Results 111 to 120 of about 37,356 (255)

A Framework for Bioinformatic Reporting in Prenatal Sequencing: Insights From a Systematic Review

Prenatal Diagnosis, EarlyView.
ABSTRACT Genomic sequencing has become a key tool in the investigation of foetal anomalies, with a growing shift from targeted panels to exome and genome sequencing. These broader approaches generate significantly more data, underscoring the need for robust bioinformatics pipelines. However, practices vary widely between laboratories.
Ashley J. Pritchard, Karen Mei Xian Lim, Graeme Smith, Elizabeth Scotchman, Alexander Gibbs, Patrick Lombard, Natalie J. Chandler   +6 more
wiley   +1 more source

Diagnostic et anomalies biologiques chez un drepanocytaire [PDF]

, 2006
La drépanocytose est une hémoglobinopathie grave, fréquemment rencontrée dans la race noire et qui se manifeste par une anémie hémolytique chronique.
Essono, E Mvoa, Nkoa, T
core   +1 more source

NONO‐Related Syndromic X‐Linked Developmental Disability 34: Further Clinical and Molecular Delineation in a Prenatal Cohort

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To characterize the prenatal sonographic features across different trimesters and genomic spectrum of NONO‐related X‐linked intellectual developmental disorder. Method We analyzed two fetuses presenting with corpus callosum agenesis and rare cardiac anomalies using genome sequencing and exome sequencing.
Yilin Zhao, Gang Zou, Mengmeng Shi, Kwok Ming Law, So Ling Lau, Meng Meng, Yuen Ha Ting, Chiu Yee Liona Poon, Zirui Dong, Matthew Hoi Kin Chau, Tak Yeung Leung, Kwong Wai Choy, Xinwen Zhang, Ye Cao   +13 more
wiley   +1 more source

Quelles pratiques infirmières permettent de répondre aux besoins des mères lors de la période de transition à la naissance afin de limiter le risque d'épuisement postnatal ?: travail de Bachelor [PDF]

, 2015
Contexte : Le risque d’épuisement ou de dépression durant la période postnatale est un sujet encore peu étudié; les femmes, souvent, ne parlent pas des difficultés rencontrées durant cette période par peur d’être jugées sous le poids des représentations ...
Cane, Gaëlle, Coulon, Delphine, Gabriel, Larissa, Guerre, Coralie   +3 more
core  

Intrauterine Transfusions in Fetuses Affected by Parvovirus B19: Complications, Challenges and Outcomes

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective This study evaluates the procedural characteristics, complications, and outcomes of intrauterine transfusion (IUT) for fetal anemia caused by parvovirus B19 infection during the 2023–2024 epidemic in Northwestern Europe. Method This multicenter observational study included all fetuses undergoing IUT for proven parvovirus B19‐induced ...
Banu Özbakir, Emma Van den Eede, Lone N. Nørgaard, Roland Devlieger, Karin Sundberg, Monique C. Haak, Femke Slaghekke   +6 more
wiley   +1 more source

Malformations pulmonaires congénitales [PDF]

, 2020
Les malformations broncho-pulmonaires sont rares .Si l’histoire naturelle de ces lésions est assez bien connue, leur physiopathologie n’est en revanche pas complètement élucidée.
BENABDALLAH, Mohammed El Hadi, BENCHIRA, Welid, LARBI, Widad   +2 more
core   +1 more source

Diagnostic Yield of Post‐Mortem Fetal Micro‐CT for Central Nervous System Abnormalities

Prenatal Diagnosis, EarlyView.
ABSTRACT Objectives This study demonstrates the central nervous system (CNS) abnormalities detected using fetal post‐mortem micro‐focus computed tomography (Micro‐CT), independent of whether the abnormality contributed to the main diagnosis or cause of death.
Ian C. Simcock, Audrey Lamouroux, Susan C. Shelmerdine, J. Ciaran Hutchinson, Neil J. Sebire, Owen J. Arthurs   +5 more
wiley   +1 more source

Laparoscopic management of neonatal ovarian cysts

Journal of Indian Association of Pediatric Surgeons, 2005
The first prenatal detection of an ovarian cyst was by Valenti in 1975. Since then antenatal and neonatal ovarian cysts are encountered more frequently due to the improvement of imaging techniques as well as routine antenatal ultrasound scanning.
Oak Sanjay, Parelkar S, Akhtar T, Pathak R, Vishwanath N, Satish K, Kiran R   +6 more
doaj  

Diagnostic Yield of Sequencing for Prenatal Diagnosis of Fetal Structural Anomalies: An Updated Systematic Review

Prenatal Diagnosis, EarlyView.
ABSTRACT The clinical utility of sequencing in prenatal diagnosis is known, but diagnostic yield varies widely depending on clinical indication. Here we update an earlier systematic review reporting the diagnostic yield of prenatal sequencing in structurally abnormal fetuses, with particular focus on factors affecting diagnostic yield.
Karen Mei Xian Lim, Alexander Gibbs, Elizabeth Scotchman, Graeme Smith, Lyn S. Chitty, Natalie J. Chandler   +5 more
wiley   +1 more source

The Utilisation of Genetic Counselling Services Amongst Prenatal Healthcare Providers in Gauteng, South Africa

Prenatal Diagnosis, EarlyView.
ABSTRACT Introduction Congenital anomalies and genetic disorders contribute substantially to perinatal morbidity and mortality, particularly in low‐ and middle‐income countries. Prenatal healthcare providers play a key role in identifying affected pregnancies and referring to patients for genetic counselling; however, referral practices remain ...
Megan Duvenhage, Katryn Fourie, Monica Araujo   +2 more
wiley   +1 more source