Results 91 to 100 of about 30,665 (241)
Paediatric Metabolic Conditions of the Liver [PDF]
European 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
Taiwanese Journal of Obstetrics & Gynecology, 2005 Objective: To investigate the impact of second-trimester maternal serum screening on prenatal diagnosis of Down syndrome and the use of amniocentesis in the Taiwanese population.
Chih-Ping Chen +2 more
doaj +1 more source
Clinical Genetics, EarlyView.Noninvasive prenatal diagnosis for monogenic diseases (NIPD‐M) to detect inherited mutations is performed in parallel with fetal fraction signatures, to detect various anomalies that may compromise diagnosis. An extra regression analysis may be necessary to resolve mosaic situations. ABSTRACT Noninvasive prenatal diagnosis relies on the analysis of the
Jean‐Louis Blouin +2 more
wiley +1 more source
Taiwanese Journal of Obstetrics & Gynecology, 2009 Objective: To present our experience of amniocentesis for the prenatal diagnosis of Down syndrome due to unbalanced homologous acrocentric rearrangements and its recurrence in subsequent pregnancies.
Chih-Ping Chen +6 more
doaj +1 more source
The Role of Late Amniocentesis in the Management of Preterm Parturition [PDF]
, 2013 Moshe Mazor
openalex +1 more source
Molecular Testing in Sickle Cell Disease: From Newborn Screening to Transfusion Care
International Journal of Laboratory Hematology, EarlyView.ABSTRACT Sickle cell disease (SCD) is one of the most frequent monogenic diseases worldwide and a highly heterogeneous and complex disease. SCD care carries several challenges. This includes early and accurate diagnosis as well as optimal red blood cell transfusion matching in this population carrying a high risk of alloimmunization.
Thomas Pincez, Yves D. Pastore
wiley +1 more source
The Evolving Landscape of CHD Genetics: A Contemporary Guide to Genetic Testing and Management
Journal of Paediatrics and Child Health, EarlyView.ABSTRACT Congenital heart disease (CHD) is the most common birth defect, affecting an estimated 9.4/1000 infants globally. The genetics of CHD is complex, with most cases thought to have multifactorial aetiology, implicating both genetic and environmental factors.
Bridget R. O'Malley +3 more
wiley +1 more source
Three years’ experience of using a 29-gauge atraumatic needle for amniocentesis [PDF]
, 2012 M Tchirikov +4 more
openalex +1 more source
American Journal of Medical Genetics Part A, Volume 200, Issue 2, Page 348-352, February 2026.ABSTRACT Genome‐wide non‐invasive prenatal testing (NIPT) is a powerful tool for prenatal detection of the common aneuploidies causing Down‐, Edwards‐, and Patau syndrome. Its genome‐wide reach also enables the detection of unbalanced structural chromosomal abnormalities.
Servi J. C. Stevens +9 more
wiley +1 more source
Incidence of rhesus immunisation after genetic amniocentesis. [PDF]
, 1986 Ann Tabor, Donald Jerne, J Bock
openalex +1 more source