The new noninvasive prenatal test addresses testing gaps when biological fathers are unavailable for carrier screening by analyzing fetal DNA from maternal blood samples.
Natera Inc has launched Fetal Focus, a noninvasive prenatal test that screens fetuses directly for inherited conditions when the biological father is unavailable for partner testing following positive carrier screening results.
The test addresses an unmet clinical need in prenatal care. When a pregnant patient tests positive as a carrier for a recessive single-gene condition, medical guidelines recommend partner testing to determine fetal risk. However, biological fathers are sometimes unavailable for testing, creating a diagnostic gap.
Fetal Focus analyzes cell-free DNA from a maternal blood sample to screen the fetus for variants in five genes: CFTR (cystic fibrosis), SMN1 (spinal muscular atrophy), HBA1 and HBA2 (alpha-thalassemia), and HBB (beta-hemoglobinopathies, including sickle cell disease). The test is designed for use when patients test positive on Natera’s Horizon carrier screen for one of these conditions.
Clinical Validation Data
The launch is supported by data from EXPAND, a prospective, blinded clinical trial initiated in 2023 that has enrolled approximately 1,300 participants from academic medical centers and maternal fetal medicine clinics. The study reflects a diverse, multi-ethnic population, with all outcomes confirmed by genetic truth using prenatal or postnatal diagnostic testing.
In the first milestone readout from 101 participants, Fetal Focus demonstrated 91% sensitivity and successfully identified all five fetuses affected by homozygous variants. Homozygous cases, where the fetus inherits the same condition-causing variant from both parents, present particular detection challenges.
The test uses Natera’s proprietary LinkedSNP technology to improve detection of homozygous cases across diverse populations.
“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,” says John Williams, MD, chief principal investigator for EXPAND and director of reproductive genetics at Cedars-Sinai, in a release.
Portfolio Expansion
The launch expands Natera’s reproductive health testing portfolio and represents the company’s continued focus on addressing clinical care gaps through validated testing solutions.
“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,” says Sheetal Parmar, MS, CGC, senior vice president of medical affairs for women’s health at Natera, in a release.
Natera operates ISO 13485-certified and CAP-accredited laboratories certified under CLIA in Austin, Texas, and San Carlos, California. The company’s tests are supported by more than 300 peer-reviewed publications.
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