In this case, the risk of having an affected child is 25%.
- A random error occurs during the formation of gametes or in the early stages of embryo development.
The most common risks are chromosomal abnormalities such as Down syndrome, Edwards syndrome, and Patau syndrome.
When should you consider a genetic consultation?
Genetic counseling is recommended for all couples at the pre-pregnancy planning stage, but it is especially important if:
- The prospective mother's age is 35 years or older. With age, the risk of chromosomal abnormalities in the fetus increases significantly. More details in the article "Age and Fertility".
- There are cases of hereditary diseases in your family or your partner's family.
- You have had previous pregnancies with genetic pathologies or early‑term miscarriages.
Pre‑pregnancy (preconception) screenings
This is an ideal time to assess risks, as it provides the most time for decision‑making.
- Carrier screening. This is a blood test for parents that determines whether they are hidden carriers of genes for the most common hereditary diseases (e.g., cystic fibrosis, spinal muscular atrophy). If carrier status is found in both, a geneticist will discuss possible courses of action. This screening is part of a comprehensive pre‑gravid consultation.
Screenings DURING pregnancy (prenatal)
These are standard examinations that all pregnant women in Ukraine undergo. It is important to remember: **screening does not provide a diagnosis, it only assesses probability (risk)**.
1. Combined screening of the first trimester (11‑13 weeks)
This is a comprehensive test consisting of two parts:
- Ultrasound: The doctor measures the nuchal translucency (NT) in the fetus and other important markers.
- Maternal blood test: The levels of two hormones — PAPP-A and β‑hCG — are measured.
The ultrasound and blood test data, together with the mother's age, are entered into a specialized program that calculates the individual risk of chromosomal abnormalities. More details can be found in our section on screenings.
2. Non‑invasive prenatal test (NIPT)
This is a more modern and accurate screening method that can be performed from the 10th week of pregnancy.
- How it works: Blood is drawn from the mother’s vein, from which fetal DNA is extracted. This allows the risk of the most common chromosomal pathologies to be assessed with high accuracy (99%).
If screening shows high risk: diagnostics
If the screening results indicate a high probability of a pathology, the doctor may propose invasive diagnostic procedures. Only they can confirm or rule out a diagnosis with 100% accuracy.
- Chorionic villus sampling (at 11‑14 weeks).
- Amniocentesis (after 16 weeks).
The decision to undergo these procedures is always voluntary and is made by the woman after a detailed consultation with the doctor about all benefits and risks.
Genetic screenings are a powerful tool of modern medicine that provides future parents with the most valuable resource — information. This allows them to approach pregnancy and parenthood as fully prepared and consciously.
