The IONA® test is Yourgene’s proprietary Non-Invasive Prenatal Test (NIPT) for pregnant women which estimates the risk of a fetus having Down’s syndrome (Trisomy 21), Edwards’ syndrome (Trisomy 18) and Patau’s Syndrome (Trisomy 13) from as early as 10 weeks gestation.
This is part of our core menu for NIPT screening, covering the three trisomies.
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 many affected babies do not survive.
The IONA® test is an advanced screening assessment that detects these copies from a maternal blood sample.
Traditional first trimester screening offered during pregnancy is called the First Trimester Combined Test (FTCT). This is an ultrasound scan to measure the nuchal translucency (NT) and a blood test.
This method is less accurate at detecting fetal trisomies (85-90%) but can help with the early detection of both maternal and fetal complications.
The IONA® test has the option to incorporate the result of the FTCT into the calculation to offer you the most comprehensive and tailored prenatal screen.
Trisomy 21
Seen in about 1 in 691 to 873 live births (Reference 1, 2)
Trisomy 18
Seen in about 1 in 3762 to 11744 live births (References 1, 2)
Trisomy 13
Seen in about 1 in 7906 to 41944 live births (References 1, 2)
Like all other non-invasive prenatal tests (NIPT), the IONA® test is a screening test and high-risk results should be confirmed by a follow-up invasive procedure such as amniocentesis.
References:
1) Mai CT, Kucik JE, Isenburg J, Feldkamp ML, Marengo LK, Bugenske EM, Thorpe PG, Jackson JM, Correa A, Rickard R, Alverson CJ Kirby RS and for the National Birth Defects Prevention Network. Selected Birth Defects Data from the Population-Based Birth Defects Surveillance Programs in the United States, 2006 to 2010: Featuring Trisomy Conditions. Birth Defects Res A Clin Mol Teratol 2013 97(11): 709-25. (https://ncbi.nlm.nih.gov/pmc/articles/PMC4636004/)
2) NCARDRS Congenital Anomaly Official Statistics Report 2020 2.3. Prevalence of babies with Down’s syndrome, Edward’s syndrome and Patau’s syndrome (https://digital.nhs.uk/data-and-information/publications/statistical/ncardrs-congenital-anomaly-statistics-annual-data/ncardrs-congenital-anomaly-statistics-report-2020)
A Private Provider’s View on NIPT
Non-Invasive Prenatal Screening (NIPT) is available in the form of the IONA® test and IONA® Care from Yourgene Health’s Genomic Services laboratory in Manchester, UK.
The IONA® test requires a maternal blood sample from the 10th week of gestation and uses next generation sequencing to determine the likelihood that the pregnancy is affected by trisomy 21, 18 or 13.
Read our Your Expert article with Helen Stanley, from The Midwife Company.
The Truth About Statistics in NIPT
Like all screening tests, NIPT results that fall into the high-chance category still need to be confirmed by other diagnostic methods, such as amniocentesis or chorionic villus sampling, but its higher accuracy means that fewer women need these invasive procedures.
With the growing adoption of this method, there has been reported confusion around its accuracy and ‘diagnostic’ capabilities, which can leave patients more uncertain and anxious. The aim of this paper is to explain the essential statistics related to NIPT, and how they should be communicated to patients, so they can walk away with adequate and clear information.
Read the full Your Expert article ‘The Truth About Statistics in NIPT’
If you have a question, need further information, or are interested in offering our NIPT service to your patients, we're here to help.
