Results 231 to 240 of about 423,772 (336)

Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta‐Analysis

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa   +7 more
wiley   +1 more source

Residual Risks of Fetal Chromosome Aberrations When Cell‐Free DNA Prenatal Screening Is Normal: A Retrospective Study

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objectives To estimate the residual risk of fetal chromosomal aberrations in pregnant women with normal cell‐free DNA (cfDNA) screening results to refine prenatal counseling. Methods A retrospective single‐center study was conducted between April‐2017 and March‐2021. In total, 46,007 women received a normal cfDNA screening result.
Adriana I. Iglesias   +21 more
wiley   +1 more source

Chromosomal microarray versus karyotyping for prenatal diagnosis.

open access: yesNew England Journal of Medicine, 2012
R. Wapner   +23 more
semanticscholar   +1 more source

Perspectives on Fetal Sex and Prenatal Diagnosis of Differences of Sex Development Among Midwives

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective Cell‐free DNA screening has increased prenatal diagnosis/suspicion of fetal differences of sex development (DSD). This study explored how midwives discuss fetal sex and possible DSD with pregnant patients. Method Active members of the American College of Nurse‐Midwives were surveyed electronically to assess terminology use when ...
Madeline Dingle   +6 more
wiley   +1 more source

The Expanding Role of Gene Sequencing in Shaping Fetal Therapies: Clinical and Ethical Considerations

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT In utero interventions are transformative in addressing genetic and anatomic conditions during fetal development. Next generation sequencing enables early genetic testing, playing a pivotal role in prenatal decision‐making by supporting risk stratification, precise and timely diagnosis, which directly informs eligibility for fetal surgical and
Matthew A. Shear   +7 more
wiley   +1 more source

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