Prenatal Screening for 22q11.2 Deletion Using a Targeted Microarray-Based Cell-Free DNA Test

Targeted capture enrichment assay for non-invasive prenatal testing of large and small size sub-chromosomal deletions and duplications

(2017) Maria C. Neofytou et al.   PLoS One

Limited Clinical Utility of Non-invasive Prenatal Testing for Subchromosomal Abnormalities

(2016) Kitty K. Lo et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics

(2016) Anthony R. Gregg et al.   GENETICS IN MEDICINE

Clinical experience with single-nucleotide polymorphism-based non-invasive prenatal screening for 22q11.2 deletion syndrome

(2016) S. J. Gross et al.   ULTRASOUND IN OBSTETRICS & GYNECOLOGY

Noninvasive prenatal testing for 22q11.2 deletion syndrome: deeper sequencing increases the positive predictive value

(2015) Susan J. Gross et al.   AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY

Expanding the scope of noninvasive prenatal testing: detection of fetal microdeletion syndromes

(2015) Ronald J. Wapner et al.   AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY

Cell-free DNA Analysis for Noninvasive Examination of Trisomy

(2015) Mary E. Norton et al.   NEW ENGLAND JOURNAL OF MEDICINE

Committee Opinion No. 640

(2015)   OBSTETRICS AND GYNECOLOGY

Current Status of Testing for Microdeletion Syndromes and Rare Autosomal Trisomies Using Cell-Free DNA Technology

(2015) Yuval Yaron et al.   OBSTETRICS AND GYNECOLOGY

Clinical performance of non-invasive prenatal testing (NIPT) using targeted cell-free DNA analysis in maternal plasma with microarrays or next generation sequencing (NGS) is consistent across multiple controlled clinical studies

(2015) Renee Stokowski et al.   PRENATAL DIAGNOSIS

Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnancies

(2015) Francesca Romana Grati et al.   PRENATAL DIAGNOSIS

Clinical outcome of subchromosomal events detected by whole-genome noninvasive prenatal testing

(2015) J. Helgeson et al.   PRENATAL DIAGNOSIS

Analysis of cell-free DNA in maternal blood in screening for fetal aneuploidies: updated meta-analysis

(2015) M. M. Gil et al.   ULTRASOUND IN OBSTETRICS & GYNECOLOGY

Microarray-Based Cell-Free DNA Analysis Improves Noninvasive Prenatal Testing

(2014) Kara Juneau et al.   FETAL DIAGNOSIS AND THERAPY

Theoretical performance of non-invasive prenatal testing for chromosome imbalances using counting of cell-free DNA fragments in maternal plasma

(2014) Peter Benn et al.   PRENATAL DIAGNOSIS

Noninvasive prenatal detection and selective analysis of cell-free DNA obtained from maternal blood: evaluation for trisomy 21 and trisomy 18

(2012) Andrew B. Sparks et al.   AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY

Digital PCR Analysis of Maternal Plasma for Noninvasive Detection of Sickle Cell Anemia

(2012) A. N. Barrett et al.   CLINICAL CHEMISTRY

Chromosomal Microarray versus Karyotyping for Prenatal Diagnosis

(2012) Ronald J. Wapner et al.   NEW ENGLAND JOURNAL OF MEDICINE

Selective analysis of cell-free DNA in maternal blood for evaluation of fetal trisomy

(2012) Andrew B. Sparks et al.   PRENATAL DIAGNOSIS

Practical Guidelines for Managing Patients with 22q11.2 Deletion Syndrome

(2011) Anne S. Bassett et al.   JOURNAL OF PEDIATRICS