Natera has launched Fetal Focus™, a pioneering noninvasive prenatal test (NIPT) that screens for inherited conditions directly from maternal blood samples. This innovative diagnostic addresses a critical clinical gap when biological fathers are unavailable for carrier screening, transforming prenatal genetic testing capabilities.

The Austin-based cell-free DNA testing leader developed Fetal Focus to support pregnant patients who test positive on Natera’s Horizon™ carrier screen but cannot access partner testing. Medical guidelines recommend partner evaluation when carriers are identified, yet this approach often proves impractical in real-world scenarios.

Revolutionary testing approach validates five key genes

Fetal Focus employs Natera’s proprietary LinkedSNP™ technology to analyse five critical genes: CFTR (cystic fibrosis), SMN1 (spinal muscular atrophy), HBA1 and HBA2 (alpha-thalassemia), and HBB (beta-hemoglobinopathies, including sickle cell disease). The test demonstrates particular strength in detecting homozygous variants – challenging cases where fetuses inherit identical condition-causing variants from both parents.

Clinical validation demonstrates robust performance

The launch builds upon compelling data from EXPAND, Natera’s landmark prospective clinical trial involving approximately 1,300 participants across diverse, multi-ethnic populations. In its first milestone readout (n=101), Fetal Focus achieved 91% sensitivity and successfully identified all five fetuses affected by homozygous variants.
“Having access to a noninvasive option like Fetal Focus can provide critical information to support decision-making during pregnancy, especially in situations where partner testing isn’t possible,” said Dr John Williams, EXPAND’s chief principal investigator and director of reproductive genetics at Cedars-Sinai.
Sheetal Parmar, senior vice president of medical affairs for women’s health at Natera, emphasised the product’s clinical significance: “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.”
The test represents a significant advancement in precision prenatal medicine, offering healthcare providers enhanced diagnostic capabilities for inherited condition screening.

• For more information, visit: https://www.natera.com