Non-invasive prenatal testing (NIPT) can now be offered, via the National Genomic Test Directory’s R445 pathway, to anyone who has previously had any pregnancy or child diagnosed with full trisomy 21 (Down syndrome), 18 (Edward syndrome) or 13 (Patau syndrome).

The Generation Study aims to recruit 100,000 newborn babies and screen them for over 200 genetic conditions. Recruitment began in 2024 and the study is currently scheduled to run until March 2027.

In around 2%–5% of couples who experience recurrent miscarriage, there is a genetic cause. This is most commonly a balanced structural chromosomal anomaly, often a balanced translocation.

A genetic condition can happen for the first time in a pregnancy or child, or can arise as a result of changes in the genetic code of either parent.

For some pregnancies presenting with a short femur there will be a genetic cause.

Haemoglobin conditions, such as sickle cell disease and thalassaemia, are often detected during pregnancy or soon after birth. Pregnant women with, or carriers of, the condition may benefit from genomic testing.

For many women, a previous stillbirth may raise questions years later because they were never given a specific reason for it. They may wish to undertake genomic testing to gain closure and move forward with any future pregnancies.

Orofacial clefts include cleft lip and/or palate. Some cases may be detected on ultrasound. Orofacial clefts are common and often occur sporadically, especially if isolated. Other cases may be part of a wider phenotype, and have an underlying genomic cause.

There will be a genetic cause for some cases of intrauterine death (IUD) or stillbirth.

Where couples are diagnosed with, or are carriers of, autosomal recessive conditions, considering the wider family history can help in the management of any ongoing or future pregnancies.