Prenatal diagnosis
During pregnancy, it’s essential for every woman to undergo screenings and tests to monitor the baby’s development. Prenatal diagnosis is a comprehensive program of examinations designed to detect the risk of genetic abnormalities in the fetus early on.
When chromosomal structures deviate from the norm, this can lead to conditions such as Down syndrome, Edwards syndrome, Prader-Willi syndrome, and other inherited disorders. Through the analysis of biological samples (including placental tissue), prenatal diagnostics can also help detect congenital heart defects, central nervous system malformations, and more.
Purpose and Indications
Prenatal diagnostics can be done at the patient’s request or upon medical recommendation. For women over the age of 35, genetic screening is highly advised due to the increased risk of chromosomal abnormalities linked to hormonal changes.
Indications for prenatal screening include:
- Known genetic disorders in the family history of either parent
- Advanced maternal age or high-risk pregnancies
- Abnormal first-trimester screening results
- Pregnancy conceived through IVF
- Pregnancy following infertility treatment or miscarriage
- Paternal consanguinity (father is a close relative)
Types of Prenatal Diagnostic Methods
Non-invasive methods
These do not require any internal intervention. They include:
- Ultrasound (performed in the 1st, 2nd, and sometimes 3rd trimester) to evaluate fetal anatomy, nuchal translucency, and amniotic fluid levels
- Maternal blood tests measuring biochemical markers such as beta-hCG, alpha-fetoprotein (AFP), and estriol
- Risk assessments based on deviations from gestational medians (MoM scores)
Invasive methods
Performed in a clinical setting under strict supervision, these involve the collection of fetal biological material:
- Amniocentesis (amniotic fluid sampling)
- Chorionic villus sampling (CVS)
- Cordocentesis (fetal blood sampling from the umbilical cord)
These procedures may require anesthesia and are used when genetic pathology is suspected.
First Trimester Prenatal Screening (Week 10–13)
The first trimester screening aims to assess the risk of congenital abnormalities and chromosomal disorders:
- Ultrasound exam to evaluate:
- Nuchal translucency (NT)
- Structural development of organs and limbs
- Heart rate
- Placental location
- Amniotic fluid levels
- Blood test to measure:
- Beta-hCG (human chorionic gonadotropin)
- PAPP-A (pregnancy-associated plasma protein A)
Deviations in these values can indicate chromosomal anomalies such as trisomy 21 (Down syndrome) or others.
Second Trimester Prenatal Screening (Weeks 14–20)
Second trimester screening helps assess the risk of genetic disorders during weeks 14 to 20 of pregnancy. This comprehensive evaluation combines ultrasound and blood tests for a detailed assessment of fetal health.
Ultrasound Examination Includes:
- Measurement of the biparietal diameter of the fetal head
- Evaluation of organ structure and development
- Monitoring of fetal heartbeat
- Assessment of amniotic fluid levels
Maternal Blood Test Measures:
- hCG (human chorionic gonadotropin)
- Alpha-fetoprotein (AFP)
- Unconjugated estriol (uE3)
Elevated AFP levels may indicate a neural tube defect. A combination of low hCG and estriol, along with high AFP, may suggest intrauterine fetal demise.
Results are analyzed using the Astraia software, which factors in biochemical marker levels, maternal weight and age, as well as ultrasound data (crown-rump length or biparietal diameter). Based on these findings, your doctor may recommend further invasive diagnostic testing if a genetic abnormality is suspected.
Preparing for the Screening
Since this is a combined screening, you can do the blood test and ultrasound on the same day or separately.
- Blood test: Conducted in the morning on an empty stomach (no food for at least 4 hours).
- Ultrasound: Best done with a full bladder. Drink 500 ml of water one hour before your appointment. If you're having your ultrasound after your blood draw, empty your bladder afterward and drink water again about 2–3 hours before the scan.
Why Choose IPF for Prenatal Screening?
Once pregnancy is confirmed, expectant mothers begin searching for a clinic with accurate and reliable prenatal diagnostics. At IPF, we offer high-precision testing using advanced analysis tools to ensure correct interpretation of every detail.
With our on-site laboratory, your blood samples are processed promptly, and results are available the same or next day. Our specialists provide detailed ultrasound evaluations with clear explanations to help you feel informed and at ease.
Even if you are receiving prenatal care elsewhere, you can still complete your screening and consultation at IPF.
Book your prenatal screening today by filling out the form on our website or calling us directly.
Prenatal diagnosis
Як проходить лікування?
How is the treatment going?
Записатись на прийом
Make an appointment
Application has been successfully sent