Noninvasive Prenatal Test Detects Inherited Conditions

When a pregnant patient is identified as a carrier of a recessive single-gene condition, guidelines recommend testing the biological father to assess the baby’s risk. However, in some cases, the father is unavailable for testing, leaving an important diagnostic gap. Now, a new prenatal blood-based test can directly assess the fetus for certain inherited conditions, providing a solution in these challenging scenarios.

Natera (Austin, TX, USA) has launched Fetal Focus, a noninvasive prenatal test (NIPT) designed to analyze fetal DNA from a maternal blood sample when paternal testing is not possible. The test is available if the patient tests positive for one of five commonly screened genes on Natera’s Horizon carrier screen. It is validated for CFTR (cystic fibrosis), SMN1 (spinal muscular atrophy), HBA1 and HBA2 (alpha-thalassemia), and HBB (beta-hemoglobinopathies, including sickle cell disease).

The test launch is supported by interim results from EXPAND, a large, prospective, blinded clinical trial initiated in 2023. The trial has enrolled approximately 1,300 participants from a diverse, multi-ethnic population across leading academic medical centers and maternal-fetal medicine clinics. All outcomes, both positive and negative, are confirmed by genetic truth using prenatal or postnatal diagnostic testing.

In the first milestone readout of 101 participants, the test showed 91% sensitivity and successfully identified all five fetuses affected by homozygous variants. These cases, where both parents pass on the same condition-causing variant, are especially difficult to detect. Fetal Focus uses Natera’s proprietary LinkedSNP technology to improve detection of such cases in diverse populations.

The findings demonstrate that the test can address a critical gap in prenatal care by providing reliable, noninvasive risk assessment when partner testing is unavailable. This can help guide pregnancy management decisions, enable earlier interventions, and expand access to important genetic insights.

“Fetal Focus adds another important offering within our comprehensive reproductive health portfolio – furthering our commitment to launching products that address clinical gaps in care and are supported by rigorous clinical validation,” said Sheetal Parmar, M.S., CGC, senior vice president of medical affairs for women’s health at Natera. “The EXPAND study has been underway for several years, and we’re pleased to release this first milestone readout.”

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