Prenatal Screening

Dr. Panagiotis Polyzos MD PhD MSc

Obstetrician Gynaecologist
Doctor of Medicine, University of Athens Medical School

Panagiotis Polyzos, Gynaecologist Obstetrician, is active at the Institute of Life - IVF Unit of Iaso Maternity Hospital.

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Prenatal Screening

What is prenatal screening?

Prenatal screening consists of a series of tests designed to ensure the good health of both the mother and the baby. Many women believe it only refers to blood tests performed early in pregnancy to assess the mother’s health and her ability to safely carry the pregnancy to term. While these tests are indeed very important, equally essential are those that focus on the fetus, carried out through biochemical analyses and ultrasound imaging throughout the course of the pregnancy.

When should a woman undergo prenatal screening? Why is it important?

It begins with a positive pregnancy test — or even before a couple starts trying to conceive — and continues throughout the entire pregnancy.

Prenatal screening plays a pivotal role in pregnancy. Firstly, the expectant mother undergoes basic testing for certain conditions that can and should be treated in advance. Additionally, issues may arise during pregnancy that could pose risks to the health of both the fetus and the mother, many of which can be effectively managed when detected early. In every case, prenatal screening provides the mother with valuable information about her baby’s condition before birth — always within the limits of what can be determined.

Prenatal Screening: Medical History

Absolutely — and it is highly important. Certain conditions are taken into consideration that require special care, such as:

  • When the woman is of “advanced” maternal age
  • Abnormal ultrasound findings in a previous pregnancy (e.g., increased nuchal translucency, congenital heart defects, intrauterine growth restriction (IUGR), cleft lip, cleft palate, etc.)
  • Family history of chromosomal abnormalities
  • Previous pregnancy with abnormal karyotype findings in the fetus
  • Three or more consecutive miscarriages
  • A parent who is a carrier of a balanced chromosomal translocation or another chromosomal abnormality
  • High-risk family history for a monogenic disorder detectable through biochemical testing / DNA analysis
  • High-risk family history for neural tube defects
  • Multiple congenital anomalies
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What tests are included in prenatal screening?

The complete set of examinations includes:

Blood and urine tests

  • Complete blood count (CBC)
  • Blood type – Rhesus factor
  • Blood glucose – Glycated hemoglobin (HbA1c)
  • Urea – Creatinine – Uric acid
  • Hemoglobin electrophoresis – Sickle cell test
  • Hepatitis B surface antigen (HbsAg))
  • Hepatitis C antibodies
  • HIV I & II
  • Rubella IgG-IgM antibodies
  • Chickenpox IgG-IgM antibodies
  • Toxoplasmosis antibodies IgG – IgM
  • Cytomegalovirus (CMV) antibodies IgG – IgM
  • Listeria screening
  • Urinalysis
  • Syphilis screening (VDRL)
  • Thyroid hormones (TSH, FT3, FT4)
  • G6PD deficiency test
  • Cystic Fibrosis (CFTR) gene testing

 

Gynecological examinations

  • Pap test
  • Vaginal culture and testing for mycoplasma, ureaplasma, chlamydia
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Cardiology examination

Pregnancy ultrasounds

  • Early pregnancy ultrasound (6–11 weeks): confirms pregnancy
  • Nuchal translucency scan & PAPP-A (11–14 weeks): checks fetal anatomy and the thickness of the fluid behind the fetal neck
  • Detailed Second-Trimester Anatomy Scan (20–24 weeks): detailed assessment of fetal anatomy
  • Growth Scan – Doppler (24–40 weeks): monitors fetal growth and placental function
  • Biophysical profile (Ultrasound & NST/Cardiotocography): evaluates uterine environment and fetal heart rate.

 

Invasive diagnostic tests

  • Amniocentesis
  • Chorionic Villus Sampling (CVS)

 

Both procedures allow chromosomal testing of the fetus, and depending on the condition being investigated, may include genetic and enzymatic analysis.

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What is the procedure for invasive tests?

Amniocentesis is the oldest method of obtaining fetal cells. The test is performed after the 16th week of pregnancy and up until the end of gestation, though more commonly up to the 22nd week. The amniotic fluid is collected using a fine needle inserted through the mother’s abdomen under continuous ultrasound guidance. The entire procedure is almost painless and completed within seconds. There is a small yet measurable risk of miscarriage, while the risk of injury to the fetus — as well as to the mother — is essentially negligible.

Chorionic Villus Sampling (CVS) is performed from the 12th week of pregnancy onwards, also under continuous ultrasound monitoring and using a very fine needle. Both amniocentesis and CVS carry the same risk of miscarriage. The advantage of CVS is that it can be carried out earlier than amniocentesis; however, its drawback is that it is not always feasible due to anatomical factors (such as uterine position, placental location, or maternal body habitus).

There is now also Non Invasive Prenatal Testing / Screening (NIPT/NIPS). This method analyzes fetal DNA circulating in the mother’s bloodstream to determine — with high accuracy — the risk of the fetus having Down syndrome (Trisomy 21), Edwards syndrome (Trisomy 18), Patau syndrome (Trisomy 13), and numerical abnormalities of the sex chromosomes (X and Y). The test is performed through a simple maternal blood draw. The sample is sent to a specialized laboratory in the United States. NIPT is performed in singleton pregnancies beyond 9 weeks and carries no miscarriage risk.

Are the diagnoses from invasive tests completely accurate?

In almost all cases where the diagnosis is made by a certified laboratory, the baby will be born healthy. However, certain syndromes caused by microdeletions (e.g., Williams syndrome, Prader-Willi/Angelman syndrome, DiGeorge syndrome, etc.) are not visible under a microscope and can only be detected using specialized molecular methods such as MLPA and array-CGH. It is important to highlight that even with a normal result from the recommended prenatal testing, this should not be interpreted by parents as a guarantee that the baby will be free from all medical conditions. For example, a normal fetal karyotype ensures that the baby does not have congenital abnormalities caused by a chromosomal syndrome, but it does not rule out all possible genetic disorders or congenital anomalies of other origins.