Prenatal Genetic Testing
This first installment in a 2-part series summarizes the abilities of 4 commercially available technologies for noninvasive prenatal testing.
In a unanimous vote, a Food and Drug Administration (FDA) advisory committee has recommended that the agency give premarket approval to a human papillomavirus (HPV) DNA test as first-line screening for cervical cancer.
Massively parallel sequencing of maternal cell-free DNA (cfDNA testing) has been shown better at predicting fetal aneuploidies than standard screening in a new study among a general obstetric population. Published in The New England Journal of Medicine, the report by the CARE Study group was funded by Illumina.
Instead of invasive procedures such as chorionic villus sampling or amniocentesis, definitive, noninvasive testing for fetal chromosomal abnormalities has long been the "holy grail" in obstetrics. It now appears practical to achieve prenatal genetic diagnosis using cell-free fetal dna in maternal blood.