Prenatal testing

Prenatal testing involves diagnostic procedures carried out during pregnancy to detect congenital and genetic abnormalities in the foetus. It enables the early identification of abnormalities and the implementation of appropriate treatment. They are divided into non-invasive tests, such as ultrasound scans, maternal blood tests and NIPT (Non-Invasive Prenatal Testing), and invasive tests, such as amniocentesis. These screening tests are painless and safe for both mother and baby. They can detect conditions such as Down’s syndrome, Edwards’ syndrome or heart defects. Early diagnosis often allows treatment to begin whilst the baby is still in the womb. Find out more about the different types of prenatal tests and when to have them.

Highlights 

• Prenatal testing detects congenital and genetic abnormalities in the foetus, enabling early treatment even whilst the baby is still in the womb. 
• An NIPT test (from the 9th week of pregnancy), which analyses cell-free foetal DNA (cffDNA) present in the mother’s blood, enables the risk of genetic abnormalities to be assessed. 
• First trimester ultrasound (week 11-14) with PAPP-A test calculates the risk of Down's, Edwards' and Patau syndrome in one visit. 
• Pre-eclampsia affects 2–5% of pregnancies and poses a serious risk – the PREEK test enables the early diagnosis of this complication. 
• The 3D/4D scan (26-30 weeks) gives a spatial image of the foetus, and the 4D ultrasound allows real-time video of the baby to be recorded. 

What is prenatal screening?

Prenatal tests are tests carried out during pregnancy to help monitor the baby’s development before birth. They enable the doctor to assess, amongst other things, the baby’s physical structure, heart function, organ development and the risk of certain diseases or birth defects. Sometimes this allows parents to better prepare for the birth and for looking after their child, and in certain situations it also enables treatment to begin whilst the mother is still pregnant or immediately after the baby is born.

Types of antenatal tests 

Prenatal tests are divided into screening tests and non-invasive tests, which include ultrasound, the PAPP-A test, cell-free foetal DNA (cffDNA) tests, and invasive tests such as amniocentesis and chorionic villus sampling, which are carried out when more in-depth diagnosis is required.  

Prenatal ultrasound scans

Non-invasive prenatal tests primarily include ultrasound scans. These may be accompanied by biochemical tests of the mother’s blood, such as the PAPP-A test. In a normal pregnancy, prenatal ultrasound scans are carried out at three stages: in the first trimester, halfway through the pregnancy (known as the mid-pregnancy scan), and in the third trimester, before the birth.

During an ultrasound scan, the doctor assesses whether the pregnancy is progressing normally and evaluates the baby’s development and structure, including its brain, spine, heart and other organs. They also check for features that may indicate an increased risk of certain genetic abnormalities, such as Down’s syndrome.

Prenatal ultrasound scans are carried out by Kajetan Piątkowski of Invimed Gdynia.

Non-invasive prenatal testing (NIPT) 

For several years now, a new generation of screening tests known as NIPT (Non-invasive Prenatal Testing) has been available on the prenatal testing market; these tests enable the risk of genetic abnormalities and congenital defects in the unborn child to be assessed.  

During pregnancy, fragments of the baby’s cell-free DNA (cffDNA) circulate in the mother’s blood. These originate from the placenta and are the result of natural processes taking place in the body. All that is needed is a blood sample from the mother to find out more about the baby’s genetic health – safely for both mother and baby.  

At Invimed, we offer two types of non-invasive prenatal testing (NIPT), available from as early as the 9th week of pregnancy: VERACITY and VERAgene.  

VERACITY Advanced

VERACITY Advanced is a non-invasive prenatal test with high accuracy (over 99% in detecting the most common trisomies). In addition to conditions such as Down’s, Edwards’ and Patau’s syndromes, it assesses the risk of sex chromosome abnormalities (Turner syndrome, Klinefelter syndrome) as well as the loss of small chromosomal segments, which can lead to serious syndromes (e.g. DiGeorge syndrome, Wolf-Hirschhorn syndrome).

VERACITY Advanced – find out more

VERAgene

VERAgene is an innovative prenatal test which is an enhanced version of the VERACITY Advanced test, offering the widest diagnostic scope amongst the non-invasive prenatal tests (NIPT) currently available. What makes it unique is that, in addition to analysing foetal DNA from the mother’s blood, it also takes into account the biological father’s genetic material (collected via a cheek swab). Thanks to this combination, it identifies the risk of the child inheriting over 100 monogenic (single-gene) disorders, such as cystic fibrosis, phenylketonuria or sickle cell anaemia. This is particularly important if there have been cases of autosomal recessive inherited disorders in the family, where the parents may be asymptomatic carriers.

VERAgene – find out more

	First-trimester ultrasound scan + PAPP-A	VERACITY Advanced	VERAgene
What is included?	the risk of trisomy	the risk of trisomy, sex chromosome aneuploidy and selected microdeletions	the risk of trisomy, sex chromosome aneuploidy, selected microdeletions and 100 monogenic disorders
Material	ultrasound scan + the mother’s blood	mother’s blood	the mother’s blood and a cheek swab from the father
Since which week	Weeks 11–14 of pregnancy	Week 9 of pregnancy	Week 9 of pregnancy
When to choose	if you’d like to:  – to check how the child is developing and to assess the structure of their organs,  – to assess the progress of the pregnancy,  – to assess the risk of the most common trisomies: Down’s, Edwards’ and Patau’s syndromes	when you wish to assess the risk of the most common chromosomal abnormalities – trisomies, sex chromosomes and microdeletions – in greater detail; This test is also recommended during in vitro fertilisation involving embryo transfer	when you want to obtain the most comprehensive information (apart from the risk of chromosomal abnormalities), where there is a history of recessively inherited conditions in the family, or where the parents may be carriers

Invasive prenatal testing 

Invasive prenatal tests involve the collection of material from the foetal environment (amniotic fluid, blood or placental samples) through a surgical procedure, i.e. by breaking the skin. The indication for these tests is an elevated risk identified in non-invasive screening tests. In such situations, screening tests are insufficient; the investigation must be extended to include tests that enable a precise diagnosis of foetal developmental disorders, i.e. diagnostic tests such as amniocentesis or chorionic villus sampling.

First-trimester tests 

First-trimester ultrasound scan 

The first-trimester ultrasound scan is carried out between 11 and 14 weeks of pregnancy. A few days beforehand (ideally 6–7 days), the patient should have a PAPP-A test, which involves analysing pregnancy-associated plasma protein taken from serum, in conjunction with a free β-hCG (F-β-hCG) test. The test is quick and painless; it simply involves taking a blood sample. During the appointment, the doctor examines the patient using an ultrasound scan (assessing, amongst other things, nuchal translucency – i.e. the accumulation of fluid beneath the skin tissue at the back of the foetus’s neck – as well as the shape and normal development of the nasal bone), and then enters the PAPP-A test results into the relevant computer programme. It is very important that the first-trimester ultrasound scan is performed by a doctor certified by the FMF (Fetal Medicine Foundation), which ensures that the scan is carried out in accordance with current guidelines and standards. The programme calculates the risk of foetal chromosomal abnormalities, i.e. Down’s syndrome (trisomy 21), Edwards’ syndrome (trisomy 18) and Patau’s syndrome (trisomy 13). The entire process takes place during a single appointment.  

The PREEK study 

The PREEK test is used to diagnose pre-eclampsia, or pre-eclampsia. This complication affects approximately 2-5% pregnancies and poses a serious risk to both mother and baby. The PREEK test involves the determination of SFLT-1 and PLGF, which are used as markers for pre-eclampsia.  

Testing for pre-eclampsia is most commonly performed in the first trimester (it can also be done throughout pregnancy), and is a biochemical test that involves drawing blood from the pregnant patient.  

Second-trimester (mid-pregnancy) ultrasound scan 

The second-trimester (mid-pregnancy) ultrasound scan is carried out between 18 and 22 weeks of pregnancy. During the scan, it is possible to assess the foetus’s anatomy, confirm normal development, rule out any potential birth defects and assess the risk of preterm birth. 

Third-trimester ultrasound scan

A third-trimester ultrasound scan is carried out between 28 and 32 weeks of pregnancy. It enables the foetus’s anatomy to be assessed, as well as the development of individual organs. During the scan, the doctor checks the condition of the placenta and the amount of amniotic fluid.

3D/4D scan

A 3D/4D scan is carried out between 26 and 30 weeks of pregnancy. This scan is particularly appealing to parents, as it provides a clear, three-dimensional image of the foetus. Seeing their baby’s face evokes many positive emotions, and the ultrasound printout serves as a keepsake for years to come. Equally delightful is the 4D ultrasound, which allows parents to watch their baby in real time, in the form of a video that we record onto a USB stick.

What diseases do prenatal tests detect? 

Prenatal testing makes it possible to monitor the progress of pregnancy and assess foetal development from the early stages right through to birth. For both parents and doctors, a key benefit of diagnostic testing is the ability to detect serious, sometimes life-threatening, defects or conditions in the baby. This makes it possible to initiate appropriate treatment during pregnancy or immediately after the baby is born.  

Prenatal ultrasound scans also detect conditions such as Down’s syndrome, Edwards’ syndrome and Patau’s syndrome. 

In addition, the VERACITY Advanced and VERAgene tests assess the risk of: 

• Klinefelter syndrome (XXY) 
• Jacob’s syndrome (XYY) 
• DiGeorge syndrome (22q11.2) 
• the Smith-Magenis syndrome 
• the Wolf–Hirschhorn team 
• Cri du Chat syndrome (5p deletion) 

In addition, VERAgene can detect the risk of over 100 genetic conditions that may only become apparent after the child is born, such as: 

• cystic fibrosis 
• sickle cell anaemia 
• Duchenne muscular dystrophy 
• Huntington’s chorea 
• phenylketonuria 

In addition to genetic defects, prenatal testing makes it possible to diagnose diseases that can be treated during pregnancy, e.g. urinary obstruction, thrombocytopenia. It is particularly important to detect a possible heart defect in the foetus. Early diagnosis is of great importance, as sometimes surgery while still in the womb may be the only chance of saving the child's life. 

The aim of all prenatal tests is to reassure parents and prepare them for the birth of their child. The risk of abnormalities is low, and modern medicine is becoming increasingly aware of how to deal with the appearance of possible illnesses in the child. 

Where to have the tests done and how to book an appointment

We carry out NIPT prenatal tests at all Invimed centres. Prenatal ultrasound scans are carried out by Kajetan Piątkowski at Invimed Gdynia. You can have VERACITY and VERAgene prenatal tests carried out at all Invimed centres.

To book an appointment for tests, please contact Invimed – in person, by telephone or by email. You can also book an appointment, by filling in the form.

Frequently asked questions

Bibliography

1. Bręborowicz, G. H. (ed.). (2020). Obstetrics and gynaecology. Vol. 1-2. Warsaw: PZWL Wydawnictwo Lekarskie. ISBN: 978-83-200-6229-8 
2. Recommendations of the Polish Society of Gynaecologists and Obstetricians and the Polish Society of Human Genetics on prenatal screening and diagnostic genetic testing. (2022). Gynaecology and Practical Perinatology, 7(1), 20-33 
3. Poprawski, G., Wender-Ożegowska, E., & Zawiejska, A. et al (2012). Contemporary methods for early diagnosis of pre-eclampsia and pregnancy-induced hypertension. Ginekologia Polska, 83(9), 688-693 
4. Recommendations of the Section of Ultrasonography of the Polish Gynaecological Society for screening ultrasound diagnosis in normal pregnancy. (2015). Polish Gynaecology, 7, 551-559 
5. Prenatal screening – Ministry of Health – Gov.pl portal