Starlight Ultrasound Offers Non-Invasive Prenatal Testing (NIPT)
What is NIPT?
The acronym NIPT stands for non-invasive prenatal testing and describes a range of screening tests available to pregnant women to estimate the risk of their fetus of having certain genetic diseases.
Such tests are described as non-invasive because they don’t break the skin or cause any contact with any internal body cavity; and prenatal because they are offered to expectant mothers before they have delivered their baby.
In this case a blood sample is drawn from the pregnant lady and an ultrasound scan is performed to take measurements.
What are the options?
All pregnant women in England are offered a standard screening test for Down’s syndrome, Edwards’ syndrome and Patau’s syndrome between 10 and 14 weeks of pregnancy, by the NHS.
It’s called a combined test because it combines an ultrasound scan, which measures the fluid at the back of the baby’s neck (the nuchal translucency or NT), with a blood test. The scan can be carried out at the same time as the 12-week pregnancy dating scan.
The mother’s age and the information from these 2 tests are used to work out the chance of the baby having Down’s syndrome (Trisomy 21), Edwards’ syndrome (Trisomy 18) or Patau’s syndrome (Trisomy 13). Trisomies occur when three, instead of the usual two, copies of a chromosome are present. Edwards’ and Patau’s syndromes are much rarer than Down’s but are very serious and unfortunately many affected babies do not survive.
Obtaining a nuchal translucency measurement depends on the position of the baby and is not always possible.
The combined test is considered less accurate than NIPT but irrespective of any non-invasive prenatal testing, it is recommended to still undergo the combined test where possible.
Quadruple blood screening test
If it was not possible to obtain an NT measurement, or the pregnant woman is more than 14 weeks into pregnancy, she will be offered a test called the quadruple blood screening test between 14 and 20 weeks of pregnancy. This only screens for Down’s syndrome and is not quite as accurate as the combined test.
For Edward’s syndrome and Patau’s syndrome, if it’s too far into pregnancy to have the combined test, a mid-pregnancy scan will be offered, which looks for physical conditions, including Edwards’ syndrome and Patau’s syndrome.
It is important to understand these screening tests are optional and are down to personal preference as to whether to undergo them or not to determine the risk of the fetus having any of these syndromes. They cannot confirm for certain whether the baby does or does not have any of them, but the results can provide information that may lead to further important decisions. There are further diagnostic tests that can confirm whether the baby has these conditions, but these tests do have a risk of miscarriage.
More About NIPT
The NIPT test is a screening test and therefore does not provide a diagnosis but looks for evidence of the conditions listed above and estimates the risk of a fetus having any of them.
There are a number of brands offering the NIPT and Starlight Ultrasound offers Harmony® & IONA® and it very much down to personal preference over which test is used or chosen by the patient. Starlight can provide up to date information at the time of your appointment with regards to recent experiences and turnaround times for results to be provided.
These screening tests have a higher detection rate than the current combined test. This means that fewer pregnant women will undergo unnecessary invasive follow-up procedures such as amniocentesis or Chorionic villus sampling (CVS) which are stressful, painful and can carry a small risk of miscarriage.
NIPT uses cell-free DNA (cfDNA) derived from the pregnancy to evaluate possible chromosomal conditions in a pregnancy.
It can be performed as early as 10 weeks of pregnancy using a single blood draw.
An ultrasound scan is performed to take measurements and is included in the total cost for the NIPT.
It is available for twin and singleton pregnancies as well as IVF pregnancies.
Some Advantages of NIPT
The NIPT tests offered by Starlight Ultrasound are safe and non-invasive with no risk of miscarriage and carried out by qualified, competent and experienced medical professionals and are available from ten weeks gestation.
The laboratories used are in the UK and no blood samples are shipped abroad as might be the case with some providers.
Reliable results are usually provided within 5-7 working days and each provider has published detection accuracy data which we can provide to you on request.
Optional fetal gender confirmation can be included at no extra cost.
The Harmony NIPT test can also check for:-
- Monosomy X – Also called Turner syndrome, a condition where a female is missing an X chromosome, and as a result, may have heart, endocrine, and learning problems (no additional charge);
- DiGeorge syndrome (22q11.2 deletion syndrome) – A condition caused by a small missing piece (‘deletion’) of chromosome 22, which can result in heart, kidney, learning, and growth problems (optional additional charge);
- Sex Chromosome Aneuploidy – Differences in the number of X and Y chromosomes which can result in certain learning and/or behavioural challenges in addition to other health issues (no additional charge).
It is important that any provider offering such screening tests are properly and suitably equipped to answer any questions both before they are taken and also afterwards based in the results. There are a number of considerations for parents and decisions mustn’t be taken lightly.
Starlight Ultrasound offers the Harmony NIPT for £395 which includes an ultrasound scan by Clinical Specialist Sonographer & Registered Midwife Laura Gardner. Appointments can be made online or over the phone.