Course Advanced learning material about the challenges of human reproductive medicine in a changing Europe for OB/GYN residents

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

TEACHERS GUIDE

Challenges of the genetic counseling 

(Advanced level)

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

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

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

Slide 5.: explain what autosomal trisomy are, elaborate what trisomy 13,18, and 21 are, and what complications can they cause.

Slide 6.: elaborate what sex chromosome anomalies exist, and what Turner and Klinefelter syndromes are, and what complications can they cause.

Slide 7-9.: explain the most common structural chromosomal abnormalities, what they are, how they occur, and their phenotype.

Slide 10.: explain the medical purpose of prenatal genetic counseling. Why do we do it despite the ethical dilemmas.

Slide 11-12.: explain what genetic counseling consists of and what happens during consultations.

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.: discuss which women should undergo genetic counselling, which pregnant women should be referred to a specialist.

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 parent’s 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.: explain in which cases, and when should be invasive prenatal diagnostic carried out.

Slide 22-28.: 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 29-30.: discuss the currently available screening methods and strategies for trisomy 21 (Down syndrome). Highlight the detection rate and the false positive rate of each method.

Slide 31.: demonstrate the detection and the false positive rate of combine testing of trisomy 21 related to maternal age.

Slide 32-36.: the key elements of first and second trimester ultrasound scans. For details, please check topic 12.

Slide 37-51.: the following slides will discuss the revolutionary new method of free fetal DNA analysis, which can be acquired from the maternal blood, and allows high detection rate in a non-invasive screening setting.

Slide 38.: the comparison of conventional testing and ultrasound screening compared to NIPT according to detection rate, false positive and negative results.

Slide 39-40.: the NIPT screening timeline and protocol should be explained. Also explain when it should be used as secondary testing during the counseling.

Slide 41.: the indication of NIPT should be mentioned.

Slide 42.: as recommended by the National Society of Genetic Counselors NIPT is reliable method, although note, that positive test result requires further investigations.

Slide 43.: NIPT allows the more accurate detection of microdeletion and microduplications.

Slide 44.: 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 45-47.: the ACMG described the limitations of NIPT, which should be elaborated.

Slide 48.: explain what post testing counselling should discuss in case of NIPT.

Slide 49.: the detection rate and the false positive rate of NIPT of the most common numeric chromosomal anomalies can be discussed.

Slide 50.: describe which factors influence the free fatel DNA levels, and therefore the rate of success and accuracy of the test.

Slide 51.: discuss in which scenarios might result discordant results during the NIPT test and why.

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.