Prenatal Silver-Russell Syndrome in a Chinese Family Identified by Non-Invasive Prenatal Testing

This study demonstrates that NIPT has the ability to identify submicroscopic copy number variations (CNVs) in fetuses, which in some cases may result from a parent being a balanced rearrangement carrier. Because of the differences in resolution and the various benefits and limitations of each genetic technique, great care must be taken when deciding on which test(s) to employ in family studies.Mol Syndromol
Source: Molecular Syndromology - Category: Molecular Biology Source Type: research