Whole exome and whole genome sequencing Mary E. Norton Introduction Historically, prenatal diagnosis has focused on detection of chromosomal abnormalities, particularly trisomy 21. Chromosomal microarray analysis (CMA) now provides higher-resolution…
Maternal plasma cell-free DNA screening Integration into clinical practice Howard Cuckle and Peter Benn Introduction Maternal plasma cell-free (cf) DNA testing is more effective in screening for Down, Edwards, and…
Maternal plasma cell-free DNA screening Basic science and applications Peter Benn and Howard Cuckle Introduction In 1997, Lo and colleagues reported that plasma from pregnant women carrying male fetuses contained…
