R. Quartero

Detection of Chromosome Aneuploidies in Chorionic Villus Samples by Multiplex Ligation-Dependent Probe Amplification

The objective of this study was to examine the suitability of multiplex ligation-dependent probe amplification (MLPA) in chorionic villus samples as a replacement for traditional karyotyping for the detection of (an)euploidies of chromosomes 21, 18, 13, X, and Y. Chorionic villus samples were diagnosed by traditional karyotyping using short-term cultures (STC) and long-term cultures (LTC), and by MLPA using kit P095. DNA was extracted after digestion of whole villi with proteinase K and/or trypsin and collagenase. Different cell-dissociation procedures were tested to obtain MLPA results representative of the cytotrophoblast layer and the mesenchymal core. Over 95% of the MLPA results were in concordance with the traditional karyotyping of STC and LTC. Traditional karyotyping revealed seven mosaics. After digestion of whole villi with proteinase K, only abnormal cell lines confined to the STC gave rise to abnormal MLPA results. In one sample, the complete discrepancy between STC and LTC was resolved after enzymatic dissociation of cells from the cytotrophoblast layer and the mesenchymal core. MLPA in chorionic villus samples was found to be a reliable test for the detection of (an)euploidies of chromosomes 21, 18, 13, X, and Y. Whole villi digestion with proteinase K resulted in the over-representation of cytotrophoblasts in the DNA pool. To obtain MLPA results representative for STC and LTC, enzymatic dissociation of cells from the cytotrophoblast layer and mesenchymal core is required.

Why Do Parents Prefer to Know the Fetal Sex as Part of Invasive Prenatal Testing

Objectives. The aim of this study was to determine whether prospective parents, primarily referred for prenatal diagnosis to exclude Down syndrome, prefer to know the fetal sex as part of invasive testing. Methods. In this prospective study 400 pregnant women undergoing amniocentesis were invited to answer a questionnaire, including information about demographic factors, current pregnancy, and previous children. In two open-ended questions they were asked why they wanted to know the fetal sex after amniocentesis or ultrasound investigation. Scores were given for reasons that could have played a role in the wish whether or not to know the sex of their unborn child. Results. A total of 210 (52.5%) questionnaires were completed. Overall, 69.0% was interested to know the fetal sex as part of the diagnostic test result. The most important reasons were curiosity (77.8%), “just want to know” (68.0%), and “because it is possible” (66.8%). The overall knowledge of sex chromosomal disorders appeared low and did not seem to affect the parents wish to know the fetal sex. Almost all women (96.6%) planned to have a 20-week ultrasound scan and 96.2% thought the scan to be reliable in detecting the fetal sex. A minority (28%) was willing to learn the fetal sex by ultrasound examination, whereas 65% preferred to learn the fetal sex only after the amniocentesis. Conclusion. Personal values affect the parental desire to know or not to know the fetal sex. This does not appear to be affected by invasive prenatal testing and/or genetic knowledge of sex chromosomal disorders.

Women's Attitudes towards the Option to Choose between Karyotyping and Rapid Targeted Testing during Pregnancy

Objectives. Pregnant women, referred because of an increased risk of fetal Down syndrome, who underwent an invasive prenatal procedure were offered a choice between karyotyping and rapid targeted testing. This study aims to assess womens attitudes and experiences towards what option to choose. Methods. A retrospective multicentre survey (2008–2010) was conducted among 1370 women. General questions were asked about decision making issues, followed by personal questions about their experiences in choice making, test preference, influence of others, and possible regrets. Results. In total, 90.1% of the respondents (N = 825) indicated that pregnant women are able to choose, although 33.1% stated that the choice can best be made by a professional. 18.4% indicated that making a choice places a burden on women. In 96.4%, respondents preferred to have the option to choose again in case of a next pregnancy, whereas 2.7% preferred the choice to be made by a professional. Regret was indicated by 1.2%. Decision making was influenced by others in 64.9%. A slightly higher preference for karyotyping was indicated by 52.7% of the respondents. Conclusions. Positive attitudes and experiences were expressed towards the option to choose. Respondents took decisions freely, although sometimes influenced by a partner or a professional, to follow their individual perspectives.

Correlation of Reductions in Perfused Fibroid Volume With Subsequent Reductions in Total Fibroid Volume After Transcervical Radiofrequency Ablation

Study Objective To determine if the extent of fibroid ablation, as reflected in a decrease in perfused fibroid volume three months after treatment, correlates with a reduction in total fibroid volume at 12 months. Design Prospective, longitudinal, multicenter, single-arm trial. Setting Academic and community hospitals in the United Kingdom, The Netherlands and Mexico. Patients 27 women with heavy menstrual bleeding secondary to fibroids. Intervention Radiofrequency ablation guided by built-in intrauterine sonography (the Sonata™ System). Measurements and Main Results The 27 patients had a total of 42 fibroids that were ablated. Contrast-enhanced MRI was used to determine the perfused and total fibroid volumes at baseline, at 3 months post-treatment and again at 12 months post-treatment. All MRI measurements were performed at a single core laboratory (MedQIA, Los Angeles, USA). Using a least squares method for linear regression, the change in total fibroid volume at 12 months as a function of the change in perfused fibroid volume at 3 months was found to have a correlation coefficient (R2) of 0.7518. The linear equation describing this relationship was y = 0.9919x + 0.0052. Conclusion There is a positive correlation between the reduction in perfused fibroid volume noted on contrast-enhanced MRI at 3 months after transcervical radiofrequency ablation and the reduction in total fibroid volume at 12 months. Thus, as larger portions of a fibroid are ablated, there will tend to be a greater reduction in total fibroid volume at 1 year.