Veidlapa Nr. M-3 (8)

Study Course Description

Prenatal Diagnosis of Genetic Pathologies

Main Study Course Information

Course Code

RGN_020

Branch of Science

Clinical medicine; Medicinal Genetics

ECTS

20.00

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 diagnostics of hereditary and congenital foetal development anomalies, pregnancy planning for families with elevated risk to give birth to a child with congenital anomalies, antenatal care possibilities, screening of chromosomal and structural pathologies and ethical aspects at the Medical genetics prenatal diagnostics clinic.

Learning Outcomes

Knowledge

1.Medical genetics resident defines the role of genetic factors in health maintenance, as well as in the development of congenital and multi-factorial diseases, role of genes and teratogenes in development of human congenital anomalies. To describe how changes in chromosomes and DNA change the function or number of genes, main monogenetic and other types of inheritance. To describe the clinical signs of the most common congenital monogenetic and chromosomal diseases. To understand the clinical meaning of penetrance, variable expression, anticipation, and new mutation.

Skills

1.To gather family anamnesis, draw and interpret the family tree, recognize patients with a genetic disease of risks of development of a genetic disease, to give genetic advice in accordance with the goals, methods and practice adopted, to calculate the monogenetic diseases’ recurrence risk, explain the concept of risk to a patient understandably, provide the genetic information understandably, and to allow the patient and his/her family to make the decision.

Competences

1.Medical genetics resident learns the chapters of genetic anamnesis, to draw a family tree, assess the patient's physical condition, and the basics of dysphormology; to determine types of heredity, to create an examination plan based on international guidelines and evidence-based data bases, to be able to differentiate a potential genetic pathology, to determine hereditary risk factors, to give advice to patients and families with certain genetic pathologies.

Assessment

Individual work

Title	% from total grade	Grade
1. Individual work	-	-

Examination

Title	% from total grade	Grade
1. Examination	-	-

Study Course Theme Plan

FULL-TIME

Part 1

Seminar

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Topics

Seminar

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Topics

Seminar

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Topics

Seminar

Modality	Location
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Topics

Seminar

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Topics

Seminar

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Topics

Seminar

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Topics

Total ECTS (Creditpoints):

20.00

Number of Residency Seminars:

Length (weeks):

Final Examination:

Residency exam (Theory and practice)

Bibliography

Required Reading

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

Milunsky, A., & Milunsky, J. M. Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment: Sixth Edition. In Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment: Sixth Edition. https://doi.org/10.1002/9781444314342, 2010

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

Harper, J. C. Preimplantation genetic diagnosis, second edition. In Preimplantation Genetic Diagnosis, Second Edition. https://doi.org/10.1017/CBO9780511581571, 2009

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

Twining’s Textbook of Fetal Abnormalities. In Twining’s Textbook of Fetal Abnormalities. https://doi.org/10.1016/c2010-0-67979-x, 2015

Paladini, D., & Volpe, P. Ultrasound of Congenital Fetal Anomalies. In Ultrasound of Congenital Fetal Anomalies. https://doi.org/10.4324/9780429462450, 2018

Stevenson, R., Hall, J., Everman, D., & Solomon, B. (Eds.), Human Malformations and Related Anomalies. Oxford, UK: Oxford University Press, 2015

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

Reprotox. https://www.reprotox.org/

Metagene. https://www.metagene.de/

Vademecum Metabolicum. http://www.vademetab.org/

Metabolic Emergency Protocol. https://www.emergencyprotocol.net/

NDC. https://neuromuscular.wustl.edu/

Treat NMD. https://treat-nmd.org/

NCCN Guidelines. https://www.nccn.org/guidelines/guidelines-detail?category=2&id=1503

Varsome. https://varsome.com/

OMIM. https://omim.org

10.

Genereviews https://www.ncbi.nlm.nih.gov/books/NBK1116/

11.

Orphanet https://www.orpha.net/consor/cgi-bin/index.php

12.

Phenomizer. HPO. https://hpo.jax.org/app/tools/phenomizer