Article
Genetic variants account for up to one-third of cases of cerebral palsy
Recent exome sequencing evidence that reveals a genetic etiology in a substantial number of cerebral palsy cases challenges the continuing belief...
Article
2019 Update on prenatal exome sequencing
Prenatal genetic testing is boldly going to the next frontier: exome sequencing. Here, experts consider studies that explore the...
Article
2018 Update on prenatal carrier screening
The benefit of expanded carrier screening over standard testing is not clear. Recent data shed light on advantages and drawbacks of expanded panel...
News
Cell-free DNA screening for women at low risk for fetal aneuploidy
A high sensitivity and specificity and low false-positive rate make cell-free DNA screening an appealing draw for clinicians and patients, even...
News
Does this new evidence for noninvasive prenatal testing to detect fetal aneuploidy move NIPT closer to universal use in pregnancy?
Not without appropriate patient counseling. This prospective, multicenter study of women at high risk for fetal aneuploidy found 100%, 100%, and...