Watching those two lines appear on a pregnancy test is usually the start of an exciting journey. A new life represents hope and joy for the future.
For many, it can also be a cause for heightened worry and anxiety. Pregnancy can be full of unknowns, particularly if you have a family history of genetic conditions that could be passed on to your baby or if you are an older mother, which increases the risk of chromosomal abnormalities in pregnancy.
Fortunately, technology today can give expectant mothers a much more detailed insight into the developing foetus, giving them peace of mind that all is well. On the other side of the coin, if there are issues that may cause concern, then prior knowledge gives the parents time and space to come to terms with any problems and prepare for them accordingly.
Non-invasive prenatal testing for chromosomal abnormalities
Testing for Down’s and other pregnancy chromosomal abnormalities has long since been carried out through an amniocentesis which is usually carried out after 15 weeks of pregnancy. This is a procedure whereby a long thin needle is inserted through the amniotic sac to remove a small sample of amniotic fluid. The trouble is that amniocentesis is an invasive procedure that carries with it a risk of miscarriage up to one in 100.
NIPT – non-invasive prenatal testing – can be carried out at 10 weeks and is just that – non-invasive, which completely eliminates the risk to the foetus. NIPT includes both a scan and a blood test and will give you accurate information concerning the probability of chromosomal abnormalities in your pregnancy, including trisomy 21 (Down’s Syndrome), trisomy 18 (Edward’s Syndrome), trisomy 13 (Patau’s syndrome) as well as sex chromosome conditions.
NIPT testing can also assess the likelihood of sex chromosome disorders caused by having a missing or extra copy of X and Y chromosomes. These include Turner syndrome and extra microdeletions, such as Klinefelter syndrome, Di-George Syndrome and Prada Willi Sydrome.
How is NIPT testing done?
From your 10th week of pregnancy, you can opt to have a NIPT screening test, which will involve a blood test and a scan.
The mother initially has to give a blood sample which is sent to a lab to extract the foetal DNA, which will highlight any problems that the ultrasound will not show.
Combined with the information gathered during the NIPT scan, you will receive a detailed report which outlines the chromosomal risk factor of your pregnancy.
NIPT test accuracy
It is important to understand that the accuracy of the NIPT test is designed to give you as much information as possible to guide you in the right direction.
A NIPT test is important for parents who have a family history of chromosomal abnormalities or where the mother is older. The risk of Down’s Syndrome in a mother of 35 and above is higher than in younger mothers. For example, a woman who conceives at the age of 25 has a risk factor of 1 in 1250. For a woman who conceives at the age of 40, that risk of Down’s increases to one in 100.
If you are in the high-risk cohort, a non-invasive procedure will give you more insight into your pregnancy’s risk factors. If your results come back low risk, then you can avoid the risks involved with having a more invasive amniocentesis.
However, if your NIPT results come back high risk, you may want to explore the option of having either an amniocentesis or a chronic villus sampling (CVS) procedure for more accurate results. These do have a higher risk of miscarriage, and through having a NIPT, you have more information with which to balance out the risk factor of going through these more invasive procedures.
Is genetic screening for pregnancy right for you?
While genetic screening for pregnancy can be a controversial topic, for many parents across the UK, prenatal DNA testing can be a powerful way of giving you peace of mind and allowing you to relax and enjoy the rest of your pregnancy without any of the anxieties caused by great unknowns.
It is up to you, the parents, to know and understand your own history and assess whether prenatal screening is right for you. The benefits include:
- If there are any issues, you get to know sooner rather than later, so you have much more time to prepare accordingly.
- If you are a natural worrier, it will give you peace of mind and allow you to relax and enjoy these precious months.
- You have the knowledge and support of a team of professionals in addition to your NHS midwife and GP surgery.
- You get a 4D sneak preview of your baby.
- You get to know the sex of your baby much sooner
Booking a NIPT test near me
If you feel that a NIPT scan and blood test is the right choice for your pregnancy, you can schedule an appointment in one of our UK clinics or call us on 0203 9607960 for more information.
