The current procedure for pre-natal screening for Down’s Syndrome is the standard combined blood test and ultrasound offered to all women. Women identified as having a greater than 1 in 150 chance of having an affected pregnancy are then offered an invasive test to give a diagnosis. Many women opt out of this invasive test because it carries a risk of miscarriage at approximately 1%.
The UK National Screening Committee (UKNSC) have been consulting on whether to introduce a new non invasive prenatal test (NIPT) for women in the same risk category for Down’s syndrome, Edwards’ Syndrome (trisomy 18) and Patau’s syndrome (trisomy 13) as those that are currently offered an invasive test. This test would sit between the combined blood test and ultrasound, and the invasive diagnostic test.
We support the UKNSC’s recommendation that this should be implemented as it will give couples greater autonomy in whether to have prenatal tests without the risk of miscarriage. It is expected that the number of women opting to have the NIPT will be much higher than those that currently undergo invasive testing. However, the rate of miscarriage, and the proportion of women undergoing invasive testing who have an unaffected pregnancy will go down.