Considerations for whole exome sequencing unique to prenatal care

A Rigorous Interlaboratory Examination of the Need to Confirm Next-Generation Sequencing–Detected Variants with an Orthogonal Method in Clinical Genetic Testing

(2019) Stephen E. Lincoln et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

High prevalence of cancer‐associated TP53 variants in the gnomAD database: A word of caution concerning the use of variant filtering

(2019) Thierry Soussi et al.   HUMAN MUTATION

Allele-Specific Droplet Digital PCR Combined with a Next-Generation Sequencing-Based Algorithm for Diagnostic Copy Number Analysis in Genes with High Homology: Proof of Concept Using Stereocilin

(2018) Sami S. Amr et al.   CLINICAL CHEMISTRY

Analysis of intragenic USH2A copy number variation unveils broad spectrum of unique and recurrent variants

(2018) Christina A. Austin-Tse et al.   European Journal of Medical Genetics

Rapid prenatal diagnosis using targeted exome sequencing: a cohort study to assess feasibility and potential impact on prenatal counseling and pregnancy management

(2018) Natalie Chandler et al.   GENETICS IN MEDICINE

Importance of complete phenotyping in prenatal whole exome sequencing

(2018) Mahmoud Aarabi et al.   HUMAN GENETICS

Trophoblast retrieval and isolation from the cervix: origins of cervical trophoblasts and their potential value for risk assessment of ongoing pregnancies

(2018) Gerit Moser et al.   HUMAN REPRODUCTION UPDATE

Exploring the Issues Surrounding Clinical Exome Sequencing in the Prenatal Setting

(2018) Swetha Narayanan et al.   Journal of Genetic Counseling

Advances in the prenatal diagnosis of monogenic disorders

(2018) Lyn S. Chitty   PRENATAL DIAGNOSIS

Joint Position Statement from the International Society for Prenatal Diagnosis (ISPD), the Society for Maternal Fetal Medicine (SMFM), and the Perinatal Quality Foundation (PQF) on the use of genome-wide sequencing for fetal diagnosis

(2018) et al.   PRENATAL DIAGNOSIS

cfDNA screening and diagnosis of monogenic disorders - where are we heading?

(2018) Eunice Ka Long Chiu et al.   PRENATAL DIAGNOSIS

Whole exome sequencing as a diagnostic adjunct to clinical testing in fetuses with structural abnormalities

(2018) F. Fu et al.   ULTRASOUND IN OBSTETRICS & GYNECOLOGY

Detecting Expansions of Tandem Repeats in Cohorts Sequenced with Short-Read Sequencing Data

(2018) Rick M. Tankard et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Characterizing reduced coverage regions through comparison of exome and genome sequencing data across 10 centers

(2017) Rashesh V Sanghvi et al.   GENETICS IN MEDICINE

Using high-resolution variant frequencies to empower clinical genome interpretation

(2017) Nicola Whiffin et al.   GENETICS IN MEDICINE

Prenatal exome sequencing in anomalous fetuses: new opportunities and challenges

(2017) Neeta L Vora et al.   GENETICS IN MEDICINE

Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development

(2017) Carin L Yates et al.   GENETICS IN MEDICINE

Whole-exome sequencing for prenatal diagnosis of fetuses with congenital anomalies of the kidney and urinary tract

(2017) Ting-ying Lei et al.   NEPHROLOGY DIALYSIS TRANSPLANTATION

Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels

(2017) Holly LaDuca et al.   PLoS One

Prenatal DNA Sequencing: Clinical, Counseling, and Diagnostic Laboratory Considerations

(2017) Ahmad N. Abou Tayoun et al.   PRENATAL DIAGNOSIS

Promises, pitfalls and practicalities of prenatal whole exome sequencing

(2017) Sunayna Best et al.   PRENATAL DIAGNOSIS

Pathogenic variant burden in the ExAC database: an empirical approach to evaluating population data for clinical variant interpretation

(2017) Yuya Kobayashi et al.   Genome Medicine

Use of Exome Sequencing for Infants in Intensive Care Units

(2017) Linyan Meng et al.   JAMA Pediatrics

Using fetal cells for prenatal diagnosis: History and recent progress

(2016) Arthur L. Beaudet   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit

(2016) Hussein Daoud et al.   CANADIAN MEDICAL ASSOCIATION JOURNAL

Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics

(2016) Sarah S. Kalia et al.   GENETICS IN MEDICINE

Prevalence of maternal cell contamination in amniotic fluid samples

(2016) Jennifer Weida et al.   Journal of Maternal-Fetal & Neonatal Medicine

Practice Bulletin No. 163

(2016)   OBSTETRICS AND GYNECOLOGY

Trophoblast Retrieval and Isolation From the Cervix for Noninvasive, First Trimester, Fetal Gender Determination in a Carrier of Congenital Adrenal Hyperplasia

(2016) Alan D. Bolnick et al.   Reproductive Sciences

Fetal genome profiling at 5 weeks of gestation after noninvasive isolation of trophoblast cells from the endocervical canal

(2016) C. V. Jain et al.   Science Translational Medicine

Altered Biomarkers in Trophoblast Cells Obtained Noninvasively Prior to Clinical Manifestation of Perinatal Disease

(2016) Jay M. Bolnick et al.   Scientific Reports

First applications of a targeted exome sequencing approach in fetuses with ultrasound abnormalities reveals an important fraction of cases with associated gene defects

(2016) Constantinos Pangalos et al.   PeerJ

Points to Consider: Ethical, Legal, and Psychosocial Implications of Genetic Testing in Children and Adolescents

(2015) Jeffrey R. Botkin et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Detection of Fetal Subchromosomal Abnormalities by Sequencing Circulating Cell-Free DNA from Maternal Plasma

(2015) C. Zhao et al.   CLINICAL CHEMISTRY

Clinical implementation of NIPT - technical and biological challenges

(2015) P. Brady et al.   CLINICAL GENETICS

Noninvasive detection of trophoblast protein signatures linked to early pregnancy loss using trophoblast retrieval and isolation from the cervix (TRIC)

(2015) Rani Fritz et al.   FERTILITY AND STERILITY

Clinical application of whole-exome sequencing across clinical indications

(2015) Kyle Retterer et al.   GENETICS IN MEDICINE

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

The Performance of Whole Genome Amplification Methods and Next-Generation Sequencing for Pre-Implantation Genetic Diagnosis of Chromosomal Abnormalities

(2015) Na Li et al.   Journal of Genetics and Genomics

Trophoblast retrieval and isolation from the cervix (TRIC) is unaffected by early gestational age or maternal obesity

(2015) Rani Fritz et al.   PRENATAL DIAGNOSIS

Reproductive genetic counseling challenges associated with diagnostic exome sequencing in a large academic private reproductive genetic counseling practice

(2015) Lauren E. Westerfield et al.   PRENATAL DIAGNOSIS

Exome sequencing for prenatal diagnosis of fetuses with sonographic abnormalities

(2015) Suzanne Drury et al.   PRENATAL DIAGNOSIS

Exome sequencing positively identified relevant alterations in more than half of cases with an indication of prenatal ultrasound anomalies

(2015) Christina L. Alamillo et al.   PRENATAL DIAGNOSIS

Prenatal whole-exome sequencing: parental attitudes

(2015) Eve J. Kalynchuk 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

Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings

(2015) Laurel K Willig et al.   Lancet Respiratory Medicine

Non-invasive prenatal diagnosis: progress and potential

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

Clinical Exome Performance for Reporting Secondary Genetic Findings

(2014) J. Y. Park et al.   CLINICAL CHEMISTRY

Trophoblast retrieval and isolation from the cervix (TRIC) for noninvasive prenatal screening at 5 to 20 weeks of gestation

(2014) Jay M. Bolnick et al.   FERTILITY AND STERILITY

Exome sequencing improves genetic diagnosis of structural fetal abnormalities revealed by ultrasound

(2014) K. J. Carss et al.   HUMAN MOLECULAR GENETICS

Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing

(2014) Yaping Yang et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Comprehensive Diagnostic Testing for Stereocilin

(2014) Diana Mandelker et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Incidental Findings of Nonparentage: A Case for Universal Nondisclosure

(2014) M. Palmor et al.   PEDIATRICS

Integration of noninvasive prenatal prediction of fetal blood group into clinical prenatal care

(2014) Frederik Banch Clausen   PRENATAL DIAGNOSIS

Exome sequencing for gene discovery in lethal fetal disorders - harnessing the value of extreme phenotypes

(2014) Isabel Filges et al.   PRENATAL DIAGNOSIS

Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders

(2014) S. E. Soden et al.   Science Translational Medicine

ACMG clinical laboratory standards for next-generation sequencing

(2013) Heidi L. Rehm et al.   GENETICS IN MEDICINE

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

(2013) Robert C. Green et al.   GENETICS IN MEDICINE

Technical report: ethical and policy issues in genetic testing and screening of children

(2013) Laine Friedman Ross et al.   GENETICS IN MEDICINE

Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles

(2013) P. M. Boone et al.   GENOME RESEARCH

Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

(2013) Yaping Yang et al.   NEW ENGLAND JOURNAL OF MEDICINE

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

(2013) Nicholas Lench et al.   PRENATAL DIAGNOSIS

Women’s experiences receiving abnormal prenatal chromosomal microarray testing results

(2012) Barbara A. Bernhardt et al.   GENETICS IN MEDICINE

Points to consider in the clinical application of genomic sequencing

(2012)   GENETICS IN MEDICINE

Opportunities and Challenges Associated with Clinical Diagnostic Genome Sequencing

(2012) Iris Schrijver et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Rapid Whole-Genome Sequencing for Genetic Disease Diagnosis in Neonatal Intensive Care Units

(2012) C. J. Saunders et al.   Science Translational Medicine

Congenital Tetragametic Blood Chimerism Explains a Case of Questionable Paternity*

(2011) Qiong Yu et al.   JOURNAL OF FORENSIC SCIENCES

Laboratory Guidelines for Detection, Interpretation, and Reporting of Maternal Cell Contamination in Prenatal Analyses

(2011) Narasimhan Nagan et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Performance comparison of exome DNA sequencing technologies

(2011) Michael J Clark et al.   NATURE BIOTECHNOLOGY

PTPN11analysis for the prenatal diagnosis of Noonan syndrome in fetuses with abnormal ultrasound findings

(2009) KA Lee et al.   CLINICAL GENETICS

Retrieval of trophoblast cells from the cervical canal for prediction of abnormal pregnancy: a pilot study

(2009) A. N. Imudia et al.   HUMAN REPRODUCTION