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首页> Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology> Whole-genome sequencing in prenatally detected congenital malformations: prospective cohort study in clinical setting.

Whole-genome sequencing in prenatally detected congenital malformations: prospective cohort study in clinical setting.

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第一作者： E,Westenius

第一单位： Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.;Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.

作者： E,Westenius ^[1] ; P,Conner ^[2] ; M,Pettersson ^[1] ; E,Sahlin ^[1] ; N,Papadogiannakis ^[3] ; A,Lindstrand ^[1] ; E,Iwarsson ^[1]

作者单位： Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.;Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden. ^[1] Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden.;Center for Fetal Medicine, Karolinska University Hospital, Stockholm, Sweden. ^[2] Department of Laboratory Medicine, Karolinska Institutet, Stockholm, Sweden.;Department of Pathology, Karolinska University Hospital, Stockholm, Sweden. ^[3]

关键词 congenital malformation fetal development fetus genetic disease prenatal diagnosis structural anomaly whole‐genome sequencing

主题词人类(Humans);女(雌)性(Female);前瞻性研究(Prospective Studies);妊娠(Pregnancy);先天畸形(Congenital Abnormalities);成年人(Adult);产前诊断(Prenatal Diagnosis);超声检查, 产前(Ultrasonography, Prenatal);DNA拷贝数变异(DNA Copy Number Variations)

DOI 10.1002/uog.27592

PMID 38268232

发布时间 2024-05-02

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Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology

Ultrasound in obstetrics & gynecology

2024年63卷5期

658-663页

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