Cell-free fetal DNA screening for detection of microdeletion syndromes: a cost-effectiveness analysis

• Published in: The journal of maternal-fetal & neonatal medicine Vol. 34; no. 11; p. 1732
• Main Authors: Avram, Carmen M, Shaffer, Brian L, Sparks, Teresa N, Allen, Allison J, Caughey, Aaron B
• Format: Journal Article
• Language: English
• Published: England 03.06.2021
• Subjects: Aneuploidy; Cell-Free Nucleic Acids; Cost-Benefit Analysis; DNA; Female; Fetus; Humans; Infant, Newborn; Pregnancy; Prenatal Diagnosis; Syndrome; Cell-free DNA; cost-effectiveness; subchromosomal; microdeletions; ultrasound

Fetuses with genetic copy number variants are poorly detected through traditional prenatal screening. Microdeletions and duplications are clearly identified with diagnostic testing through chromosomal microarray, and screening of a select number of microdeletions has become available with cell-free...