Per Med
September 2023
Over 60% of single-gene diseases in newborns are autosomal dominant variants. Noninvasive prenatal testing for monogenic conditions (NIPT-SGG) is cost-effective and timesaving, but not widely applied. This study introduces and validates NIPT-SGG in detecting 25 monogenic conditions.
View Article and Find Full Text PDFJ Matern Fetal Neonatal Med
December 2023
Hemoglobin
July 2022
Front Oncol
August 2020