Results 81 to 90 of about 1,328,374 (245)

Prenatal diagnostic testing and Down syndrome in Victoria 1992–2002

Australian and New Zealand Journal of Public Health, 2004
Objective:To describe patterns of uptake of prenatal diagnostic testing and prenatal detection rates for Down syndrome in Victoria with regard to mater nal age and prenatal screening practices.
Evelyne E. Muggli, Jane L. Halliday
doaj   +1 more source

Prenatal hepatitis C screening, diagnoses, and follow-up testing in British Columbia, 2008-2019.

PLoS ONE, 2020
ObjectiveCurrent guidelines in British Columbia recommend prenatal screening for hepatitis C antibodies (anti-HCV) if risk factors are present. We aimed to estimate frequency of prenatal anti-HCV testing, new diagnoses, repeated and follow-up testing ...
Margo E Pearce, Amanda Yu, Maria Alvarez, Sofia R Bartlett, Mawuena Binka, Dahn Jeong, Emilia Clementi, Prince Adu, James Wilton, Eric M Yoshida, Neora Pick, Jane A Buxton, Jason Wong, Agatha Jassem, Mel Krajden, Naveed Z Janjua   +15 more
doaj   +1 more source

Delayed Recognition of Maternal G6PD Heterozygous Status Across Prenatal and Newborn Care Interfaces

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Glucose‐6‐phosphate dehydrogenase (G6PD) deficiency is the most common red blood cell enzymatic disorder worldwide. Although many heterozygotes are asymptomatic, affected neonates have an increased risk for hyperbilirubinemia and related complications.
Mona M. Makhamreh, Ramiah R. Vickers, Cheryl Mensah, Wanda Dosal, Jennifer R. McKinney, April D. Adams   +5 more
wiley   +1 more source

Economic evaluation of cystic fibrosis screening: A Review of the literature, CHERE Working Paper 2006/6 [PDF]

Objectives: To critically examine the economic evidence on Cystic Fibrosis (CF) screening and to understand issues relating to the transferability of findings to the Australian context for policy decisions.
Muralikrishnan Radhakrishnan, Kees van Gool, Martin Delatycki, Jane Hall, John Massie   +4 more
core  

A Novel Constitutional TUBB Variant Associated With Familial Malformations of Cortical Development

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Most pathogenic tubulin variants arise de novo in sporadic patients, causing severe brain malformations and significant neurodevelopmental impairment. The resulting reproductive disadvantage typically prevents these mutations from being transmitted to offspring.
Elena Cellini, Davide Mei, Mara Cavallin, Simona Fiori, Luciana Tramacere, Maria Elena Melica, Giulia Antonelli, Simona Virdò, Elena Parrini, Renzo Guerrini   +9 more
wiley   +1 more source

Special Report: Prenatal Screening Policies in Europe 2010

, 2010
Since the setting up of EUROCAT in 1980 there has been a continuous increase in the proportion of congenital malformations that are diagnosed prenatally. EUROCAT studies have shown significant regional differences in prenatal detection rates in Europe. A
Boyd, Patricia, Bianchi, Fabrizio, Pierini, Anna, Strigini, Francesca, Cariati, Ettore, Garne, Ester   +5 more
core  

Prenatal screening, ethics and Down's Syndrome: a Literature review [PDF]

, 2001
This article reviews the literature on prenatal screening for Down's syndrome. To be evidence based, medicine and nursing have to take account of research evidence and also of how this evidence is processed through the influence of prevailing social and ...
Alderson, P, Alderson, Priscilla
core  

L‐Cysteine and N‐Acetylcysteine Supplementation Improves Clinical Outcome in a Patient With COXPD10

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT MTO1 is a nuclear gene that encodes a mitochondrial protein essential for modifying mitochondrial transfer RNAs (tRNAs) and stabilizing codon‐anticodon interactions to ensure accurate and efficient mitochondrial protein synthesis and oxidative phosphorylation.
Nishitha R. Pillai, Sara A. Elsbecker, Grace Bronken McCarthy, Kaitlin Weisshappel, Peter Karachunski, Fernando Scaglia   +5 more
wiley   +1 more source

Expanding the Phenotypic Spectrum of TXNDC15‐Related Ciliopathies to Include Joubert Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic loss‐of‐function variants in TXNDC15 are a known cause of the perinatally lethal ciliopathy Meckel syndrome (MKS). TXNDC15 encodes an endoplasmic reticulum (ER)‐resident thioredoxin‐domain protein required for ciliary transition zone integrity.
Zachary T. Sentell, Robert Geraghty, Juliana E. Arcila‐Galvis, Praveen Dhondurao‐Sudhindar, Sergio Foullerat Cañada, Fulvio D'Abrusco, Bosanka Jocic‐Jakubi, Miguel Barroso‐Gil, Valentina Serpieri, Thomas M. Kitzler, Kate E. Chandler, Eleanor G. Seaby, Gabrielle Wheway, Jennifer C. Dempsey, Dan Doherty, Enza M. Valente, John A. Sayer   +16 more
wiley   +1 more source

Prenatal diagnosis and clinical evaluation of fetuses with structural X chromosome abnormalities: a ten-year single-center retrospective study

BMC Medical Genomics
Background Structural X chromosome abnormalities are rare conditions and pose great challenges in prenatal genetic counseling. The present study aimed to identify and investigate the pregnancy outcome of fetuses with X chromosome structural abnormalities
Lixian Zhang, Jianlong Zhuang, Wenli Chen, Xinying Chen, Nan Huang   +4 more
doaj   +1 more source