The Genesis Serenity Test
The Genesis Serenity prenatal test uses verifi® test technology developed by Illumina, the world largest DNA sequencing company. The Genesis Serenity prenatal test measures genetic material (or DNA) from a pregnant woman’s blood to look for too few or too many copies of chromosomes in the mother and baby.
Missing or extra copies of chromosomes are referred to as “aneuploidies” and may be related to conditions in pregnancy where an extra chromosome is present such as trisomy 21 (Down syndrome), trisomy 18 (Edwards syndrome), or trisomy 13 (Patau syndrome). The test can also look for other conditions caused by missing and extra copies of other types of chromosomes, called sex chromosomes (X and Y). Sex chromosome aneuploidies are conditions in which there is a change from the usual 2 copies of sex chromosomes in males (XY) or females (XX). All of these conditions may cause mental or physical defects, with different levels of severity. This test is available for singleton and twin pregnancies.
How is the Genesis Serenity prenatal test performed?
A sample of your blood is drawn and the genetic material is tested. The Verifi test uses DNA sequencing to count the number of copies of all chromosomes, and then uses a calculation method to determine if there are too many or too few copies of chromosomes 13,18, 21, X, Y present in your fetus.
What are my current testing options?
There are various screening and diagnostic options available for the common chromosomal conditions. Current screening options can tell you the chance (for example, 1 in 50 or 1 in 5000) of your pregnancy having a certain chromosome problem, but they do not provide a definitive answer. Current invasive procedures (such as a CVS or amniocentesis) can provide a more definitive answer, but they have a small risk of complications, including miscarriage and are performed later in pregnancy.
NHS Down’s screening tests
The NHS does offer Downs screening test however these Quadruple blood screening tests (which looks for specific proteins in the blood) are quite inaccurate both in the number of false positive and particularly false negative results they produce. Quadruple blood tests are available from 14-20wks and produce a “low risk/screen negative” or “high risk/screen positive” result. In the UK the test cut off for low/high risk is 1:150 meaning that 1 in 150 pregnancies will result in a Downs syndrome baby.
How do I know if this test is right for me?
This test is usually offered to pregnant women identified by their doctor to have a chance of fetal aneuploidy. The Genesis Serenity test offers a new choice to women to have information about their pregnancy, as accurately as possible from a simple blood draw, no risk to their pregnancy.
This screening test may be an option for you to consider if:
•You have a confirmed singleton or twin pregnancy of at least 10 weeks gestational age, and meet any of the following criteria:
•You are considered to be of advanced maternal age (35 years or older (singleton pregnancy) or 32 years or older (twin pregnancy) at time of delivery)
•You have an abnormal or “positive” serum screen
•Your ultrasound shows concerns or abnormalities with fetal growth and/or development
•You have a personal or family history of chromosomal aneuploidies for trisomies 21, 18, 13, or other sex chromosome aneuploidies
What are the advantages of the Genesis Serenity prenatal test?
In comparison to other testing options, the Genesis Serenity prenatal test provides more accurate information than calculating chances (risk scores), and does not carry the risk of complications that an invasive procedure can have. It also:
•Uses just a simple, single blood draw from your arm
•Can be performed as early as 10 weeks
•Tests for trisomies 21, 18, and 13
•Tests for sex chromosome conditions (for singleton pregnancies) or the presence of a Y chromosome (for twin pregnancies) if ordered by your healthcare provider as an option.
How do I know the Genesis Serenity prenatal test is effective?
Recently the first NIPT randomised control clinical trial was reported in the prestigious New England Journal of Medicine titled “DNA sequencing versus standard prenatal aneuploidy screening” by Bianchi et al (NEJM, Feb 27th 2014, volume 370, number 9). The paper showed how the verifi® prenatal test was used to look at 1914 women of all risk groups, for trisomies 21 and 18, reporting that “the false positive rates with cfDNA (verifi®) testing were significantly lower than those with standard screening (0.3% vs. 3.6% for trisomy 21, P<0.001; and 0.2% vs. 0.6% for trisomy 18, P = 0.03)”. In this group of patients verifi® also successfully detected trisomy 13, 18 and 21 in all cases with confirmed trisomies. Finally “positive predictive values for cfDNA (verifi®) testing versus standard screening were 45.5% versus 4.2% for trisomy 21 and 40.0% versus 8.3% for trisomy 18″. The New England Journal of Medicine editorial concluded “the significantly and substantively lower false positive rates with cfDNA (verifi®) screening than with standard screening, augurs well for pregnant women and their foetuses”.
Do normal Genesis Serenity prenatal test results mean that my baby will be perfectly healthy?
No test can guarantee a baby will not have any medical issues. The Genesis Serenity prenatal test only tests for aneuploidies of chromosomes 21, 18, 13, and sex chromosomes, if ordered. It does not test for all genetic and non-genetic problems that may be present in a baby. If the test result is “No aneuploidy detected”, indicating a negative result, it does not completely rule out all potential problems with chromosomes 21, 18, and 13, or all sex chromosome aneuploidies in your baby.
The Genesis Serenity prenatal test is a highly accurate advanced screening test that is non-invasive. Genetic counselling after testing positive is recommended. Results of “Aneuploidy Detected” or “Aneuploidy Suspected” are considered positive and patients should be offered invasive prenatal procedures for confirmation.
A negative test does not ensure an unaffected pregnancy. Chorionic villus sampling and amniocentesis provide definitive diagnostic information, but the invasive nature of these procedures can give rise to concern among some patients
What do my Genesis Serenity test results mean?
Your results will tell your doctor whether or not trisomies 21, 18, 13 or sex chromosome abnormalities (if these were ordered) are highly suspected in this pregnancy. In the case of a positive result, your doctor may discuss what the results mean to you and your fetus as well as further testing options for your pregnancy. Your test report will include one of three possible results for chromosomes 21, 18, and 13:
1) No Aneuploidy Detected test result means that this test identified the expected number of copies of chromosomes reported.
2) An Aneuploidy Detected test result means that this test identified too many or too few copies of one of the chromosomes as seen on the report. This can indicate either a trisomy or a sex chromosome aneuploidy.
3) An Aneuploidy Suspected test result means that this test identified more copies than expected of the chromosomes reported. This means that your provider should follow up on this result to obtain more information.
Sex chromosomes will be reported as No Aneuploidy Detected, or Aneuploidy Detected.
In the case of a twin pregnancy, the Y chromosome presence will be reported as Detected or Not Detected.
What is the cost of the Serenity Test and how do I arrange it
The current cost is £425.00 in total.