Results 211 to 220 of about 436,907 (393)

Genetic Diagnosis and Clinical Features of Fetuses With Congenital Diaphragmatic Hernia

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective Congenital diaphragmatic hernia (CDH) is a rare abnormality with highly heterogeneous genetic causes. This study investigated chromosomal and monogenic abnormalities in fetal CDH patients and evaluated the efficacy of chromosomal microarray analysis (CMA) and whole‐exome sequencing (WES) for genetic diagnosis.
Yan Lü   +18 more
wiley   +1 more source

Repair of Giant Parastomal Hernia with Loss of Domain by Total Colectomy: A Case Report. [PDF]

open access: yesSurg Case Rep
Kaneko T   +8 more
europepmc   +1 more source

Whole Genome Sequencing in Prenatal Diagnostics: The Danish Approach to Guideline Formation and Implementation Within Public Healthcare

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective To describe the implementation of whole genome sequencing (WGS) in prenatal diagnostics and outline the national guideline system facilitating this. Methods Clinical guidelines for WGS in prenatal diagnostics were developed and implemented by the Danish Fetal Medicine Society.
Ida Vogel   +17 more
wiley   +1 more source

Current Controversies in Prenatal Diagnosis—Conference Debate 2024: All Fetuses Undergoing Fetal Therapy Should Have Exome Sequencing

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT This manuscript summarises the debate held at the 2024 annual meeting of The International Society for Prenatal Diagnosis (ISPD). Experts discussed whether all fetuses undergoing fetal therapy should undergo exome sequencing. Arguments in favor included that, with increasing experience and better clinical availability, exome sequencing can ...
Teresa N. Sparks   +2 more
wiley   +1 more source

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