Non Invasive Prenatal Testing (NIPT) - PrenatalSAFE 5

The sex chromosome conditions. As well as Down's, Edwards' and Patau syndromes, PrenatalSAFE 5 counts the X and Y chromosomes to screen for Turner syndrome (a girl with a single X), Klinefelter syndrome (a boy with XXY), Triple X syndrome (a girl with XXX) and Jacobs syndrome (a boy with XYY). Together these affect around 1 in 400 births, more than Edwards' and Patau combined, and they are not screened for by the NHS.

They are differences in the number of X or Y chromosomes. Turner syndrome affects growth, heart and fertility in girls and often benefits from early treatment. Klinefelter syndrome in boys is often mild and may only be noticed through learning differences or reduced fertility in adulthood. Triple X and Jacobs syndromes are usually mild, with a wider range of height and some learning or behavioural differences, and many people are never diagnosed. Knowing early allows planning and support; a high-chance result is always discussed with a genetic counsellor and confirmed before any conclusion is drawn.

NIPT reports the baby's sex with over 99 percent accuracy in single pregnancies and identical twins, because it reads the sex chromosomes directly. It is not reported for non-identical twins, and it is not reported for any twin pregnancy on PrenatalSAFE 5, which is designed for single pregnancies. You can choose not to be told. Because the same sex chromosome count is used to screen for Turner, Klinefelter, Triple X and Jacobs syndromes, sex and those conditions are reported together.

For Down's syndrome, NIPT detects more than 99 percent of affected pregnancies with a false-positive rate below 0.1 percent, which is why it has replaced older blood tests. Accuracy is lower for the rarer conditions, and the positive predictive value, the chance that a high-chance result is correct, varies by condition and by how common it is: the laboratory's own figures are around 99 percent for Down's syndrome, 99 percent for Edwards', 82 percent for Patau, 80 percent for Turner, 94 percent for Klinefelter and 96 percent for Jacobs syndrome. In around 1 to 3 percent of samples too little placental DNA is present for a result and a repeat sample is needed at no charge.

Yes. The only sample is a blood draw from your arm, the same as any routine pregnancy blood test. Nothing touches the baby or the womb, so there is no risk of miscarriage, unlike chorionic villus sampling or amniocentesis, which are only used to confirm a high-chance result. That safety is the reason NIPT has replaced older screening methods.

No. NIPT is a screening test. It reads fragments of placental DNA in your blood and reports whether the chance of each condition is high or low. Because placental DNA occasionally differs from the baby's, a high-chance result must be confirmed with a diagnostic test, chorionic villus sampling or amniocentesis, before any decision is made, and the NHS will arrange that. A low-chance result is strongly reassuring but not a guarantee, and it does not screen for every condition or for structural problems, which the 20-week scan looks for.

You are contacted personally rather than simply emailed, and offered a consultation with a professional genetic counsellor at no extra cost, included in the price of every PrenatalSAFE test. The counsellor explains exactly what the result means for your pregnancy, the confirmatory options available on the NHS, and the timescales, and can talk to your midwife or consultant. You are not left to interpret a report alone.

Because sex chromosome conditions cannot be reliably screened when DNA from two babies is mixed in the mother's blood, and the baby's sex cannot be assigned to either twin in a non-identical pregnancy. For twins, PrenatalSAFE 3 screens the three trisomies reliably and reports sex for identical twins. A vanishing twin also affects what can be reported; tell us when you book.

The NHS offers the combined test at 11 to 14 weeks, an ultrasound measurement plus two blood markers, which gives a chance figure and misses around one in ten Down's syndrome pregnancies. Only women whose combined test shows a chance of 1 in 150 or higher are then offered NIPT on the NHS, and NHS NIPT screens for Down's, Edwards' and Patau syndromes only. A private NIPT can be taken by anyone from 10 weeks, without waiting for the combined test result, and the wider PrenatalSAFE panels screen for conditions the NHS test does not cover.

You must be at least 10 weeks pregnant and have had your first scan, NHS or private, to confirm dates and the number of babies. Goodbody sends you a specialised collection kit to bring to your appointment at one of 250+ clinics or for the nurse who visits your home; the venous sample must be taken by a qualified professional. No fasting or preparation is needed, and the test is safe at any stage after 10 weeks.

PrenatalSAFE 5 is from £375 when you arrange your own professional blood collection, £395 at one of 250+ Goodbody clinics or £415 with a nurse home visit, including the collection kit, laboratory analysis, your report and genetic counselling for any high-chance result. Private NIPT in the UK typically costs £350 to £600 for a comparable panel.

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