Introduction of a nationwide first-trimester anomaly scan in the Dutch national screening program.

BACKGROUND: A significant proportion of major fetal structural anomalies can be detected in the first trimester by ultrasound examination. However, the test performance of the first-trimester anomaly scan performed in a low-risk population as part of a nationwide prenatal screening program is unknown. Potential benefits of the first-trimester anomaly scan include early detection of fetal anomalies, providing parents with more time for reproductive decision-making. OBJECTIVE: To investigate the uptake, test performance, and time to a final prenatal diagnosis after referral. STUDY DESIGN: A nationwide implementation study was conducted in the Netherlands (November 2021-November 2022). The FTAS was performed between 12+3 and 14+3 weeks of gestation by certified sonographers using a standard protocol. Women were referred to a tertiary care center if anomalies were suspected. Uptake, test performance, and time to a final prenatal diagnosis (days between referral and date of final diagnosis/prognosis for reproductive decision-making) were determined. Test performance was calculated for first-trimester major congenital anomalies, such as anencephaly and holoprosencephaly and all diagnosed anomalies <24 weeks of gestation. RESULTS: The first-trimester anomaly scan uptake was 74.9% (129,704/173,129). In 1.0% (1313/129,704), an anomaly was suspected, of which 54.9% (n=721) had abnormal findings on the detailed first-trimester diagnostic scan and 44.6% (n=586) showed normal results. In 0.5% (n=6), intrauterine fetal death occurred. In the total group of 721 cases with abnormal findings, 332 structural anomalies, 117 genetic anomalies, 82 other findings (abnormal fetal biometry, sonomarkers, placental/umbilical cord anomaly, an-/oligohydramnios), and 189 cases with transient findings (defined as ultrasound findings which resolved <24 weeks of gestation) were found, with 1 case having an unknown outcome. 0.9% (n=1164) of all cases with a normal first-trimester anomaly scan were diagnosed with a fetal anomaly in the second trimester. Test performance included a sensitivity of 84.6% (126/149) for first-trimester major congenital anomalies and 31.6% (537/1701) for all types of anomalies. Specificity for all anomalies was 99.2% (98,055/98,830); positive predictive value 40.9% (537/1312); negative predictive value 98.8% (98,055/99,219); positive likelihood ratio 40.3; negative likelihood ratio 0.7; false positive rate 0.8% (775/98,830), and false negative rate 68.4% (1164/1701). The median time to diagnosis for structural anomalies was 20 days (6-43 days; median gestational age 16+3), for genetic anomalies 17 days (8.5-27.5 days; median gestational age 15+6 weeks), and for first-trimester major congenital anomalies 9 days (5-22 days; median gestational age 14+6 weeks). CONCLUSION: The performance of a newly introduced nationwide first-trimester anomaly scan in a low-risk population showed a high sensitivity for first-trimester major congenital anomalies and a lower sensitivity for all anomalies combined. The program was accompanied by a referral rate of 1.0%, of which 59.1% involved cases where anomalies were either not confirmed or resolved before 24 weeks gestation. Timing of diagnosis was around 16 weeks of gestation for referred cases. To evaluate the balance between benefits and potential harm of the first-trimester anomaly scan within a nationwide prenatal screening program, it is essential to assess the effectiveness of the program over time and to consider the perspectives of both women and their partners, as well as healthcare professionals.

Fetal fraction of cell-free DNA in noninvasive prenatal testing and adverse pregnancy outcomes: a nationwide retrospective cohort study of 56,110 pregnant women.

BACKGROUND: Noninvasive prenatal testing by cell-free DNA analysis is offered to pregnant women worldwide to screen for fetal aneuploidies. In noninvasive prenatal testing, the fetal fraction of cell-free DNA in the maternal circulation is measured as a quality control parameter. Given that fetal cell-free DNA originates from the placenta, the fetal fraction might also reflect placental health and maternal pregnancy adaptation. OBJECTIVE: This study aimed to assess the association between the fetal fraction and adverse pregnancy outcomes. STUDY DESIGN: We performed a retrospective cohort study of women with singleton pregnancies opting for noninvasive prenatal testing between June 2018 and June 2019 within the Dutch nationwide implementation study (Trial by Dutch Laboratories for Evaluation of Non-Invasive Prenatal Testing [TRIDENT]-2). Multivariable logistic regression analysis was used to assess associations between fetal fraction and adverse pregnancy outcomes. Fetal fraction was assessed as a continuous variable and as <10th percentile, corresponding to a fetal fraction <2.5%. RESULTS: The cohort comprised 56,110 pregnancies. In the analysis of fetal fraction as a continuous variable, a decrease in fetal fraction was associated with increased risk of hypertensive disorders of pregnancy (adjusted odds ratio, 2.27 [95% confidence interval, 1.89-2.78]), small for gestational age neonates <10th percentile (adjusted odds ratio, 1.37 [1.28-1.45]) and <2.3rd percentile (adjusted odds ratio, 2.63 [1.96-3.57]), and spontaneous preterm birth from 24 to 37 weeks of gestation (adjusted odds ratio, 1.02 [1.01-1.03]). No association was found for fetal congenital anomalies (adjusted odds ratio, 1.02 [1.00-1.04]), stillbirth (adjusted odds ratio, 1.02 [0.96-1.08]), or neonatal death (adjusted odds ratio, 1.02 [0.96-1.08]). Similar associations were found for adverse pregnancy outcomes when fetal fraction was <10th percentile. CONCLUSION: In early pregnancy, a low fetal fraction is associated with increased risk of adverse pregnancy outcomes. These findings can be used to expand the potential of noninvasive prenatal testing in the future, enabling the prediction of pregnancy complications and facilitating tailored pregnancy management through intensified monitoring or preventive measures.

Perspectives of pregnant women on broadening the scope of noninvasive prenatal testing from screening for foetal aneuploidies to prediction of adverse pregnancy outcomes: A qualitative study.

OBJECTIVE: To explore the perspectives of pregnant women on broadening the scope of noninvasive prenatal testing (NIPT) from screening for foetal aneuploidies to prediction of adverse pregnancy outcomes. METHODS: Four online focus groups (n = 23 participants) and 14 individual semi-structured interviews were conducted. Participants included pregnant women with and without a history of adverse pregnancy outcomes. RESULTS: Both women at low and high risk of adverse pregnancy outcomes had a positive attitude towards using NIPT to predict adverse pregnancy outcomes. Perceived benefits included the possibility to potentially improve maternal and foetal outcomes by taking risk-reducing measures and/or intensified monitoring during pregnancy and the ability to mentally prepare for the potential adverse outcome. Perceived concerns included anxiety and stress caused by a high-risk test result, a false sense of control over pregnancy, and potential false reassurance. Additionally, women reasoned that broadening the scope of NIPT could increase the complexity of prenatal screening and raised concerns on the combined screening aims in one test (prediction of adverse pregnancy outcomes to improve foetal and maternal health vs. screening for foetal aneuploidies to increase reproductive autonomy). On a societal level, considerations on the risk of medicalising pregnancy and overall pressure to opt for NIPT were mentioned. CONCLUSION: In general, pregnant women have a positive attitude towards broadening the scope of NIPT to the prediction of pregnancy outcomes, although some concerns are acknowledged.

Have the results of the TOTAL-trials changed the attitude and practice of maternal-fetal medicine specialists?

OBJECTIVE: To explore the views and practices of maternal-fetal medicine specialists on offering fetoscopic endoluminal tracheal occlusion (FETO) for left- and right-sided congenital diaphragmatic hernia (LCDH, RCDH) in the post Tracheal Occlusion To Accelerate Lung growth (TOTAL)-trial era. METHOD: Cross-sectional knowledge, attitude and practice survey was conducted among 105 attendees of the 19th World Congress of Fetal Medicine. RESULTS: On average, respondents were knowledgeable about CDH, involved in research, and provided antenatal treatment options. Four out of five (82%) agreed that neonatal survival in LCDH can be reliably predicted in the prenatal period. Few respondents considered the exact risks and benefits of FETO for severe LCDH as being unclear (16%), yet half were uncertain about this for moderate LCDH (57%) and severe RCDH (45%). Most respondents offer FETO for severe LCDH (97%) and RCDH (79%), but only 59% offer it for moderate LCDH. However, half of respondents (58%) stated that not offering FETO for moderate LCDH would be a psychological burden for parents. CONCLUSION: Respondents consider the risk-benefit ratio of FETO for severe LCDH clear and consistently offer FETO, but not for moderate LDCH and severe RCDH. However, not offering the option of FETO to parents was considered a psychological burden.

Patient-reported outcomes for congenital diaphragmatic hernia: A qualitative study.

OBJECTIVE: To identify Patient-reported outcomes (PROs) for parents with a lived experience of a prenatal diagnosis of isolated congenital diaphragmatic hernia (CDH). METHOD: Thematic analysis of in-depth interview transcripts. RESULTS: Interviews (n = 26) identified 11 PROs for given time points throughout the CDH trajectory. At the time of diagnosis, acceptable quality of life was selected as relevant PRO to decide whether to continue or terminate the pregnancy. During pregnancy, (neonatal) survival chances and the eligibility for foetal therapy were prominent outcomes with foetal and maternal complications adding distress. After birth, postnatal management options became the next milestone. When survival was deemed likely, post-hospital discharge complications and future care for infant and child became important. In retrospect, impact on family, bonding, parental mental health, and parental satisfaction with care were reported as relevant outcomes. CONCLUSION: PROs are relevant in addition to hard medical outcomes, as they help parents to make decisions suiting their unique needs and personal situation. Given the knowledge inherently related to the parent's perspective, our findings provide relevant directions for clinicians to support parents and their family in facing challenging decisions in healthcare. The outcomes impacting parents are essential to prepare parents for the steep journey ahead.

Factors involved in the decision to decline prenatal screening with noninvasive prenatal testing (NIPT).

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 pregnancy" (57.1%) and "every child is welcome" (56.2%). For 16.9% of respondents, the out-of-pocket costs (175 euros) played a role in the decision, and the women in this group were more often nonreligious, primigravida, and had inadequate health literacy. CONCLUSION: The primary factors involved in the decision to decline NIPT were related to personal values and beliefs, consistent with autonomous choice. Out-of-pocket costs of NIPT hinder equal access for some pregnant women.

Current practice of first-trimester ultrasound screening for structural fetal anomalies in developed countries.

OBJECTIVES: First-trimester ultrasound screening is increasingly performed to detect fetal anomalies early in pregnancy, aiming to enhance reproductive autonomy for future parents. This study aims to display the current practice of first-trimester ultrasound screening in developed countries. METHOD: An online survey among 47 prenatal screening experts in developed countries. RESULTS: First-trimester structural anomaly screening is available in 30 of the 33 countries and is mostly offered to all women with generally high uptakes. National protocols are available in 23/30 (76.7%) countries, but the extent of anatomy assessment varies. Monitoring of scan quality occurs in 43.3% of the countries. 23/43 (53.5%) of the respondents considered the quality of first-trimester ultrasound screening unequal in different regions of their country. CONCLUSIONS: First-trimester screening for structural fetal anomalies is widely offered in developed countries, but large differences are reported in availability and use of screening protocols, the extent of anatomy assessment, training and experience of sonographers and quality monitoring systems. Consequently, this results in an unequal offer to parents in developed countries, sometimes even within the same country. Furthermore, as offer and execution differ widely, this has to be taken into account when results of screening policies are scientifically published or compared.

A cross-country comparison of pregnant women's decision-making and perspectives when opting for non-invasive prenatal testing in the Netherlands and Belgium.

BACKGROUND: The Netherlands and Belgium have been among the first countries to offer non-invasive prenatal testing (NIPT) as a first-tier screening test. Despite similarities, differences exist in counseling modalities and test uptake. This study explored decision-making and perspectives of pregnant women who opted for NIPT in both countries. METHODS: A questionnaire study was performed among pregnant women in the Netherlands (NL) (n = 587) and Belgium (BE) (n = 444) opting for NIPT, including measures on informed choice, personal and societal perspectives on trisomy 21, 18 and 13 and pregnancy termination. RESULTS: Differences between Dutch and Belgian women were shown in the level of informed choice (NL: 83% vs. BE: 59%, p < 0.001), intention to terminate the pregnancy in case of confirmed trisomy 21 (NL: 51% vs. BE: 62%, p = 0.003) and trisomy 13/18 (NL: 80% vs. BE: 73%, p = 0.020). More Belgian women considered trisomy 21 a severe condition (NL: 64% vs. BE: 81%, p < 0.001). Belgian women more frequently indicated that they believed parents are judged for having a child with trisomy 21 (BE: 42% vs. NL: 16%, p < 0.001) and were less positive about quality of care and support for children with trisomy 21 (BE: 23% vs. NL: 62%, p < 0.001). CONCLUSION: Differences in women's decision-making regarding NIPT and the conditions screened for may be influenced by counseling aspects and country-specific societal and cultural contexts.

Informed choice and routinization of the second-trimester anomaly scan: a national cohort study in the Netherlands.

BACKGROUND: Since 2007 all pregnant women in the Netherlands are offered the second-trimester anomaly scan (SAS) in a nationwide prenatal screening program. This study aims to assess the level of informed choice of women opting for the SAS and to evaluate the presence of routinization 16 years after its implementation. It further explores decisional conflict and women's decision making. METHODS: This prospective national survey study consisted of an online questionnaire which was completed after prenatal counseling and before undergoing the SAS. Informed choice was measured by the adapted multidimensional measure of informed choice (MMIC) and was defined in case women were classified as value-consistent, if their decision for the SAS was deliberated and made with sufficient knowledge. RESULTS: A total of 894/1167 (76.6%) women completed the questionnaire. Overall, 54.8% made an informed choice, 89.6% had good knowledge, 59.8% had deliberated their choice and 92.7% held a positive attitude towards the SAS. Women with low educational attainment (p=0.004) or respondents of non-Western descent (p=0.038) were less likely to make an informed choice. Decisional conflict was low, with a significantly lower decisional conflict score in women that made an informed choice (p<0.001). Most respondents (97.9%) did not perceive pressure to undergo the SAS. CONCLUSIONS: Our study showed a relatively low rate of informed choice for the SAS, due to absence of deliberation. Therefore, some routinization seem to be present in the Netherlands. However, most women had sufficient knowledge, did not perceive pressure and experienced low decisional conflict.

What should we tell parents? Congenital diaphragmatic hernia.

Congenital diaphragmatic hernia (CDH) is characterized by a defect in the muscle dividing the thoracic and abdominal cavities. This leads to herniation of the abdominal organs into the thorax and a disturbance of lung development. Two-thirds of cases are identified by prenatal ultrasound in the second trimester, which should prompt referral to a tertiary center for prognosis assessment and counseling by a multidisciplinary team familiar with this condition. In this review, we summarize evidence on prenatal diagnosis and postnatal management of CDH. There is a focus on information that should be provided to expecting parents during prenatal counseling.

Prenatal diagnosis of congenital diaphragmatic hernia: Parental counselling and support needs.

OBJECTIVE: To define the dimensions of patient-centeredness of prenatal care for parents who had a fetus with isolated congenital diaphragmatic hernia (CDH) by exploring their values, experiences, needs and preferences. METHODS: In-depth interviews with parents who were faced with the prenatal diagnosis of isolated CDH. RESULTS: Interviews (n = 18) identified seven dimensions of patient-centeredness. Parental preferences are respected by unconditional acceptance of parental choices and needs. After diagnosis access to care should occur by swift referral to a specialised centre to prevent parents receiving contradictory information. Information and education help parents to gain some sense of control and cope with the many uncertainties. A multidisciplinary team with a coordinating professional is perceived supportive (coordination and integration), and seamless referral between local and treatment centres reduces parental distress (continuity and transition). Family-centred emotional support helps parents to cope with emotions and distress. Informal support by involvement of family and friends and trusted peer-support is of added value. CONCLUSION: The impact of the uncertainty of outcome in this condition is tremendous and needs to be considered when providing prenatal care. After initial diagnosis, one should avoid speculation about the severity of the condition and outcome, and provide swift referral to a specialist centre expert in managing CDH. Provision of realistic and comprehensive information helps parents cope. Multidisciplinary and continuous support throughout the full trajectory, but also integrated psychosocial support should become standard-of-care.

Cost-effectiveness of mental health interventions during and after pregnancy: A systematic review.

BACKGROUND: Mental health problems during and after pregnancy such as depression, anxiety, post-traumatic stress disorder (PTSD), or addiction are common and can have lifelong implications for both parents and offspring. This review investigates the cost-effectiveness of interventions tackling these problems, assesses the methodological quality of included studies, and indicates suggestions for further research. METHODS: Thirteen databases were searched for economic evaluations of interventions related to antenatal, perinatal, and postnatal mental health conditions, published between 2000 and September 2021, in high-income countries. RESULTS: Thirty-nine studies met all inclusion criteria. Interventions considered were screening programs, pharmacological treatments, and various forms of psychosocial and psychological support. Six studies reported that the intervention was cost-saving. Eighteen were cost-effective and seven likely to be cost-effective. Only six studies included health outcomes for the child; one study considered paternal health. The time horizon for which costs and consequences were considered was for most evaluations limited to 1 year (n = 18) or 2 years (n = 11) postpartum. CONCLUSIONS: Given the importance of the subject, a relatively low number of studies have investigated the cost-effectiveness of interventions tackling mental health problems during and after pregnancy. The scant evidence available suggests good overall value for money. Likely, cost-effectiveness is underestimated as costly long-term consequences on offspring are systematically excluded. No evidence was found for several frequently occurring conditions. Further research is required to obtain reliable, long-term effectiveness data and to address the methodological challenges related to measuring all relevant health outcomes for all parties affected.

Barriers and facilitators to hepatitis C screening and treatment for people with lived experience of homelessness: A mixed-methods systematic review.

BACKGROUND: People experiencing homelessness have an increased risk of hepatitis C virus (HCV) infection, with rates higher than the general population. However, their access to HCV diagnosis is limited and treatment uptake is low. OBJECTIVES: To identify and describe the barriers and facilitators for HCV screening and treatment for adults with lived experience of homelessness in highly developed countries. METHODS: Bibliographic databases (Embase, MEDLINE, CINAHL and SocINDEX) and grey literature (Google, EThOS, the Health Foundation, Social Care Online, the World Health Organisation, Shelter, Crisis and Pathway) were searched. Two reviewers independently screened and appraised all studies. The Critical Appraisal Skills Programme tool and the Joanna Briggs Institute checklist were used. The analysis involved a three-stage process: coding, theme generation and theme mapping under Penchansky and Thomas's modified access model. RESULTS: Twelve papers/reports were included in the review. Several interacting factors influence access of people with lived experience of homelessness to HCV testing and treatment. Some mirror those identified for the general population. The precarious conditions associated with the lived experience of homelessness along with the rigidity of hospital settings and lack of awareness emerged as dominant barriers. Flexibility, outreach, effective communication, tailoring and integration of services were found to be important facilitators. Evidence from Black, Asian and minority ethnic groups is limited. CONCLUSIONS: People experiencing homelessness face multiple barriers in accessing and completing HCV treatment, relating to both their lived experience and characteristics of health systems. Although some barriers are readily amenable to change, others are more difficult to modify. The facilitators identified could inform future targeted measures to improve HCV diagnosis and treatment for people experiencing homelessness. Research is warranted into successful models to promote screening, diagnosis and treatment. PATIENT OR PUBLIC CONTRIBUTION: Our team includes a peer advocate, a hepatology nurse and a community volunteer, all with significant experience in promoting and engaging in HCV care and outreach for people experiencing homelessness. They contributed to the protocol, interpretation and reporting of the review findings.

The TOTAL trial dilemma: A survey among professionals on equipoise regarding fetal therapy for severe congenital diaphragmatic hernia.

OBJECTIVE: Running randomized clinical trials (RCT) in fetal therapy is challenging. This is no different for fetoscopic endoluminal tracheal occlusion (FETO) for severe left-sided Congenital Diaphragmatic Hernia (CDH). We assessed the knowledge, attitude and practice (KAP) of maternal-fetal medicine specialists toward the antenatal management of CDH, and the randomized controlled clinical (RCT) "Tracheal Occlusion To Accelerate Lung growth-trial." METHODS: A cross-sectional KAP-survey was conducted among 311 registrants of the 18th World Congress in Fetal Medicine. RESULTS: The overall knowledge of CDH and FETO was high. Remarkably only 45% considers prenatal prediction of neonatal outcome reliable. Despite, in their clinical practice they perform severity assessment (80%) and refer families for FETO either within the context of an RCT (43%) or on patient request (32%). Seventy percent perceives not offering FETO on patient demand seems as if no treatment is provided to a fetus with predicted poor outcome. Only 20% of respondents considers denying access to FETO on patient demand not as a psychological burden. CONCLUSION: Often the views of individual respondents contradicted with their clinical practice. It seems that, for severe CDH, clinicians face personal and practical dilemmas that undermine equipoise. To us, this indicates the tension between the clinical and scientific obligations physicians experience.

'We did everything we could'- a qualitative study exploring the acceptability of maternal-fetal surgery for spina bifida to parents.

OBJECTIVE: To explore the concepts and strategies parents employ when considering maternal-fetal surgery (MFS) as an option for the management of spina bifida (SB) in their fetus, and how this determines the acceptability of the intervention. METHODS: A two-centre interview study enrolling parents whose fetuses with SB were eligible for MFS. To assess differences in acceptability, parents opting for MFS (n = 24) were interviewed at three different moments in time: prior to the intervention, directly after the intervention and 3-6 months after birth. Parents opting for termination of pregnancy (n = 5) were interviewed only once. Themes were identified and organised in line with the framework of acceptability. RESULTS: To parents opting for MFS, the intervention was perceived as an opportunity that needed to be taken. Feelings of parental responsibility drove them to do anything in their power to improve their future child's situation. Expectations seemed to be realistic yet were driven by hope for the best outcome. None expressed decisional regret at any stage, despite substantial impact and, at times, disappointing outcomes. For the small group of participants, who decided to opt for termination of pregnancy (TOP), MFS was not perceived as an intervention that substantially could improve the quality of their future child's life. CONCLUSION: Prospective parents opting for MFS were driven by their feelings of parental responsibility. They recognise the fetus as their future child and value information and care focusing on optimising the child's future health. In the small group of parents opting for TOP, MFS was felt to offer insufficient certainty of substantial improvement in quality of life and the perceived severe impact of SB drove their decision to end the pregnancy.

Implementation of a standard outcome set in perinatal care: a qualitative analysis of barriers and facilitators from all stakeholder perspectives.

BACKGROUND: To improve their quality, healthcare systems are increasingly focused on value delivered to patients. For perinatal care, the International Consortium for Health Outcomes Measurement (ICHOM) proposed a patient-centred outcome set with both clinical and patient-reported measures for pregnancy and childbirth (PCB set). This study aimed to identify factors that affect the implementation of the PCB set at the pre-implementation stage, using the consolidated framework for implementation research (CFIR). METHODS: In this qualitative study, we conducted semi-structured interviews amongst a purposive sample of key stakeholders within an obstetric care network (OCN): 1) patients, 2) perinatal care professionals involved in the full cycle of perinatal care, and 3) policy makers, including hospital managers, administrative staff and health care insurers. While the CFIR guided data capture and structuring, thematic analysis revealed overarching themes that best reflected the barriers and facilitators from different stakeholder perspectives. Within these overarching themes, the CFIR constructs were maintained. RESULTS: Interviews were conducted with 6 patients, 16 professionals and 5 policy makers. Thematic analysis supported by the CFIR framework identified four main themes: the instrument and its implementation process, use in individual patient care, use in quality improvement, and the context of the OCN. Important barriers included professional workload, data reliability, and interprofessional and interorganizational collaboration. Potential facilitators were the PCB set's direct value in individual care, interprofessional feedback and education, and aligning with existing systems. Prominent variations between stakeholder groups included the expected patient burden, the level of use, transparency of outcomes and the degree of integrated care. CONCLUSIONS: This study clarified critical factors that affect successful implementation of the PCB set in perinatal care. Practice recommendations, suggested at multiple levels, can enable structural patient-centred care improvement and may unite stakeholders towards integrated birth care.

Receiving the news of Down syndrome in the era of prenatal testing.

OBJECTIVE: To explore the prenatal trajectory and the experiences of mothers of a child with Down syndrome (DS) at the time of receiving information or test results when participating in a nationwide prenatal screening program. METHODS: An online questionnaire study was completed by mothers of children with DS born between January 1, 2010 and February 28, 2016 (n = 212). Data were collected between February 15 and 28, 2016. RESULTS: Most of the live born children with DS were diagnosed postnatally. The majority of their mothers had explicitly chosen not to have prenatal DS screening. Of the 39 mothers prenatally informed their child might have DS, only 49% were completely or mostly satisfied about the information provided by their clinical providers at that time. About 16% of women (of the 38 that answered this question) recall some perceived emphasis on the option of terminating pregnancy as the first choice. Mothers who had received a postnatal diagnosis rated the experience as more positive than their counterparts who received prenatal diagnoses. CONCLUSION: With recent developments in screening, more parents are expected to receive a DS diagnosis before birth. Meeting the parents' individual counseling needs at the time of prenatal diagnosis requires careful exploration of their personal values and preferences.

Perspectives, preferences and needs regarding early prediction of preeclampsia in Dutch pregnant women: a qualitative study.

BACKGROUND: To improve early risk-identification in pregnancy, research on prediction models for common pregnancy complications is ongoing. Therefore, it was the aim of this study to explore pregnant women's perceptions, preferences and needs regarding prediction models for first trimester screening for common pregnancy complications, such as preeclampsia, to support future implementation. METHOD: Ten focus groups (of which five with primiparous and five with multiparous women) were conducted (n = 45). Six focus groups were conducted in urban regions and four in rural regions. All focus group discussions were audio taped and NVIVO was used in order to facilitate the thematic analysis conducted by the researchers. RESULTS: Women in this study had a positive attitude towards first trimester screening for preeclampsia using prediction models. Reassurance when determined as low-risk was a major need for using the test. Self-monitoring, early recognition and intensive monitoring were considered benefits of using prediction models in case of a high-risk. Women acknowledged that high-risk determination could cause (unnecessary) anxiety, but it was expected that personal and professional interventions would level out this anxiety. CONCLUSION: Women in this study had positive attitudes towards preeclampsia screening. Self-monitoring, together with increased alertness of healthcare professionals, would enable them to take active actions to improve pregnancy outcomes. This attitude enhances the opportunities for prevention, early recognition and treatment of preeclampsia and probably other adverse pregnancy outcomes.

Reasons for accepting or declining Down syndrome screening in Dutch prospective mothers within the context of national policy and healthcare system characteristics: a qualitative study.

BACKGROUND: Uptake rates for Down syndrome screening in the Netherlands are low compared to other European countries. To investigate the low uptake, we explored women's reasons for participation and possible influences of national healthcare system characteristics. Dutch prenatal care is characterised by an approach aimed at a low degree of medicalisation, with pregnant women initially considered to be at low risk. Prenatal screening for Down syndrome is offered to all women, with a 'right not to know' for women who do not want to be informed on this screening. At the time this study was performed, the test was not reimbursed for women aged 35 and younger. METHODS: We conducted a qualitative study to explore reasons for participation and possible influences of healthcare system characteristics. Data were collected via ten semi-structured focus groups with women declining or accepting the offer of Down syndrome screening (n = 46). All focus groups were audio- and videotaped, transcribed verbatim, coded and content analysed. RESULTS: Women declining Down syndrome screening did not consider Down syndrome a condition severe enough to justify termination of pregnancy. Young women declining felt supported in their decision by perceived confirmation of their obstetric caregiver and reassured by system characteristics (costs and age restriction). Women accepting Down syndrome screening mainly wanted to be reassured or be prepared to care for a child with Down syndrome. By weighing up the pros and cons of testing, obstetric caregivers supported young women who accepted in the decision-making process. This was helpful, although some felt the need to defend their decision to accept the test offer due to their young age. For some young women accepting testing, costs were considered a disincentive to participate. CONCLUSIONS: Presentation of prenatal screening affects how the offer is attended to, perceived and utilised. By offering screening with age restriction and additional costs, declining is considered the preferred choice, which might account for low Dutch uptake rates. Autonomous and informed decision-making in Down syndrome screening should be based on the personal interest in knowing the individual risk of having a child with Down syndrome and system characteristics should not influence participation.