Results 91 to 100 of about 19,473 (244)

Fear before, during and after amniocentesis [PDF]

open access: yes, 2006
Fear before, during and after amniocentesis The theme of this paper is "Fear before, during and after amniocentesis". I have chosen this theme as it is close to me. I studied to be midwife and I underwent amniocentesis myself.
Valová, Petra
core  

Facilitating Genetic Testing for Perinatal Demise: Development of a Multidisciplinary Workflow

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1273-1285, June 2026.
ABSTRACT Genetic contributors to perinatal demise are common but frequently undiagnosed due to clinical and logistical barriers. We aimed to improve access to genetic for intrauterine fetal demise (IUFD), stillbirth, and early neonatal death by developing a multidisciplinary workflow.
Mackenzie Mosera   +15 more
wiley   +1 more source

Pre-term pre-labour rupture of membranes and the role of amniocentesis

open access: yes, 2010
Pre-labour premature rupture of membranes (PPROM) is defined as rupture of membranes more than 1 hour prior to the onset of labour at
Kenyon, AP, Pandya, PP, Abi-Nader, KN
core  

Prenatal Diagnosis of Short Rib‐Polydactyly Syndrome (SRPS), DYNC2I1‐Related: Identification of a Novel Homozygous Missense Variant by Clinical Exome Sequencing

open access: yesClinical Case Reports, Volume 14, Issue 6, June 2026.
ABSTRACT Short rib‐polydactyly syndrome (SRPS), with or without polydactyly, encompasses a range of autosomal recessive skeletal dysplasias characterized by shortened limbs, narrow thorax, and visceral abnormalities. Accurate genetic testing is crucial for the diagnosis and treatment of different clinical subtypes. This study investigates gene variants
Shiyao Xian   +7 more
wiley   +1 more source

EHA Recommendations for preconceptual and antenatal screening and prenatal diagnosis for hemoglobinopathies

open access: yesHemaSphere, Volume 10, Issue 6, June 2026.
Abstract Thalassemia and sickle cell disease (SCD) are among the most common monogenic disorders worldwide. They cause chronic hemolytic anemia, the consequences and prognosis of which vary considerably depending on the genetic characteristics of patients and the healthcare system in their country of residence.
Mariane de Montalembert   +19 more
wiley   +1 more source

Absence of SARS-CoV-2 in Second-Trimester Amniotic Fluid During the SARS-CoV-2 Virus Pandemic

open access: yesWomen's Health Reports
Objective: To determine the presence or absence of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) in second-trimester amniotic fluid during the SARS-CoV-2 virus pandemic in patients undergoing genetic amniocentesis.
Poonam Samyal   +3 more
doaj   +1 more source

Previable PROM in twins: A systematic review and meta‐analysis

open access: yesInternational Journal of Gynecology &Obstetrics, Volume 173, Issue 3, Page 1244-1255, June 2026.
Abstract Background Previable prelabor rupture of membranes (PROM) in twin pregnancies is a rare but high‐risk condition associated with substantial neonatal mortality and maternal morbidity. Management options include expectant management and selective reduction, though guidance is limited and based primarily on singleton data.
Marwan Odeh   +6 more
wiley   +1 more source

Pregnancy Outcomes and Postnatal Health From Transferred Mosaic Embryos Following Preimplantation Genetic Testing for Aneuploidy

open access: yesiNew Medicine, Volume 2, Issue 2, June 2026.
This illustration synthesizes the methods and conclusion of this study, demonstrating that the transfer of mosaic embryos following reimplantation genetic testing for aneuploidy does not increase the risk to postnatal health. ABSTRACT Next‐generation sequencing (NGS) has increased the detection of mosaic embryos during preimplantation genetic testing ...
Lili Chen   +10 more
wiley   +1 more source

Paediatric Metabolic Conditions of the Liver [PDF]

open access: yesEuropean Medical Journal Hepatology, 2015
Paediatric metabolic disorders with the most clinical manifestations of deranged hepatic metabolism are discussed. The conditions which will be stressed are those for which effective treatment is available and early diagnosis is essential.
Elroy P. Weledji
doaj  

Providing space in genetic counseling: Reflexive thematic analysis of long and short sessions across clinical specialties

open access: yesJournal of Genetic Counseling, Volume 35, Issue 3, June 2026.
Abstract The duration of genetic counseling (GC) sessions can vary significantly. However, which factors contribute to sessions being abbreviated or extended and how that affects quality of care has not been well studied. This study explored variability in long versus short GC patient care time, defined as time spent in the session with the patient ...
Emily Glanton   +2 more
wiley   +1 more source

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