NIPT: screening versus diagnosis in pregnancy

NIPT is a pregnancy screening test analysing cell-free DNA fragments circulating in maternal blood. Some come from the placenta and provide indirect information about certain fetal chromosome conditions. It is commonly used for trisomies 21, 18 and 13; the selected test determines the scope. It does not exclude all genetic or structural conditions.

It may generally be considered from around 10 weeks; gestation, ultrasound and previous results affect suitability. Taking blood does not involve inserting a needle into the pregnancy, but results have limitations. Discuss options regardless of age; choosing or declining testing should be an informed decision. This page does not confirm availability at Nev or a particular price or turnaround time.

A lower-chance result does not guarantee a healthy baby; usual antenatal care continues. A higher-chance result alone is not a diagnosis; discuss genetic counselling and diagnostic options such as amniocentesis or CVS. Sometimes insufficient DNA or technical issues prevent a result; this is not a normal result. Discuss repeat sampling, other investigations or monitoring with your team.

Do not interpret a report using a percentage or online comment alone. False-positive and false-negative results are possible; important decisions need discussion of limitations and confirmation options. NIPT does not assess urgent pregnancy symptoms: do not wait for a report with bleeding, leaking fluid or severe pain; call 112 for fainting, heavy bleeding or severe breathlessness.