Upon completion of the Prenatal Diagnostics module, students should: - have mastered the use of fundamental genetic terms and the concepts/roles associated with them; - correctly identify the different levels of investigation of genetic, molecular, or chromosomal material and the potential of associated tests; - understand and know the indications for chorionic villus sampling or amniocyte sampling in invasive prenatal diagnosis and the applications of prenatal screening; - acquire mastery of genetic tests and laboratory protocols applied in prenatal diagnosis (non-invasive and invasive).
Course Prerequisites
The subjects related to the previous courses of Applied Biology and Medical Genetics represent a foundation. The course program provides for a constant reference of its.
Teaching Methods
Frontal lectures using Power Point presentations, made available to students in the teaching section of the KIRO Moodle platform.
Assessment Methods
The learning assessment covers both modules of the Integrated Course in Genetics: Medical Genetics and Prenatal Diagnostics. The written exam lasts 90 minutes and will be administered using the KIRO testing platform in a University computer room. The exam consists of a total of 36 questions: for the Prenatal Diagnostics module, the exam includes 11 multiple-choice questions (with 5 alternative answers and only one correct answer)and one open-ended question. Only correct answers will count towards the final grade for both modules; incorrect answers will NOT be deducted. The exam results will be announced via S3 on the date of the chosen exam session, which will produce the corresponding reports.
Texts
Clementi M. Elementi di Genetica Medica, EdiSES Editore
Contents
Non-invasive and invasive prenatal diagnosis Conditions of access to invasive prenatal diagnosis Characteristics of the early stages of mammalian development Non-invasive prenatal diagnosis (screenings): ultrasound investigations, biochemical tests, the combined test Non-invasive DNA-based prenatal screening (NIP- Non Invasive Prenatal Testing) Invasive prenatal diagnosis: embryo-fetal material sampling techniques: CVS, amniocentesis, funiculocentesis. Genetic Diagnosis Pre-implantation (PGT) Cytogenetic prenatal diagnosis: examination on chorionic villi, examination on amniocytes, examination by funiculocentesis; potentialities and problems, mosaicism. Molecular prenatal diagnosis for monogenic diseases
