Veidlapa Nr. M-3 (8)
Study Course Description
Prenatal Diagnosis of Genetic Pathologies
Course Code
RGN_025
Branch of Science
Clinical medicine
ECTS
23.00
Target Audience
Medicine
LQF
Level 8
Study Course Implementer
Course Supervisor
Daiga Mūrmane
Residency Speciality
Speciality
Medical Geneticist
Supervisor of Medical Speciality
Madara Rēdele
Contacts
-
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.During the time allotted for the study course, the medical genetics resident is able to demonstrate basic knowledge in prenatal diagnosis of genetic pathologies.
Skills
1.As a result of completing the study course, the medical genetics resident will be able to evaluate the results of laboratory examinations, judge the prognosis of the disease, the tactics of treatment and further care.
Competences
1.After successful completion of the study course, the medical genetics resident has acquired the mandatory competence. The medical resident’s knowledge corresponds the overall understanding of prenatal diagnosis of 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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-
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-
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Topics
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Ethical aspects of genetic counselling, discussion of complex cases, specifics of prenatal diagnosis
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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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Ethical aspects of genetic counselling, discussion of complex cases, specifics of prenatal diagnosis
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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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Ethical aspects of genetic counselling, discussion of complex cases, specifics of prenatal diagnosis
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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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Ethical aspects of genetic counselling, discussion of complex cases, specifics of prenatal diagnosis
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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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Ethical aspects of genetic counselling, discussion of complex cases, specifics of prenatal diagnosis
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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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Prenatal diagnosis of inherited and congenital anomalies of foetal development
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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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Prenatal diagnosis of inherited and congenital anomalies of foetal development
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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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Pregnancy planning for families at increased risk of giving birth to a child with congenital and inherited diseases
|
-
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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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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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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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):
23.00
Number of Residency Seminars:
15
Length (weeks):
17
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 ,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, 2010
3.
Leung, P. C. K., & Qiao, J. Human reproductive and prenatal genetics. In Human Reproductive and Prenatal Genetics, 2018
4.
Harper, J. C. Preimplantation genetic diagnosis, 2nd edition. In Preimplantation Genetic Diagnosis, 2009
5.
DiMaio, M. S., Fox, J. E., & Mahoney, M. J. Prenatal Diagnosis: Cases and Clinical Challenges. In Prenatal Diagnosis: Cases and Clinical Challenges, 2010
6.
Twining’s Textbook of Fetal Abnormalities. In Twining’s Textbook of Fetal Abnormalities, 2015
7.
Paladini, D., & Volpe, P. Ultrasound of Congenital Fetal Anomalies. In Ultrasound of Congenital Fetal Anomalies, 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. Practical Genetic Counselling (7th ed.). CRC Press, 2011
10.
Cassidy, S., Allanson, J. Management of Genetic Syndromes. Wiley-Blackwell, 2010
11.
Firth, H., Hurst, J. Oxford Desk Reference Clinical Genetics. Oxford, 2007
12.
Read, A, Donnai, D. New clinical Genetics. A guide to Genomics Medicine. Scion, 2021
13.
Dhar, S., Sandesh, N, Eble, T. Hanbook of Clinical adult Genetics and genomics. Elssevier, 2020
14.
Reardson, W. The Bedside Dysmorhologist. Oxford, 2016
15.
Jones, Kenneth L, Marilyn C. Jones, and Miguel . Campo. Smith's Recognizable Patterns of Human Malformation, 2013
16.
Norton, M.E., Scoutt, L., Feldstein, V. Callens Ultrasonography in Obstretics And Gynecology. Elsevier, 2017
17.
Hogge, A., Wilkins, I., Hills, L., Cohlan B. Sanders Structural Fetal Abnormalities. McGraw Hill Education, 2017
18.
Hollak, C., Lachmann, R. Inherited Metabolic Disease in Adults.Oxford, 2016
19.
Saudubray, F., Van den Berghe, W. Inbron Metabolic diseases. Springer, 2016
20.
Katirji, B., Kaminski, J.H, Ruff, R.L. Neuromuscular Disorders in Clinical Paractice Vol1., Vol2. Springer, 2014
21.
Govidan, R., Devarakonda, S. Cancer Genomics for the Clinician. Springer, 2019
Other Information Sources
1.
OMIM. https://omim.org
2.
3.
Genereviews. https://www.ncbi.nlm.nih.gov/books/NBK1116/
4.
Phenomizer. HPO. https://hpo.jax.org/app/tools/phenomizer
5.
Varsome. https://varsome.com/
6.
Reprotox. https://www.reprotox.org/
7.
Metagene. https://www.metagene.de/
8.
Metabolic Emergency Protocol. https://www.emergencyprotocol.net/
9.
10.
Treat NMD. https://treat-nmd.org/
11.
Vademecum Metabolicum. http://www.vademetab.org/
12.
NCCN Guidelines. https://www.nccn.org/guidelines/guidelines-detail?category=2&id=1503