WebYear OSCE Stations. EpiPen [June 2013, June 2016] Counselling: Cystic fibrosis genetics; Down syndrome DMD genetics VSD mx UTI Rx … WebCSA Down's Syndrome explained - Works well with no mention of chromosomes!CSA - …
Genetic Counseling for Down syndrome - FDNA Health
WebApr 10, 2024 · Today I would be writing down about how to break bad news. It’s an often repeated station at the OSCE. It tests mainly about the way we break down the information to the patient. You need to be … Down’s syndrome (DS), also known as trisomy 21, is the most common congenital chromosomal abnormality, occurring in about 1 in 800 to 1 in 1000 live births.1,2 The presence of additional genetic material from chromosome 21 results in characteristic phenotypic features and increased … See more Trisomy 21 typically occurs via one of the following mechanisms:4,5 1. Meiotic non-disjunction of the maternal chromosome 21 (95%) 2. Robertsonian translocation of unbalanced chromosomal material, usually between … See more Maternal age is the strongest risk factor for Down’s syndrome.23 Table 1. Risk of Down’s syndrome (live births) in relation to maternal age at … See more Differential diagnosis of Down’s syndrome includes, but is not limited to: 5,24 1. Congenital hypothyroidism 2. 49 XXXXY chromosome and high-order X chromosome … See more henry\u0027s depot sanford fl
Communication Station Guide MRCPCH Clinical Exam Revision
Webfor amniocentesis. Down syndrome screening revealed a high risk of 1:8. Obtain her … WebMay 27, 2011 · Genetic counselors should balance the negative aspects of Down syndrome, such as birth defects, medical complications, and developmental delay, with positive aspects like available treatments, therapies, and the ability for people with Down syndrome and their families to enjoy a high quality of life (Bryant et al. 2001 ). WebPractice OSCE Scenario A Patient information You are a previously healthy 27 year-old woman. You have been having chest discomfort about twice a week for the last 2 weeks. It is sharp, associated with difficulty getting a deep breath. It seems to come on mostly at work or when you are driving. It lasts about a half-hour at a time. henry\\u0027s diner