Double marker test results — normal or risky?
The double marker test is a first-trimester screening test. It combines two blood markers (PAPP-A and free beta-hCG) with the nuchal translucency measurement on ultrasound to estimate the chance of certain chromosomal conditions, mainly Down syndrome (Trisomy 21) and Edwards syndrome (Trisomy 18). The result is a risk estimate, not a diagnosis. It comes back as screen positive or screen negative. A screen positive result means the chance is higher than a set threshold — it does not mean your baby has the condition. Most people with a screen positive result go on to have an unaffected baby. If your result is screen positive, there are two different kinds of next step, and the distinction matters: NIPT (non-invasive prenatal testing) is a more accurate screening test. It refines the risk estimate, sometimes dramatically. But it is still a screening test. A reassuring NIPT result lowers the probability — it cannot rule the condition out. CVS or amniocentesis are diagnostic tests. They examine the baby's chromosomes directly and give a definitive answer. Only these can confirm or exclude a diagnosis. They carry a small procedure-related risk of miscarriage, which your specialist will discuss with you. Please have your specific result interpreted by your obstetrician or a foetal medicine specialist. The numbers only mean something in the context of your age, gestation, and scan findings — and the right next step depends partly on what you would want to do with the answer.
Review by Fertility Connect Medical Team Pending
Last reviewed: 17 August 2026
This information is general and does not replace advice from your own clinician.