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

Safe, accurate, prenatal diagnosis of thanatophoric dysplasia using ultrasound and free fetal DNA

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

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

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

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

Non-invasive prenatal diagnosis for fetal sex determination: benefits and disadvantages from the service users’ perspective

(2012) Celine Lewis et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Early non-invasive detection of fetal Y chromosome sequences in maternal plasma using multiplex PCR

(2012) Aggeliki Kolialexi et al.   European Journal of Obstetrics & Gynecology and Reproductive Biology

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

Ethical considerations for choosing between possible models for using NIPD for aneuploidy detection

(2012) Zuzana Deans et al.   JOURNAL OF MEDICAL ETHICS

Evaluation of a Novel Assay for Detection of the Fetal Marker RASSF1A: Facilitating Improved Diagnostic Reliability of Noninvasive Prenatal Diagnosis

(2012) Helen E. White et al.   PLoS One

Non-invasive prenatal diagnosis of beta-thalassemia and sickle-cell disease using pyrophosphorolysis-activated polymerization and melting curve analysis

(2012) Marion Phylipsen et al.   PRENATAL DIAGNOSIS

Fetal sex determination using cell-free fetal DNA: service users' experiences of and preferences for service delivery

(2012) Celine Lewis et al.   PRENATAL DIAGNOSIS

Circulating trophoblastic cells provide genetic diagnosis in 63 fetuses at risk for cystic fibrosis or spinal muscular atrophy

(2012) Hussein Mouawia et al.   REPRODUCTIVE BIOMEDICINE ONLINE

Fetal fraction in maternal plasma cell-free DNA at 11-13 weeks' gestation: relation to maternal and fetal characteristics

(2012) G. Ashoor et al.   ULTRASOUND IN OBSTETRICS & GYNECOLOGY

High-Throughput Droplet Digital PCR System for Absolute Quantitation of DNA Copy Number

(2011) Benjamin J. Hindson et al.   ANALYTICAL CHEMISTRY

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

(2011) N. B. Y. Tsui et al.   BLOOD

Standardization non-invasive fetal RHD and SRY determination into clinical routine using a new multiplex RT-PCR assay for fetal cell-free DNA in pregnant women plasma: Results in clinical benefits and cost saving

(2011) Hada C. Macher et al.   CLINICA CHIMICA ACTA

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

Restriction Enzyme–Mediated Enhanced Detection of Circulating Cell-Free Fetal DNA in Maternal Plasma

(2011) John A. Tynan et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Quantitative and sensitive detection of rare mutations using droplet-based microfluidics

(2011) Deniz Pekin et al.   LAB ON A CHIP

Reliable Detection of Paternal SNPs within Deletion Breakpoints for Non-Invasive Prenatal Exclusion of Homozygous α0-Thalassemia in Maternal Plasma

(2011) Ti-Zhen Yan et al.   PLoS One

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

Cell-free fetal DNA in specimen from pregnant women is stable up to 5 days

(2011) Sina P. Müller et al.   PRENATAL DIAGNOSIS

Incremental cost of non-invasive prenatal diagnosis versus invasive prenatal diagnosis of fetal sex in England

(2011) Melissa Hill et al.   PRENATAL DIAGNOSIS

Prenatal diagnosis of homozygous alpha-thalassemia-1 by cell-free fetal DNA in maternal plasma

(2011) S. Sirichotiyakul et al.   PRENATAL DIAGNOSIS

Full COLD-PCR Protocol for Noninvasive Prenatal Diagnosis of Genetic Diseases

(2010) S. Galbiati et al.   CLINICAL CHEMISTRY

Quantification of Fetal DNA by Use of Methylation-Based DNA Discrimination

(2010) A. O. H. Nygren et al.   CLINICAL CHEMISTRY

Analysis of the Size Distributions of Fetal and Maternal Cell-Free DNA by Paired-End Sequencing

(2010) H. C. Fan et al.   CLINICAL CHEMISTRY

Non-invasive prenatal determination of fetal sex: translating research into clinical practice

(2010) M Hill et al.   CLINICAL GENETICS

Feasibility of fetal-derived hypermethylated RASSF1A sequence quantification in maternal plasma — Next step toward reliable non-invasive prenatal diagnostics

(2010) L. Zejskova et al.   EXPERIMENTAL AND MOLECULAR PATHOLOGY

Non-invasive prenatal detection of achondroplasia using circulating fetal DNA in maternal plasma

(2010) Ji Hyae Lim et al.   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

Molecular prenatal diagnosis: the impact of modern technologies

(2010) F. Lucy Raymond et al.   PRENATAL DIAGNOSIS

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

New aids for the non-invasive prenatal diagnosis of achondroplasia: dysmorphic features, charts of fetal size and molecular confirmation using cell-free fetal DNA in maternal plasma

(2010) L. S. Chitty et al.   ULTRASOUND IN OBSTETRICS & GYNECOLOGY

Arrayed Primer Extension for the Noninvasive Prenatal Diagnosis of β-Thalassemia Based on Detection of Single Nucleotide Polymorphisms

(2009) Thessalia Papasavva et al.   Annals of the New York Academy of Sciences

The Effect of DYS-14 Copy Number Variations on Extracellular Fetal DNA Quantification in Maternal Circulation

(2009) Ilona Hromadnikova et al.   DNA AND CELL BIOLOGY

Noninvasive prenatal diagnosis of fetal aneuploidies and Mendelian disorders: new innovative strategies

(2009) Sinuhe Hahn et al.   EXPERT REVIEW OF MOLECULAR DIAGNOSTICS

Reliability of Fetal Sex Determination Using Maternal Plasma

(2009) Peter G. Scheffer et al.   OBSTETRICS AND GYNECOLOGY

Noninvasive prenatal diagnosis of early onset primary dystonia I in maternal plasma

(2009) Cathy Meaney et al.   PRENATAL DIAGNOSIS

Prenatal diagnosis of Huntington disease in maternal plasma: direct and indirect study

(2008) A. Bustamante-Aragones et al.   EUROPEAN JOURNAL OF NEUROLOGY

Improvement in strategies for the non-invasive prenatal diagnosis of Huntington disease

(2008) M. Cristina González-González et al.   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

New strategy for the prenatal detection/exclusion of paternal cystic fibrosis mutations in maternal plasma

(2008) Ana Bustamante-Aragones et al.   Journal of Cystic Fibrosis

Prenatal diagnosis in maternal plasma of a fetal mutation causing propionic acidemia

(2008) Ana Bustamante-Aragones et al.   MOLECULAR GENETICS AND METABOLISM

Mathematical Analysis of Copy Number Variation in a DNA Sample Using Digital PCR on a Nanofluidic Device

(2008) Simant Dube et al.   PLoS One

SAFE—TheSpecial Non-invasiveAdvances inFetal and NeonatalEvaluation Network: aims and achievements

(2008) Lyn S. Chitty et al.   PRENATAL DIAGNOSIS

Noninvasive prenatal diagnosis of monogenic diseases by digital size selection and relative mutation dosage on DNA in maternal plasma

(2008) F. M. F. Lun et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA