genetic Counselling

Scientific reports suggest that women at risk for familial breast cancer may benefit from prophylactic mastectomy. However, few data are available about how women decide upon this clinical option, and in particular, what role an objective risk assessment plays in this. The purpose of the present study is to assess whether this objective risk information provided in genetic counselling affects the intention for prophylactic mastectomy. Additionally, the (mediating) effects of breast cancer worry and perceived risk are investigated. A total of 241 women completed a questionnaire before and after receiving information about their familial lifetime breast cancer risk in a genetic counselling session. Path analysis showed that the objective risk information had a corrective effect on perceived risk (beta=0.38; P=0.0001), whereas the amount of breast cancer worry was not influenced by the counselling session. The objective risk information did not directly affect the intention for prophyl...

Uvod: Prenatalna genetička dijagnostika obuhvaća dijagnostičke postupke kojima ispitujemo bolesti ili patološka stanja kod ploda. Možemo ju podijeliti na dvije vrste metoda: invazivnu i neinvazivnu. S obzirom na to da invazivne metode u značajnoj mjeri mogu naštetiti i majci i plodu, posljednjih desetljeća ubrzano se razvijaju neinvazivne metode. One su sigurnije, no unatoč tome, i jedne i druge predstavljaju značajne etičke izazove. Medicinske sestre u mnogočemu mogu pridonijeti razvoju prenatalne dijagnostike putem pružanja informacija roditeljima, upoznavanja roditelja s dijagnostičkom procedurom, suosjećanja s njima, pružanjem podrške u rješavanju etičkih dilema s kojima se roditelji susreću.
Cilj rada bio je ispitati i utvrditi opću informiranost medicinskih sestara o metodama prenatalne genetičke dijagnostike te ispitati stavove medicinskih sestara o njihovoj ulozi u procesu prenatalne dijagnostike.
Metode: Uzorak ispitanika činile su medicinske sestre koje rade u Kliničkom bolničkom centru Sestre milosrdnice i Općoj županijskoj bolnici Našice na Odjelu ginekologije i porodništva. U istraživanju je sudjelovalo 115 ispitanika. Korišten je upitnik koji se sastoji od 29 pitanja.
Rezultati: Ispitanici su pokazali osrednje znanje o prenatalnoj dijagnostici. Smatraju da bi trudnice trebale obavljati neinvazivne testove, da su prenatalne metode pouzdane te da medicinske sestre mogu pomoći u prihvaćanju informacije o anomalijama djeteta. S druge strane, ispitanici se ne slažu s tvrdnjom da bi medicinske sestre trebale davati savjete trudnicama te da su invazivne metode opasne.
Rasprava: Istraživanje ukazuje na potrebu dodatne edukacije medicinskih sestara kako bi mogle djelovati na području prenatalne dijagnostike i biti uključene u genetička savjetovališta.
Zaključak: Razvojem prenatalne genetičke dijagnostike dolazi do pojave novih etičkih dvojbi koje postaju sve veći izazov medicinskim sestrama. Stoga je iznimno važno poticati obrazovanje sestara na području prenatalne genetičke dijagnostike. Uloga medicinskih sestara ne bi se smjela zadržati samo na asistirajućoj ulozi.

Introduction: Prenatal genetic diagnostics includes diagnostic procedures for examining diseases or pathological conditions of the fetus. We can divide it into two types of methods, invasive and non-invasive ones. Since invasive methods can significantly harm both mother and fetus, non-invasive methods have been developing rapidly in recent decades. As such, they are much safer, but nevertheless, they both carry considerable ethical issues. It is not enough just to make a test, but it is necessary to pay attention to all the ethical implications that it carries. In that sense, nurses can make a significant contribution. Nurses can contribute in many ways to the development of prenatal diagnostics. It can be by providing information to parents themselves, helping them understand diagnostic procedures, empathizing with them and providing support in resolving ethical dilemmas that they face.
Methods: The sample of respondents consists of nurses who work in University Hospital Center Sestre milosrdnice and General county hospital Našice at Gynecology and Obstetrics maternity hospitals. 115 respondents participated in the study. The research study uses a questionnaire with 29 questions.
Results: Subjects have mediocre knowledge of the prenatal diagnosis. They believe that pregnant women should perform non-invasive tests, that prenatal methods are reliable, and that nurses can help accept information about the child’s anomalies. On the other hand, respondents disagree that nurses should give advice to pregnant women and that invasive methods are dangerous.
Discussion: The research shows that there is a need for additional education of nurses so that they can work in the field of prenatal diagnostics and be involved in genetic counseling. Besides, they should be morally aware to be able to provide valid, but also morally correct information.
Conclusion: With the development of prenatal genetic diagnostics, new ethical issues emerge and challenge more and more nurses at these wards. It is of utmost importance to encourage the education of nurses at the academic level. The role of nurses cannot and should not remain solely in the assisting role.

Cytogenetic prenatal diagnosis (PND) is under national health program in most developed countries, while it concerns a small part of population at risk in developing countries. Finance is common reason of absence of PND development, but socio-cultural believes play an important role in Arab Muslim countries. In this paper we report results of 3110 fetal karyotypes carried out in a Tunisian population, by cultured amniocytes analysis. It is the largest report in a Muslim Arab country in our Knowledge. Abnormal karyotypes rate was 4.18% classified in two groups: bad prognosis (3.05%) and good prognosis (1.13%). Common amniocentesis indication was maternal age. The highest predictive value was observed in balanced karyotype and fetal ultrasound findings indications. Maternal serum markers were not commonly used for trisomy 21 screening. Pregnancy termination that is permitted by legal and religious authorities was accepted by 94,74% parents. Information about PND outcomes was given by genetic counselling prior to fetal sampling, pregnancy interruption was discussed with parents at cytogenetic result announcement. The authors conclude that in order to prevent mental and physical handicap related to cytogenetic disorders we have to promote PND by education for population, genetic counselling and fetal ultrasound screening; all three methods available in Tunisia.