Genetics in Prenatal diagnosis and reproduction

Year
1
Academic year
2023-2024
Code
02037986
Subject Area
Laboratorial Genetics
Language of Instruction
Portuguese
Other Languages of Instruction
English
Mode of Delivery
Face-to-face
Duration
SEMESTRIAL
ECTS Credits
4.0
Type
Compulsory
Level
2nd Cycle Studies - Mestrado

Recommended Prerequisites

Knowledge of Biology, Biochemistry in the pre graduate cycle of courses in the scope of Biomedical Sciences.

Teaching Methods

For the lectures it will be used powerpoint presentations, handouts/articles/or other material that teachers understand to be the best suited to the contents related to infertility genetic causes and diagnosis, pre-implantation genetics, prenatal diagnosis, the impact of the new technologies, standards and guidelines in this area of clinical laboratory genetics. The test will be carried out in accordance with specific pedagogical objectives of the module and the number of questions will be representative of the importance of the issue to be evaluated.

Learning Outcomes

Describe how human reproduction works at the level of organ structure, function and regulation

Describe prenatal human development from fertilization to organogenesis

Analyse aspects of genetics of male and female infertility.

Enumerate and describe assisted reproductive techniques.

Analize the importanxe and context of preimplantation diagnosis)

Analyze the genetic tests associated with reproduction: Prenatal screening (biochemical, ultrasound, integrated); Newborn screening; Carrier testing.

Describe the technologies used in prenatal diagnosis (invasive and non-invasive); advantages and disadvantages

Analyse the impact of NGS sequencing in reproductive medicine 

Analyse the Standards and Guidelines for Clinical Genetics Laboratories in prenatal diagnosis and reproductive genetics.

Work Placement(s)

No

Syllabus

Prenatal human development from fertilisation to organogenesis

Genetics of male and female infertility-

Assisted reproductive techniques

Preimplantation diagnosis)

Genetic tests associated with reproduction: Prenatal screening (biochemical, ultrasound, integrated); Newborn screening; Carrier testing.

Technologies used in prenatal diagnosis (invasive and non-invasive); advantages, limitations and disadvantages

Impact of genome sequencing in reproductive medicine 

Standards and Guidelines for Clinical Genetics Laboratories in prenatal diagnosis and reproductive genetics.

Head Lecturer(s)

Isabel Maria Marques Carreira

Assessment Methods

Assessment
Presentation of a theme or discussion of a problem case in the field of human genetics, being evaluated the content, communication skills and teamwork: 20.0%
The evaluation can involve various formats (multiple questions, true or false, short or long answers: 80.0%

Bibliography

Thompson & Thompson Genetics in Medicine, 8th Edition by Robert L. Nussbaum, Roderick R. McInnes, Huntington F Willard
Artigos científicos originais e de revisão, no âmbito dos temas em discussão.