New blood test can detect thousands of genetic conditions in pregnancy without invasive procedures
Scientists have developed a maternal blood test called non-invasive fetal sequencing (NIFS) that can detect thousands of serious genetic conditions in a developing fetus with 95–99% accuracy. The test analyzes fragments of fetal DNA circulating in the mother's bloodstream and was validated on 565 pregnancies, identifying variants across nearly 23,000 genes. It could reduce reliance on riskier invasive procedures like amniocentesis, though experts warn that broad screening use could generate anxiety-inducing results of uncertain significance.
Researchers at the Broad Institute of MIT and Harvard have developed a non-invasive fetal sequencing (NIFS) test that uses advanced DNA sequencing of maternal blood to detect thousands of genetic conditions in a fetus, including cystic fibrosis, Noonan syndrome, and achondroplasia. The findings are being presented at the European Society for Human Genetics conference in Gothenburg. In a validation study of 565 pregnancies at an average of 17 weeks gestation, the test identified 95–99% of genetic variants found by invasive methods and more than 97% of clinically relevant variants. Current non-invasive prenatal tests based on fetal DNA are limited to a small number of conditions such as Down's syndrome, while more comprehensive diagnosis has required amniocentesis or chorionic villus sampling — procedures that carry a roughly 1-in-200 risk of miscarriage. Researchers envision NIFS as a frontline tool for pregnancies where an anomaly has already been flagged by ultrasound or other screening. Independent experts praised the technical achievement but cautioned that using the test for broad exploratory screening — rather than targeted diagnosis — could surface genetic variants of unknown significance, potentially causing undue parental anxiety and unnecessary medical intervention.
What's missing
The study has not yet been published in a peer-reviewed journal and is being presented at a conference, so independent replication and full methodological scrutiny are pending. The cost of the test and how healthcare systems would handle the counseling burden of uncertain genetic findings at scale are not addressed.
What different sources said
Blood test can find thousands of genetic conditions in pregnancy, say scientists
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