Veidlapa Nr. M-3 (8)
Study Course Description
Prenatal Diagnosis of Genetic Pathologies
Course Code
RGN_041
Branch of Science
Clinical medicine; Medicinal Genetics
ECTS
11.00
Target Audience
Medicine
LQF
Level 8
Study Course Implementer
Course Supervisor
Madara Rēdele
Residency Speciality
Speciality
Medical Geneticist
Supervisor of Medical Speciality
Madara Rēdele
Contacts
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About Study Course
Objective
To introduce the medical genetics resident to prenatal diagnosis of hereditary and congenital foetal development anomalies, pregnancy planning for families at increased risk of giving birth to a child with congenital anomalies, antenatal care possibilities, screening of chromosomal and structural pathologies and ethical aspects at the Clinic of Medical Genetics and Prenatal Diagnosis.
Learning Outcomes
Knowledge
1.Medical genetics resident defines the role of genetic factors in maintaining health, as well as in the development of congenital and multi-factorial diseases, role of genes and teratogens in the development of human congenital anomalies. To describe how changes in chromosomes and DNA alter the function or number of genes, major monogenic and other forms of inheritance. To describe the clinical signs of the most common congenital monogenic and chromosomal diseases. To understand the clinical significance of penetrance, variable expression, anticipation and new mutations.
Skills
1.To collect the family anamnesis, interpret the family tree, recognise patients with the risk of developing genetic diseases, provide genetic counselling in accordance with the established objectives, methods and accepted practice, calculate the risk of recurrence of monogenic diseases. To explain the concept of risk to the patient in an understandable way, provide the genetic information in an understandable way and allow the patient and their family to make a decision.
Competences
1.The medical genetics resident learns the sections of genetic anamnesis, draws a family tree, assesses the patient’s physical condition and the basics of dysmorphology; determines types of heredity, creates an examination plan based on international guidelines and evidence-based databases, is able to differentiate possible genetic pathology, determine heredity risk factors, provide counselling to patients and families with certain genetic pathologies.
Assessment
Individual work
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Title
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% from total grade
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Grade
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1.
Individual work |
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-
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To search for phenotypic and genotypic correlations of genetic variation using evidence-based electronic databases;
Using evidence-based databases of scientific literature, to create an individualised disease description for patients with a syndromic-monogenic, chromosomal or inherited pathology.
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Examination
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Title
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% from total grade
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Grade
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|---|---|---|
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1.
Examination |
-
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-
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At the end of the course, teaching staff:
1. Assesses the practical skills acquired by medical genetics resident on a 10-point scale, recording the assessment in the medical resident’s book.
2. Assesses the theoretical knowledge of the medical genetics resident on a 10-point scale after a written examination – a multiple-choice test, recording the assessment in the medical resident’s book.
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Study Course Theme Plan
FULL-TIME
Part 1
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Seminar
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Modality
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Location
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Topics
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Pregnancy planning for families at increased risk of giving birth to a child with congenital and inherited diseases
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Seminar
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Modality
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Location
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-
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-
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Topics
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Antenatal care for families at increased risk of giving birth to a child with congenital and inherited diseases
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-
Seminar
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Modality
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Location
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|---|---|---|
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-
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-
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Topics
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Antenatal care for families at increased risk of giving birth to a child with congenital and inherited diseases
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-
Seminar
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Modality
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Location
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|---|---|---|
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-
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Topics
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Antenatal care for families at increased risk of giving birth to a child with congenital and inherited diseases
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-
Seminar
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Modality
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Location
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-
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Topics
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Genetic counselling: indications for referral to the Clinic of Medical Genetics and Prenatal Diagnosis, for prenatal counselling
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Seminar
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Modality
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Location
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|---|---|---|
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-
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-
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Topics
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Genetic counselling: indications for referral to the Clinic of Medical Genetics and Prenatal Diagnosis, for prenatal counselling
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Seminar
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Modality
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Location
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|---|---|---|
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-
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-
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Topics
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Genetic counselling: indications for referral to the Clinic of Medical Genetics and Prenatal Diagnosis, for prenatal counselling
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Total ECTS (Creditpoints):
11.00
Number of Residency Seminars:
7
Length (weeks):
8
Final Examination:
Residency exam (Theory and practice)
Bibliography
Required Reading
1.
Gross, S. J. Introduction to Perinatal Disorders and Reproductive Genetics. In Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics. https://doi.org/10.1016/b978-0-12-815236-2.00001-1, 2022
2.
Milunsky, A., & Milunsky, J. M. Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment: 6th Edition. In Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment. https://doi.org/10.1002/9781444314342, 2010
3.
Leung, P. C. K., & Qiao, J. Human reproductive and prenatal genetics. In Human Reproductive and Prenatal Genetics. https://doi.org/10.1016/C2016-0-05333-0, 2018
4.
Harper, J. C. Preimplantation genetic diagnosis. In Preimplantation Genetic Diagnosis, 2nd Edition. https://doi.org/10.1017/CBO9780511581571, 2009
5.
DiMaio, M. S., Fox, J. E., & Mahoney, M. J. Prenatal Diagnosis: Cases and Clinical Challenges. In Prenatal Diagnosis: Cases and Clinical Challenges. https://doi.org/10.1002/9780470696262, 2010
6.
Twining’s Textbook of Fetal Abnormalities. In Twining’s Textbook of Fetal Abnormalities. https://doi.org/10.1016/c2010-0-67979-x, 2015
7.
Paladini, D., & Volpe, P. Ultrasound of Congenital Fetal Anomalies. In Ultrasound of Congenital Fetal Anomalies. https://doi.org/10.4324/9780429462450, 2018
8.
Stevenson, R., Hall, J., Everman, D., & Solomon, B. (Eds.), Human Malformations and Related Anomalies. Oxford, UK: Oxford University Press, 2015
9.
Harper, P. (2011). Practical Genetic Counselling (7th ed.). CRC Press, 2011
10.
Firth, H., Hurst, J. Oxford Desk Reference Clinical Genetics. Oxford, 2007
11.
Read, A, Donnai, D. New clinical Genetics. A guide to Genomics Medicine. Scion, 2021
12.
Dhar, S., Sandesh, N, Eble, T. Hanbook of Clinical adult Genetics and genomics. Elssevier, 2020
13.
Reardson, W. The Bedside Dysmorhologist. Oxford, 2016
14.
Jones, Kenneth L, Marilyn C. Jones, and Miguel . Campo. Smith's Recognizable Patterns of Human Malformation, 2013
15.
Norton, M.E., Scoutt, L., Feldstein, V. Callens Ultrasonography in Obstretics And Gynecology. Elsevier, 2017
16.
Hogge, A., Wilkins, I., Hills, L., Cohlan B. Sanders Structural Fetal Abnormalities. McGraw Hill Education, 2017
17.
Hollak, C., Lachmann, R. Inherited Metabolic Disease in Adults.Oxford, 2016
18.
Saudubray, F., Van den Berghe, W. Inbron Metabolic diseases. Springer, 2016
19.
Katirji, B., Kaminski, J.H, Ruff, R.L. Neuromuscular Disorders in Clinical Paractice Vol1., Vol2., Springer, 2014
20.
Govidan, R., Devarakonda, S. Cancer Genomics for the Clinician. Springer, 2019
21.
Cassidy, S., Allanson, J. Management of Genetic Syndromes. Wiley-Blackwell, 2010
Other Information Sources
1.
Reprotox. https://www.reprotox.org/
2.
Metagene. https://www.metagene.de/
3.
Vademecum Metabolicum. http://www.vademetab.org/
4.
Metabolic Emergency Protocol. https://www.emergencyprotocol.net/
5.
6.
Treat NMD. https://treat-nmd.org/
7.
NCCN Guidelines. https://www.nccn.org/guidelines/guidelines-detail?category=2&id=1503
8.
Varsome. https://varsome.com/
9.
OMIM. https://omim.org
10.
Genereviews https://www.ncbi.nlm.nih.gov/books/NBK1116/
11.
12.
Phenomizer. HPO. https://hpo.jax.org/app/tools/phenomizer