What are my current testing options?

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.

About Us

Genesis Genetics is the pioneer of preimplantation testing of embryos for inherited genetic abnormalities, and was founded by world renowned scientists largely responsible for discovering preimplantation genetic diagnosis (PGD) as a clinical practice and performed the first successful cases in the world.


Contact Genesis Genetics

London Biosciences Innovation Centre
London NW1 0NH
Phone: +44 (0)20 7691 2084
Email: ggeulab1@genesisgenetics.org
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