Education, information and guidance in genetic counseling of prenatal diagnostic tests for chromosomal abnormalities

The study is conceived and designed with its goals to find out what elements matter most when people have to make decision about (i) whether to choose conventional karyotyping (CK) or array Comparative Genomic Hybridization (aCGH) as the laboratory test for diagnosis of chromosomal aneuploidy when the clinical situation calls for one, and (ii) whether to continue or discontinue an affected pregnancy when a positive diagnosis of chromosomal aneuploidy is confirmed. On the side, an additional aim is set to examine whether, through random separation of respondents into Guided and Non-guided subgroups, data collected from the two different subgroups could reveal if a step by step guidance and explanation given to the Guided one would produce observable significant difference in comparison to those in the Non-guided subgroup. \nData were collected and analyzed from three target groups of subject – medical students (n=50), midwifery students (n=63) and nursing students (n=20) through their answers to questionnaire survey after a brief introduction of the study presented to them. These students were targeted and included in the study because they would all serve as healthcare professionals upon successful completion of their training and were expected to have ample opportunity in their line of duty to deal with patients who would possibly be confronted by such clinical challenge whence similar decisions must be made, in addition to the fact that many of these students would also take up the role of expectant parents someday they decide to have their own families. Students were subdivided into guided and non-guided subgroups randomly on spot. Guided group subjects received step by step guidance or interpretation when they filled in the questionnaire, while their non-guided counterparts were left to finish their questionnaire in a separate room and received no further guidance other than the information sheet of the survey and a hard copy of the slides used in the introduction to consult to if they had questions. \nParameters like respondents’ gender, age, family income level, religious background, peer group influence, past personal hospitalization history as well as experience of providing services to either healthy or sick children/adults were also examined to see if these factors would produce any significant difference in the results. \nData collected in this study indicated the preference of diagnostic test for Down syndrome (DS) by these unburdened students to be the more costly, but faster and higher in resolution – array comparative genomic hybridization (aCGH). Array CGH was embraced with 80.0%, 53.9%, and 78.0% by nursing, midwifery and medical students respectively. With an overall rate at 66.9%, popularity of aCGH exceeded the overall preference rate (32.3%) of conventional karyotyping (CK) by more than double. When all three groups of students were asked about their attitude towards the management choice of an affected pregnancy, data of this study indicated their overall rates of choosing continuation of affected pregnancy and choosing termination of it to be 15.0% and 75.9% respectively, regardless of the religious background and gender of respondents, with a remainder of some 9.0% being neutral to the two extremes. This figure is slightly higher than a similar study carried out in Quebec asking local healthcare professionals their attitude towards management of affected DS pregnancy. \nSignificance was observed when perceived level of understanding of CK was compared against students of different baseline education levels (BEL). No significance was observed between the guided and non-guided subgroups in areas related to preference of diagnostic test or their attitude towards management of an affected pregnancy, but significance difference was observed in their conceived level of difficulty of understanding and answering the questionnaire. Guided subjects obviously came up with answers skewed to the “easy” side, while non-guided subjects did exactly the opposite; they provided answers skewed to the “difficult” end. Is that exactly part of what this study is set out to find in the first place? A more in depth, or more informative, explanation and guidance could possibly give patients and their family stronger and more reliable handles when they have important decision to make! \nThese findings could in one hand fill in the blank of what seems to be lacking of locally, and could in another angle, provide ground for data comparison with those reported in overseas studies.

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