The use of fetal exome sequencing in prenatal diagnosis: a points to consider document of the American College of Medical Genetics and Genomics (ACMG)

scientific article published on 08 January 2020

The use of fetal exome sequencing in prenatal diagnosis: a points to consider document of the American College of Medical Genetics and Genomics (ACMG) is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1038/S41436-019-0731-7
P698PubMed publication ID31911674

P50authorNancy C RoseQ92480888
P2093author name stringPriya Prasad
Kristin G Monaghan
Natalia T Leach
Dawn Pekarek
ACMG Professional Practice and Guidelines Committee
P2860cites workWhole Genome Sequencing Improves Outcomes of Genetic Testing in Patients With Hypertrophic CardiomyopathyQ90344883
Whole-exome sequencing in the evaluation of fetal structural anomalies: a prospective cohort studyQ91321674
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencingQ29616235
ACMG clinical laboratory standards for next-generation sequencingQ33903280
Clinical whole-exome sequencing for the diagnosis of mendelian disordersQ34413680
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 PathologyQ34465792
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 GenomicsQ34544874
Promises, pitfalls and practicalities of prenatal whole exome sequencingQ34558273
Clinical exome sequencing for genetic identification of rare Mendelian disordersQ34782655
Clinical applications of next generation sequencing in cancer: from panels, to exomes, to genomes.Q35749677
Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findingsQ35776062
Chromosomal microarray versus karyotyping for prenatal diagnosisQ36546668
Exome sequencing of extended families with autism reveals genes shared across neurodevelopmental and neuropsychiatric disordersQ37496956
American College of Medical Genetics and Genomics: standards and guidelines for documenting suspected consanguinity as an incidental finding of genomic testingQ38074825
Use of prenatal chromosomal microarray: prospective cohort study and systematic review and meta-analysisQ38091392
Ethics of prenatal ultrasoundQ38174385
Managing the ethical challenges of next-generation sequencing in genomic medicineQ38239811
Clinical application of whole-exome sequencing across clinical indicationsQ41075733
Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome ResourceQ44763269
Ultrasonographically detectable markers of fetal chromosomal abnormalitiesQ44938554
Points to consider for informed consent for genome/exome sequencing.Q45908845
Prenatal exome sequencing in anomalous fetuses: new opportunities and challengesQ47131952
Joint Position Statement from the International Society of Prenatal Diagnosis (ISPD), the Society of Maternal Fetal Medicine (SMFM) and the Perinatal Quality Foundation (PQF) on the use of genome-wide sequencing for fetal diagnosisQ48521413
Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders.Q52622713
A Retrospective Study of Cytogenetic Results From Amniotic Fluid in 5328 Fetuses With Abnormal Obstetric Sonographic Findings.Q53282580
Committee Opinion No.682: Microarrays and Next-Generation Sequencing Technology: The Use of Advanced Genetic Diagnostic Tools in Obstetrics and Gynecology.Q54428442
Ethical and Counseling Challenges in Prenatal Exome SequencingQ56517284
Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort studyQ64108553
P433issue4
P921main subjectgenomicsQ222046
medical geneticsQ1071953
P304page(s)675-680
P577publication date2020-01-08
P1433published inGenetics in MedicineQ15765508
P1476titleThe use of fetal exome sequencing in prenatal diagnosis: a points to consider document of the American College of Medical Genetics and Genomics (ACMG)
P478volume22

Reverse relations

cites work (P2860)
Q89866364Genetic diagnosis in the fetus
Q101216931Whole exome sequencing of fetal structural anomalies detected by ultrasonography

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