What genetic tests are available during pregnancy?

The NHS offers screening tests during pregnancy to check for certain conditions in the baby. The combined test (at 10-14 weeks) checks for Down syndrome, Edwards syndrome, and Patau syndrome using a blood test and ultrasound. If the screening suggests a higher chance, you will be offered diagnostic tests such as amniocentesis or chorionic villus sampling (CVS). These carry a small risk of miscarriage (less than 1%).

I had the combined screening at 12 weeks. The blood test and scan together are completely safe — there is no risk. It was only if I needed the follow-up amniocentesis that there would be a small risk. The screening is optional, and the results give you a probability, not a definitive answer. Take time to discuss with your partner and midwife what you would want to do with the information before deciding.

This is an important congenital disorders question. We recommend speaking with your GP for personalised advice. You can also contact NHS 111 (free, 24/7) for urgent guidance, or visit nhs.uk for trusted health information. Please note: this is general health information, not a substitute for professional medical advice.