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 compared to invasive methods. 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 procedures like amniocentesis, which carry a small but real risk of miscarriage.
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 a broad range of serious genetic conditions in the fetus. 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 amniocentesis or chorionic villus sampling (CVS), and more than 97% of clinically relevant variants. Conditions detected include cystic fibrosis, Noonan syndrome, achondroplasia, and dozens of other rare disorders covered by major panels such as Genomics England's 2,500-gene fetal anomalies panel. Proponents argue the test could serve as a frontline screening tool, particularly when fetal anomalies are flagged by ultrasound, offering an alternative for the many women who decline invasive testing due to miscarriage risk, cost, or access barriers. Independent experts praised the technical achievement but raised concerns that using the test for broad exploratory screening — rather than targeted diagnosis — could surface variants of unknown significance, generating parental anxiety and potentially unnecessary medical interventions. The test is not yet in clinical use and requires further validation before widespread adoption.
What's missing
The study has not yet been published in a peer-reviewed journal and is being presented at a conference, so full methodology and data have not undergone formal peer review. The cost of the test, its regulatory pathway to clinical use, and how variants of unknown significance would be communicated to patients in practice are not addressed.
What different sources said
Blood test can find thousands of genetic conditions in pregnancy, say scientists
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