| Primary Speciality in Medical Genetics Offered by the Division of Human Genetics, School of Pathology, National Health Laboratory Service and University of the Witwatersrand, Johannesburg, South Africa, in the Faculty of Health Sciences.Course Co-ordinators: Professor Amanda Krause Tel: 011- 489 9219 e-mail: amanda.krause@nhls.ac.za Professor Arnold Christianson Tel: 011-489-9212 e-mail: arnold.christianson@nhls.ac.za Minimum entry qualificationsFor admission the candidate must hold a qualification to practise medicine which is registered with the Health Professions Council of South Africa and have completed the period of community service. Preference will given to applicants who have at least twelve months experience in Paediatrics and/or Obstetrics and Gynaecology and/or Internal Medicine. This experience should be obtained in a level 2 or higher facility. Training requirementsTrainees are required to spend 4 years full time in training in an HPCSA accredited unit. Trainees need to ensure that they are registered for this time with the HPCSA against their designated senior specialist numbers. Trainees also need to be registered with the University of the Witwatersrand for the MMed Medical Genetics Course outlineThe course extends over four years in which the candidate will learn the principles and applications of medical, clinical and community genetics, together with the principles and practices of genetic counselling, and the interpretation of laboratory genetic tests. At the end of four years the individual will be a competent medical geneticist. In addition, a research project is carried out and is written up as a research report. This provides the student with an introduction to research methodology, protocol writing, ethics and grant applications. There will be a formal course work component comprising tutorials, essays and case-reports. Information and skills will be applied through genetic counselling and clinical work under supervision. In addition, experience will be gained by attendance at regular departmental meetings and seminars, journal club presentations and presentations at conferences, educational meetings and community visits. The University requires individuals in training to be registered with the Faculty of Health Sciences for the 4 years. This will be in the MMed in the Specialty of Medical Genetics. It is expected that the candidate will write the College of Medicine Certificate in Medical Genetics Part 1 and Part II and will complete their MMed degree, together with their required examinations. The Course will comprise the following: Departmental Orientation Trainees will be given an orientation programme covering departmental organization, computer orientation, organization of clinics, organization of departmental patient filing and billing systems. Techniques course A techniques course is usually run in February attached to the BSc (Hons) course for four weeks. The cytogenetics course covers tissue culture from amniocentesis, chorionic villus biopsies and blood, banding and karyotyping, chromosome nomenclature, and the FISH technique. The biochemical genetics component includes an introduction to electrophoresis, enzyme assays, paternity testing and culture free aneuploidy screening. The Molecular Genetics component includes DNA extraction, PCR and an introduction to DNA sequencing and DHPLC and microarray technology. It is imperative to attend this course. MMed Medical Genetics CoursesThere are 3 separate course components- Principles and Practices of Genetic Counselling, Medical Genetics, and Clinical Genetics for Medical Geneticists. For all courses, tutorials are intended for discussions rather that didactic lectures. Readings will be provided and the individuals will be expected to take an active part. Medical Genetics and Genetic Counselling will be run through the first 2 years and will be written in Part I CMSA exams. Clinical Genetics will be run in years 3 and 4 and will be examined in Part II CMSA exams. Tutorials will take place at fixed times which will be determined by the time the course commences. All trainees will be given a detailed timetable. The core skills obtained through this course should include history taking, physical examination and clinical diagnosis; interpretation of pedigree data, use of computers in syndrome diagnosis, database searching and risk estimation, routine procedures necessary for the practice of clinical genetics, e.g. skin biopsy, blood collection, and family studies. 1. Principles and Practices of Genetic Counselling Eighty hours of formal teaching The course deals with the principles and practices of genetic counselling, which have relevance to the future counsellors and clinical geneticists. The theoretical component includes a basic counselling skills course, tutorials on the principles and techniques of counselling, communication skills, and social, cultural and legal aspects of counselling psychosocial theory of bereavement, coping skills and stress responses, including recognition of basic psychopathology, as well as community genetics and principles of screening. The practical component includes ?hands-on? genetic counselling training, with 5 case reports and 4 counselling assessments. (See Appendix A1 for detailed curriculum.) A separate year programme will be handed out 2. Medical GeneticsEighty hours of teaching. The course deals with all aspects of medical genetics, which have relevance to future genetic counsellors and clinical geneticists. It includes tutorials in cytogenetics, biochemical and molecular genetics, Mendelian and non-Mendelian inheritance, embryology, teratogens, risk calculation, formal genetic segregation analysis, including methods and interpretation of linkage analysis; statistical approaches to risk interpretation, population genetics and bioinformatics, cancer genetics. It also covers prenatal diagnostic techniques and the laboratory techniques used in medical genetics. Six essays are written for this course. . (See Appendix A2 for detailed curriculum). A separate year programme will be handed out) 3. Clinical Genetics Eighty hours of teaching. The aim is to familiarise trainees with a broad range of genetic syndromes. They will be expected to have knowledge of the clinical features, molecular basis, diagnostic tests, and recent research on the conditions selected. As it is not possible to cover all genetic conditions, tutorials will aim at dealing with common conditions and providing an approach to management of groups of conditions. In view of the small number of trained clinical geneticists in the country, an attempt is made to use all the national expertise by inviting lecturers from different departments. In addition, visiting lecturers from overseas are included when this is opportune. (See Appendix A3 for detailed curriculum). A separate year programme will be handed out Laboratory rotation Trainees will spend 4 months attached to each of the diagnostic laboratories ? Molecular Genetics, Cytogenetics, and Serogenetics. During this time they will be involved in weekly meetings and activities of the laboratory, will review results and reports with the laboratory supervisor and/or senior clinician affiliated to the laboratory. This is intended to be sufficient to acquire the necessary experience and competence in interpretation of the results of laboratory testing in these areas. Hands-on experience is recommended in at least one of these disciplines. Research Report As the medical geneticist posts are within an academic department, it is anticipated that trainees will embark on research activities during their second year. There will be a supervised research project on an original topic acceptable to the student and supervisor in the field of medical genetics. The student will be expected to use their acquired skills in medical genetics and counselling to carry out this project and report. It is intended that the project be commenced in the second year. A detailed protocol for the project needs to be submitted to the Higher Degrees Committee of the Faculty of Health Sciences. Ethics approval will need to be obtained through the Committee for Research on Human Subjects. The project will be written up in a form approved by the supervisor and will be submitted for examination purposes prior to writing Part II examinations. The report should not exceed 60 pages, including references. Students will be expected to present their projects to the Department of Human Genetics at the Thursday Seminar. Clinic attendanceAs this is a hands-on course, it is expected that registrars will be in the Division during working hours. They will be allocated desk-space in the clinician/counsellors area of the division, where there are adequate computers and resources available. They will attend all genetic counselling clinics, initially as observers, but later as their competence grows, as supervised and independent counsellors. They will be allocated to particular clinics/counsellors. Teaching and mentoring takes place at the clinics and at the post-clinic consultations. They will be expected to start writing counselling letters to patients from the beginning of the course, and to be present when telephonic follow-up is done on patients. Registrars will also be expected to handle clinical calls coming in to the Division and to fit in with the call roster. Formal assessmentAt six monthly intervals the registrars will meet with the course co-ordinators to discuss progress and to provide feedback. The process is designed to be supportive and instructive of the student rather than judgmental or critical. These assessments are also required by the College of Medicine of South Africa to ensure adequate supervision and training. Other InformationGenetic Counselling ClinicsTrainees are expected to attend clinics regularly on a roster basis. This is where trainees will acquire counselling skills as well as hands-on clinical experience, initially by observation and then by undertaking their own interviewing and counselling, as their competence increases. The department holds genetic counselling clinics as follows:
Haemophilia Clinic Cystic Fibrosis Clinic Haemophilia Clinic
Metabolic Clinic Cystic Fibrosis Clinic
Johannesburg Hospital Monthly Cardiac Clinic
Johannesburg Hospital Clinical Cases Johannesburg Hospital monthly Neurogenetic clinic TMI Visual Impairment Clinic Johannesburg Hospital Monthly craniofacial clinic Other patients may be seen on an ad hoc basis. Patients at other hospitals who are too ill to attend our clinics may need to be evaluated. Outreach clinicsThese are undertaken from time to time, both in the Gauteng region and further afield eg Northern Cape, Eastern Cape, Mpumalanga and Northern Province. These are opportunities for trainees to see large numbers of cases, and they will be expected to attend. Regular Departmental EventsMonday 08h30-09h30: Clinical Division Business Meeting ? This is a fortnightly business and administrative meeting, with discussion of all administrative issues impacting on the clinical division. All clinicians, counsellors, trainees and students to attend. Monday 09h30-10h30: Clinicians Case Discussions ? This is a weekly academic meeting to discuss interesting cases and management problems. All clinicians to attend Tuesday 12h30-14h00: Post Clinic Meeting ? discussion of all patients from previous week. This is an important learning session with input from all clinical and counselling staff and students. This is as opportunity for all individuals involved in clinics with the Department of Human Genetics, NHLS to meet and discuss issues. This is a CPD accredited activity Thursday 09h00-10h00: Human Genetics Seminar: This is a forum for presentation of research from the Human Genetics and related fields, Seminars are given by members of the Department as well as invited lecturers from other Departments in the NHLS and University, and from other academic centres nationally and internationally. A trainee would be expected to present at this venue once during their second year. This is a CPD accredited activity Wednesday 12h00-14h00: Dysmorphology Meeting This is held approximately monthly. The dates are set for the year. This is a CPD accredited activity. Tutorials for MBBCh II and III and BSc (Hons) Lectures and tutorials are given by the Department in the MBBCh II & III courses. There is also a BSc (Hons) course in Human Genetics in the Department. These courses may be useful to enhance core knowledge in human genetics, where these tutorials fit in with the rest of the schedule. Field trips Outreach clinics in several provinces and associate research projects, particularly FAS. Trainees expected to participate when required. Working hoursThese are generally 8h30-17h00, although trainees would be expected to attend meetings and undertake clinics that take place outside of these times. LeaveThe total number of leave days specified in the contract should preferably be taken during the following holiday periods: 2 weeks at Easter Month of July Mid- December to mid January At these times there will be no formal teaching. However, if a person is not on leave they should attend all regular meetings and clinics at these times. If necessary to take leave at other times, this should be discussed with the Head of the Division well in advance. All leave needs to be coordinated with the other clinicians and the other registrars, through the Head of Clinical Section. Log booksIt is essential to keep a record of all the patients seen, including name, date of birth, age, referring diagnosis, final diagnosis, date seen, counselling undertaken and student?s role with the patient (observer or counsellor). It should be signed on a weekly basis by the clinician/counsellor involved with the case. Trainees need to log a minimum 100 patients personally seen in a supervised situation per year. Call RostersThere is a call roster for the clinicians of the Department. An individual is on call for a week at a time. The clinician on call is generally expected to handle all clinical calls coming into the Department. These are generally calls regarding new patients or occasionally patients seen a number of years ago. Ongoing follow-up of patients is generally handled by the clinician that appraised the case originally. Trainees will be placed on a call roster after about 6 weeks in the Department. Resource centreThe clinical/counselling division has a resource centre of relevant books. The books/CD?s are for reference and should not be removed from the centre for any period of time. If they are removed from the room, this needs to be recorded in the loan book. A number of textbooks are still in individual clinician?s offices. They may be consulted, but should not be removed without it being recorded. A list is available of the textbooks and their locations. APPENDIX A1 List Of Tutorials for Principles and Practices of Genetic Course (HUMG7012) Basic counselling skills course ? minimum 40 hours and minimum 40 hours experiential time supervised by qualified medical geneticists and genetic counsellors Pedigree Drawing Family history taking Confidentiality and autonomy Adult onset disease Predictive testing Testing of children Termination of pregnancy Multiple miscarriages Prenatal diagnosis Screening tests Diagnostic tests Support groups and resources Genetics and public health Grief counselling Family development and dynamics Child development APPENDIX A2List Of Tutorials for Medical Genetics Course (HUMG7013) Cellular and Molecular Basis of inheritance The cell Structure and function of DNA, RNA and proteins Transcription Translation Gene regulation Mutations and mutagenesis DNA repair mechanisms Mitosis and meiosis Cell cycle Pedigree construction and analysis Cytogenetics and chromosome abnormalities Chromosome nomenclature Chromosome structure Chromosome number Sex chromosomes Methods of chromosome analysis Karyotyping FISH Molecular cytogenetics Chromosome abnormalities Numerical abnormalities Structural abnormalities Microdeletion syndromes Anatomy, Physiology And Embryology Principles of embryology and application to dysmorphology Fertilisation and gastrulation Physiological changes of pregnancy and adaptation of the neonate/infant to extra-uterine life Developmental genetics Gender determination Developmental gene families Twinning Candidates are expected to have a broad knowledge of the anatomy, physiology and embryology of the major organ systems and their application to medical genetics. Cardiovascular system Respiratory system Gastro-intestinal system Reticulo-endothelial system Urogenital system Musculoskeletal system Central and peripheral nervous system Sensory systems Ophthalmic system Auditory system Olfactory system Tactile system Endocrine system Reproductive system and pregnancy Patterns of inheritance Mendelian inheritance Autosomal dominant inheritance Autosomal recessive inheritance X-linked dominant inheritance X-linked recessive inheritance Y-linked inheritance Polygenic and multifactorial inheritance Non-Mendelian Inheritance X-chromosome inactivation Mitochondrial inheritance Dynamic repeat disorders Genomic imprinting Mosaicism Complex disorders Population genetics Hardy Weinberg equilibrium principle Founder effect Gene flow Genetic drift Genetic polymorphism Segregation analysis Genetic linkage Consanguinity Twins and twinning Molecular genetics Principles of recombinant DNA technology Techniques for DNA analysis and genetic testing Linkage analysis Mutation analysis DNA polymorphisms DNA sequencing PCR Southern blotting RNA analysis FISH Microarray technology Flow cytometry Monoclonal antibodies New technology Indications for genetic testing Identifying disease genes Gene therapy Developmental genetics Gender determination Developmental gene families Biochemical genetics Principles of biochemical analysis Inborn errors of metabolism Urea cycle disorders Disorders of amino-acid metabolism Organic acid disorders Disorders of carbohydrate metabolism Disorders of steroid metabolism Disorders of lipid metabolism Lysosomal storage disorders Disorders of purine/pyrimidne metabolism Disorders of porphyrin biosynthesis Peroxisomal disorders Parentage Testing Forensic testing Bioinformatics Knowledge and use of electronic databases Biostatistics Statistical and epidemiological techniques Mendelian disorders including risk calculations Bayes theorem Empiric risks Consanguinity Evidence based medicine Pharmacogenetics Immunogenetics Cancer Genetics Oncogenes Tumour suppressor genes Repair genes Familial cancers Breast cancer Bowel Cancers Multiple endocrine neoplasias Clinical Genetics Congenital Abnormalities Teratogens Common single gene disorders Common multifactorial disorders Common chromosome abnormalities Clinical features, genetic principles and molecular basis of common diseases including: Haemoglobinopathies Fragile X syndrome Cystic fibrosis Albinism Haemophilia Duchenne muscular dystrophy Huntington disease Myotonic dystrophy Neurofibromatosis Spinal muscular atrophy Carrier detection and predictive testing Genetic factors in common diseases Diabetes Hypertension Cardiovascular disease Psychiatric disorders Prenatal diagnosis Techniques used Amniocentesis CVS Cordocentesis Ultrasound Biochemical screening Preimplantation genetic diagnosis New techniques Termination of Pregnancy Act Reproductive options HIV/AIDS and other STDs Public Health Genetics Genetic Screening Birth defect surveillance Genetic Registers Epidemiology of birth defects Care and prevention of genetic disorders Community Genetics Parent support groups and NGOs Medical ethics Informed consent Testing of minors Genetic screening Eugenics Ethics and the law Social responsibilities of medical geneticists Ethnicity and health Medico-legal issues Paediatrics in Genetics Examination of the newborn Examination of child Growth Child development Future genetics Genomics Proteomics Gene therapy Pharmacogenetics APPENDIX A3 List Of Tutorials for Clinical Genetics (HUMG7014) Genetic history-taking Pedigree construction and analysis Dysmorphology Principles of normal and abnormal embryogenesis Malformations, dysplasias, disruptions and deformations Approach to the fetus with birth defects Examination of the fetus Fetal management Approach to the child with birth defects Dysmorphology history Dysmorphology examination Dysmorphology diagnosis Use of databases Common chromosomal abnormalities Trisomy 13, 18 and 21 Sex chromosome abnormalities ? Turner syndrome, XXY, XYY, XXX Triploidy Deletion/Duplication syndromes Wolf-Hirschorn syndrome Cri du chat syndrome Velocardiofacial syndrome Prader Willi syndrome Angelman syndrome Miller-Dieker syndrome Williams syndrome Tricho-rhino-phalangeal syndrome Smith-Magenis syndrome Pallister-Killian syndrome Multifactorial disorders Neural tube defects Cleft-lip and ?palate Talipes equinovarus Congenital heart disease Common complex disorders eg diabetes, hypertension, psychiatric disorders Teratogens Principles of teratogenesis Alcohol Drugs: Warfarin Anti-epileptics Retinoic Acid Thalidomide Infections: Rubella Toxoplasmosis CMV Syphilis HIV Varicella Parvovirus Maternal Phenylketonuria Hyperthermia Maternal disorders Thyroid Diabetes Hypertension Cardiac disease SLE Malformations and disruptions ADAM sequence Amniotic band sequence Limb-body wall sequence Connective Tissue Disorders Osteogenesis imperfecta Ehlers-Danlos syndrome Marfan syndrome Pseudoxanthoma elasticum Beals syndrome Homocystinuria Stickler syndrome Cutis laxa Skeletal dysplasias Including classification, terminology, clinical and radiological assessment Osteochondrodysplasias Achondroplasia Hypochondroplasia Thanatophoric dysplasia Achondrogenesis syndromes Short-rib polydactyly syndromes Spondyloepiphyseal dysplasia syndromes Metaphyseal dysplasia syndromes Chondrodysplasia punctata syndromes Osteopetrosis Sclerosteosis Pyknodystosis Cleido-cranial dysostosis Campomelic dysplasia Craniosynostosis syndromes Apert syndrome Pfeiffer syndrome Crouzon syndrome Saethre-Chotzen syndrome Frontonasal dysplasia Greig syndrome Antley-Bixler syndrome Multiple exostoses syndrome Nail-patella syndrome Langer mesomelic dysplasia Acrodysostosis Albright hereditary osteodystrophy Paget?s disease Kyphomelic dysplasia Klippel-Feil syndrome Jarcho-Levine syndrome Limb defects Polydactyly syndromes Syndactyly syndromes Ectrodactyly syndromes Ectrodactyly-ectodermal dysplasia-clefting syndrome Adams-Oliver syndrome Radial ray abnormality syndromes Thrombocytopaenia absent radius syndrome Fanconi anaemia syndromes Ulna ray abnormality syndromes Holt-Oram syndrome Phocomelia Robert syndrome Grebe syndrome Poland sequence Pterygium syndromes Femoral hypoplasia-unusual facies syndrome Sirenomelia Caudal dysplasia sequence Short stature syndromes Russel-Silver syndrome Rubinstein-Taybi syndrome Dubowitz syndrome Brachmann de Lange syndrome Johannsen-Blizzard syndrome Seckel syndrome Hallermann-Streiff syndrome Ellis van Creveld syndrome Other common syndromes Noonan syndrome Costello syndrome Cardio-facio-cutaneous (CFC) syndrome rskog syndrome Robinow syndrome Opitz syndromes Floating harbour syndrome Kabuki syndrome Facial and limb defects Miller syndrome Nager syndrome Townes-Brocks syndrome Mohr syndrome Oculo-dento-digital syndromes Oto-palato-digital syndromes FG syndrome Larsen syndrome Cranio -facial defects Moebius sequence Blepharophimosis syndrome Robin sequence Van der Woude syndrome Fronto-nasal dysplasia Fraser syndrome Branchio-oculo-facial syndrome Branchio-oto-renal syndrome Inborn errors of metabolism and storage diseases Urea cycle disorders Ornithine trans-carbamylase deficiency Disorders of amino-acid metabolism Phenylketonuria Alkaptonuria Homocystinuria Maple syrup urine disease Disorders of carbohydrate metabolism Galactosaemia Hereditary fructose intolerance Glycogen storage diseases Pompe?s disease (GSD II) McArdle?s disease (GSDV) Von Gierke?s disease (GSDI) Disorders of steroid metabolism Congenital adrenal hyperplasia Androgen insensitivity Disorders of lipid and lipoprotein metabolism Familial hypercholesterolaemia Smith-Lemli-Opitz syndrome Lysosomal storage disorders Mucopolysaccharidoses Hurler/Scheie syndrome (MPSI) Hunter syndrome (MPS II) Sanfilippo syndrome (MPSIII) Morquio syndrome (MPSIV) Maroteaux-Lamy syndrome (MPSVI) Sly syndrome (MPSVII) Sphingolipidoses Tay-Sachs disease Gaucher disease Niemann Pick disease Canavan disease Disorders of purine/pyrimidne metabolism Lesch-Nyhan syndrome Adenosine deaminase deficiency Organic acid disorders Methylmalonic acidaemia Proprionic acidaemia Disorders of porphyrin biosynthesis Peroxisomal disorders Zellweger syndrome Adrenoleukodystrophy Fatty Acid Transport and Oxidation disorders Copper metabolism Wilson disease Menkes disease Iron metabolism Haemochromatosis Hamartoses Neurofibromatosis Tuberous sclerosis Incontinentia pigmenti Hypomelanosis of Ito Sturge-Weber syndrome Von Hippel Lindau disease Linear sebaceous nevus syndrome Goltz syndrome Aicardi syndrome Ectodermal dysplasias Rapp-Hodgkin EDS Hypohidrotic EDS Overgrowth syndromes Beckwith-Wiedemann syndrome Weaver syndrome Sotos syndrome Proteus syndrome Klippel-Trenaunay-Weber syndrome Marshall Smith syndrome Cancer syndromes Inherited breast cancers Inherited bowel cancers Familial adenomatous polyposis coli Hereditary non-polyposis cancer Peutz-Jeughers syndrome Multiple endocrine neoplasias Von Hippel Lindau Retinoblastoma Wilms tumour Gorlin syndrome Chromosome breakage syndromes Ataxia telangiectasia Fanconi anaemia syndromes Cockayne syndrome Progeria Bloom syndrome Xeroderma pigmentosa Brain anomalies Neural tube defects Lissencephaly Holoprosencephaly Dandy Walker syndromes Agenesis of corpus callosum syndromes Microcephaly Macrocephaly Hydrocephaly Mental retardation syndromes X-linked mental retardation Fragile X mental retardation syndrome Alpha-thalassaemia mental retardation syndromes Coffin Lowry syndrome MASA syndrome Other syndromes Fryns syndrome Cohen syndrome Pallister-Hall syndrome Bardet-Biedl syndromes Coffin-Siris syndrome Brain and neuro-muscular syndromes Arthrogryposis syndromes Walker-Warburg syndrome M rden-Waker syndrome Acro-callosal syndrome Freeman-Sheldon syndrome Pena-Shokier syndrome Meckel-Gruber syndrome Hydrolethalus syndrome Neu-Laxova syndrome Cerebro-oculo-facial-skeletal syndrome Schwartz-Jampel syndrome Dementias Huntington disease Alzheimer disease Parkinson disease Epilepsies Associations VATER VACTERL MURCS CHARGE Oculo-auriculo-vertebral spectrum Deafness syndromes W rdenburg syndrome Treacher Collins syndrome Oculo-auriculo-vertebral spectrum Pendred syndrome Non-syndromic deafness Visual impairment syndromes Colour blindness Albinism Hereditary retinal and choroidal degeneration syndromes Macular degeneration syndromes Cataract syndromes Retinoblastoma Lenz micropthalmia syndromes Peters anomaly Congenital blindness Dermatological disorders Ectodermal dysplasias Albinism Pigmentary abnormalities Piebaldism Icthyoses Keratoderma Keratolytic winter erythema Epidermolysis bullosa syndromes Xeroderma pigmentosum Porphyria Pigmentation disorders ? piebaldism Lipoid proteinosis Skin cancers Respiratory system Cystic fibrosis Kartagener syndrome Asthma Dynamic repeat disorders Fragile X Myotonic dystrophy Huntington disease Spinocerebellar ataxia Friedreich?s ataxia Neuromuscular disorders Muscular dystrophies and myopathies Duchenne and Becker muscular dystrophy Emery-Dreifuss muscular dystrophy Autosomal recessive muscular dystrophy Limb-girdle dystrophy Facio-scapulo-humeral dystrophy Congenital myopathies Spinal muscular atrophy Hereditary motor and sensory neuropathies Myotonic dystrophy Non-dystrophic myotonias Periodic paralysis Myotonia congenital Motor neurone disease Movement disorders Huntington disease Spino-cerebellar ataxias Immunological disorders Immuno-deficiency disorders Disorders of granulocyte function Autoimmunity Haematological disorders Inherited bleeding/clotting disorders Haemophilias Von Willebrands disease Factor V Leiden Antithrombin 3 deficiency Thrombocytopaenia absent radius Inherited anaemias Haemoglobinopathies and thalassaemias Red cell membrane disorders Red cell disorders Fanconi anaemia Blood groups Rhesus feto-maternal incompatibility Leukaemias and lymphomas Urogenital disease Congenital renal or urinary tract disorders Renal cystic disease Nephrotic syndrome Renal tubular acidosis Renal and urogenital tumours True hermaphroditism Androgen insensitivity syndrome Infertility Cardiovascular system Congenital heart disease Velo-cardiofacial syndrome Cardiomyopathies Familial dysrythmias and conduction disorders Disorders of venous and lymphatic system Pregnancy Teratogenic and harmful drugs Maternal medical problems Diabetes Cardiac Endocrine Epilepsy SLE Prevention of neural tube defects HIV/AIDS Pregnancy monitoring Identification of high risk pregnancy Prenatal diagnosis Chorionic villus sampling Ultrasound Amniocentesis Cordocentesis Preimplanation genetic diagnosis |
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