Carrier screening is a simple genetic blood test that tells you and your partner whether you carry a gene for certain inherited conditions. It is usually done before pregnancy — that is when it gives you the widest range of options and the most time to decide — but it can also be done during pregnancy.
Why it matters when both parents are perfectly healthy
Conditions such as spinal muscular atrophy (SMA) and cystic fibrosis are recessive. A carrier has one changed copy of the gene and one normal copy, has no symptoms, and usually has no family history at all. If both partners carry a gene for the same condition, there is a 25% chance in every pregnancy that the baby is affected, and a 50% chance the baby is a healthy carrier. That is why carrier screening finds a risk that a family history would never reveal.
What international guidance says
The American College of Obstetricians and Gynecologists (ACOG) states that carrier screening for cystic fibrosis, spinal muscular atrophy and haemoglobin disorders is offered to everyone who is thinking about getting pregnant or is already pregnant, and that testing before pregnancy gives a greater range of options and more time to make decisions. Screening is always offered, never imposed — it is your choice.
The panels we offer
- SMA carrier test — spinal muscular atrophy (SMN1/SMN2, MLPA method).
- Cystic fibrosis carrier test — the CFTR gene.
- Genoks TATA Mini — SMA + cystic fibrosis in one panel.
- Genoks TATA MiniX — SMA + cystic fibrosis + fragile X syndrome + Duchenne muscular dystrophy (DMD).
The tests are run in a laboratory licensed by the Turkish Ministry of Health. A routine EDTA blood sample of 2–4 ml is enough — no fasting, no preparation. Reports take about 4 weeks for SMA, fragile X and DMD, and 4–6 weeks for cystic fibrosis, which is one more reason to test before you start trying. All tests are performed after a signed consent and data-protection (KVKK) form.
Who is tested first
Usually the partner more likely to be a carrier is tested first. If that result is negative, the other partner does not need testing. If it is positive, the other partner is tested so the risk for the pregnancy can be worked out. Each condition needs to be screened only once in a lifetime — the result does not change and does not have to be repeated in a later pregnancy.
How this differs from NIPT
Carrier screening tests the parents, ideally before conception, for inherited single-gene conditions. NIPT tests the baby during pregnancy, from a maternal blood sample, for chromosomal conditions such as Down syndrome. They answer different questions and one does not replace the other.
If you are both carriers
Being carriers is not a dead end, and it is not a verdict on your pregnancy. Your options are discussed with you unhurriedly and include prenatal diagnosis during pregnancy (chorionic villus sampling or amniocentesis) and preimplantation genetic testing (PGT-M) with IVF, which examines embryos before transfer. Our team explains each route, including its limits, before you decide anything.
Prices
- SMA carrier test — €150 — SMN1/SMN2, MLPA
- Cystic fibrosis carrier test — €180 — CFTR gene
- Genoks TATA Mini — €270 — SMA + cystic fibrosis
- Genoks TATA MiniX — €310 — SMA + cystic fibrosis + fragile X + DMD
Prices are per person tested. Our medical prices are fixed; your exact, all-inclusive price is confirmed in writing after your consultation. See our full price list →
Contact UCARER Women’s Health to arrange carrier screening with Assist. Prof. Dr. Muzaffer Uçarer.