NIPT Extended Test (Non-Invasive Prenatal Testing)
A blood test that can show chromosomal abnormalities in a fetus.
A non-invasive prenatal diagnostic test is a blood-based screening test that is safe and highly reliable. It is a method of determining the risk of the foetus being born with certain genetic anomalies. Please note that a NIPT Extended Test does not determine diagnoses. It tells you how likely a condition is to exist. This test can be performed from gestational week 11 (10+0) onwards.
Chromosomal anomalies can cause conditions that put you at risk for birth defects, stunted growth, various handicaps and/or intellectual disability.
Cellaviva's NIPT Extended Test identifies:
The chromosomal changes Down’s syndrome (trisomy 21), Edward’s syndrome (trisomy 18) and Patau’s syndrome (trisomy 13). Our test also provides information about the fetus’s X and Y sex chromosomes and whether there is any abnormality in the number of sex chromosomes, such as Turner’s, Klinefelter’s, Triple X or XYY syndrome. A NIPT test also shows the sex of the fetus.
If you want to know the sex of the baby, be sure to mark that option when ordering.
Down's syndrome (trisomy 21)
Caused by an extra chromosome on the 21st chromosome pair. It is the most common genetic cause of intellectual disability and can also cause medical difficulties. People with Down’s syndrome may have some degree of intellectual disability. Some children with Down’s syndrome have congenital heart defects or problems with other organs that may require surgery or medical treatment. Some have other medical conditions such as hearing or vision impairment and, in later life, dementia.
Edward's syndrome (trisomy 18)
This is caused by an extra chromosome 18 in some or all of the body’s cells. Most children with Edward’s syndrome have several serious defects in the brain, heart and other organs. Poor growth during pregnancy is common and many pregnancies end in miscarriage or stillbirth. Of the children born alive, most die before the age of one. Children who survive have severe intellectual disabilities and growth and development difficulties.
Patau syndrome (trisomy 13)
In most cases, this is caused by the presence of an extra chromosome 13 in some or all of the body’s cells. Most children with trisomy 13 have severe intellectual disability, several severe birth defects, abnormalities in the brain and other organs. Many pregnancies end in miscarriage or stillbirth. Of the babies who are born alive, most die before the age of one month.
Turner syndrome (monosomy X)
Means that one of the female sex chromosomes is partially or completely missing. It is the most common sex chromosome abnormality in women, affecting only girls, and 1 in 2,000 baby girls are born with Turner syndrome. It can cause a range of medical and developmental problems, including short height, failure of the ovaries to develop, hearing loss and heart defects.
Klinefelter syndrome (XXY)
Klinefelter syndrome is a genetic condition that results when a boy is born with an extra X chromosome. Affects about 1 in 500-800 males/boys born, making it one of the most common chromosomal abnormalities. Klinefelter’s syndrome is often not diagnosed until adulthood and in the majority of cases remains undiagnosed. Klinefelter syndrome may adversely affect testicular growth, resulting in smaller than normal testicles, which can lead to lower production of testosterone. The syndrome may also cause reduced muscle mass, reduced body and facial hair, and enlarged breast tissue.
Triple X syndrome (XXX)
Is a genetic condition that occurs when a girl is born with an extra, third, X chromosome and it affects about 1 in 1,000 females. Some girls and women with triple X syndrome may experience only mild symptoms or none at all. In others, symptoms may be more apparent — possibly including developmental delays and learning disabilities. Being taller than average height is the most typical physical feature. Early motor development is slightly delayed in girls born with the syndrome, they have intelligence in the normal range, but possibly slightly lower when compared with siblings.
XYY syndrome
Is a genetic condition that results when a boy is born with an extra Y chromosome in most or all their cells and affects about 1 in 1000 males/boys born. Most of them do not receive a diagnosis. Boys with XYY syndrome may be taller than average height, may have delayed development of their social, language, and learning skills.
About the process
NIPT Extended Test is a screening test performed on cell-free DNA
The test is performed on a blood sample taken from the arm. It requires a special blood tube, which we provide. 10 ml of blood must be collected, either by our staff or via a medical referral to a clinic near you.
It is recommended to perform NIPT Extended after an ultrasound to confirm that you have reached the 10-plus-week gestational mark. In Sweden, all pregnant women are offered an ultrasound around week 12 and another between weeks 18 and 20.
The result is very reliable, especially in the case of a negative result showing that there are no abnormalities. If the test shows that there is a suspected abnormality on any of the above chromosomes, you will be advised to confirm the answer with an amniocentesis or similar test. This is to rule out a false positive. In twin pregnancies, the reliability is slightly lower.
When not to do a NIPT Extended Test?
- If you are expecting three or more children
- Before pregnancy week 10+0
- If you have had an organ transplant, this may affect the result
Order your NIPT Extended Test kit here
Price: SEK 6,000
Analysis time: approx. 1-2 weeks from arrival at the laboratory.
