Your guide to health and prenatal genetics

Assess your personalised prenatal risks, choose screening tests, and find nearby maternity clinics


What is Antenatal Screening?

When you’re pregnant, antenatal screening provides information about your baby's health before he or she is born. Antenatal screening tests help detect serious chromosome conditions that could affect him, like birth defects, genetic diseases or different abnormalities:

Chromosomal abnormalities

An extra copy of a chromosome, which leads to spontaneous miscarriage, or severe health issues including birth defects and intellectual disabilities.


Relatively small loss of a portion of a chromosome, occur independently of maternal age and can lead to fetal health issues including developmental and learning disabilities.

  • 22q11 (Di George syndrome)
  • 15q11 (Angelman syndrome)
  • 15q11 (Prader Willi syndrome)
  • 1p36 deletion syndrome
  • 5p (Cri-du-chat syndrome)
  • 4p16.3 (Wolf-Hirschhorn syndrome)
  • 11q23 (Jacobsen syndrome)
  • 8q24.1 (Langer-Giedion syndrome)
  • 1q32.2 (Van der Woude syndrome)
  • 2q33.1 deletion syndrome
  • 10p14-13 (Di George syndrome II)
  • 16p12 deletion syndrome
Sex chromosomal aneuploidies

An extra or missing copy of the sex chromosomes X or Y leading to severe health and developmental risks.

  • Monosomy X (X0) (Turner syndrome)
  • XXY (Klinefelter syndrome)
  • XXX (Triple X)
  • XYY (Jacob syndrome)
  • XXYY
Find out more


Who should consider Antenatal Screening?

The risk of birth defects or disorders increases with mother’s age. Incidence rate for chromosomal abnormalities starts increasing significantly from the age of 30 with clinically high risk category considered from 35 years.

However, other genetic disorders, such as microdeletions or sex aneuploidies are age independent and occur at the rate of 1/1000 and 1/290 respectively. Therefore, antenatal screening tests which can detect these abnormalities are recommended as a standard of pregnancy screening.

Use our MyAdvisor tool to assess your personal risk for Down syndrome, other trisomies, microdeletions, and sex aneuploidies.

My Advisor
Potential personal risks for down syndrome and microdeletions


Why should you consider Antenatal Screening?

Test results and early identification of abnormalities can help you make the best health care decisions before and after your child is born.

The negative result will provide you with a much needed comfort during your pregnancy period. The positive test result will guide you towards the best course of action – be it a therapy to stimulate your child’s brain development, or better preparation for a post-delivery period.

Most importantly, early and accurate test results enable you to make an informed decision regarding the future of your pregnancy and your personal safety.

Test types

What types of Antenatal Screening Tests exist?

During the first trimester of your pregnancy there are antenatal screening and diagnostic tests available for you. Antenatal screening (non-invasive) tests assess a potential risk level of particular abnormalities. Diagnostic (invasive) tests provide a definite answer in relation to fetal health issues.

Antenatal screening tests

There are traditional methods, such as Maternal Serum Screening (MSS) or Nuchal Translucency (NT) ultrasound scan and more advanced Non-Invasive Prenatal Tests (NIPT), also known as cell-free fetal DNA (cfDNA) genetic prenatal screening tests. NIPT is considered a major breakthrough in prenatal testing delivering a non-invasive and highly accurate way to determine particular genetic abnormalities your baby might develop.

Maternal Serum Screening (MSS)

Administered between weeks 11 and 14 of pregnancy

First trimester screening (FTS) measures 2 biochemical markers - free beta human chorionic gonadotrophin (b-hCG) and plasma protein A (PAPP-A),

FTS can be integrated with 2nd trimester screening (from 14 week) to screen for more markers - AFP (alfa fetoprotein), b-hCG, unconjugated estriol (uE3), and inhibin-A (triple/quadro screen)

Screens for Trisomy 21 (Down syndrome)

Screens for neural tube defects (NTD)

Slightly cheaper and more broadly available

Narrow scope

Less accurate than NIPT

Not screened for heart defects, and abdominal wall defects

Nuchal Translucency Ultrasound Scan (NT scan)

Administered between weeks 11 and 14 of pregnancy

Measures the fluid collection under the skin at the back of the baby's neck (the nuchal translucency (NT)). Babies with Down's syndrome tend to have more fluid in this area.

Screens for Trisomies 21 (Down syndrome), T18, T13

Screens for other body defects

Non-Invasive Prenatal Test (NIPT)

Administered from week 9-10 of pregnancy

Uses new genetic sequencing technologies

Simple blood draw at your clinic

Can be additionally used after traditional screening shows high risk of abnormalities

Trisomies 21 (Down syndrome), 18, 13

Optional sex chromosomal aneuploidies

Optional microdeletions

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Antenatal diagnostic tests

If the result of a non-invasive antenatal screening test is positive, an expectant mother can consider an invasive diagnostic test, which provides a more definite answer. These tests carry an inherently higher risk of miscarriage (1/100 or 1%).


Administered between weeks 15 and 18 of pregnancy

A needle, guided by ultrasound to avoid damage to the fetus, is inserted through the abdomen to take a small sample of amniotic fluid around the baby

Detects chromosomal abnormalities associated with Down syndrome, Trisomy 18 and 13

Chorionic Villus Sampling (CVS)

Administered between weeks 11 and 14 of pregnancy

A needle, guided by ultrasound to avoid damage to the fetus, is inserted through the abdomen to take a sample of chorionic villus cells from the placenta

Detects chromosomal abnormalities associated with Down syndrome, Trisomy 18 and 13

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How does Non-Invasive Prenatal Test work?

Maternal blood contains approx. 10% of fetal DNA
A blood draw is taken from a mother, which is subsequently sent to lab
A lab analysis fetal DNA in a mother’s blood using DNA sequencing equipment
Fetal DNA sequencing results are analysed to identify abnormalities
Personalised results showing the risk of abnormalities are generated


What should I do next?

These are the top NIPTs available on the market:

Private antenatal screening clinic lobby


Where can I get NIPT done?

Use MyAdvisor tool to find your nearest clinic, which administers Non-Invasive Prenatal Tests (NIPT). The database contains all clinics including contact details and test prices.

My Advisor