When the small piece of chromosome 22 associated with DiGeorge syndrome is missing, this can cause developmental abnormalities such as speech and language delays, cleft palate, a faulty immune system and heart defects. Or an apparently healthy baby can be born.
With non-invasive genetic screening on the rise, companies are racing to add chromosomal abnormalities such as that associated with DiGeorge syndrome to the list of disorders for which they can test. But because the effects of these genetic anomalies are sometimes uncertain, the test results may prompt difficult decisions for families.
The tests are a welcome development, says Philippa Brice, communications director of the non-profit PHG Foundation in Cambridge, UK. But she adds, “there is a risk that women may receive early in pregnancy a result they do not fully understand”.
Read the full, original story: Prenatal-screening companies expand scope of DNA tests
- Prenatal DNA Tests Should be New Standard, Study Suggests, MIT Technology Review
- Should Standard Prenatal Screening be Scrapped?, Scientist
- Will new prenatal tests scare parents into bad decisions?, AlJazeera America