Results 61 to 70 of about 10,139 (212)

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

open access: yesPrenatal Diagnosis, Volume 46, Issue 5-6, Page 669-686, May 2026.
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

Ultrasound diagnosis of hydrops fetalis in consanguineous parents

open access: yesPAMJ Clinical Medicine, 2020
This is a 25-year-old patient who has been married for 1 year to a first cousin. She is nulliparous and was pregnant with a first pregnancy at 27 weeks of gestation.
Ibrahima Niang, Mamadou Ly
doaj   +1 more source

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

open access: yesPrenatal Diagnosis, Volume 46, Issue 5-6, Page 780-818, May 2026.
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

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

open access: yesPrenatal Diagnosis, Volume 46, Issue 5-6, Page 623-635, May 2026.
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

Immune hydrops fetalis [PDF]

open access: yesScripta Medica, 2015
Hydrops fetalis is a serious condition indicating a bad prognosis of affected fetuses. Incidence of immune hydropsfetalis is significantly decreasing, whereas more and more non-immune hydropsfetalisis are identified.
Jojić Dragica   +3 more
doaj  

گزارش يک مورد سندرم بالانتين همراه با تخمدانهای بزرگ تحريک شده [PDF]

open access: yes, 2004
سندرم بالانتين سندرمی است که با هيدروپس شديد جنينی و جفتی و به دنبال آن هيدروپس مادر، خود را نشان می‌دهد. اين سندرم علل مختلفی دارد و در واقع می‌توان گفت هر عاملی که هيدروپس فتاليس شديد ايجاد نمايد، ممکن است به سندرم بالانتين منجر شود.
امينی, علی
core  

Severe hydrops in the infant of a Rhesus D-positive mother due to anti-c antibodies diagnosed antenatally: a case report [PDF]

open access: yes, 2010
Introduction Rhesus haemolytic disease of the newborn is a prototype of maternal isoimmunisation and fetal haemolytic disease. There are other rare blood group antigens capable of causing alloimmunisation and haemolytic disease such as c, C, E, Kell and ...
Shilpa Singla   +4 more
core   +2 more sources

Evolving Features of RASopathies Among Pregnancies With Abnormal Fetal Fluid Collections

open access: yesPrenatal Diagnosis, Volume 46, Issue 5-6, Page 892-903, May 2026.
ABSTRACT Objective We aimed to characterize the fetal features across gestation and describe genotype‐phenotype correlations for pregnancies with fetal RASopathies that were more severely affected as they presented with at least one abnormal fluid collection.
Natalie B. Gulrajani   +17 more
wiley   +1 more source

A Preterm Infant with Gene Mutation Presenting with Cardiac Tamponade and Hydrops Fetalis: A Case Report [PDF]

open access: yesNeonatal Medicine
Hydrops fetalis is a condition characterized by excessive fluid accumulation in the fetus, and is classified into immune and non-immune types depending on the underlying disease. Among cases of non-immune hydrops fetalis (NIHF), 15% to 20% are of cardiac
Jae Hun Jeong   +2 more
doaj   +1 more source

Prenatal diagnosis of thalassemia [PDF]

open access: yes, 2008
published_or_final_versio
Chan, V   +3 more
core  

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