Validation of a SNP-based non-invasive prenatal test to detect the fetal 22q11.2 deletion in maternal plasma samples

Confined placental mosaicism for 22q11.2 deletion as the etiology for discordant positive NIPT results

(2017) M. Bunnell et al.   PRENATAL DIAGNOSIS

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

Clinical validation of a noninvasive prenatal test for genomewide detection of fetal copy number variants

(2016) Roy B. Lefkowitz et al.   AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY

Cell-free DNA testing for 22q11.2 deletion syndrome: appraising the viability, effectiveness and appropriateness of screening

(2016) L. Hui   ULTRASOUND IN OBSTETRICS & GYNECOLOGY

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

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

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

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

22q11.2 deletion syndrome

(2015) Donna M. McDonald-McGinn et al.   Nature Reviews Disease Primers

Prevalence of hypocalcaemia and its associated features in 22q11·2 deletion syndrome

(2014) Evelyn Ning Man Cheung et al.   CLINICAL ENDOCRINOLOGY

Neonatal hypocalcemia, neonatal seizures and intellectual disability in 22q11.2 deletion syndrome

(2013) Evelyn Ning Man Cheung et al.   GENETICS IN MEDICINE

Noninvasive prenatal testing: the paradigm is shifting rapidly

(2013) Lyn S. Chitty et al.   PRENATAL DIAGNOSIS

Chromosomal Microarray versus Karyotyping for Prenatal Diagnosis

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

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

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