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90946 - Prenatal Molecular Diagnosis

Academic Year 2022/2023

                
                        Docente:
                        Antonio Farina
                    
                        Credits:
                        2
                    
                        SSD:
                        MED/40
                    
                        Language:
                        English
                    
                        Teaching Mode:
                        Traditional lectures
                        
                            Campus:
                            Bologna
                        
                            Corso:
                            Second cycle degree programme (LM) in
                            Medical Biotechnology (cod. 9081)

                            Teaching resources on Virtuale
                        
                                    Course Timetable
                                
from Oct 05, 2022 to Nov 15, 2022

Course contents

Introduction of the meaning of noninvasive and invasive prenatal diagnosis

Clinical and algebraic bases on screening test (1^st trimester combined test)

Noninvasive prenatal testing (NIPT)

Massively parallel sequencing : Counting and SNPs methods. Comparisons among NIPT methods and their optimal applications according to type of pregnancy

QF-PCR in amniotic fluid

Fetal alloimmunizzation and noninvasive diagnosis of fetal RhD by Real Time PCR,

Discussion of clinical cases

Readings/Bibliography

Cernat A, De Freitas C, Majid U, Trivedi F, Higgins C, Vanstone M.
Facilitating informed choice about non-invasive prenatal testing (NIPT): a
systematic review and qualitative meta-synthesis of women's experiences. BMC
Pregnancy Childbirth. 2019 Jan 14;19(1):27. doi: 10.1186/s12884-018-2168-4.
PMID: 30642270; PMCID: PMC6332899.

2: Taylor-Phillips S, Freeman K, Geppert J, Agbebiyi A, Uthman OA, Madan J,
Clarke A, Quenby S, Clarke A. Accuracy of non-invasive prenatal testing using
cell-free DNA for detection of Down, Edwards and Patau syndromes: a systematic
review and meta-analysis. BMJ Open. 2016 Jan 18;6(1):e010002. doi:
10.1136/bmjopen-2015-010002. PMID: 26781507; PMCID: PMC4735304.

3: Juvet LK, Ormstad SS, Stoinska‐Schneider A, Solberg B, Arentz‐Hansen H,
Kvamme MK, Fure B. Non-Invasive Prenatal Test (NIPT) for Identification of
Trisomy 21, 18 and 13 [Internet]. Oslo, Norway: Knowledge Centre for the Health
Services at The Norwegian Institute of Public Health (NIPH); 2016 Dec 16. Report
from the Norwegian Institute of Public Health No. 2016-18. PMID: 29553653.

4: Brady P, Brison N, Van Den Bogaert K, de Ravel T, Peeters H, Van Esch H,
Devriendt K, Legius E, Vermeesch JR. Clinical implementation of NIPT - technical
and biological challenges. Clin Genet. 2016 May;89(5):523-30. doi:
10.1111/cge.12598. Epub 2015 May 4. PMID: 25867715.

5: Harraway J. Non-invasive prenatal testing. Aust Fam Physician. 2017
Oct;46(10):735-739. PMID: 29036772.

6: Bowman-Smart H, Savulescu J, Gyngell C, Mand C, Delatycki MB. Sex selection
and non-invasive prenatal testing: A review of current practices, evidence, and
ethical issues. Prenat Diagn. 2020 Mar;40(4):398-407. doi: 10.1002/pd.5555. Epub
2019 Oct 10. PMID: 31499588; PMCID: PMC7187249.

7: Suciu ID, Toader OD, Galeva S, Pop L. Non-Invasive Prenatal Testing beyond
Trisomies. J Med Life. 2019 Jul-Sep;12(3):221-224. doi: 10.25122/jml-2019-0053.
PMID: 31666820; PMCID: PMC6814886

Teaching methods

Frontal lessons with slides assistance

Assessment methods

Frontal lessons with slides assistance

Teaching tools

Office hours

See the website of Antonio Farina