1. From 9 weeks* onwards you will have an ultrasound scan and blood test.
2. Your blood sample is sent to the laboratory for analysis.
3. Your result is available 10 to 12 working days* later.
The Panorama NIPT (Non-invasive prenatal testing) Test, analyses cell-free DNA circulating in the pregnant mother’s blood. It is a new option in prenatal screening for chromosome syndromes.
Your appointment will include a blood test and an ultrasound scan to confirm dates and viability.
A simple blood draw from the mother’s arm is then performed and this sample is shipped directly to the USA and results are back in 10 to 12 days*. If your result is not reassuring, Prof. Malone or Prof. Daly will arrange to call you to discuss the results in detail and advise you of further testing and consultation.
DNA from the fetus circulates in the mother’s blood.Cell-free DNA (cfDNA) results from the natural breakdown of fetal cells (presumed to be mostly placental) and clears from the maternal system within hours of giving birth.
During a pregnancy, cfDNA can be tested to give the most accurate screening approach in estimating the risk of a fetus having a common chromosome condition sometimes called a trisomy. This occurs when there are three copies of a particular chromosome instead of the expected two. The test looks to detect the following trisomies:
Panorama NIPT price is € 460.00
Is the most common trisomy at the time of birth. Also called Down syndrome, it is associated with moderate to severe intellectual disabilities and may also lead to digestive disease, congenital heart defects and other malformations.
Trisomy 18 (Edwards syndrome) and Trisomy 13 (Patau syndrome) are associated with a high rate of miscarriage. These babies are born with severe brain abnormalities and often have congenital heart defects as well as other birth defects. Most affected individuals die before or soon after birth, and very few survive beyond the first year of life.
This is caused by an extra copy of all chromosomes. Abnormalities are often present in both the placenta and the fetus. It is found in about 1 in 1000 first trimester pregnancies¹; most babies with triploidy are miscarried or stillborn. Of those rare babies born alive, most die before one year of age. Mothers carrying a baby with triploidy can also experience various pregnancy complications such as pre-eclampsia, severe nausea, excessive bleeding, and rarely persistent placental disease.
Also called Turner Syndrome or 45, X. This is caused by a missing copy of the X chromosome. Girls with Monosomy X may have heart defects, hearing problems, minor learning disabilities and are usually shorter than average. As adults they are often infertile.
Also called 47, XXY. This is caused by an extra copy of the X chromosome in boys. Boys with Klinefelter syndrome may have learning disabilities, tend to be taller than average, and most men with this condition are infertile.
Also known as 47, XXX. This is caused by an extra copy of the X chromosome in girls. Some girls with triple X syndrome have learning disabilities, and most are taller than average.
Also called Jacob’s syndrome or 47, XYY. This is caused by an extra copy of the Y chromosome, and only affects boys. Boys with this condition tend to be taller than average and may have associated mild learning and behavioral difficulties.
Also called DiGeorge syndrome. Babies born with 22q11.2 deletion syndrome often have heart defects, low blood calcium levels, immune system problems, and mild to moderate intellectual disability. They may also have kidney problems, feeding problems, and/or seizures.