A new DNA benchmark, developed by NIST and collaborators, enables more accurate detection of genetic variants linked to diseases such as spinal muscular atrophy. The benchmark, based on HiFi sequencing technology, helps labs and clinics sequence genes with high accuracy, critical for disease diagnosis and treatment.
A recent study published in the New England Journal of Medicine found that BGI's NIFTY test outperformed other noninvasive prenatal screening tests. The test correctly detected 81% of cases with nonmosaic karyotypes, while incorrectly identifying 17% of trisomy 21 and XXX/XXY abnormalities as positive.
The American Society of Human Genetics and the European Society of Human Genetics issued a joint position statement on non-invasive prenatal testing (NIPT), exploring its promise and drawbacks. NIPT has improved accuracy and safety in prenatal screening, but raises concerns about over-expansion and loss of ultrasound data.
The American College of Medical Genetics and Genomics has released a policy statement on noninvasive prenatal screening for fetal aneuploidy, highlighting its advantages and limitations. The statement recommends following up positive results with invasive diagnostic tests to avoid patient harm.
Researchers have identified 29 differentially expressed proteins in maternal serum from pregnancies carrying Down syndrome fetuses. These proteins show promise as potential biomarkers for improving the performance of Down syndrome screening, but further clinical verification is needed.
New practice guidelines in Canada recommend prenatal screening for chromosomal abnormalities be offered to all pregnant women. The guidelines aim to balance reproductive autonomy with the potential legal liability of failing to screen, which could harm disabled children.
This article discusses the ethics of selecting for existence, a controversial practice where parents choose not to bring into existence a person with certain characteristics. The discussion highlights concerns over the moral obligations towards individuals with disabilities and implications on social contract theory.
The article discusses invisible disabilities such as chronic pain, depression, and posttraumatic stress disorder. These conditions often go unrecognized or underdiagnosed due to the stigma associated with disability, leading to a lack of support and acceptance for individuals who may be struggling.
Researchers are evaluating a combined-risk assessment method that combines blood protein markers and ultrasonography measurements to predict fetal abnormalities. The test has an estimated detection rate of up to 90% and could lead to earlier diagnosis and reduced invasive procedures.