Finally, the two-step approach of prenatal screening potentially followed by invasive diagnosis will be transformed into a one-step procedure. Although the abolishment of invasive PND has some ...

Diagnosis of prenatal-onset skeletal dysplasias can be accomplished by ultrasound evaluation and confirmed by both molecular testing using invasive procedures and postdelivery radiographs and ...

Today, I serve as a co-PI on the large multicenter PrenatalSEQ study which evaluates different aspects of whole genome sequencing for prenatal diagnosis, including detection rates, outcomes, and ...

Genetic testing during pregnancy helps detect chromosomal or genetic conditions like Down syndrome and inherited disorders.

The only alternative until now has been non-invasive prenatal testing (NIPT), but it can assess risk for only about ... Chosen as the cover story of the global journal Prenatal Diagnosis last August, ...

For my clinical translational research, I investigate the benefits and challenges of introducing new genomic technologies, such as arrays, and non-invasive screening into prenatal diagnosis and care.

Additionally, several case reports have described abnormal prenatal cfDNA tests that led to a cancer diagnosis. Turriff and her colleagues wanted to know if the cfDNA test that is now routinely ...