Isochromosome 21q is overrepresented among false-negative cell-free DNA prenatal screening results involving Down syndrome

• Published in: European journal of human genetics : EJHG Vol. 26; no. 10; pp. 1490 - 1496
• Main Authors: Huijsdens-van Amsterdam, Karin, Page-Christiaens, Lieve, Flowers, Nicola, Bonifacio, Michael D, Ellis, Katie M Battese, Vogel, Ida, Vestergaard, Else Marie, Miguelez, Javier, de Carvalho, Mario Henrique Burlacchini, Sistermans, Erik A, Pertile, Mark D
• Format: Journal Article
• Language: English
• Published: England Nature Publishing Group 01.10.2018; Springer International Publishing
• Subjects: Cell-Free Nucleic Acids - genetics; Children; Chromosomes, Human, Pair 21 - genetics; Deoxyribonucleic acid; DNA; Down syndrome; Down Syndrome - diagnosis; Down Syndrome - genetics; Down Syndrome - pathology; Down's syndrome; Female; Fetuses; Genetic screening; Humans; Isochromosomes; Isochromosomes - genetics; Karyotyping; Mosaicism; Placenta; Placenta - cytology; Pregnancy; Prenatal diagnosis; Prenatal Diagnosis - standards; Trisomy

False-negative cell-free DNA (cfDNA) screening results involving Down syndrome are rare, but have high clinical impact on patients and their healthcare providers. Understanding the biology behind these results may allow for improved diagnostic follow-up and counseling. In 5 different centers offerin...