Natera Introduces Prenatal Test for Inherited Conditions

Natera Inc. has launched Fetal Focus, a noninvasive prenatal test (NIPT) for inherited conditions. The test is validated to analyze five genes: CFTR (cystic fibrosis), SMN1 (spinal muscular atrophy), HBA1 and HBA2 (alpha-thalassemia), and HBB (beta-hemoglobinopathies, including sickle cell disease).

When a pregnant patient is identified as a carrier of a recessive single-gene condition, medical guidelines recommend partner testing to determine risk for the baby;¹ however, in some cases the biological father is unavailable for testing. Fetal Focus is designed to address this unmet need. If a pregnant patient now tests positive with Natera’s Horizon carrier screen for one of the five most commonly tested genes, and the father is unavailable for testing, Fetal Focus can screen the fetus directly for that gene by simply analyzing a sample of the mother’s blood.

“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 John Williams, M.D., chief principal investigator for the EXPAND trial and director of reproductive genetics at Cedars-Sinai.

The launch is supported by data from EXPAND, a large, prospective, blinded clinical trial. Initiated in 2023, the study has enrolled approximately 1,300 participants to date, reflecting a diverse, multi-ethnic population from academic medical centers and maternal fetal medicine clinics. EXPAND aims to be the defining clinical trial in the category, with all outcomes, including both positive and negative results, confirmed by genetic truth using prenatal or postnatal diagnostic testing.

In its first milestone readout (n=101) from EXPAND, the Fetal Focus test demonstrated 91% sensitivity and successfully identified 5/5 fetuses affected by homozygous variants.^2,3 Homozygous cases, where the fetus inherits the same condition-causing variant from both parents, are especially challenging to detect. Fetal Focus uses Natera’s proprietary LinkedSNP technology to improve detection of these cases across diverse populations.

“Fetal Focus adds another offering within our 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, 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.”

Natera is a global developer of cell-free DNA and genetic testing, dedicated to oncology, women’s health, and organ health. The company aims to make personalized genetic testing and diagnostics part of the standard-of-care to protect health and inform earlier, more targeted interventions that help lead to longer, healthier lives. Natera’s tests are supported by more than 300 peer-reviewed publications that demonstrate excellent performance. Natera operates ISO 13485-certified and CAP-accredited laboratories certified under the Clinical Laboratory Improvement Amendments (CLIA) in Austin, Texas, and San Carlos, Calif.

References
¹ ACOG Committee Opinion #690, Mar 2017.
² Internal data on file. In EXPAND, the study participants and investigators are blinded to the Fetal Focus™ test results.
³ EXpanding Prenatal Cell Free DNA Screening Across MoNogenic Disorders (EXPAND). https://clinicaltrials.gov/study/NCT06808880. Accessed July 2025.