Results 291 to 300 of about 797,428 (374)

Impact of NLRP1 Met1154Val and IL1B variants on gestational malaria: an unexplored role of NLRP1 in inflammasome activation by Plasmodium spp.

open access: yesThe Journal of Pathology, EarlyView.
Abstract We hypothesized that variants in inflammasome‐related genes could influence susceptibility to gestational malaria (GM). To test this, we conducted an association study in a cohort of pregnant women from a malaria‐endemic region in northern Brazil, assessing whether specific functional single nucleotide variants (SNVs) in inflammasome genes ...
Vinicius NC Leal   +8 more
wiley   +1 more source

A Prospective Evaluation of the Diagnostic Utility for Low‐Coverage Genome Sequencing in Prenatal Samples: A Comparison With Chromosomal Microarray Analysis

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective The present study aimed to evaluate the efficacy of LC‐GS in detecting clinically relevant chromosomal abnormalities in comparison with conventional CMA within a prenatal context. Methods We conducted a prospective study involving 200 amniotic fluid samples.
Yan Yin   +11 more
wiley   +1 more source

Low-molecular-weight heparin in the prevention of unexplained recurrent miscarriage: a systematic review and meta-analysis. [PDF]

open access: yesSci Rep
Scarrone M   +10 more
europepmc   +1 more source

Vaginal Delivery in Cases of Prenatally Diagnosed Omphalocele: Feasibility and Outcomes

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective This study aimed to assess outcomes of fetuses with prenatally detected omphalocele and the frequency of successful vaginal delivery in pregnancies with suspected non‐lethal omphalocele and intended active neonatal management and its impact on neonatal outcome.
H. Heinrich   +5 more
wiley   +1 more source

Diagnosis and Management of Prenatal Hereditary Pyropoikilocytosis

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Hereditary pyropoikilocytosis (HPP) is a severe hemolytic anemia caused by variants in SPTA1, SPTB, and EPB41. These weaken horizontal interactions in the erythrocyte cytoskeleton, causing membrane fragmentation and splenic sequestration. It will readily cause fetal anemia and often hydrops fetalis. Prenatal diagnosis requires first ruling out
Connor Hartzell   +6 more
wiley   +1 more source

Maternal Mosaicism Challenges in Non‐Invasive Prenatal Diagnosis

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective To report the incidental detection of maternal somatic mosaicism during the development of exclusion‐based non‐invasive prenatal diagnosis for monogenic disorders (NIPD‐MD) initially indicated for apparently de novo pathogenic or likely pathogenic variants.
Margot Comel   +8 more
wiley   +1 more source

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