Natera has introduced a non-invasive prenatal test (NIPT), Fetal Focus, specifically designed for inherited conditions.
According to the company, when a pregnant individual is found to carry a recessive single-gene condition, it is standard practice to test the partner to assess the risk to the unborn child.
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Fetal Focus has been developed for cases where a pregnant individual has been identified as a carrier for one of the top five routinely screened genes through Natera’s Horizon carrier screening, and the biological father’s genetic information is not accessible.
The test operates by analysing a sample of the mother’s blood to screen the foetus directly for the identified gene.
The solution is claimed to be validated for analysing five genes associated with conditions such as spinal muscular atrophy, cystic fibrosis, alpha-thalassemia, and beta-hemoglobinopathies, including sickle cell disease.
The introduction of the test is underpinned by data from the blinded, prospective EXPAND study, which began in 2023.
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By GlobalDataThe trial has so far enrolled around 1,300 subjects from a multi-ethnic, diverse background across various academic medical centres and maternal foetal medicine clinics.
The first milestone from the trial showed that the test has a 91% sensitivity rate and detected all five foetuses affected by homozygous variants in a subset of 101 participants.
Detecting homozygous cases, where the foetus will inherit the same variant from both parents, poses a particular challenge. To address this, Fetal Focus leverages the company’s LinkedSNP technology, which enhances the identification of such cases in diverse populations.
Natera’s women’s health medical affairs senior vice-president Sheetal Parmar said: “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 EXPAND study has been underway for several years, and we’re pleased to release this first milestone readout.”
The company recently started the Phase II TEODOR trial for its Signatera test, which aims to evaluate the replacement of chemotherapy with endocrine therapy before surgery in certain breast cancer patients.
