Non Invasive Prenatal Testing (NIPT) - PrenatalSAFE Karyo Plus

The comprehensive PrenatalSAFE Karyo Plus NIPT blood test will assess the sample to identify the number of copies for chromosomal abnormalities which can affect the health of your baby or babies. If you receive a high risk result, you will be offered support from a professional Genetic Counsellor at no extra cost. Unlike other providers, our genetic counselling service is included in the price of the test.

Suitable for all expectant mothers and available from 10 weeks onwards, this test provides:

• Sex of the baby or babies (single foetus or identical twins only)
• A range of common sex chromosome disorders (Turner Syndrome, Klinefelter Syndrome, Triple X, and Jacobs Syndrome)
• Down Syndrome (Trisomy 21)
• Edwards Syndrome (Trisomy 18)
• Patau Syndrome (Trisomy 13)
• All chromosomes (chromosomes 1 – 22 plus sex chromosomes) are screened for aneuploidies alongside other structural abnormalities such as deletions and duplications (>7mb).

It also includes a test for 9 key microdeletion syndromes:

• Angelman Syndrome
• Cri-du-chat Syndrome
• DiGeorge Syndrome
• Jacobsen Syndrome
• Langer-Giedion Syndrome
• Prader-Willi Syndrome
• Smith-Magenis Syndrome
• Wolf-Hirschhorn Syndrome
• 1p36 Deletion Syndrome

Analysed in a leading laboratory, the test is suitable for all pregnant women from 10 weeks of pregnancy onwards, with single or multiple foetuses and conceived naturally or using IVF/Donor Eggs. You do not have to be considered high risk, and can be of any age to take this test.

Based on an internal study from Eurofins Genoma, the test is highly accurate, with positive predictive values (the likelihood of the result being correct and not a false-positive) of:

• Trisomy 21 (Down Syndrome) – 99.32%
• Trisomy 18 (Edwards Syndrome) – 98.94%
• Trisomy 13 (Patau Syndrome) – 82.22%
• Monosomy X or Turner Syndrome (sex chromosome disorder) – 80%
• Klinefelter syndrome (sex chromosome disorder) – 94.44%
• Jacobs Syndrome (sex chromosome disorder) – 96.30%

Unlike an invasive test such as an Amniocentesis, this simple blood test does not pose any risks to a pregnant woman or her unborn child. It is the safest way to detect genetic health conditions before birth.

What are Sex Chromosome Disorders?

Our test includes a check for sex chromosome aneuploidies, common types of sex chromosome disorders. Sex chromosome aneuploidies refer to conditions in which an individual’s sex chromosomes are abnormal in number. Normally, a person has two sex chromosomes, either two X chromosomes (female) or one X and one Y chromosome (male). However, in sex chromosome aneuploidies, there is an extra or missing sex chromosome, leading to various physical and developmental abnormalities.

For example, some common sex chromosome aneuploidies include Turner syndrome (or Monosomy X), which results from a missing X chromosome in females, and Klinefelter syndrome, which results from an extra X chromosome in males. These conditions can affect physical features, such as height and fertility, as well as cognitive and behavioural development.

What are Aneuploidies?

Aneuploidies refer to conditions in which an individual has an abnormal number of chromosomes in their DNA.

Normally, a person has 46 chromosomes in each cell, with 23 inherited from each parent. However, in autosomal aneuploidies, there is an extra or missing chromosome, leading to various physical and developmental abnormalities.

Our prenatal blood test includes checks all chromosomes for autosomal aneuploidies, deletions or duplications.

What are Microdeletion Syndromes?

Microdeletion syndromes are a group of genetic disorders that occur when a tiny piece of genetic material is missing from a person’s DNA. This type of genetic abnormality is called a microdeletion.

These microdeletions can affect one or more genes and can lead to a wide range of physical and developmental abnormalities. Some examples of microdeletion syndromes include

• Prader-Willi syndrome: a condition that affects cognitive development, causing intellectual disability, as well as behavioural problems, feeding problems and weak muscle tone.
• DiGeorge syndrome: a condition that affects the immune system and can lead to heart defects, cleft palate, and developmental delays.
• Cri du Chat syndrome: a condition that affects physical and cognitive development, causing distinctive facial features and intellectual disability.

Microdeletion syndromes can be diagnosed through genetic testing and may be identified prenatally or in early childhood. Treatment options depend on the specific symptoms and can include therapies like speech and occupational therapy, as well as medications and surgeries to manage any associated medical conditions.

When will I get the results?

The results will be sent to you directly in 10-12 working days of the sample being received at the laboratory. The results report will clearly state whether the conditions have been detected so you can take this information to your GP for further discussion and investigation if needed.

Free post-test genetic counselling is provided for any results which show a positive chance of a condition affecting your baby or babies.

Did you know our PrenatalSafe Karyo test (£645) provides results within within 5-7 working days. More information can be found here.

Important information

To qualify for this test you must:

• be at least 10 weeks pregnant
• have completed your first scan (private or NHS)

Goodbody will provide a specialised testing kit to be used by a qualified professional only.