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Blood test can find thousands of genetic conditions in pregnancy, say scientists

Blood test can find thousands of genetic conditions in pregnancy, say scientists

Summary

Scientists have developed a new blood test for pregnant women that can detect thousands of serious genetic conditions in the unborn baby without invasive procedures. This test reads small pieces of the baby's DNA from the mother's blood and could reduce the need for riskier tests like amniocentesis.

Key Facts

  • The test is called non-invasive fetal sequencing (NIFS).
  • It detects DNA fragments from the fetus circulating in the mother's blood.
  • NIFS can identify more than 2,500 genes related to genetic disorders.
  • The test found conditions like cystic fibrosis, Noonan syndrome, and achondroplasia in studies.
  • NIFS detected 95-99% of genetic variants found by invasive tests like amniocentesis.
  • Traditional invasive tests carry a small risk of miscarriage (about 1 in 200).
  • The test was validated on 565 pregnancies at around 17 weeks.
  • Experts say the test could change prenatal care by making genetic diagnosis safer and more common but warn it might also cause stress if unclear results appear.
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