| CODE | ANA1025 | ||||||||
| TITLE | Embryology and Congenital Anomalies | ||||||||
| UM LEVEL | 01 - Year 1 in Modular Undergraduate Course | ||||||||
| MQF LEVEL | 5 | ||||||||
| ECTS CREDITS | 3 | ||||||||
| DEPARTMENT | Anatomy | ||||||||
| DESCRIPTION | The study-unit will provide a basic knowledge of embryology and genetic concepts. The aetiology, clinical presentation and significance of congenital anomalies will be studied. This study-unit will therefore cover problems relating to basic embryology from fertilisation to gastrulation, explain the basis of genetics and genetic bases of inheritance, discuss chromosome function and chromosomal abnormalities. It will also cover Mendelian disorders as well as chromosomal and other syndromes and focus on common congenital anomalies of the heart, face, nervous system and limbs. The study unit will also study the clinical features of different chromosomal conditions as seen ante-nataly and post-nataly. The importance and availability of genetic counseling will also be covered. Study-Unit Aims: The study-unit will aim to provide a balance between theoretical aspects of basic embryology and genetics and a good working knowledge of the commoner congenital anomalies. Common congenital anomalies and their embryological derivation will be presented. The principles behind chromosomal abnormalites, gene defects and their diagnosis will be explained. The clinical features of common chromosomal and Mendelian syndromes will be presented and the related genetic counsel. Ante-natal and post-natal findings in chromosomal disorders will be presented and discussed. The issues related to genetic counseling of genetic syndromes will be discussed and the services available together with their indication presented. Learning Outcomes: 1. Knowledge & Understanding: By the end of the study-unit the student will be able to: - Know basic embryological facts; - Understand the structure of chromosomes and genes and their defects; - Know the embryological aetiology of common congenital anomalies; - Have a knowledge and clinical significance of the commoner congenital anomalies; - Know the clinical features of the common chromosomal syndromes, both ante- and post-nataly; - Recognize the different inheritance patterns; - Know about the different modes of prenatal, preimplantation diagnosis and their significance, pros and cons; - Know about the services available regarding genetic counseling. 2. Skills: By the end of the study-unit the student will be able to: - Recognize a congenital anomaly; - Recognize the difference between isolated congenital anomalies and syndromic conditions; - Recognize the different clinical features in the commoner chromosomal syndromes; - Know the difference between a gene test and a chromosomal test; - Know the implications on recurrence risk with future siblings. Main Text/s and any supplementary readings: - The Developing Human: Clinically Oriented Embryology by Keith L. Moore and T. V. N. Persaud ISBN-10: 1437720021 | ISBN-13: 978-1437720020 | Edition: 9th. - Essential Medical Genetics by Edward E Tobias, Michael Connor and Malcolm Ferguson-Smith 6th edition : Wiley-Blackwell ISBN-10: 1405169745 | ISBN-13: 978-1405169745 | Edition: 6. - T.W. Sadler, Langman's Medical Embryology Edition: 10th Paperback, 2006 ISBN-10: 0781794854 ; ISBN-13: 97807817948555. |
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| STUDY-UNIT TYPE | Lecture and Independent Study | ||||||||
| METHOD OF ASSESSMENT |
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| LECTURER/S | Edith Said |
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The University makes every effort to ensure that the published Courses Plans, Programmes of Study and Study-Unit information are complete and up-to-date at the time of publication. The University reserves the right to make changes in case errors are detected after publication.
The availability of optional units may be subject to timetabling constraints. Units not attracting a sufficient number of registrations may be withdrawn without notice. It should be noted that all the information in the description above applies to study-units available during the academic year 2024/5. It may be subject to change in subsequent years. |
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