The data in Table 2 has been aligned with the variables. "And a logistic regression analysis" has... more The data in Table 2 has been aligned with the variables. "And a logistic regression analysis" has been removed from the text about ruling out the confounders. The format of the subheading "Opinions" has been changed in line with the other subheadings.
Objective: To investigate factors involved in the decision to decline prenatal screening with non... more Objective: To investigate factors involved in the decision to decline prenatal screening with noninvasive prenatal testing (NIPT). Method: A questionnaire study was conducted among 219 pregnant women in the Netherlands who had declined prenatal screening with NIPT (TRIDENT-2 study). Respondents were selectively recruited from three hospitals and 19 midwifery practices, primarily located in or near socioeconomically disadvantaged neighborhoods. 44.3% of the respondents were of non-Western ethnic origin and 64.4% were religious. Results: Most respondents (77.2%) found the decision to decline NIPT easy to make, and 59.8% had already made the decision before information about NIPT was offered. These respondents were more often religious, multigravida, and had adequate health literacy. The main reasons to decline NIPT were "I would never terminate my Lisanne van Prooyen Schuurman and Karuna van der Meij contributed equally to this work. A complete list of all members of the Dutch NIPT Consortium is provided in Appendix 1. This is an open access article under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non-commercial and no modifications or adaptations are made.
In the TRIDENT-2 study, all pregnant women in the Netherlands are offered genome-wide non-invasiv... more In the TRIDENT-2 study, all pregnant women in the Netherlands are offered genome-wide non-invasive prenatal testing (GW-NIPT) with a choice of receiving either full screening or screening solely for common trisomies. Previous data showed that GW-NIPT can reliably detect common trisomies in the general obstetric population and that this test can also detect other chromosomal abnormalities (additional findings). However, evidence regarding the clinical impact of screening for additional findings is lacking. Therefore, we present follow-up results of the TRIDENT-2 study to determine this clinical impact based on the laboratory and perinatal outcomes of cases with additional findings. Between April 2017 and April 2019, additional findings were detected in 402/110,739 pregnancies (0.36%). For 358 cases, the origin was proven to be either fetal (n ¼ 79; 22.1%), (assumed) confined placental mosaicism (CPM) (n ¼ 189; 52.8%), or maternal (n ¼ 90; 25.1%). For the remaining 44 (10.9%), the origin of the aberration could not be determined. Most fetal chromosomal aberrations were pathogenic and associated with severe clinical phenotypes (61/79; 77.2%). For CPM cases, occurrence of pre-eclampsia (8.5% [16/189] vs 0.5% [754/159,924]; RR 18.5), and birth weight <2.3rd percentile (13.6% [24/177] vs 2.5% [3,892/155,491]; RR 5.5) were significantly increased compared to the general obstetric population. Of the 90 maternal findings, 12 (13.3%) were malignancies and 32 (35.6%) (mosaic) pathogenic copy number variants, mostly associated with mild or no clinical phenotypes. Data from this large cohort study provide crucial information for deciding if and how to implement GW-NIPT in screening programs. Additionally, these data can inform the challenging interpretation, counseling, and follow-up of additional findings.
Public engagement for Human Germline Genome Editing (HGGE) has often been called for, for example... more Public engagement for Human Germline Genome Editing (HGGE) has often been called for, for example by the WHO. However, the impact of public engagement remains largely unknown. This study reports on public engagement outcomes in the context of a public dialogue project about HGGE in the Netherlands; the DNA-dialogue. The aim was to inquire opinions and opinion change regarding HGGE. A questionnaire was distributed on a national level (n = 2381) and a dialogue level (n = 414). The results indicate that the majority of the Dutch population agrees with the use of HGGE to prevent severe genetic diseases (68.6%), unlike the use to protect against infectious diseases (39.7%), or for enhancement (8.5%). No indications of change in these acceptance rates as a result of dialogue participation were found. The results did provide a tentative indication that participation in dialogue may lead to less negative opinions about HGGE (χ 2 (1) = 5.14, p = 0.023, OR = 0.56, 95% CI [0.34, 0.93]). While it was not a goal of the project to make people more accepting towards HGGE, this might be the effect of exposure to opinions that are less often heard in the global debate. We conclude that dialogue may lead to different outcomes for different people, depending on their characteristics and their entrance attitude, but does not appear to systematically direct people towards a certain opinion. The self-reported, impacts of dialogue participation included no impact, strengthening of opinion, enabling of forming a first opinion, more insight into the potential implications of HGGE, and a better understanding of other people's perspectives.
Developments in prenatal testing allow the detection of more findings. SNP arrays in prenatal dia... more Developments in prenatal testing allow the detection of more findings. SNP arrays in prenatal diagnosis (PND) can be analyzed at 0.5 Mb resolution detecting more clinically relevant anomalies, or at 5 Mb resolution. We investigated whether women had sufficient knowledge to make informed choices regarding the scope of their prenatal test that were consistent with their attitude. Pregnant women could choose between testing at 5 or at 0.5 Mb array. Consenting women (N = 69) received pre-test genetic counseling by phone and filled out the Measure of Informed Choice questionnaire designed for this study. Choices based on sufficient knowledge and consistent with attitude were considered informed. Sixtytwo percent of the women made an adequately informed choice, based on sufficient knowledge and attitudeconsistent with their choice of microarray resolution. Women who made an informed choice, opted for 0.5 Mb array resolution more often. There were no differences between women making adequately informed or less informed choices regarding level of experienced anxiety or doubts. Over time on T0 and T1, anxiety and doubts significantly decreased. While previous studies demonstrated that knowledge is an important component in informed decision-making, this study underlines that a consistent attitude might be equally important for decision-making. We advocate more focus on attitudeconsistency and deliberation as compared to only a strong focus on knowledge.
On 3rd June 2016 Embase and PubMed databases were systematically searched for all relevant articl... more On 3rd June 2016 Embase and PubMed databases were systematically searched for all relevant articles on prevalence of pathogenic submicroscopic CNVs in fetuses tested due to advanced maternal age or parental anxiety. Relevant full text articles were analysed and based on the extracted data the prevalence of submicroscopic CNVs was calculated. Results: Meta-analysis was conducted in a pooled cohort of 10,614 fetuses based on the 10 largest studies (N > 300) of a total of 19 relevant studies. In 0.84%, 95%CI [0.55%, 1.30%] of fetuses a submicroscopic pathogenic aberration was detected prenatally. The onset/penetrance of the submicroscopic findings was studied in 10,314 fetuses out of 8 papers that presented aberrant cases with all necessary details. The prevalence of early onset syndromic disorders due to a submicroscopic aberration was calculated to be 1:270, based on 0.37%, 95%CI [0.27%, 0.52%] cases where aberrations were specified. Conclusions: This systematic review shows that a significant proportion of fetuses in a general pregnant population carry a submicroscopic pathogenic CNV. Based on these figures all women should be informed on their individual risk for all pathogenic chromosome aberrations and not only for common trisomies. P16.05 The influence of chromosomal microarray and NIPT on the diagnostic yield in 6,811 high-risk pregnancies without ultrasound anomalies
Prenatal diagnostics has been impacted by technological changes in the past decade, which have af... more Prenatal diagnostics has been impacted by technological changes in the past decade, which have affected the diagnostic yield. The aim of this study was to evaluate the impact of SNP array and noninvasive prenatal testing (NIPT) on the diagnostic yield and the number of invasive tests in our center. The frequency of pathogenic fetal unbalanced chromosome aberrations was studied in 10,005 cases referred for prenatal testing in 2009-2015. Chromosomal SNP microarray analysis replaced karyotyping in all invasively tested pregnancies and since 2014 a choice between NIPT and diagnostic testing with microarray was offered to women with an increased risk for common aneuploidy. The introduction of microarray led to an additional yield of submicroscopic pathogenic chromosome aberrations: 3.6% in fetuses with ultrasound anomalies and 1.9% in fetuses without ultrasound anomalies. The introduction of NIPT led to a decrease of invasive tests and of diagnostic yield. Moreover, a diagnostic delay in...
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology, Jan 27, 2017
To establish the frequency of pathogenic submicroscopic chromosome aberrations in fetuses that ar... more To establish the frequency of pathogenic submicroscopic chromosome aberrations in fetuses that are not at increased risk for unbalanced structural chromosome aberrations, a systematic literature search was performed. The aim was to determine whether high resolution testing for submicroscopic aberrations is beneficial in a general pregnant population. On 3rd June 2016 Embase and PubMed databases were systematically searched for all relevant articles on prevalence of pathogenic submicroscopic CNVs in fetuses tested due to advanced maternal age or parental anxiety. Relevant full text articles were analyzed and based on the extracted data the prevalence of submicroscopic CNVs was calculated. Meta-analysis was conducted in a pooled cohort of 10,614 fetuses based on the 10 largest studies (N > 300) of a total of 19 relevant studies. In 0.84%, 95%CI [0.55%, 1.30%] of fetuses a submicroscopic pathogenic aberration was detected prenatally. The onset/penetrance of the submicroscopic findin...
Background Binge eating disorder (BED), as the most prevalent eating disorder, is strongly relate... more Background Binge eating disorder (BED), as the most prevalent eating disorder, is strongly related to obesity and other somatic and psychiatric morbidity. Despite evidence-based treatments a considerable number of BED patients fail to recover. There is preliminary evidence for the association between psychodynamic personality functioning and personality traits on treatment outcome. However, research is limited and results are still contradictory. Identifying variables associated with treatment outcome could improve treatment programs. The aim of the study was to explore whether personality functioning or personality traits are associated with Cognitive Behavioral Therapy (CBT) outcome in obese female patients with BED or subthreshold BED. Methods Eating disorder symptoms and clinical variables were assessed in 168 obese female patients with DSM-5 BED or subthreshold BED, referred to a 6-month outpatient CBT program in a pre-post measurement design. Personality functioning was assess...
The cross-cultural validity of the Outcome Questionnaire (OQ) in the Dutch population has been ex... more The cross-cultural validity of the Outcome Questionnaire (OQ) in the Dutch population has been examined by comparing the psychometric properties and equivalence in factor structure and normative scores of the Dutch OQ with the original American version. Data were collected from a university (n = 268), in a community (n = 810) and from three mental health care organizations (n = 1920). Results show that the psychometric properties of the Dutch OQ were adequate and similar to the original instrument. Some differences in equivalence were found though. In factor analysis, two additional factors were found: one consisting of social role items and another that reflected anxiety and somatic symptoms. Furthermore, normative scores were different for the Dutch and American samples, and this resulted in different cutoff scores for estimating a clinically significant change in the Dutch population.
Poster discussion hub abstracts 33 (8.2%). Among fetuses with structural ultrasound abnormalities... more Poster discussion hub abstracts 33 (8.2%). Among fetuses with structural ultrasound abnormalities and normal karyotype(n=369) that underwent CMA, the detection rate of copy number variants (CNV) was 22.2% (82/369), including pathogenic CNV in 11.4% (42/369) and variants of uncertain clinical significance (VOUS) in 10.8% (40/369). In the groups of cardiac, central nervous, musculoskeletal, facial and urogenital malformations, the rate of the pathogenic CNV were 16.6% (38/229), 21.9% (14/64), 15.5% (15/97), 13.5% (7/52) and 18.8% (6/32) respectively. Ultrasound anomaly restricted to one anatomical system (n=238) had a 10.5% (n=25) chance of carrying a pathogenic CNV, while this chance increased to 13.0% (n=17) for multiple ultrasound anomalies (n=131). Conclusions: In the assessment of genetic abnormalities in pregnancies with fetal anomalies, the diagnostic yield may be increased by 22% if CMA is used as a complementary tool to conventional cytogenetics. Our results suggest that CMA is valuable in prenatal genetic diagnosis of fetuses with fetal anomalies.
Problems in scale construction arise in a variety of social research areas. For a long time, the ... more Problems in scale construction arise in a variety of social research areas. For a long time, the measurement of democracy, and the development of a democracy scale positioning independent states relative to each other, has been a major concern in political science. Although there are a number of democracy indices known from literature, the most widely used measure has been
In psychometrics two types of item response data can be distinguished, bipolar and unipolar (sing... more In psychometrics two types of item response data can be distinguished, bipolar and unipolar (single-peaked) data. In this paper we focus on single-peaked data. Two types of methods commonly used to handle single-peaked item response data are the IRT-like probabilistic unfolding models (U-IRT) such as the Generalized Graded Unfolding Model for single-peaked data (GGUM) (see for example Roberts and Laughlin, 1996)), and the multidimensional unfolding models (MDU) developed within the multidimensional scaling framework (see for example Heiser, 1981; Busing, Groenen and Heiser, 2002). One major drawback of the probabilistic models is that only unidimensional scales can be represented. Often items do not fit within this scale and are therefore ignored for further analysis. Furthermore, these methods rely on the probabilistic framework and thus some assumed distribution which may or may not hold. A major drawback of the MDU models is that the minimization procedure can be hampered by loca...
Scandinavian Journal of Child and Adolescent Psychiatry and Psychology, 2017
Background: The Dimensional Assessment of Personality Pathology – Short Form for Adolescents (DAP... more Background: The Dimensional Assessment of Personality Pathology – Short Form for Adolescents (DAPP-SF-A) is an ageadapted version of the DAPP Basic Questionnaire (DAPP-BQ). The psychometric properties of this questionnaire were established by Tromp and Koot. However, norming data are currently available exclusively for Dutch adolescents. Objective: The main aim of this study was to provide community-based norming data for the DAPP-SF-A in Flemish adolescents and separately for boys and girls. The second aim was to compare the Flemish norms with the Dutch norms. Method: The sample consisted of 425 adolescents (52% girls), aged 16 to 21 years (mean, 18.6; SD, 1.16), from the general Flemish population. In 2012, all respondents completed the DAPP-SF-A and the Youth Self-Report as a part of the longitudinal Flemish Study on Parenting, Personality, and Development. Results: Internal consistency reliabilities of the lower-order dimensions were acceptable to good (α ranged from 0.71 to 0.8...
Objective: There is preliminary evidence for an association between personality traits and binge ... more Objective: There is preliminary evidence for an association between personality traits and binge eating disorder (BED) in obese patients. In addition, recent studies have shown impaired psychodynamic personality functioning in BED. However, these results are partly inconsistent. The goal of this study was to explore and evaluate personality traits and personality functioning in obese patients with BED or subthreshold BED. Moreover, we aimed to explore the additional value of combined assessment of personality traits and personality functioning. Methods: Treatment-seeking obese female patients with BED (n=129) or subthreshold BED (n=91) were compared with obese (n=107) and nonobese (n=90) female community controls in terms of personality traits (using the Temperament and Character Inventory) and personality functioning (using the Developmental Profile Inventory) in univariate and multivariate analyses. Results: Harm Avoidance was higher and Self-Directedness was lower in obese patients with BED or subthreshold BED compared with obese and nonobese community controls. In addition, obese patients with BED or subthreshold BED presented more maladaptive and less adaptive personality functioning than controls. Although univariate analyses did not find significant differences in personality traits or personality functioning between obese patients with BED and those with subthreshold BED, when both personality traits and personality functioning were combined in multivariate analysis (data from both the Temperament and Character Inventory and Developmental Profile Inventory), obese patients with BED showed greater vulnerabilities in personality traits and functioning than obese patients with subthreshold BED. Conclusions: Obese patients with BED or subthreshold BED had specific impairments in personality traits and personality functioning. Combined assessment indicated that patients with BED had the most vulnerable personality profile of the 4 groups. The results support the added value of assessment of both personality traits and psychodynamic personality functioning, in line with the alternative Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5) model for personality disorders.
This is an open access article under the terms of the Creative Commons Attribution-NonCommercial-... more This is an open access article under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non-commercial and no modifications or adaptations are made.
The introduction of the accurate and procedurally easy non-invasive prenatal test (NIPT) raises e... more The introduction of the accurate and procedurally easy non-invasive prenatal test (NIPT) raises ethical concerns that public attitudes towards prenatal screening may change, leading to societal pressure to participate in aneuploidy screening. This study examined Dutch citizens’ attitudes towards a pregnant woman’s decision to (1) decline NIPT in the context of two different funding policies and (2) to terminate or continue a pregnancy affected by different disorders. The attitudes of 1096 respondents were assessed with the contrastive vignette method, using two pairs of vignettes about declining NIPT and termination of pregnancy. Most respondents either agreed with a woman’s decision to decline NIPT or were neutral about it, stating that this decision should be made independently by women, and does not warrant judgement by others. Interestingly, funding policies did influence respondents’ attitudes: significantly more respondents disagreed with declining NIPT when it was fully reimbursed. Respondents had similar attitudes to the vignettes on termination and continuation of pregnancy in case of Down’s syndrome. In case of Edwards’ or Patau’s syndrome, however, significantly more respondents disagreed with continuation, citing the severity of the disorder and the child’s best interests. This study demonstrates broad acknowledgement of women’s freedom of choice in Dutch society; a finding that may help to rebut existing concerns about societal pressure for pregnant women to participate in prenatal screening. As the reimbursement policy and the scope of NIPT may influence people’s attitudes and elicit moral judgements, however, maintaining freedom of choice warrants sustained efforts by health professionals and policy makers.
The data in Table 2 has been aligned with the variables. "And a logistic regression analysis" has... more The data in Table 2 has been aligned with the variables. "And a logistic regression analysis" has been removed from the text about ruling out the confounders. The format of the subheading "Opinions" has been changed in line with the other subheadings.
Objective: To investigate factors involved in the decision to decline prenatal screening with non... more Objective: To investigate factors involved in the decision to decline prenatal screening with noninvasive prenatal testing (NIPT). Method: A questionnaire study was conducted among 219 pregnant women in the Netherlands who had declined prenatal screening with NIPT (TRIDENT-2 study). Respondents were selectively recruited from three hospitals and 19 midwifery practices, primarily located in or near socioeconomically disadvantaged neighborhoods. 44.3% of the respondents were of non-Western ethnic origin and 64.4% were religious. Results: Most respondents (77.2%) found the decision to decline NIPT easy to make, and 59.8% had already made the decision before information about NIPT was offered. These respondents were more often religious, multigravida, and had adequate health literacy. The main reasons to decline NIPT were "I would never terminate my Lisanne van Prooyen Schuurman and Karuna van der Meij contributed equally to this work. A complete list of all members of the Dutch NIPT Consortium is provided in Appendix 1. This is an open access article under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non-commercial and no modifications or adaptations are made.
In the TRIDENT-2 study, all pregnant women in the Netherlands are offered genome-wide non-invasiv... more In the TRIDENT-2 study, all pregnant women in the Netherlands are offered genome-wide non-invasive prenatal testing (GW-NIPT) with a choice of receiving either full screening or screening solely for common trisomies. Previous data showed that GW-NIPT can reliably detect common trisomies in the general obstetric population and that this test can also detect other chromosomal abnormalities (additional findings). However, evidence regarding the clinical impact of screening for additional findings is lacking. Therefore, we present follow-up results of the TRIDENT-2 study to determine this clinical impact based on the laboratory and perinatal outcomes of cases with additional findings. Between April 2017 and April 2019, additional findings were detected in 402/110,739 pregnancies (0.36%). For 358 cases, the origin was proven to be either fetal (n ¼ 79; 22.1%), (assumed) confined placental mosaicism (CPM) (n ¼ 189; 52.8%), or maternal (n ¼ 90; 25.1%). For the remaining 44 (10.9%), the origin of the aberration could not be determined. Most fetal chromosomal aberrations were pathogenic and associated with severe clinical phenotypes (61/79; 77.2%). For CPM cases, occurrence of pre-eclampsia (8.5% [16/189] vs 0.5% [754/159,924]; RR 18.5), and birth weight <2.3rd percentile (13.6% [24/177] vs 2.5% [3,892/155,491]; RR 5.5) were significantly increased compared to the general obstetric population. Of the 90 maternal findings, 12 (13.3%) were malignancies and 32 (35.6%) (mosaic) pathogenic copy number variants, mostly associated with mild or no clinical phenotypes. Data from this large cohort study provide crucial information for deciding if and how to implement GW-NIPT in screening programs. Additionally, these data can inform the challenging interpretation, counseling, and follow-up of additional findings.
Public engagement for Human Germline Genome Editing (HGGE) has often been called for, for example... more Public engagement for Human Germline Genome Editing (HGGE) has often been called for, for example by the WHO. However, the impact of public engagement remains largely unknown. This study reports on public engagement outcomes in the context of a public dialogue project about HGGE in the Netherlands; the DNA-dialogue. The aim was to inquire opinions and opinion change regarding HGGE. A questionnaire was distributed on a national level (n = 2381) and a dialogue level (n = 414). The results indicate that the majority of the Dutch population agrees with the use of HGGE to prevent severe genetic diseases (68.6%), unlike the use to protect against infectious diseases (39.7%), or for enhancement (8.5%). No indications of change in these acceptance rates as a result of dialogue participation were found. The results did provide a tentative indication that participation in dialogue may lead to less negative opinions about HGGE (χ 2 (1) = 5.14, p = 0.023, OR = 0.56, 95% CI [0.34, 0.93]). While it was not a goal of the project to make people more accepting towards HGGE, this might be the effect of exposure to opinions that are less often heard in the global debate. We conclude that dialogue may lead to different outcomes for different people, depending on their characteristics and their entrance attitude, but does not appear to systematically direct people towards a certain opinion. The self-reported, impacts of dialogue participation included no impact, strengthening of opinion, enabling of forming a first opinion, more insight into the potential implications of HGGE, and a better understanding of other people's perspectives.
Developments in prenatal testing allow the detection of more findings. SNP arrays in prenatal dia... more Developments in prenatal testing allow the detection of more findings. SNP arrays in prenatal diagnosis (PND) can be analyzed at 0.5 Mb resolution detecting more clinically relevant anomalies, or at 5 Mb resolution. We investigated whether women had sufficient knowledge to make informed choices regarding the scope of their prenatal test that were consistent with their attitude. Pregnant women could choose between testing at 5 or at 0.5 Mb array. Consenting women (N = 69) received pre-test genetic counseling by phone and filled out the Measure of Informed Choice questionnaire designed for this study. Choices based on sufficient knowledge and consistent with attitude were considered informed. Sixtytwo percent of the women made an adequately informed choice, based on sufficient knowledge and attitudeconsistent with their choice of microarray resolution. Women who made an informed choice, opted for 0.5 Mb array resolution more often. There were no differences between women making adequately informed or less informed choices regarding level of experienced anxiety or doubts. Over time on T0 and T1, anxiety and doubts significantly decreased. While previous studies demonstrated that knowledge is an important component in informed decision-making, this study underlines that a consistent attitude might be equally important for decision-making. We advocate more focus on attitudeconsistency and deliberation as compared to only a strong focus on knowledge.
On 3rd June 2016 Embase and PubMed databases were systematically searched for all relevant articl... more On 3rd June 2016 Embase and PubMed databases were systematically searched for all relevant articles on prevalence of pathogenic submicroscopic CNVs in fetuses tested due to advanced maternal age or parental anxiety. Relevant full text articles were analysed and based on the extracted data the prevalence of submicroscopic CNVs was calculated. Results: Meta-analysis was conducted in a pooled cohort of 10,614 fetuses based on the 10 largest studies (N > 300) of a total of 19 relevant studies. In 0.84%, 95%CI [0.55%, 1.30%] of fetuses a submicroscopic pathogenic aberration was detected prenatally. The onset/penetrance of the submicroscopic findings was studied in 10,314 fetuses out of 8 papers that presented aberrant cases with all necessary details. The prevalence of early onset syndromic disorders due to a submicroscopic aberration was calculated to be 1:270, based on 0.37%, 95%CI [0.27%, 0.52%] cases where aberrations were specified. Conclusions: This systematic review shows that a significant proportion of fetuses in a general pregnant population carry a submicroscopic pathogenic CNV. Based on these figures all women should be informed on their individual risk for all pathogenic chromosome aberrations and not only for common trisomies. P16.05 The influence of chromosomal microarray and NIPT on the diagnostic yield in 6,811 high-risk pregnancies without ultrasound anomalies
Prenatal diagnostics has been impacted by technological changes in the past decade, which have af... more Prenatal diagnostics has been impacted by technological changes in the past decade, which have affected the diagnostic yield. The aim of this study was to evaluate the impact of SNP array and noninvasive prenatal testing (NIPT) on the diagnostic yield and the number of invasive tests in our center. The frequency of pathogenic fetal unbalanced chromosome aberrations was studied in 10,005 cases referred for prenatal testing in 2009-2015. Chromosomal SNP microarray analysis replaced karyotyping in all invasively tested pregnancies and since 2014 a choice between NIPT and diagnostic testing with microarray was offered to women with an increased risk for common aneuploidy. The introduction of microarray led to an additional yield of submicroscopic pathogenic chromosome aberrations: 3.6% in fetuses with ultrasound anomalies and 1.9% in fetuses without ultrasound anomalies. The introduction of NIPT led to a decrease of invasive tests and of diagnostic yield. Moreover, a diagnostic delay in...
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology, Jan 27, 2017
To establish the frequency of pathogenic submicroscopic chromosome aberrations in fetuses that ar... more To establish the frequency of pathogenic submicroscopic chromosome aberrations in fetuses that are not at increased risk for unbalanced structural chromosome aberrations, a systematic literature search was performed. The aim was to determine whether high resolution testing for submicroscopic aberrations is beneficial in a general pregnant population. On 3rd June 2016 Embase and PubMed databases were systematically searched for all relevant articles on prevalence of pathogenic submicroscopic CNVs in fetuses tested due to advanced maternal age or parental anxiety. Relevant full text articles were analyzed and based on the extracted data the prevalence of submicroscopic CNVs was calculated. Meta-analysis was conducted in a pooled cohort of 10,614 fetuses based on the 10 largest studies (N > 300) of a total of 19 relevant studies. In 0.84%, 95%CI [0.55%, 1.30%] of fetuses a submicroscopic pathogenic aberration was detected prenatally. The onset/penetrance of the submicroscopic findin...
Background Binge eating disorder (BED), as the most prevalent eating disorder, is strongly relate... more Background Binge eating disorder (BED), as the most prevalent eating disorder, is strongly related to obesity and other somatic and psychiatric morbidity. Despite evidence-based treatments a considerable number of BED patients fail to recover. There is preliminary evidence for the association between psychodynamic personality functioning and personality traits on treatment outcome. However, research is limited and results are still contradictory. Identifying variables associated with treatment outcome could improve treatment programs. The aim of the study was to explore whether personality functioning or personality traits are associated with Cognitive Behavioral Therapy (CBT) outcome in obese female patients with BED or subthreshold BED. Methods Eating disorder symptoms and clinical variables were assessed in 168 obese female patients with DSM-5 BED or subthreshold BED, referred to a 6-month outpatient CBT program in a pre-post measurement design. Personality functioning was assess...
The cross-cultural validity of the Outcome Questionnaire (OQ) in the Dutch population has been ex... more The cross-cultural validity of the Outcome Questionnaire (OQ) in the Dutch population has been examined by comparing the psychometric properties and equivalence in factor structure and normative scores of the Dutch OQ with the original American version. Data were collected from a university (n = 268), in a community (n = 810) and from three mental health care organizations (n = 1920). Results show that the psychometric properties of the Dutch OQ were adequate and similar to the original instrument. Some differences in equivalence were found though. In factor analysis, two additional factors were found: one consisting of social role items and another that reflected anxiety and somatic symptoms. Furthermore, normative scores were different for the Dutch and American samples, and this resulted in different cutoff scores for estimating a clinically significant change in the Dutch population.
Poster discussion hub abstracts 33 (8.2%). Among fetuses with structural ultrasound abnormalities... more Poster discussion hub abstracts 33 (8.2%). Among fetuses with structural ultrasound abnormalities and normal karyotype(n=369) that underwent CMA, the detection rate of copy number variants (CNV) was 22.2% (82/369), including pathogenic CNV in 11.4% (42/369) and variants of uncertain clinical significance (VOUS) in 10.8% (40/369). In the groups of cardiac, central nervous, musculoskeletal, facial and urogenital malformations, the rate of the pathogenic CNV were 16.6% (38/229), 21.9% (14/64), 15.5% (15/97), 13.5% (7/52) and 18.8% (6/32) respectively. Ultrasound anomaly restricted to one anatomical system (n=238) had a 10.5% (n=25) chance of carrying a pathogenic CNV, while this chance increased to 13.0% (n=17) for multiple ultrasound anomalies (n=131). Conclusions: In the assessment of genetic abnormalities in pregnancies with fetal anomalies, the diagnostic yield may be increased by 22% if CMA is used as a complementary tool to conventional cytogenetics. Our results suggest that CMA is valuable in prenatal genetic diagnosis of fetuses with fetal anomalies.
Problems in scale construction arise in a variety of social research areas. For a long time, the ... more Problems in scale construction arise in a variety of social research areas. For a long time, the measurement of democracy, and the development of a democracy scale positioning independent states relative to each other, has been a major concern in political science. Although there are a number of democracy indices known from literature, the most widely used measure has been
In psychometrics two types of item response data can be distinguished, bipolar and unipolar (sing... more In psychometrics two types of item response data can be distinguished, bipolar and unipolar (single-peaked) data. In this paper we focus on single-peaked data. Two types of methods commonly used to handle single-peaked item response data are the IRT-like probabilistic unfolding models (U-IRT) such as the Generalized Graded Unfolding Model for single-peaked data (GGUM) (see for example Roberts and Laughlin, 1996)), and the multidimensional unfolding models (MDU) developed within the multidimensional scaling framework (see for example Heiser, 1981; Busing, Groenen and Heiser, 2002). One major drawback of the probabilistic models is that only unidimensional scales can be represented. Often items do not fit within this scale and are therefore ignored for further analysis. Furthermore, these methods rely on the probabilistic framework and thus some assumed distribution which may or may not hold. A major drawback of the MDU models is that the minimization procedure can be hampered by loca...
Scandinavian Journal of Child and Adolescent Psychiatry and Psychology, 2017
Background: The Dimensional Assessment of Personality Pathology – Short Form for Adolescents (DAP... more Background: The Dimensional Assessment of Personality Pathology – Short Form for Adolescents (DAPP-SF-A) is an ageadapted version of the DAPP Basic Questionnaire (DAPP-BQ). The psychometric properties of this questionnaire were established by Tromp and Koot. However, norming data are currently available exclusively for Dutch adolescents. Objective: The main aim of this study was to provide community-based norming data for the DAPP-SF-A in Flemish adolescents and separately for boys and girls. The second aim was to compare the Flemish norms with the Dutch norms. Method: The sample consisted of 425 adolescents (52% girls), aged 16 to 21 years (mean, 18.6; SD, 1.16), from the general Flemish population. In 2012, all respondents completed the DAPP-SF-A and the Youth Self-Report as a part of the longitudinal Flemish Study on Parenting, Personality, and Development. Results: Internal consistency reliabilities of the lower-order dimensions were acceptable to good (α ranged from 0.71 to 0.8...
Objective: There is preliminary evidence for an association between personality traits and binge ... more Objective: There is preliminary evidence for an association between personality traits and binge eating disorder (BED) in obese patients. In addition, recent studies have shown impaired psychodynamic personality functioning in BED. However, these results are partly inconsistent. The goal of this study was to explore and evaluate personality traits and personality functioning in obese patients with BED or subthreshold BED. Moreover, we aimed to explore the additional value of combined assessment of personality traits and personality functioning. Methods: Treatment-seeking obese female patients with BED (n=129) or subthreshold BED (n=91) were compared with obese (n=107) and nonobese (n=90) female community controls in terms of personality traits (using the Temperament and Character Inventory) and personality functioning (using the Developmental Profile Inventory) in univariate and multivariate analyses. Results: Harm Avoidance was higher and Self-Directedness was lower in obese patients with BED or subthreshold BED compared with obese and nonobese community controls. In addition, obese patients with BED or subthreshold BED presented more maladaptive and less adaptive personality functioning than controls. Although univariate analyses did not find significant differences in personality traits or personality functioning between obese patients with BED and those with subthreshold BED, when both personality traits and personality functioning were combined in multivariate analysis (data from both the Temperament and Character Inventory and Developmental Profile Inventory), obese patients with BED showed greater vulnerabilities in personality traits and functioning than obese patients with subthreshold BED. Conclusions: Obese patients with BED or subthreshold BED had specific impairments in personality traits and personality functioning. Combined assessment indicated that patients with BED had the most vulnerable personality profile of the 4 groups. The results support the added value of assessment of both personality traits and psychodynamic personality functioning, in line with the alternative Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5) model for personality disorders.
This is an open access article under the terms of the Creative Commons Attribution-NonCommercial-... more This is an open access article under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non-commercial and no modifications or adaptations are made.
The introduction of the accurate and procedurally easy non-invasive prenatal test (NIPT) raises e... more The introduction of the accurate and procedurally easy non-invasive prenatal test (NIPT) raises ethical concerns that public attitudes towards prenatal screening may change, leading to societal pressure to participate in aneuploidy screening. This study examined Dutch citizens’ attitudes towards a pregnant woman’s decision to (1) decline NIPT in the context of two different funding policies and (2) to terminate or continue a pregnancy affected by different disorders. The attitudes of 1096 respondents were assessed with the contrastive vignette method, using two pairs of vignettes about declining NIPT and termination of pregnancy. Most respondents either agreed with a woman’s decision to decline NIPT or were neutral about it, stating that this decision should be made independently by women, and does not warrant judgement by others. Interestingly, funding policies did influence respondents’ attitudes: significantly more respondents disagreed with declining NIPT when it was fully reimbursed. Respondents had similar attitudes to the vignettes on termination and continuation of pregnancy in case of Down’s syndrome. In case of Edwards’ or Patau’s syndrome, however, significantly more respondents disagreed with continuation, citing the severity of the disorder and the child’s best interests. This study demonstrates broad acknowledgement of women’s freedom of choice in Dutch society; a finding that may help to rebut existing concerns about societal pressure for pregnant women to participate in prenatal screening. As the reimbursement policy and the scope of NIPT may influence people’s attitudes and elicit moral judgements, however, maintaining freedom of choice warrants sustained efforts by health professionals and policy makers.
Uploads
Papers by Marike Polak