Non-invasive prenatal diagnosis of Duchenne and Becker muscular dystrophies by relative haplotype dosage

Haplotype-based approach for noninvasive prenatal tests of Duchenne muscular dystrophy using cell-free fetal DNA in maternal plasma

(2015) Yan Xu et al.   GENETICS IN MEDICINE

Non-invasive prenatal diagnosis for cystic fibrosis: detection of paternal mutations, exploration of patient preferences and cost analysis

(2015) Melissa Hill et al.   PRENATAL DIAGNOSIS

Non-invasive prenatal diagnosis of achondroplasia and thanatophoric dysplasia: next-generation sequencing allows for a safer, more accurate, and comprehensive approach

(2015) Lyn S. Chitty et al.   PRENATAL DIAGNOSIS

Noninvasive prenatal screening for fetal trisomies 21, 18, 13 and the common sex chromosome aneuploidies from maternal blood using massively parallel genomic sequencing of DNA

(2014) Richard P. Porreco et al.   AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY

Clinical experience and follow-up with large scale single-nucleotide polymorphism–based noninvasive prenatal aneuploidy testing

(2014) Pe'er Dar et al.   AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY

Non-invasive prenatal diagnosis: progress and potential

(2014) Rebecca Daley et al.   Archives of Disease in Childhood-Fetal and Neonatal Edition

Prenatal screening for Down syndrome in Australia: Costs and benefits of current and novel screening strategies

(2014) Peter O'Leary et al.   AUSTRALIAN & NEW ZEALAND JOURNAL OF OBSTETRICS & GYNAECOLOGY

Attitudes of pregnant women and male partners towards non-invasive prenatal testing and widening the scope of prenatal screening

(2014) Rachèl V van Schendel et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Haplotype-based approach for noninvasive prenatal diagnosis of congenital adrenal hyperplasia by maternal plasma DNA sequencing

(2014) Dingyuan Ma et al.   GENE

Noninvasive Prenatal Diagnosis of Congenital Adrenal Hyperplasia Using Cell-Free Fetal DNA in Maternal Plasma

(2014) Maria I. New et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Next generation sequencing of SNPs for non-invasive prenatal diagnosis: challenges and feasibility as illustrated by an application to β-thalassaemia

(2013) Thessalia Papasavva et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

High-Throughput Massively Parallel Sequencing for Fetal Aneuploidy Detection from Maternal Plasma

(2013) Taylor J. Jensen et al.   PLoS One

Initial clinical laboratory experience in noninvasive prenatal testing for fetal aneuploidy from maternal plasma DNA samples

(2013) Tracy Futch et al.   PRENATAL DIAGNOSIS

The clinical implementation of non-invasive prenatal diagnosis for single-gene disorders: challenges and progress made

(2013) Nicholas Lench et al.   PRENATAL DIAGNOSIS

The impact of maternal plasma DNA fetal fraction on next generation sequencing tests for common fetal aneuploidies

(2013) Jacob A. Canick et al.   PRENATAL DIAGNOSIS

Non-Invasive Chromosomal Evaluation (NICE) Study: results of a multicenter prospective cohort study for detection of fetal trisomy 21 and trisomy 18

(2012) Mary E. Norton et al.   AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY

Noninvasive Prenatal Diagnosis of Monogenic Diseases by Targeted Massively Parallel Sequencing of Maternal Plasma: Application to  -Thalassemia

(2012) K.-W. G. Lam et al.   CLINICAL CHEMISTRY

Implementing noninvasive prenatal fetal sex determination using cell-free fetal DNA in the United Kingdom

(2012) Melissa Hill et al.   EXPERT OPINION ON BIOLOGICAL THERAPY

Non-invasive prenatal diagnosis of single-gene disorders from maternal blood

(2012) Ana Bustamante-Aragonés et al.   GENE

Genome-Wide Fetal Aneuploidy Detection by Maternal Plasma DNA Sequencing

(2012) Diana W. Bianchi et al.   OBSTETRICS AND GYNECOLOGY

Noninvasive detection of fetal trisomy 21 by sequencing of DNA in maternal blood: a study in a clinical setting

(2011) Mathias Ehrich et al.   AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY

Noninvasive prenatal diagnosis of hemophilia by microfluidics digital PCR analysis of maternal plasma DNA

(2011) N. B. Y. Tsui et al.   BLOOD

DNA sequencing of maternal plasma to detect Down syndrome: An international clinical validation study

(2011) Glenn E. Palomaki et al.   GENETICS IN MEDICINE

Noninvasive Fetal Sex Determination Using Cell-Free Fetal DNA

(2011) Stephanie A. Devaney et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Implementing Prenatal Diagnosis Based on Cell-Free Fetal DNA: Accurate Identification of Factors Affecting Fetal DNA Yield

(2011) Angela N. Barrett et al.   PLoS One

Fetal RHD genotype detection from circulating cell-free fetal DNA in maternal plasma in non-sensitized RhD negative women

(2011) Allan T. Bombard et al.   PRENATAL DIAGNOSIS

Update on Procedure-Related Risks for Prenatal Diagnosis Techniques

(2010) Ann Tabor et al.   FETAL DIAGNOSIS AND THERAPY

Best Practice Guidelines on molecular diagnostics in Duchenne/Becker muscular dystrophies

(2010) Stephen Abbs et al.   NEUROMUSCULAR DISORDERS

Maternal Plasma DNA Sequencing Reveals the Genome-Wide Genetic and Mutational Profile of the Fetus

(2010) Y. M. D. Lo et al.   Science Translational Medicine

Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase

(2009) Sylvie Tuffery-Giraud et al.   HUMAN MUTATION

Microfluidics Digital PCR Reveals a Higher than Expected Fraction of Fetal DNA in Maternal Plasma

(2008) F. M. F. Lun et al.   CLINICAL CHEMISTRY

Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma

(2008) R. W. K. Chiu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Non-invasive prenatal diagnosis and determination of fetal Rh status

(2008) C. Ellen van der Schoot et al.   Seminars in Fetal & Neonatal Medicine