Biomedical subjects

Nico Leschot

Publications and source records attributed to Nico Leschot.

3 recordsLinked to original sources

PubMed2006

Communication with patients during the prenatal testing procedure: an explorative qualitative study.

OBJECTIVE: While generally two phases of prenatal genetic counseling are distinguished, i.e. pre- and post-test counseling, we revealed a third form of communication during the testing procedure. The content of this intermediate communication was explored. METHODS: A secondary analysis was performed on data obtained in another observational study, which was focussed on how indefinite testing results are clarified. Thirteen testing trajectories in which communication with parents took place during the testing procedure were further analysed. RESULTS: In the majority of cases the content of intermediate communication was similar to the content of pre-test counseling. In four cases the content was different, because the communication involved the parents in decision-making about a testing result, which was still being processed. CONCLUSION: Communication in (prenatal) genetic testing is not always restricted to separate phases, but can be an ongoing process occurring parallel to, and sometimes even intertwined with, the testing process. The advocated model of shared decision-making might work better once it is determined if the decision concerns the area wherein the provider is the expert, or the patient. PRACTICE IMPLICATIONS: Further research into the process of continuing decision-making could clarify how providers' and patients' responsibilities regarding the diagnostic process are distributed. Meanwhile, the possible occurrence of continuous decision-making should be mentioned in (prenatal) genetic counseling.

Adaptation, Psychological↗

PubMed2005

Detection of chromosome abnormalities by quantitative fluorescent PCR in ectopic pregnancies.

OBJECTIVE: To evaluate the potential value of quantitative fluorescent polymerase chain reaction (QF-PCR) in the detection of chromosome abnormalities in ectopic pregnancies. METHODS: Seventy chorionic villi samples of ectopic pregnancies were studied by QF-PCR. Primers for chromosomes 16, 21, X and Y in chorionic villi were evaluated. Fluorescence in situ hybridization (FISH) was performed when results of QF-PCR showed aneuploidy, in case of unexplicable QF-PCR peaks, and in 10 cases with normal QF-PCR results. RESULTS: QF-PCR produced a result for chromosomes X and Y in 66 cases (94%), for chromosome 16 in 62 cases (89%) and for chromosome 21 in 55 cases (79%). Overall, QF-PCR produced a result for the chromosomes tested in 54 ectopic pregnancy cases (77%). Fifty-two of these results were normal disomic (96%) and two were abnormal, one trisomy 16 (2%) and one triploidy (2%). In 16 cases (23%) no definite QF-PCR results could be obtained for all chromosomes, 11 due to amplification failure, and 5 due to unexplicable QF-PCR peaks. In 10 cases with normal QF-PCR results, disomy was confirmed by FISH. The trisomy 16 was also confirmed by FISH. Furthermore, a result was obtained with FISH in 5 of the cases without definite QF-PCR results. CONCLUSION: Although QF-PCR can establish the chromosomal status in ectopic pregnancies for chromosomes 16, 21, X and Y in the majority of cases, the technical failure rate is still considerable and does not improve results when compared to cytogenetic techniques.

Adult↗

PubMed2005

How unexpected are unexpected findings in prenatal cytogenetic diagnosis? A literature review.

The objective of this review was to gain understanding about unexpected findings in prenatal cytogenetic diagnosis. This category of results might be excluded from prenatal testing when new molecular tests such as I-FISH and QF-PCR will be applied in a future scenario of targeted testing. The literature was systematically searched for publications wherein the term unexpected or a synonym refers to testing results with specific problems. On the selected articles a qualitative analysis was performed, using the methods of cross-case analysis and within-case analysis. Sixteen articles published between 1979 and 2003 were selected. Analysis led to the classification of four problems of unexpected findings: I. unexpected for professionals; II. unexpected for patients; III. uncertainty; IV. other difficult counselling issues. We conclude that currently the problems of unexpected findings relate only slightly to their unexpected character. Instead, the main problems of unexpected findings relate to uncertainty and other aspects which create difficult counselling issues. As such, unexpected findings can be distinguished only gradually from standard results. Before targeted testing can be applied it is necessary to establish exact criteria in order to discern unexpected findings from standard testing results.

Amniocentesis↗