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Nonimmune Hydrops Fetalis
Published in Vincenzo Berghella, Maternal-Fetal Evidence Based Guidelines, 2022
Chelsea DeBolt, Katherine Connolly, Mary E. Norton, Joanne Stone
NIH can be the presenting feature of a number of genetic disorders. Noonan syndrome and other RASopathies, a group of disorders affecting the RAS–MAPK cell-signaling pathway, have been associated with NIH. Exome sequencing in cases of NIH has been found to identify a genetic cause in 29% of cases, with RASopathies composing the largest proportion. Other causative genetic disorders include inborn errors of metabolism, and musculoskeletal lymphatic, neurodevelopmental, cardiovascular, hematologic, immunologic and renal disorders, as well as ciliopathies and overgrowth syndromes [43].
Basic genetics and patterns of inheritance
Published in Hung N. Winn, Frank A. Chervenak, Roberto Romero, Clinical Maternal-Fetal Medicine Online, 2021
Diagnosis is possible for many genetic disorders using molecular genetic techniques. Genomic DNA can be obtained from peripheral blood leukocytes, solid tissues, or cultured cells. Testing can be accomplished by either direct mutation analysis or by linkage analysis (Fig. 21). In linkage analysis, information about nondisease producing variation, or polymorphisms, such as restriction fragment-length polymorphisms, variable number of tandem repeats, or microsatellite repeat polymorphisms, can trace inheritance of a chromosome containing a disease-producing gene through a family. This method of testing has disadvantages. First, multiple family members are needed to establish the phase of linkage. Second, some families may not be informative for some linked markers. Third, recombination between the marker and the disease gene may occur, causing inaccuracies in the test results.
Genetic testing and risk perception in the context of personalized medicine
Published in Ulrik Kihlbom, Mats G. Hansson, Silke Schicktanz, Ethical, Social and Psychological Impacts of Genomic Risk Communication, 2020
Sabine Wöhlke, Marie Falahee, Katharina Beier
People are increasingly able to access digitized data about their health, ranging from information provided by self-tracking and fitness apps to electronic patient records (Wöhlke et al. 2020; Rexhepi et al. 2018). Genetic information has become widely available, presenting people in both health care and commercial contexts with a variety of possibilities regarding the application and utility of sharing such information. Studies show that public interest in genetic information is high (Townsend et al. 2012). Genetic tests can confirm or rule out a suspected genetic condition, or determine a person’s chance of developing or passing on a genetic disorder, and in some cases, they provide relevant information that can be used to family members’ benefit (Burke 2014; Mendes et al. 2015).
A novel pathogenic variant in LCAT causing FLD. A case report
Published in Acta Clinica Belgica, 2022
Nuria Goñi Ros, Ricardo González-Tarancón, Paula Sienes Bailo, Elvira Salvador-Ruperez, Martín Puzo Bayod, José Puzo Foncillas
Genetic LCAT deficiency (this is the general term that includes both disorders – FLD and FED) is due to loss-of-function mutations in the LCAT gene. The genetic defect leads to two known syndromes: familial LCAT deficiency (FLD; OMIM# 245900), also called Norum disease, and fish-eye disease (FED; OMIM#136120). With a prevalence below 1 in 1 million individuals and very few cases described to date, they are both rare genetic disorders [1]. The first is caused by mutations leading to absence or complete inactivity of the enzyme. Nevertheless, the latter is caused by mutations abolishing LCAT’s ability to esterify cholesterol in high-density lipoproteins (HDL), the major substrate, but not its ability to esterify cholesterol in apoB-containing lipoproteins [2]. Typically, clinical signs of FED and FLD include decreased circulating HDL cholesterol (80–90% cases) and dense corneal opacity, due to progressive accumulation of small grayish dots of cholesterol. Kidney injuries have so far only been reported for patients suffering from FLD. Beginning, usually, in adolescence or early adulthood with episodes of proteinuria, they worsen over time ending in kidney failure. In some cases (5–29%), according to Human Phenotype Ontology, other signs such as angina pectoris, atherosclerosis, and hepatomegaly can also appear in this patient [3].
Diagnostic utility of rapid sequencing in critically ill infants: a systematic review and meta-analysis
Published in Expert Review of Molecular Diagnostics, 2022
Feifan Xiao, Kai Yan, Meiling Tang, Xiaoshan Ji, Liyuan Hu, Lin Yang, Wenhao Zhou
Genetic disorders are a major cause of infant death, especially in the neonatal intensive care unit (NICU) and pediatric intensive care unit (PICU). Reportedly, approximately 20% of deceased infants were diagnosed with genetic disorders [1,2]. An accurate clinical diagnosis is vital for the precise treatment of a critically ill infant. However, the diagnosis of genetic disorders is difficult based on only clinical symptoms because of the great variety of genetic disorders, rapid changes in clinical features, and atypical symptoms that may not present at an early age [3]. Therefore, early genetic testing is necessary for critically ill infants suspected of having genetic disorders. Traditional genetic testing methods, such as chromosome microarray analysis and Sanger sequencing, have several limitations, including low throughput and high cost.
Nucleic acid-based electrochemical biosensors for rapid clinical diagnosis: advances, challenges, and opportunities
Published in Critical Reviews in Clinical Laboratory Sciences, 2022
Abu Hashem, M. A. Motalib Hossain, Ab Rahman Marlinda, Mohammad Al Mamun, Suresh Sagadevan, Zohreh Shahnavaz, Khanom Simarani, Mohd Rafie Johan
In general, three types of genetic disorders are identified in humans: single-gene disorders (mutation affecting one gene), chromosomal disorders (part of a chromosome is missing or altered), and complex disorders (mutation in two or more genes) [171]. In diagnosing genetic disorders, specific DNA sequences and the base-pair composition are both important [50]. Disorders such as Down syndrome, thalassemia, cystic fibrosis, Tay-Sachs disease, and sickle cell anemia, are among the commonest genetic disorders [172]. It is important to identify genetic disorders early for optimal management. NA biosensors have been used to detect such disorders but in a very limited way. Table 4 summarizes EC NA biosensors that have been used to detect genetic disorders. A gold electrode is used as a basic platform for the fabrication of designed probe DNA (capturing probe) in most cases. The capturing probe DNA is modified with a thiol group to facilitate conjugation on the gold electrode surface. The target analytes are detected based on the hybridization dynamics of the capturing probe, and the presence of the electroactive compound enables EC detection. These methods are very simple and easy to operate, but the design of a suitable probe and optimization of hybridization conditions along with assay parameters may be challenging.