Non-Invasive Prenatal Diagnosis (NIPD)
For couples who have a high risk of having a baby with a specific genetic condition, caused by a known gene mutation (eg. couples who both carry the same recessive gene, or where one member of the couple carries a dominant gene) have traditionally been faced with waiting until at least 12 weeks into the pregnancy to have prenatal diagnosis (to find out if the pregnancy is affected) and this diagnostic test requires an invasive procedure (either CVS or amniocentesis), which puts the pregnancy at a small increased risk of miscarriage.
In certain specific situations, it is now possible to develop a genetic test which can be used on ‘free fetal DNA’ from the pregnant mother’s blood. This is known as Bespoke NIPD. In cases where bespoke NIPD is possible, it allows for a blood test at 10 weeks of pregnancy, which does not put the pregnancy at risk of miscarriage, and gives an earlier result than invasive test methods.
It is important to note that Bespoke NIPD requires a ‘work up’ of the test prior to proceeding, so ideally couples need to see our genetic counsellor prior to pregnancy to arrange this test.
If you would like to discuss with our Genetic Counsellor whether Bespoke NIPD is an option in your situation, please contact us.