Objective
To provide an estimation of the probability of error when chorionic villi (CV) cytogenetic analysis is limited to a single placental layer; either a direct preparation (Dir) or long‐term culture (LTC).
Methods
We retrospectively reviewed cytogenetic studies on 81,593 consecutive CV samples in which both Dir and LTC were analyzed. All mosaic cases received amniocentesis. The false omission and false discovery rates were calculated by assessing the results that would have been reported when analysis was limited to either Dir or LTC.
Results
For all abnormalities combined, the proportion of normal Dir or LTC only reports that would have been inconsistent with a subsequent amniocentesis was 0.09% and 0.03%, respectively (false omissions). Among abnormal reports based on Dir or LTC alone, 8.01% and 3.17%, respectively, would be inconsistent with a subsequent amniocentesis result (false discoveries). Differences are present for individual abnormalities.
Conclusions
From the perspective of identifying all abnormalities of potential clinical significance, the analysis of both placental layers is optimal. LTC alone is the preferred approach if only one layer of placenta is to be analyzed. Although rare, it is important to acknowledge that one cell layer analysis alone can cause misdiagnosis due to undetected mosaicism.
Objectives: Patients' attitudes and expectations of prenatal screening for genetic abnormalities throughout pregnancy are rarely analyzed by researchers as emotions and fears are both important and challenging factors. Prenatal counselling has never been so difficult as we live in the era of detailed ultrasound scans, cell-free fetal DNA and detailed microarray testing.The aim of this study was to investigate Polish women's attitudes towards screening for chromosomal abnormalities and fetal defects.
Material and methods:The study was a prospective survey conducted among a population of Polish women. An electronic questionnaire regarding prenatal diagnostics was distributed to a total number of 1072 female volunteers.Results: 1044 patients (97.30%) stated that they were motivated to undergo prenatal diagnostics and would want to be informed about fetal abnormalities. Over 90% of the respondents would want to be informed about serious defects with a high mortality rate (including trisomy 13 or 18). More than half the Polish women (54.83%) stated they were willing to consider terminating pregnancy in the case of a severe abnormality.Conclusions: Polish women expect prenatal screening. Almost all Polish women would want to be informed about both genetic and anatomical abnormalities and over half of them would consider terminating pregnancy in the case of a severe abnormality. Willingness to learn about a defect increased with average household income, and the statement of a will to terminate pregnancy depended mostly on maternal age and type of fetal abnormality.
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