Natera’s updated prenatal test now includes Gaucher disease
Screening panel checks 16 more genes using only maternal blood sample
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Expectant parents can now screen for a broader range of inherited conditions, including Gaucher disease, using only a maternal blood sample and Natera‘s updated Fetal Focus test.
The update adds 16 new genes to the panel, enabling the screening of a total of 21 genetic diseases early in pregnancy, even when the father’s DNA is unavailable.
It follows results from the large-scale EXPAND clinical study (NCT06808880). In a recent readout of 193 participants, the test correctly identified 100% of pregnancies where the baby carried a disease-causing mutation in the newly added genes, while correctly ruling out unaffected pregnancies 94% of the time.
“Our goal is to support clinicians and families with actionable information at critical healthcare moments,” Sheetal Parmar, Natera’s senior vice president of medical affairs for women’s health, said in a company press release. “The growing body of blinded, prospective data from EXPAND supports the case for Fetal Focus to fill an important clinical gap, particularly when partner testing is not possible.”
Understanding Gaucher disease and inheritance
Gaucher disease is caused by mutations in the GBA1 gene, which provides instructions for producing an enzyme necessary for breaking down certain fats. When this enzyme is faulty or missing, fatty molecules accumulate in the body’s organs, causing symptoms such as enlarged organs, blood abnormalities, and bone problems. Diagnosis is made using enzyme and genetic tests.
Everyone inherits two copies of the GBA1 gene, one from each parent. Gaucher disease occurs only if both copies of the gene are mutated. Carriers have one mutated copy and show no symptoms, but can pass the gene to their children. Prenatal testing can determine if a baby has inherited any mutated genes, helping parents and doctors make informed decisions and plan care.
Fetal Focus is a noninvasive prenatal test that can detect diseases in which two mutated copies of a gene are required for symptoms to develop, as well as conditions caused by mutations on sex chromosomes. It uses a sample of the mother’s blood to test her baby’s cell-free DNA, which are small fragments of fetal DNA that circulate naturally in the mother’s bloodstream during pregnancy.
Launched in 2023, EXPAND has enrolled more than 1,800 participants from medical centers across the U.S. It is a prospective study, meaning participants are followed over time. Combined with the latest readout, the test correctly identified affected pregnancies 96% of the time and correctly ruled out unaffected pregnancies 98% of the time in a total of 294 samples across all 21 genes.
“The updated panel gives clinicians access to information on a broader range of inherited conditions,” said John Williams, MD, chief principal investigator for EXPAND and director of reproductive genetics at Cedars-Sinai Medical Center in Los Angeles. “These latest results strengthen the evidence base needed for responsible integration of single-gene [noninvasive prenatal testing] into clinical practice.”
