ANTENATAL TESTING

Non-Invasive Prenatal Testing (NIPT)

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NIPT offers expectant parents the latest in antenatal screening technology, to identify the risk of genetic conditions during pregnancy. Performed using a simple blood test from the mother with no risk to your unborn baby in comparison to one of the 'next step' diagnostic tests such as Amniocentesis or Corionic Villus Sampling. Each test is performed using a simple maternal blood sample at one of our recommended clinics or at home.​

TRIMESTER 3

Trimester THREE screens all 24 chromosomes for the most common conditions, this includes analysis of chromosomes 9 and 16 which are known to cause intellectual and physical abnormalities, miscarriage and loss or duplication of pieces of chromosome >7Mb  (minimum 7Megabase). 

• ALL 24 Chromosomes are screened

• Downs Syndrome (Trisomy 21)

• Patau’s Syndrome (Trisomy 13) 

• Edwards Syndrome (Trisomy 18)

• Turners Syndrome (Monosomy X)

• Klinefelter Syndrome Trisomy XXY)

• Jacobs Syndrome (Trisomy XYY)

• Trisomy X​

• Gender Determination (optional) 

• Available from 10 weeks

• Results within 3-5 Working Days​

TRIMESTER 4

Trimester FOUR provides analysis of all 24 chromosomes for the most common conditions, including 9 and 16 which are known to cause intellectual, physical abnormalities and miscarriage. As well as 5 specific microdeletion regions, associated with six distinct syndromes affecting; motor skills, physical features, speech and language, and causing distinctive behavioural problems and miscarriage.

• Downs Syndrome (Trisomy 21)

• Patau’s Syndrome (Trisomy 13) 

• Edwards Syndrome (Trisomy 18)

• Turners Syndrome (Monosomy X)

• Klinefelter Syndrome Trisomy XXY)

• Jacobs Syndrome (Trisomy XYY)

• Trisomy X

• Gender Determination (optional) 

• Available from 10 weeks

• Results within 7-10 Working Days​

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Plus 6 Microdeletion Syndromes

• Di George Syndrome

• Cri du Chat Syndrome

• Angelman Syndrome

• Wolf-Hirschorn Syndrome

• 1p36 Deletion Syndrome

• Prader-Willi Syndrome.

TRIMESTER 2

This test provides analysis of chromosomes 13, 18, 21 and X and Y sex chromosomes.

• Downs Syndrome (Trisomy 21)

• Patau’s Syndrome (Trisomy 13) 

• Edwards Syndrome (Trisomy 18)

• X & Y

• Gender Determination (optional)  

• Available from 10 Weeks

• Results within 3-5 Working Days

PRICES

Non-Invasive Prenatal Testing (NIPT)

NIPT EXPLAINED

Non-invasive prenatal testing works by analysing the cell-free DNA (cfDNA) present in the maternal bloodstream.

CfDNA is made up of genetic material from both the mother and baby. NIPT can identify small changes in the amount of DNA derived from individual chromosomes, these occur when the pregnancy has an abnormal number of chromosomes (aneuploidy).

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WHY TEST?

Everyone has their own personal reason for performing NIPT. For some they do not know their biological family or there is a history of genetic disease within the family. For other parents it is due to a history of recurrent miscarraige or general pregnacy anxiety, for may it is purely for reasurance purposes. 

CAUSES OF GENETIC CONDITIONS

Humans have 23 pairs of chromosomes (for a total of 46 chromosomes) { One copy of each chromosome comes from the mother (egg); the other copy comes from the father (sperm)

• The first 22 pairs are called autosomes, and they are same in males and females

• The 23rd pair of chromosomes is called sex chromosomes.

Females have two copies of the X chromosome and males have one X and one Y chromosome. 

An abnormality in an embryo's chromosomal configuration may cause a specific syndrome to occur or may cause the pregnancy to miscarry. Sometimes embryos are created with too many or too few chromosomes—a condition known as aneuploidy. 

Aneuploidy is a major contributor to miscarriage, in vitro fertilization (IVF) failure, and various health conditions, including Down's syndrome. 

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NIPT RESULTS & ACCURACY

Accuracy is dependent on the syndrome you are screening for. There is a very small chance the test will not detect an affected pregnancy. There is a small chance (around 0.3%) that the test will incorrectly show a positive result, in this instance we would always recommend diagnostic testing.

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NIPT is more accurate than the first trimester NHS combined test or second trimester NHS quadruple test for estimating the risk of genetic disease. However, NIPT is a form of 'screening' and is not a diagnostic test. Amniocentesis or Corionic Villus Sampling are the recommended tests which are diagnostic however, as these come with risks of miscarriage it is recommended to use the no risk NIPT test as the first step. Any concerns during pregnancy should always be discussed with your health care provider.

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FACTORS THAT AFFECT RESULTS

Results that are reported as negative do not eliminate the possibility that the pregnancy has other chromosomal abnormalities, genetic conditions, or birth defects. There is a small possibility that the results might not reflect the chromosomes of the baby, but the chromosomal status of the mother or placenta (a situation known as “placental mosaicism”) or the presence of a tumour (as tumours often have an incorrect number of chromosomes in their cells). 

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POINTS TO CONSIDER

• Results apply only to conditions tested

• A negative result means your pregnancy has a decreased chance of having a condition { In most cases, the condition is truly not present (true negative result) { Rarely, the condition may be present (false negative result)

• A positive result means an increased chance of having the condition { In most cases, the condition is truly present (true positive result) { In some of these, the condition is not present (false positive result)

• Since NIPT is a screening test, results should be taken into context of the overall pregnancy picture and positive results should always be confirmed prior to making pregnancy management decisions.

TWIN PREGNANCY

All Trimester tests can be performed with twins with the exception of Trimester ONE.  As with all NIPT test providers, the status of each individual baby cannot be determined, therefore the result will reflect the entire pregnancy. The test can also only report the presence or absence of Y chromosome material (found only in males) but it will not be clear whether both twins are male or just one of them. 

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TEST FAILURE 

Please be aware that a small number of samples can fail the NIPT process when there is not enough fetal DNA in the mother’s blood to extract."  Trimester 2, 3 and 4 have the advantage of having the lowest failure rates of any NIPT test currently available (0.1%).

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