Results 61 to 70 of about 97,595 (299)
Noninvasive prenatal diagnosis of fetal trisomy 18 and trisomy 13 by maternal plasma DNA sequencing. [PDF]
PLoS ONE, 2011 Massively parallel sequencing of DNA molecules in the plasma of pregnant women has been shown to allow accurate and noninvasive prenatal detection of fetal trisomy 21.
Eric Z Chen +28 more
doaj +1 more source
IONA test for first-trimester detection of trisomies 21, 18 and 13 [PDF]
, 2015 OBJECTIVE: To assess the potential performance of screening for fetal trisomies 21, 18 and 13 by cell-free DNA (cfDNA) analysis of maternal blood using the IONA\uae test.
Dumidrascu-Diris, D. +4 more
core +1 more source
Genetic testing for familial epilepsies: Diagnostic yield and genetic findings
Epilepsia, EarlyView.Abstract Objective Genetic testing has become a routine part of clinical epilepsy care. Family history is an indication for genetic testing, but the diagnostic yield, predictors of a genetic diagnosis, and association with familial patterns are not well understood.
Colin A. Ellis +27 more
wiley +1 more source
The Impact of Inherited Thrombophilia on First Trimester Combined Aneuploidy Screening Parameters
Acta Medica BulgaricaObjective. To investigate the impact of thrombophilia on pregnancy-associated plasma protein A (PAPP-A) and human chorionic gonadotropin (hCG) and the nuchal translucency (NT) during the first trimester of the pregnancy.
Kirovakov Z., Hinkova N., Konova E.
doaj +1 more source
Low diagnostic yield of presurgical genetic testing in adult patients with epilepsy
Epilepsia, EarlyView.Abstract Objective To determine the diagnostic yield of genetic testing in patients undergoing presurgical evaluation for epilepsy. Methods We conducted a cohort study including 115 adult patients who underwent presurgical evaluation in the Calgary Epilepsy Program between 2019 and 2023 and who had undergone research exome sequencing.
Clara Jünemann +16 more
wiley +1 more source
Placental mosaicism and complications of pregnancy
Медицинский совет, 2021 Timely diagnosis of chromosomal aneuploidies plays an important role in determining the proper approach to the management of pregnancy. This article outlines the current ideas on the likelihood of occurrence of obstetric pathology, depending on the ...
A. A. Sivik, N. K. Tetruashvili
doaj +1 more source
Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes
Epilepsia Open, EarlyView.Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola +3 more
wiley +1 more source
Taiwanese Journal of Obstetrics & Gynecology, 2020 Objective: We present mosaic double trisomy involving trisomy 7 and trisomy 20 at amniocentesis in a pregnancy with a favorable outcome. Case report: A 41-year-old woman underwent amniocentesis at 16 weeks of gestation because of advanced maternal age ...
Chih-Ping Chen +8 more
doaj +1 more source
A survey of chromosome anomalies in Malta [PDF]
, 1989 433 individuals referred for chromosome analysis between 1983 and 1987 were included in the survey. Among individuals with dysmorphic features or congenital anomalies 42% of babies referred in the neonatal period and 12 to 30% of individuals in older age
Cuschieri, Alfred, Gauci, Sandra
core
Clinical Case Reports, 2023 We present two cases of general anesthesia in children with 18, 13 trisomy. One patient had difficulty with intubation and had to be reintubated postoperatively, another developed postoperative acute respiratory distress syndrome.
Hirofumi Hirano +2 more
doaj +1 more source