Genetic Testing

Prenatal diagnostics has one goal: to give you peace of mind — and, where
needed, time to make good decisions. We provide it comprehensively, in line
with the recommendations of the Polish Society of Gynaecologists and
Obstetricians and the standards of the Fetal Medicine Foundation — from the
first-trimester screening, through modern genetic blood tests, to the
assessment of pregnancy-complication risk. We always begin with a
conversation, tailor the tests to your situation, and discuss the results with
you in person.

FMF combined test — the first and most important screen

This is the foundation of early diagnostics and usually where we start. We
perform it between weeks 11 and 13+6 — and some measurements
are only possible within this window, so it is worth not missing. The test
combines a detailed ultrasound with a blood test, and the risk of
abnormalities is calculated using the Fetal Medicine Foundation algorithm —
the same organisation whose standards are recommended by the Polish Society of
Gynaecologists and Obstetricians.

The FMF combined test and preeclampsia prediction are performed by our
physicians holding current prenatal-diagnostics certificates (FMF / PTGiP).
Risk is assessed in line with Fetal Medicine Foundation standards and the
recommendations of the Polish Society of Gynaecologists and Obstetricians.

During the ultrasound we assess the markers that tell us most about the risk
of chromosomal abnormalities: nuchal translucency (NT), the presence and
length of the nasal bone, blood flow in the ductus venosus and across the
tricuspid valve. To this we add the combined test from blood
— levels of PAPP-A and free beta-hCG. You can give the blood a few days
earlier, so that the risk result is ready at your ultrasound appointment.

The NT measurement alone detects Down syndrome in about 80% of cases. The full
combined test raises this sensitivity to 90–95%. Remember,
though: this is a risk estimate, not a diagnosis. We read the result together,
in three possible scenarios — low risk means calmly continuing the pregnancy,
intermediate risk we suggest deepening with cell-free fetal DNA testing, and
high risk we discuss in terms of confirmatory diagnostics.

Cell-free fetal DNA testing (cffDNA / NIPT)

These are tests that have transformed prenatal diagnostics in recent years. A
blood draw from the arm is enough — as with a routine blood count — and we
analyse the cell-free fetal DNA (cffDNA) circulating within it. It can be
performed from the 10th week of pregnancy, is completely safe
for you and your baby, and carries no risk of miscarriage.

The test assesses the risk of the most common trisomies — Down (21), Edwards
(18) and Patau (13) — and, in broader panels, changes in the sex chromosomes
and selected microdeletions, with sensitivity for trisomies exceeding 99%. The
reliability of the result depends on the so-called
fetal fraction — the proportion of the baby’s DNA in the
sample; if it is too low (as can happen very early in pregnancy), we will ask
for a repeat draw.

One thing worth remembering: cffDNA is still a
screening test, not a diagnostic one. An abnormal result is
confirmed with an invasive test, and nothing replaces ultrasound — some
abnormalities (e.g. of the heart or neural tube) do not stem from genetics and
are only visible on the ultrasound image.

Which test to choose? A comparison

We offer the full range of cffDNA tests — including for twin pregnancies. They
differ mainly in scope and turnaround time:

The exact scope of each variant and its suitability for twin pregnancies is
confirmed during consultation — we will match it to your expectations and
indications. FeliaTest parameters are stated according to laboratory data.

Preeclampsia prediction — before symptoms appear

Preeclampsia affects 2–5% of pregnancies and develops in the second half of
pregnancy. The good news is that women at increased risk can be identified
very early — and then
prophylactic aspirin started before week 16 significantly
reduces the risk of the early form of the disease. This is one of those
moments when early testing genuinely changes the course of a pregnancy.

We carry out the screening together with the first-trimester ultrasound, using
the FMF algorithm, which combines several elements: your history,
mean arterial pressure (MAP),
uterine artery blood flow assessed by Doppler, and blood
markers — PlGF and PAPP-A. In patients at increased risk we
introduce prophylaxis and monitor the pregnancy more closely.

If a suspicion of preeclampsia arises in the second or third trimester, we use
the sFlt-1/PlGF ratio — it helps confirm or rule out the
development of the disease in the near term and supports the right decisions.

Genetics for couples — when you are planning a child

• Genetic carrier screening

  GENESCREEN

  Checks whether you are both carriers of the same genetic conditions —
  analysing thousands of genes in each of you. If it turns out you are, you
  will know before pregnancy, and we will calmly discuss the available
  options. A test for couples who want to plan parenthood consciously.

• Fertility genetics

  FERTISCAN

  For couples trying to conceive for longer than they expected, while
  standard results look fine. It examines genes related to, among others,
  ovarian reserve, response to stimulation and embryo implantation — looking
  for answers where routine diagnostics does not provide them.

Inherited thrombophilia diagnostics

Thrombophilia is a genetic tendency to thrombosis — a particularly important
topic if thrombosis has occurred in your family, you have experienced
miscarriages, or you are planning or using hormonal contraception. The test is
simple and painless: we take a cheek swab, and the result helps plan
antithrombotic prophylaxis.

The standard panel covers mutations of Factor V Leiden, the prothrombin gene,
MTHFR, and the PAI-1 (SERPINE1) and V R2 variants.

When in-depth diagnostics is needed

If screening tests indicate a high risk, the next step is confirmatory
diagnostics — amniocentesis or chorionic villus sampling — providing a
definitive diagnosis based on the baby’s genetic material. We carry out such
procedures and specialist genetic assessment in cooperation with trusted
reference centres, so that at no stage are you left alone with the result.