The IONA® test
The IONA® test is a non-invasive prenatal test for pregnant women which estimates the risk of a foetus having Down’s syndrome (T21), Edward’s syndrome (T18) and Patau’s Syndrome (T13). The IONA® test can now also test for XY chromosomes to determine the baby’s gender if required.
The IONA® test is an advanced screening test carried out on a small blood sample taken from the mother’s arm with no risk of miscarriage.
Why choose to have the IONA® screening test- NIPT?
Traditional screening that is offered by the NHS during pregnancy is currently called the combined test. This is an ultrasound scan to measure the nuchal translucency (NT) and a blood test. This is much less accurate than NIPT and it only detects around 85% of babies with Down’s syndrome.
The IONA® test has a higher detection rate than the current combined test offered to pregnant women. This means that fewer pregnant women will undergo unnecessary invasive follow-up procedures such as amniocentesis or CVS (chorionic villus sampling) which are stressful, painful and can carry a small risk of miscarriage.
- Safe: non-invasive with no risk of miscarriage
- Fast: results available in 3-5 working days
- Accurate: greater than 99% at detecting trisomy conditions (trisomy 21, 18 and 13) and greater than 97% at detecting fetal sex (optional)
- Local: the IONA® test is performed in a laboratory local to you, not shipped to US or China
- Quality: the IONA® test is a regulated screening test which is CE markedFrom 10 weeks gestation a small blood sample is taken from the mother’s arm and sent to a local laboratory for analysis with the IONA® test. The DNA from the mother’s blood is extracted and the test is performed on the small amount of DNA. During pregnancy, the placenta leaks fetal cell-free DNA which circulates in the maternal bloodstream. As a result, a maternal plasma sample contains a mixture of fetal and maternal circulating DNA. The IONA® test directly measures the amount of cell-free DNA and can detect small changes in the DNA ratio between the maternal and cell-free DNA when a fetal trisomy 21, 18 or 13 is present.
- How are the IONA® results reported?
- The IONA® Software for analysis calculates the relative amount of chromosomes 21, 18 and 13 to calculate a likelihood ratio to predict the presence of a trisomy. This figure is then combined with the mother’s age to calculate the probability of the foetus being affected.
- How the test works
- Low Risk: means that it is very unlikely your pregnancy is affected by trisomy 21, 18 or 13.
- High risk: means that your pregnancy is at increased risk for trisomy 21, 18 or 13 and the result should be confirmed by a follow up invasive such as amniocentesis.
- No result: Very occasionally there is insufficient placental DNA in the sample to obtain a result. Women may be asked back by your healthcare provider for a further blood sample.
For further information please visit www.the-iona-test.com
Price- £439 plus FREE Group Strep B worth £59
If you would like to discuss this screening test, or wish to book to have IONA® test carried out please either give us a call or book online
Harmony™ Prenatal Test
The Harmony™ Prenatal Test is an early and accurate test for Down syndrome and other trisomy conditions. The test can also determine fetal sex. (You can opt not to find out the sex of your baby if you wish)
Harmony testing can be carried out at Baby Moments after 10 weeks of pregnancy. The screening consists of an ultrasound scan to accurately date the pregnancy, followed by a blood test from the mothers arm.
The results are normally received and given to you within one week.
What is a trisomy?
We have 23 pairs of chromosomes, which are strands of DNA and proteins that carry genetic information. A trisomy is a chromosomal condition that occurs when there are three copies of a particular chromosome instead of the expected two.
Trisomy 21 is due to an extra copy of chromosome 21 and is the most common trisomy at the time of birth. Trisomy 21 causes Down syndrome, which is associated with mild to moderate intellectual disabilities and may also lead to digestive issues and congenital heart defects.
Trisomy 18 is due to an extra copy of chromosome 18. Trisomy 18 causes Edwards syndrome and is associated with a high rate of miscarriage. Infants born with Edwards syndrome may have various medical conditions and a shortened lifespan.
Trisomy 13 is due to an extra copy of chromosome 13. Trisomy 13 causes Patau syndrome, which is associated with a high rate of miscarriage. Infants born with trisomy 13 usually have severe congenital heart defects and other medical conditions. Survival beyond the first year is rare.
The Harmony Prenatal Test determines the risk of fetal trisomies by measuring the relative amount of chromosomes in maternal blood. The Harmony test assesses the risks of trisomies 21, 18 and 13 in the fetus, but does not rule out all fetal abnormalities.
How is the Harmony Prenatal Test different from other prenatal tests?
The Harmony Prenatal Test is based on the latest advances in non-invasive prenatal testing. It is a simple and safe blood test carried out on the mother.
Other screening tests may also be non-invasive, but have false positive rates of up to 5% and miss detection of up to 30% of fetal trisomy 21 cases. Such tests may falsely report a pregnancy as positive for a fetal trisomy when it is in fact negative (a false positive). Or they may falsely report a pregnancy as negative for a fetal trisomy when it is in fact positive (a false negative). The false positive and negative rates are significantly lower for the Harmony test. Diagnostic tests such as amniocentesis or chorionic villus sampling (CVS) are accurate for detecting fetal trisomies, but they are invasive and pose a risk for miscarriage.
The Harmony Prenatal Test detects more than 99% of fetal trisomy 21 cases at a false positive rate of less than 0.1%.
The cost of Harmony Non-Invasive Pre-natal Testing with Baby Moments is a total of Price – £469 plus FREE Group Strep B worth £59
If you would like to discuss this screening test, or wish to book to have Harmony Screening carried out please either give us a call or book online
Group B Streptococcus Testing Information
Group B Streptococcus (GBS) is the most common cause of life threatening infections in new born babies in the UK
What is Group B Streptococcus (GBS)?
Group B Streptococcus (GBS) is the UK’s most common cause of life threatening infections in new born babies, and of meningitis in babies up to age 3 months.
Most GBS infections can be prevented by giving antibiotics intravenously (through a vein) at the onset of labour to all women that carry GBS. UK guidelines recommend mums should be offered these antibiotics in labour if GBS has been detected during the current pregnancy, if a previous baby had GBS infection or if she has a fever in labour. Other risk factors include labour starting or waters breaking before 37 completed weeks of pregnancy and waters breaking more than 18 hours before birth.
Intravenous antibiotics in labour are highly effective at preventing GBS infection in new born babies, reducing the risk for a baby born to a women carrying GBS from around 1 in 300 to less than 1 in 6000. Oral antibiotics should not be given during pregnancy for GBS carriage as they have not been shown to reduce GBS infection in babies.
There are always small but potentially serious risks associated with taking antibiotics, and this needs to be fully discussed with your doctor or midwife.
Detecting a GBS carrier
Screening for GBS is not routinely offered in the NHS. Laboratory testing of GBS is routinely undertaken at the Laboratory we send the samples to.
Two swabs (lower vaginal and rectal) need to be cultured, ideally in the last five weeks of pregnancy, to best predict GBS carriage around the time of delivery. The swabs will be taken by yourself in privacy.
When the ECM test is properly performed within 5 weeks of giving birth, a negative result was shown to be 96% predictive of not carrying GBS at delivery (4% of women acquired carriage between the test and birth) and a positive result 87% predictive of carrying GBS at delivery (13% of women lost carriage in that time). The test can be done earlier, but isn’t as reliable at predicting carriage status over longer periods. It can be done later, but the chance of the baby arriving before the result increases.
The results of the test takes between 3-5 days to be returned. This will be sent to you via a text message to show if the test is positive or negative. In the result of a positive test, you will need to let you GP/Midwife know as soon as possible. It is also advised to present this information as soon as you go into labour, so the antibiotics can be arranged for you.
Outlook Newborn Screening Test
The Outlook newborn screening test can screen your baby for a range of genetic conditions likely to develop within their first few months of life. It gives you a clear picture of your baby’s predisposition to develop:
This is an allergy to milk and dairy products, which can develop at any age. People with lactose intolerance are unable to break down two sugars called glucose and galactose, due to reduced production of the enzyme, lactase. This causes bacteria to develop in the digestive system and can cause abdominal pain, diarrhoea and nausea and vomiting after milk-based products are consumed.
Also known as gluten intolerance, coeliac disease is fairly common and can develop and be diagnosed at any age. It involves the small intestines becoming hypersensitive to gluten, causing inflammation and an inability to absorb important nutrients. This leads to digestive problems and a range of other symptoms. Trigger foods include wheat, barley and rye found in pasta, cakes, cereals, bread and some sauces.
A certain type of antibiotics commonly used in the treatment of infants – aminoglycosides – are known to cause damage to the inner ear. Some children carry a mitochondrial mutation that predisposes them to severe hearing loss after just one dose of these antibiotics.
An adverse reaction to foods such as cabbage, broccoli, sprouts and other cruciferous vegetables, bitter taste is caused by sensitivity to bitter-tasting compounds called glucosinolates. People who have this increased sensitivity are known as ‘tasters’. The presence of this genetic trait can determine whether someone is likely to have an increased bitter taste response to certain foods than ‘non-tasters’.
Why have the Outlook screening test?
A newborn screening test is a simple way to gain peace of mind. Screening for genetic variants of these four conditions can mean that, if symptoms develop, their condition can be diagnosed and treated faster. It can also prepare you for any possible medical or dietary requirements your child may have in the future.
How is the test carried out?
The test consists of two swabs, one rubbed against the inside of your baby’s right cheek and one rubbed against the left. Swabbing each cheek takes two minutes and is painless, requiring no more force than you would use to clean your baby’s teeth.
The test can be carried out at any age from newborn upwards. Swabs can’t be taken within 30 minutes of a milk feed as milk residue will interfere with the test results.
Your baby’s swabs will be sent to a Nottingham-based lab for analysis, and the results will be posted directly to you within 21 working days of receipt.
Price – £295
If you would like to discuss this Outlook screening test, or wish to book to have Screening carried out please either give us a call or book online