Results 81 to 90 of about 34,383 (273)
Discrepancy of Cytogenetic Analysis in Western and Eastern Taiwan
Pediatrics and Neonatology, 2013 This study aimed at investigating the results of second-trimester amniocyte karyotyping in western and eastern Taiwan, and identifying any regional differences in the prevalence of fetal chromosomal anomalies.
Yu-Hsun Chang +6 more
doaj +1 more source
Noninvasive prenatal diagnosis of 21-Hydroxylase deficiency using target capture sequencing of maternal plasma DNA. [PDF]
, 2017 Here, we aimed to validate a noninvasive method using capture sequencing for prenatal diagnosis of congenital adrenal hyperplasia due to 21-Hydroxylase deficiency (21-OHD).
Asan +16 more
core +2 more sources
Clinical Genetics, EarlyView.Our Translational Loop integrates patient genetic data with Drosophila models to study disease mechanisms. We identified ACO2 variants in a patient linked to ICRD and show that our animal model mirrors key aspects of the disease. These insights help pinpoint therapeutic targets, advancing research toward treatments for rare genetic disorders.
Edgar Buhl +15 more
wiley +1 more source
Clinical Genetics, EarlyView.Fetal fraction (FF) estimates for 170 male pregnancies sampled between 7w0d and 9w6d of GA as a function of gestational age at blood draw without (blue triangles) and with fetal enrichment (red dots). Regression lines are shown (gray 95% CI). Besides, there is a closer look at samples below 4% FF.
Seyedeh Saideh Daryabari +6 more
wiley +1 more source
The fetal neurologist: Strategies to improve training, practice, and clinical care
Developmental Medicine &Child Neurology, EarlyView.Abstract Fetal neurology addresses counselling parents on the clinical significance of brain anomalies encountered in their fetus, including disruptive lesions (i.e. stroke, periventricular haemorrhagic infarction, and infection), and genetically based cortical (i.e.
Tally Lerman‐Sagie, Anthony R. Hart
wiley +1 more source
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
Characterization of cells of amniotic fluids by immunological identification of intermediate-sized filaments: Presence of cells of different tissue origin [PDF]
, 1981 Antibodies against intermediate-sized filaments, of the prekeratin or vimentin type, were used to investigate the presence of these filaments by indirect immunofluorescence microscopy in cultured and non-cultured amniotic fluid cells, in frozen sections ...
Cremer, Marion +4 more
core +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
Women as moral pioneers? Experiences of first trimester antenatal screening [PDF]
, 2005 Copyright @ 2005 Elsevier Ltd.The implementation of innovative medical technologies can raise unprecedented ethical, legal and social dilemmas. This is particularly so in the area of antenatal screening, which is dominated by the language of risk and ...
Grellier, R +5 more
core +1 more source
Provider‐Led Interventions to Reduce Congenital Cytomegalovirus
Journal of Midwifery &Women's Health, EarlyView.Introduction Cytomegalovirus (CMV) infection immediately before or during pregnancy can infect a fetus transplacentally, causing congenital CMV (cCMV). cCMV can cause miscarriage, stillbirth, growth restriction, neurodevelopmental delay, hearing, and vision impairment.
Erin Trisko +3 more
wiley +1 more source