Results 51 to 60 of about 24,078 (192)
Prenatal 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
Case Reports in Obstetrics and Gynecology, 2013 Introduction. Primary congenital lymphedema is a rare disorder associated with insufficient development of lymphatic vessels. Usually most patients present with lower extremity edema seen sonographically.
Paul Singh, Matthew Connell
doaj +1 more source
Thymic teratoma presenting as non-immune hydrops fetalis
Autopsy and Case Reports, 2018 Teratomas are one of the most frequent tumors in the pediatric population. They occur anywhere along the midline of the body, following the course of the embryonic germ cell ridge.
Ameer Hamza +3 more
doaj +1 more source
OC11.05: Delineating the genetic causes of non‐immune hydrops fetalis by whole‐exome sequencing: a pilot series [PDF]
, 2023 Ming Chen
openalex +1 more source
Prenatal 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
Radiology and Oncology, 2014 Background. Mediastinal fetal teratoma can be detected as a mass in the chest during a routine prenatal ultrasound screening. Because of the pressure on mediastinal structures it can be the cause of non-immune hydrops fetalis and polyhydramnion.
Simoncic Milanka +6 more
doaj +1 more source
Prenatal Diagnosis, EarlyView.ABSTRACT Hemolytic disease of the fetus and newborn (HDFN) remains a significant concern in prenatal care primarily caused by maternal alloimmunization against fetal red blood cell antigens, most commonly the D antigen. Noninvasive fetal RHD genotyping, used as a screening tool, enables targeted antenatal prophylaxis and has been implemented in several
Emilie Thorup +4 more
wiley +1 more source
Placental chorioangioma associated with polyhydramnios and hydrops fetalis
BMJ Case Reports, 2019 A 27-year-old multigravida woman was noted on routine growth scan at 27 weeks gestation to have a central placental hypoechoic area measuring 6.7×6.0×4.4 cm.
Charlotte Willis +2 more
semanticscholar +1 more source
Evolving Features of RASopathies Among Pregnancies With Abnormal Fetal Fluid Collections
Prenatal Diagnosis, EarlyView.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
Perinatal-lethal Gaucher disease presenting as hydrops fetalis
The Pan African Medical Journal, 2015 Perinatal-lethal Gaucher disease is very rare and is considered a variant of type 2 Gaucher disease that occurs in the neonatal period. The most distinct features of perinatal-lethal Gaucher disease are non-immune hydrops fetalis.
Emira Ben Hamida +8 more
doaj +1 more source