hrp0089pl8 | Turner syndrome: new insights from prenatal genomics and transcriptomics | ESPE2018

Turner Syndrome: New Insights from Prenatal Genomics and Transcriptomics

Bianchi Diana

Prior to the clinical and commercial introduction of noninvasive prenatal testing (NIPT) by sequencing of maternal plasma cell-free DNA in 2011, most fetuses with Turner syndrome were detected by sonographic findings related to lymphedema or incidentally. NIPT, however, has transformed prenatal genetic screening, and an estimated 4–6 million tests have been performed worldwide. In the maternal plasma sample there is both maternal and placental cell-free DNA. Following a s...