Introduction Structural malformations, many of which can be diagnosed antenatally, are present in approximately 2%–3% of live births. Fetuses with structural malformations are at increased risk for an underlying genetic disorder, even in the setting of a normal karyotype. The…
Overview Cell-free DNA (cfDNA) screening has been rapidly introduced into prenatal care since it became clinically available in 2011. cfDNA screening can detect more than 99% of cases of trisomy 21 and also has high sensitivity and specificity for the…
The field of prenatal diagnosis, once dominated by amniocentesis and karyotype analysis for advanced maternal age, has changed significantly over the last decade with improved screening technologies reducing the use of diagnostic procedures. Much of this expansion has been associated…