Course BASIC_Graduate level learning material about the challenges of human reproductive medicine in a changing Europe

2021-1-HU01-KA220-HED-000027613 - COHRICE

TEACHERS GUIDE

Challenges of the genetic counselling

(Basic level)

Slide 2.: elaborate why is there a need for genetic counselling in Europe. Include the wish of healthy infants in societies where delivery numbers are declining.

Slide 3.: explain the basic terminology used during genetic counselling.

Slide 4.: explain in detail the numerical chromosomal anomalies (an- and polyploidity) and their pathophysiology.

Slide 5.: elaborate what trisomy 21 is, and what complications can it cause. 

Slide 6.: elaborate what trisomy 18 is, and what complications can it cause. 

Slide 7.: elaborate what trisomy 13 is, and what complications can it cause. 

Slide 8-9.: elaborate what sex chromosome anomalies exist, and what Turner and Klinefelter syndromes are, and what complications can they cause. 

Slide10-12.: explain the most common structural chromosomal abnormalities, what are they by definition, how do they occur, and their phenotype.

Slide 13.: raises several questions about the ethical dilemmas of genetic counselling. From religious concerns, to eugenics, and from decision making to diagnostic risks lots of aspects can be covered.

Slide 14.: explain the medical purpose of prenatal genetic counselling. Why do we do it despite the ethical dilemmas.

Slide 15.: Prenatal counselling is shifting from second trimester to first trimester, as explained by Prof. Nikolaides (fetal Medicine Foundation). Almost all anomalies can be, and should be detected early, when potential medical abortion based on the parents decision can be performed with decreased risk of complications, and with less negative phycological effect.

Slide 16-18.: describe the currently available genetic testing methods, including fluorescent in situ hybridization (FISH), polymerase chain reaction (PCR), and comparative genomic hybridization array (CGH). 

Slide 19.: list the early and the late occurring structural chromosomal anomalies.

Slide 20.: the abortion and stillbirth risk should be discussed.

Slide 21-23.: discuss the currently available screening methods and strategies for trisomy 21 (Down syndrome). Highligth the detection rate and the false positive rate of each method.

Slide 24-30.: explain what kind of invasive screening methods are available, and elaborate what amniocentesis, cordocentesis and chorionic villus sampling are. The currently preferred approach would be transabdominal entry, which decreases infectious risk, unlike transcervical approach. Discuss the indications of these methods, and their timing, for instance amniocentesis is recommended to be carried out on gestational week 16. Also discuss the advantages and the disadvantages of each method.

Slide 31-42.: the following slides will discuss the revolutionary new method of free fetal DNA analysis, which can ne acquired from the maternal blood, and allows high detection rate in a non-invasive screening setting. 

Slide 32.: the comparison of conventional testing and ultrasound screening compared to NIPT according to detection rate, false positive and negative results.

Slide33.: the NIPT screening timeline and protocol should be explained.

Slide 34.: the indication of NIPT should be mentioned.

Slide 35.: as recommended by the National Society of Genetic Counselors NIPT is reliable method, although note, that positive test result requires further investigations.

Slide 36.: NIPT allows the more accurate detection of microdeletion and microduplications.

Slide 37.: the use of the method requires pretest counselling, during which the advantages and the limitations of the method should be discussed with a specialist ant both of the parents.

Slide 38-40.: the ACMG described limitations of NIPT should be elaborated.

Slide 41.: explaine what post testing counselling should discuss in case of NIPT.

Slide 42.: the detection rate and the false positive rate of NIPT of the most common numeric chromosomal anomalies can be discussed.

Views and opinions expressed are however those of the author(s) only and do not necessarily reflect those of the European Union or the Foundation for the Development of the Education System. Neither the European Union nor entity providing the grant can be held responsible for them.