Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA.

Abnormalities, Multiple / diagnostic imaging Achondroplasia / diagnosis Acrocephalosyndactylia / diagnosis Adult Bone and Bones / abnormalities Cell-Free Nucleic Acids Collagen Type I / genetics Collagen Type I, alpha 1 Chain De Lange Syndrome / diagnosis Female Genetic Diseases, Inborn / diagnosis High-Throughput Nucleotide Sequencing Humans Hydrops Fetalis / diagnostic imaging Lymphangioma, Cystic / diagnostic imaging Nuchal Translucency Measurement Osteogenesis Imperfecta / diagnosis Predictive Value of Tests Pregnancy Prenatal Diagnosis Sequence Analysis, DNA Thanatophoric Dysplasia / diagnosis Ultrasonography, Prenatal

Journal

Nature medicine
ISSN: 1546-170X
Titre abrégé: Nat Med
Pays: United States
ID NLM: 9502015

Informations de publication

Date de publication:
03 2019
Historique:
received: 15 05 2018
accepted: 17 12 2018
pubmed: 30 1 2019
medline: 14 5 2019
entrez: 30 1 2019
Statut: ppublish

Résumé

Current non-invasive prenatal screening is targeted toward the detection of chromosomal abnormalities in the fetus

Identifiants

DOI: 10.1038/s41591-018-0334-x PMID: 30692697
pubmed: 30692697
doi: 10.1038/s41591-018-0334-x
pii: 10.1038/s41591-018-0334-x
doi:

Substances chimiques

Cell-Free Nucleic Acids 0
Collagen Type I 0
Collagen Type I, alpha 1 Chain 0

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

439-447

Commentaires et corrections

Type : ErratumIn
Type : CommentIn

Auteurs

Jinglan Zhang (J)

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. jinglanz@bcm.edu.
ORCID: 0000-0002-4600-7123

Jianli Li (J)

Baylor Genetics, Houston, TX, USA.

Jennifer B Saucier (JB)

Natera, Inc., San Carlos, CA, USA.

Yanming Feng (Y)

Baylor Genetics, Houston, TX, USA.

Yanjun Jiang (Y)

Baylor Genetics, Houston, TX, USA.

Jefferson Sinson (J)

Baylor Genetics, Houston, TX, USA.

Anne K McCombs (AK)

Office of Clinical Research, Baylor College of Medicine, Houston, TX, USA.

Eric S Schmitt (ES)

Baylor Genetics, Houston, TX, USA.
ORCID: 0000-0002-4098-1275

Sandra Peacock (S)

Baylor Genetics, Houston, TX, USA.

Stella Chen (S)

Baylor Genetics, Houston, TX, USA.

Hongzheng Dai (H)

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

Xiaoyan Ge (X)

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

Guoli Wang (G)

Baylor Genetics, Houston, TX, USA.

Chad A Shaw (CA)

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Department of Statistics, Rice University, Houston, TX, USA.

Hui Mei (H)

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

Amy Breman (A)

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
ORCID: 0000-0003-0299-0100

Fan Xia (F)

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

Yaping Yang (Y)

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

Anne Purgason (A)

Baylor Genetics, Houston, TX, USA.

Alan Pourpak (A)

Baylor Genetics, Houston, TX, USA.

Zhao Chen (Z)

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

Xia Wang (X)

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

Yue Wang (Y)

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

Shashikant Kulkarni (S)

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

Kwong Wai Choy (KW)

Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong, Hong Kong, China.
The Chinese University of Hong Kong-Baylor College of Medicine Joint Center For Medical Genetics, Hong Kong, China.

Ronald J Wapner (RJ)

Department of Obstetrics and Gynecology, Columbia University, New York, NY, USA.

Ignatia B Van den Veyver (IB)

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Department of Obstetrics and Gynecology, Baylor College of Medicine, Houston, TX, USA.

Arthur Beaudet (A)

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

Sheetal Parmar (S)

Natera, Inc., San Carlos, CA, USA.

Lee-Jun Wong (LJ)

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

Christine M Eng (CM)

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

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Classifications MeSH

questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Malformations › Malformations multiples › Non-invasive prenatal sequencing for multiple...
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Maladies génétiques congénitales › Achondroplasie › Non-invasive prenatal sequencing for multiple...
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Malformations › Malformations de l'appareil locomoteur › Synostose › Syndactylie › Acrocéphalosyndactylie › Non-invasive prenatal sequencing for multiple...
questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › Non-invasive prenatal sequencing for multiple...
questionsmedicales.fr › Tissus › Tissu conjonctif › Os et tissu osseux › Non-invasive prenatal sequencing for multiple...
questionsmedicales.fr › Acides nucléiques, nucléotides et nucléosides › Acides nucléiques › Acides nucléiques acellulaires › Non-invasive prenatal sequencing for multiple...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Scléroprotéines › Protéines de la matrice extracellulaire › Collagène › Collagènes fibrillaires › Collagène de type I › Non-invasive prenatal sequencing for multiple...
questionsmedicales.fr › Structures macromoléculaires › Chaine alpha-1 du collagène de type I › Non-invasive prenatal sequencing for multiple...
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Maladies génétiques congénitales › Maladies chromosomiques › Syndrome de Cornelia de Lange › Non-invasive prenatal sequencing for multiple...
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Maladies génétiques congénitales › Non-invasive prenatal sequencing for multiple...
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Analyse de séquence › Séquençage nucléotidique à haut débit › Non-invasive prenatal sequencing for multiple...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Non-invasive prenatal sequencing for multiple...
questionsmedicales.fr › États, signes et symptômes pathologiques › Signes et symptômes › Oedème › Anasarque foetoplacentaire › Non-invasive prenatal sequencing for multiple...
questionsmedicales.fr › Tumeurs › Tumeurs par type histologique › Tumeurs des vaisseaux lymphatiques › Lymphangiome › Lymphangiome kystique › Non-invasive prenatal sequencing for multiple...
questionsmedicales.fr › Diagnostic › Techniques et procédures diagnostiques › Techniques de diagnostic gynécologique et obstétrique › Diagnostic prénatal › Échographie prénatale › Mesure de la clarté nucale › Non-invasive prenatal sequencing for multiple...
questionsmedicales.fr › Maladies de la peau et du tissu conjonctif › Maladies du tissu conjonctif › Maladies du collagène › Ostéogenèse imparfaite › Non-invasive prenatal sequencing for multiple...
questionsmedicales.fr › Environnement et santé publique › Santé publique › Méthodes épidémiologiques › Méthodologie en recherche épidémiologique › Valeur prédictive des tests › Non-invasive prenatal sequencing for multiple...
questionsmedicales.fr › Phénomènes physiologiques des appareils urinaire et reproducteur › Phénomènes physiologiques de la reproduction › Reproduction › Grossesse › Non-invasive prenatal sequencing for multiple...
questionsmedicales.fr › Diagnostic › Techniques et procédures diagnostiques › Techniques de diagnostic gynécologique et obstétrique › Diagnostic prénatal › Non-invasive prenatal sequencing for multiple...
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Analyse de séquence › Analyse de séquence d'ADN › Non-invasive prenatal sequencing for multiple...
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Maladies néonatales › Dysplasie thanatophore › Non-invasive prenatal sequencing for multiple...
questionsmedicales.fr › Diagnostic › Techniques et procédures diagnostiques › Techniques de diagnostic gynécologique et obstétrique › Diagnostic prénatal › Échographie prénatale › Non-invasive prenatal sequencing for multiple...