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.
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.
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.
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.