Prenatal diagnosis (or lack thereof) of arthrogryposis multiplex congenita and its impact on the perinatal experience of parents: A retrospective survey.

OBJECTIVE: To examine parental experiences during pregnancies affected by Arthrogryposis Multiplex Congenita (AMC) by identifying commonalities, risk factors, and areas for improvement in detection rates, care protocols, and patient experience. STUDY DESIGN: An online survey was distributed via AMC support groups on Facebook. Topics included demographics, risk factors, parental recall of sonographic findings, delivery characteristics and neonatal findings. Responses were divided into antenatally detected cases (ADCs) and postnatally detected cases (PDCs). Quantitative responses were analyzed with the Fisher exact test. Qualitative data were analyzed with thematic analysis. RESULTS: The antenatal detection rate of arthrogryposis was 37%. Decreased fetal movement was reported by 53% and early bleeding by 21%. Sonographic findings in ADCs included clubfoot (83%), clenched hand (51%), decreased fetal movement (50%), elbow contracture (51%), and knee contracture (46%). Among ADCs, 29% delivered vaginally and 71% delivered by cesarean versus PDCs (44% vaginal, 56% cesarean). Neonatal intensive care unit admission rate was 63%. Bone fracture occurred in 9%. Detection led to a planned change in delivery mode in 33% and location in 50%. Among ADCs, 17% felt their concerns were not adequately addressed versus 43% of PDCs. CONCLUSIONS: Antenatal detection of arthrogryposis was low. We propose enhanced screening criteria to aid prenatal diagnosis and promote utilization of more robust practice guidelines.

Parental refusal of prenatal screening for aneuploidies.

OBJECTIVES: To analyze the reasons for refusal of aneuploidy screening in a multicultural Middle Eastern population. METHODS: The study included patients delivering in a university hospital, who had refused aneuploidy screening during their pregnancy. We evaluated through a questionnaire submitted during the postpartum period the sociodemographic characteristics, beliefs, attitudes, and the main reason underpinning their choice. Religious, ethical, and financial factors, personal beliefs, medical information, perceived media information, and familial input were assessed through a Likert scale. RESULTS: Our pilot study included 70 patients. The main reason (33 %) was the refusal to terminate pregnancy if the screening tests ultimately led to a diagnosis of aneuploidy. Lack of adequate information on the availability and benefits of this screening method (28 %), religious beliefs (17 %), in addition to other minor reasons such as financial considerations, familial recommendations, late pregnancy follow-ups, and media influence were also identified as contributing factors. CONCLUSIONS: Aneuploidy screening is routinely offered to couples, with varying uptake rates observed worldwide. Sufficient information on prenatal screening and diagnosis should be provided to all pregnant women, presenting all available options, thus enabling them to make a free and informed choice during their pregnancy.

Should non-invasive prenatal testing (NIPT) be used for fetal sex determination? Perspectives and experiences of healthcare professionals.

Non-invasive prenatal testing (NIPT) can not only accurately detect early in pregnancy the presence of chromosomal abnormalities but also fetal sex. However, whether fetal sex should be reported after performing NIPT is ethically contentious. In Belgium, NIPT is practically fully reimbursed and offered to all pregnant women as a first-tier screening. In practice, fetal sex is reported upon request of the expectant parents; however, this is not stipulated in guidelines. As more countries are offering NIPT and looking to implement it in public healthcare, challenges and insights of healthcare professionals working in Belgium can be of value for others. We assessed healthcare professionals' experiences with and perspectives on sex determination and reporting following NIPT in Belgium by conducting a semi-structured interview study. We interviewed 30 professionals involved in prenatal screening. While overall healthcare professionals did not consider reporting fetal sex to be an issue if the expectant parents want to know, some consider the reporting of a non-medical trait like fetal sex problematic when it is reimbursed or if it could lead to sex-selective termination of pregnancy. Moreover, the strong desire of expectant parents to know fetal sex risks compromising informed decision-making about NIPT. In this way, fetal sex may distract from the primary aim of NIPT as a test for medical conditions. Improving pre-test counseling both in terms of quality and availability may help overcome some of these issues.

The impact of implicit and explicit bias about disabilities on parent experiences and information provided during prenatal screening and testing.

BACKGROUND: Prenatal screening technology has consistently raised concerns regarding the conversations and information provided about disabilities, particularly given that research shows trauma related to negative prenatal screening and diagnosis experiences among parents of children with Down syndrome.1 OBJECTIVE: To determine what information obstetric medical providers (OB/MFMs) are most and least likely to provide when delivering prenatal screening/testing results about Down syndrome (DS), the subsequent impact of bias on prenatal screening experiences, and how these issues can be addressed through training, resources, and professional guidelines. METHODS: Online surveys were distributed to parents of children with DS born between 2016 and 2021 via local DS organizations and the national DS Diagnosis Network (April 2020-December 2021). RESULTS: Of the 242 parents who completed the survey, a majority indicated that OB/MFMs were most likely to discuss medical issues and reproductive options while less than 40% reported that OB/MFMs discussed psychosocial outcomes, supports, and services. Respondents reported that the 61.3% of OB/MFMs who delivered the diagnosis as bad news or said "I'm sorry" were significantly less likely than their counterparts to provide information about life outcomes, supports and services, condition-specific resources, or more comprehensive prenatal care. Qualitative responses about screening/diagnosis experiences provided further context about the impact of implicit and explicit bias on the provision of accurate, up-to-date information. CONCLUSION: To meet information needs during prenatal screening, OB/MFMs need access to accurate, balanced, and up-to-date information about disabilities and more training on disability cultural competency and how to deliver prenatal screening/testing results without implicit or explicit bias.

The implementation and effect evaluation of AIDET standard communication health education mode under the King theory of goal attainment: A randomized control study.

BACKGROUND: This research addresses inadequate understanding of interventional prenatal diagnosis, preoperative anxiety psychological problems in pregnant women undergoing interventional prenatal diagnosis, proposing a health education mode combined AIDET standard communication and King's theory of goal attainment approach to potentially improve health education outcomes, anxiety psychological problems, and patient satisfaction. METHODS: A convenient sampling method was used to select a total of 300 pregnant women who were ready to undergo interventional prenatal diagnosis. They were randomly divided into a implementation group and a control group, with 150 pregnant women in each group. The control group used the communication mode of the traditional process of nurse-patient communication. The implementation group used the AIDET standard communication health education model under the King theory of goal attainment in the process of nurse-patient communication and the interventional prenatal diagnosis health education content questionnaire, the pregnant women's satisfaction questionnaire, state anxiety scale, and disease uncertainty scale were used for evaluation. RESULTS: The results of the interventional prenatal diagnosis health education questionnaire, the results of pregnant women's anxiety, the results of pregnant women's disease uncertainty, the results of pregnant women's satisfaction, the implementation group all were better than the control group (P < .05). CONCLUSION: Using the AIDET standard communication health education model under the King theory of goal attainment in nurse-patient communication is conducive to the rapid establishment of a harmonious and trusting nurse-patient relationship between pregnant women and nurses, helping pregnant women and nurses jointly promote the establishment and implementation of health education goals, helping to improve pregnant women's acceptance of information related to interventional prenatal diagnosis, health education and the procedure of walking on the day of surgery. It helps enhance the effectiveness of health education and satisfaction, reducing pregnant women's uncertainty about the disease, their unfamiliarity with the surgery environment and surgery procedure, and their preoperative anxiety.

Women's experiences with non-invasive prenatal testing in Switzerland: a qualitative analysis.

BACKGROUND: Prenatal genetic testing, in particular non-invasive prenatal testing (NIPT), as well as screening for risks associated with pregnancy, and counseling, play pivotal roles in reproductive healthcare, offering valuable information about the health of the fetus to expectant parents. This study aims to delve into the perspectives and experiences of women considering genetic testing and screening during pregnancy, focusing on their decision-making processes and the implications for informed consent. METHODS: A nationwide qualitative study was conducted in Switzerland, involving in-depth interviews with women who were 1 to 2 years post-partum, covered by basic compulsory Swiss insurance, including women with a migration background. Thematic analysis was employed to identify key themes and patterns in the data. RESULTS: The findings underscore the significance of effective communication during prenatal counseling, suggesting that healthcare providers could not only convey technical information but also support women in their decision-making processes. Women need comprehensive information about genetic testing and its implications, as well as the reasons for screening during pregnancy, as there might be a need to bridge knowledge gaps and clarify misconceptions. Furthermore, the study highlights the multifaceted nature of decision-making, with women considering factors such as uncertainty, values, emotional responses, and societal support systems. The concept of acceptance emerged as a crucial theme, with some women expressing their readiness to love and accept their child, regardless of genetic anomalies or disabilities. CONCLUSION: This study offers valuable insights into the perspectives and needs of women regarding prenatal genetic testing, screening, and counseling in Switzerland. It underscores the importance of enhancing the clinical interaction and informed consent process by providing comprehensive information, addressing misconceptions, and supporting women in decision-making about pregnancy management and the management of the child's health, following prenatal genetic testing, including NIPT. These findings can inform healthcare providers and policymakers in improving the quality of prenatal counseling, ensuring informed consent, and supporting women in making well-informed and meaningful decisions about genetic testing, and on the use of screening during pregnancy.

Genetic counseling for fetal sex prediction by NIPT: Challenges and opportunities.

Non-invasive prenatal testing (NIPT) has grown in ubiquity in the last decade and is now endorsed by Society for Maternal Fetal Medicine and American College of Obstetricians and Gynecologists as a screening tool for aneuploidy in all patients. Past studies have demonstrated a tendency among obstetrics patients to focus on the ability of NIPT to predict fetal sex chromosomes; however, data on the experiences of genetic counselors (GCs) counseling on NIPT and fetal sex prediction are limited. This mixed-methods study aimed to explore how GCs counsel about NIPT and fetal sex prediction, as well as the use of gender-inclusive language in this setting. A 36-item survey with multiple choice, Likert scale, and open-ended questions was distributed to GCs who currently offer NIPT to patients. Quantitative data were analyzed using R and qualitative data were manually analyzed and coded via inductive content analysis. A total of 147 individuals completed at least some portion of the survey. A majority of participants (68.5%) reported frequent interchangeable use of the terms 'sex' and 'gender' by patients. A majority (72.9%) of participants reported that they rarely or never discuss the difference between these terms in sessions (Spearman's rho = 0.17, p = 0.052). Seventy-five respondents (59.5%) indicated that they had taken continuing education courses on inclusive clinical practices for trans and gender-diverse (TGD) patients. Several themes arose from free responses; the most frequently identified themes were the need for thorough pretest counseling that properly describes the scope of NIPT and the challenge of discrepant pretest counseling by other healthcare providers. Results from our research identified challenges and misconceptions GCs face when offering NIPT and various tactics implemented to mitigate these. Our study highlighted the need for the standardization of pretest counseling regarding NIPT, additional guidance from professional organizations, and continuing education focused on gender-inclusive language and clinical practices.

What knowledge is required for an informed choice related to non-invasive prenatal screening?

Non-invasive prenatal screening (NIPS) using cell-free DNA is a screening test for fetal aneuploidy offered by a variety of prenatal healthcare providers. Guidelines for genetic screening consistently recommend that providers facilitate informed choices, which have been associated with better psychological and clinical outcomes than uninformed choices. The multidimensional measure of informed choice (MMIC) is a widely used and theory-based measure that combines knowledge, values, and behavior to classify decisions as either informed or uniformed. We implemented a previously validated version of the MMIC for women offered NIPS to describe the choices made by women receiving prenatal care at the Vanderbilt University Medical Center. The survey included the Ottawa Decisional Conflict scale, an outcome measure used for validation of choice categorization. We found that most women (87%) made an informed choice about NIPS. Of the women categorized as uninformed, 67% had insufficient knowledge, and 33% had an attitude discordant with their decision. The vast majority of respondents (92.5%) underwent NIPS and had a positive attitude toward screening (94.3%). Ethnicity (p = 0.04) and education (p = 0.01) were found to be significantly associated with informed choice. Decisional conflict was extremely low among all participants, with only 5.6% of all participants demonstrating any form of decisional conflict, and all being categorized as having made an informed choice. This study suggests that pre-test counseling by a genetic counselor results in high rates of informed choice and low-decisional conflict amongst women offered NIPS by genetic counselors, though more research is required to determine if rates of informed choice remain high when NIPS is offered by other prenatal providers.

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.

Reproductive deliberation: Supporting autonomous decision making in prenatal genetic counseling.

As both the scope and popularity of non-invasive prenatal testing (NIPT) have expanded, debate has emerged about the extent to which this test enhances or undermines reproductive autonomy. Genetic counseling is crucial to support autonomy in the context of making complex and value-laden decisions about reproductive care following high-chance results from NIPT. Two models of post-test prenatal genetic counseling have been proposed; the first of these, non-directive counseling, is the predominant model, while shared decision making is an alternative model deriving from patient care for chronic conditions. In this paper, we argue that neither of these approaches is adequate for counseling after NIPT to support reproductive autonomy. Instead, then, we propose an alternative approach that we call reproductive deliberation. This approach to prenatal genetic counseling simultaneously recognizes the relationality of the counseling encounter and supports the decision making capacity and decisional responsibility of the pregnant person.

Women's worries about prenatal screening tests suspected of fetal anomalies: a qualitative study.

BACKGROUND: Pregnant women with suspected fetal anomalies experience a great deal of stress following prenatal screening tests. The present study aimed to investigate women's worries about prenatal screening tests suspected of fetal anomalies. METHODS: Through the use of qualitative content analysis, the reports of women whose prenatal screening tests were suspected of fetal anomalies were analyzed and the results were interpreted. The participants were selected from four public and private maternity care clinics of Babol, Iran, from December 2021 to January 2022, using targeted convenience sampling. Data were collected from 20 women aged 24 to 41 years old, who underwent prenatal screening tests and were suspected of fetal anomalies, using semi-structured face-to-face interviews. RESULTS: The four main themes included the "causes of worries" (with sub-themes of challenge with spouse and relatives, medical diagnosis processes, previous unpleasant experiences, physical and mental problems, financial worries, and misinformation), "anxiety-coping styles" (with cognitive emotion-oriented, behavioral emotion-oriented, and problem-oriented sub-themes), "reactions to a possible diagnosis of anomaly" (with three sub-themes, namely concealment, extreme fear and worry, and denial), and "attribution of the cause of the anomaly" (with sub-themes of consanguine marriage, evil eyes, tendency to have a baby of a particular gender, a history of anomalies in the previous child, the spouse's medical illness, unplanned pregnancy, and high maternal anxiety). CONCLUSION: Women with suspected fetal anomalies experience a great deal of stress, the most important reason for which is the "physician's uncertainty". "Sharing worries with relatives" was the most common style of coping with worries. Establishing emotional support and empathetic communication between midwives and physicians with pregnant women suspected of fetal anomalies were important ways to reduce their worries.

Women's Concerns and Experiences of Fetal Anomaly Screening Process: A Qualitative Study.

Background: Advanced technologies in antenatal screening provide complex and accurate information about the fetus that allows for early intervention, but it increases pregnant women's concerns about fetal health. This study aimed to investigate the concerns and experiences of Iranian pregnant women in the fetal anomaly screening process. Methods: This qualitative study was performed from September 2018 to June 2019 in Tehran, Iran. Twenty pregnant women who referred to prenatal care clinics, four specialists, and two midwives took part in this study. The sampling was done purposefully until data saturation. Qualitative interviews were analyzed using the content analysis approach and Graneheim and Lundman's method. The MAXQDA 10 was used for data management. Results: The pregnant women who participated in the study were 22-40 years old. The following 4 themes were obtained from the analysis: the challenge of deciding to perform the tests, bitter pregnancy experience, challenges of facing an abortion, and unmet needs of pregnant women by the health system. Conclusion: The findings indicate that pregnant women need real information and support. Designing and implementing interventions that reduce the psychological impact of performing fetal anomaly screening tests can highlight the potential benefits for pregnant women's health.

Content Analysis of Social Support, and Disease Framing of Klinefelter Syndrome and Down Syndrome: Social Support, Framing and Decision Tendencies.

The Internet plays a crucial role for people searching for health information. In the context of parents faced with a prenatal diagnosis of a chromosomal abnormality, Internet-based resources convey critical information and attitudes that bear on the process of healthcare decision-making. In this study, we collected and analyzed 268 websites for Klinefelter syndrome and Down syndrome, which are two of the most common genetic conditions marked by an abnormal number of chromosomes. While these two syndromes are quite different in terms of their associated symptoms and health consequences, they are commonly screened for, have similar incidence rates, and parents who are presented with prenatal diagnosis of the two conditions terminate pregnancies at similar rates. The study found substantial differences in framings of information, and social support available online for Klinefelter syndrome and Down syndrome. This study's key finding supports the argument that social support and framing are important mechanisms that mediate online information and perceptions of information utility, hope and decision tendency. The study extends theories and literature related to information framing in a mass media context, social support, and cognitive information processing and applies to investigating online health information, social support and perceptions.

Impacto psicológico del programa de diagnóstico y tratamiento fetal en las madres / Psychological impact of the fetal diagnosis and treatment program on mothers

El programa de Diagnóstico y Tratamiento Fetal (PDTF) coordina y optimiza el cuidado prenatal y perinatal de pacientes que consultan por alguna anomalía congénita severa (ACS). El servicio de Salud Mental forma parte del equipo interdisciplinario. Objetivo:Evaluar mediante indicadores específicos (estrés en torno a la internación neonatal, depresión, ansiedad, afrontamiento y apoyo social percibido) el impacto psicológico del PDTF en madres de recién nacidos (RN) con ACS internados en Neonatología, comparándolas con un grupo de pacientes con las mismas ACS ingresados por derivación posnatal habitual (DP). Diseño: transversal, comparativo. Población: madres de niños y niñas con ACS internados en neonatología, que cumplan con los criterios de admisión, con consentimiento. Instrumentos de medición: Cuestionario de MOS de Apoyo Social Percibido, Inventario de Depresión de Beck (BDI), Inventario de ansiedad estado/rasgo (STAI), Escala de estrés parental: Unidad de cuidados intensivos (PSS: NICU), Inventario de respuestas de afrontamiento de MOOS (CRI-A). Los datos se analizaron con REDCap y stata 12.0. Resultados: muestra constituida por 83 madres. El 61% tuvo seguimiento en PDTF. No se encontraron diferencias significativas en la edad (M:24a), nivel educativo(55% estudios secundarios o superiores), situación de pobreza (25%), situación conyugal(89% en pareja estable), presencia de red de apoyo(95%). En cuanto a su procedencia el 62% de las madres del PDTF y el 81% de DP provenían de CABA y el Conurbano. Tenían diagnóstico prenatal solo el 31% de las DP. Los diagnósticos más prevalentes de los niños del PDTF fueron gastroquisis (37%) y hernia diafragmática (30%), en los niños con DP cardiopatía (22%) y gastroquisis (19%). Las madres del PDTF presentaron menores niveles de depresión que las de DP. Estas últimas fueron quienes aumentaron en mayor medida su estado de ansiedad con respecto a su rasgo habitual. El apoyo social percibido fue alto en ambos grupos al igual que el afrontamiento por aproximación. Conclusiones: Las intervenciones del programa tuvieron un efecto positivo sobre la ansiedad y la depresión en las madres durante la internación neonatal. (AU)

The Fetal Diagnosis and Treatment Program ( FDTP) coordinates and optimizes prenatal and perinatal care of patients who consult for severe congenital anomalies (SCA). The Mental Health Department is part of the interdisciplinary team. Objective: To evaluate by means of specific indicators (stress around Neonatal Intensive Care Unit (NICU) admission, depression, anxiety, coping, and perceived social support) the psychological impact of the FDTP on mothers of newborns (NB) with SCA admitted to the NICU compared to a group of patients with the same SCA admitted through regular postnatal referral (PR). Design: cross-sectional, comparative study. Population: mothers of children with SCA admitted to the NICU who met the admission criteria and who signed informed consent. Measurement instruments: MOS Social Support Survey, Beck Depression Inventory (BDI), StateTrait Anxiety Inventory (STAI), Parental Stressor Scale: Neonatal Intensive Care Unit (PSS: NICU), Moos Coping Responses Inventory (CRI-A). Data were analyzed using REDCap and Stata 12.0. Results: the sample consisted of 83 mothers. Sixty-one percent were followed up by the FDTP. No significant differences were found in age (M:24y), educational level (55% secondary or higher education), poverty status (25%), marital status (89% in stable relationship), or presence of support network (95%). Regarding their origin, 62% of the FDTP mothers and 81% of the PR mothers came from the city of Buenos Aires and Greater Buenos Aires. Only 31% of the PR children had a prenatal diagnosis. The most prevalent diagnoses in the FDTP children were gastroschisis (37%) and diaphragmatic hernia (30%), and in the PR children, cardiopathy (22%) and gastroschisis (19%). FDTP mothers presented with lower levels of depression than PR mothers. The latter were those who increased their state of anxiety to a greater extent compared to their usual trait. Perceived social support was high in both groups, as was coping by proxy. Conclusions: Program interventions had a positive effect on anxiety and depression in mothers during NICU admission (AU)

Clinician views and experiences of non-invasive prenatal genetic screening tests in Australia.

BACKGROUND: Non-invasive prenatal screening (NIPS) is being increasingly used by expectant parents. Much provision of this test in Australia is occurring in clinical settings where specialised genetic counselling is unavailable, such as general practice. Potential psychosocial consequences from this kind of prenatal genetic screening remain largely unexplored. AIMS: To explore clinicians' experiences with NIPS for aneuploidy, their perspectives of the benefits and harms of NIPS, clinicians' information needs, and their perceptions of the needs of expectant parents. MATERIALS AND METHODS: Qualitative, semi-structured interviews with 17 health professionals (clinical geneticists, obstetricians, genetic counsellors and general practitioners) who request and counsel for NIPS in Australian hospital and private practice settings, conducted between June 2019 and February 2020. RESULTS: Five themes were identified relating to clinicians' perceptions and experiences of NIPS in their practice: perceived benefits of NIPS, perceived harms of NIPS (with two subthemes: clinical harms and psychosocial harms), financial and equity-related concerns, counselling as a protective buffer against perceived harms, and clinicians' unmet education needs. While clinicians view NIPS as a useful and high-quality screening test, especially for detection of common trisomies, many participants had concerns about how NIPS has been implemented in practice, particularly the quality (and often absence) of pre-/post-test counselling and the routinisation of testing for sex chromosome aneuploidies, microdeletion and microduplication syndromes. CONCLUSION: These findings support the need for targeted clinician training around NIPS, and for a shared decision-making approach to support expectant parents' autonomous decisions about NIPS.

Controversies in implementing non-invasive prenatal testing in a public antenatal care program.

Women's autonomy and an inclusive society for all individuals are highly valued in Norway. The Norwegian Biotechnology Act changed in 2020 allowing first-trimester screening and cell-free DNA for common trisomies to all pregnant women. However, implementing non-invasive prenatal testing (NIPT) in a public antenatal care program is difficult, because many patients, politicians, and medical professionals do not consider trisomy 21 a severe medical disease. Screening for trisomies at an early gestation might inevitably lead to an increase in pregnancy terminations and making cost-benefit calculations is ethically challenging. Moreover, offering NIPT to all pregnant women is debatable because of the lower prevalence of fetal trisomies in younger women. Therefore, appropriate genetic pre-test counseling is essential. Furthermore, organizing the service between private institutions and public hospitals poses another debate and challenges both quality and equal access to health services for women across the country.

Changes in maternal cortisol, cortisol binding globulin and cortisone levels following diagnosis of fetal anomaly.

The diagnosis of fetal anomaly can be a major stressor to the expectant mother. Current understanding of the relationship between psychological stress and cortisol in pregnancy is limited. This study examined: (1) differences in the ratio of serum cortisol to cortisol binding globulin (SC/CBG) and cortisone levels among women with and without a diagnosis of fetal anomaly, (2) the association between self-reported stress and cortisol from mid to late pregnancy, and (3) the agreement between two different techniques for analyzing cortisol: liquid chromatography-tandem mass spectrometry (LC-MS/MS) and radioimmunoassay (RIA). Thirty-six pregnant women with a diagnosis of fetal anomaly (study group) and 101 women with healthy pregnancies (comparison group) provided blood samples and completed self-report questionnaires at gestational weeks 18-24 (T1) and 30 (T2). In the comparison group, mean SC/CBG increased from 0.341 nmol/L at T1 to 0.415 at T2 (p < .001), whereas in the study group there was no change (0.342 nmol/L at T1, 0.343 at T2). There was no difference in cortisone levels between the groups at either timepoints. There was a negative association between both depression and traumatic stress at T1, and SC/CBG at T2 (p < .05). There was no association between general distress and SC/CBG. The two methods for analyzing cortisol gave similar results, but with LC-MS/MS showing a lower detection limit than RIA. Increased cortisol with advancing gestational age is expected, thus these findings indicate that under certain conditions of severe stress there may be a suppression of maternal cortisol increase from mid to late gestation. The discrepancy does not seem to be due to differences in the metabolization of cortisol, as indicated by the similar levels of cortisone. Further research is needed in order to understand the potential underlying mechanisms limiting the expression of cortisol in response to certain types of stress in pregnancy.

Pregnant women's experiences of non-invasive prenatal testing (NIPT) in Japan: A qualitative study.

In Japan, prenatal testing does not include a publicly insured routine health check-up for pregnant women. Hence, taking advantage of such prenatal testing procedures is still not an option for a majority of Japanese women. However, social support systems for children and adults with disabilities have been developed with the assumption that people with disabilities will continue receiving support from their family members, especially their mothers. In this study, we described pregnant women's experiences regarding noninvasive prenatal testing (NIPT) within the context of their physical experiences during the NIPT process, Japanese society, and their medical circumstances. Women with no family history of genetic diseases or fetal disabilities and who had also received negative results after the NIPT explanation were recruited. Altogether, 15 women participated in the biographical narrative interview. The data were subjected to reflexive thematic analysis and signified advanced age for pregnancy as a trigger for both the women's consideration regarding receiving NIPT and interventions from their families and social group members. Participants considered themselves as the main caretaker for the older adults and individuals with disabilities and thus were afraid of the multiple responsibilities inherent in this reality. They were also concerned about the impact on any other siblings if the baby had disabilities. In addition, participants encounter physical and mental changes during the timeframe of the NIPT processes. Hence, as their fetuses mature, the psychological bonds the women develop with them are constantly evolving, and participants with histories of miscarriages or possible miscarriages expressed concerned not only about the results of NIPT but also about the specific possibility of losing their child in any way. In conclusion, the continuous support of these women throughout the NIPT process and social efforts for the improvement of the welfare system for people with disabilities are required to utilize NIPT effectively.

Postpartum Depression Risk following Prenatal Diagnosis of Major Fetal Structural Anomalies.

OBJECTIVES: Our primary objective was to evaluate how prenatal diagnosis of a major fetal structural anomaly and resulting pregnancy outcome affected postpartum depression risk, as assessed by the Edinburgh Postnatal Depression Scale (EPDS). Secondary objectives were to review the rate of mental health follow-up and subsequent diagnosis of postpartum depression in screen-positive women. STUDY DESIGN: Singleton pregnancies with prenatal diagnosis of one or more major fetal structural anomalies were ascertained from prospectively maintained databases that included perinatal outcomes and subsequent EPDS responses from January 2010 to May 2018. EPDS scores of 13 or higher were considered positive and prompted referral for mental health follow-up, which was verified by medical record review. Statistical analyses were performed using Student's t-test, χ2, and odds ratios (ORs) with p < 0.05 considered significant. RESULTS: A total of 1,306 women had a prenatal diagnosis of one or more major fetal structural anomalies, 896 (68%) also had a postpartum EPDS screening, and 82 (9.2%) screened positive. Positive EPDS screening was more common with anomalies of multiple organ systems (16.5 vs 7.8%, p = 0.002) and aneuploidy (17.1 vs 9.3%, p = 0.02). Pregnancies complicated by fetal death, neonatal death, and termination for anomaly were significantly more likely to screen positive than those with neonatal survival to discharge (OR, 3.1 [95% confidence interval [CI], 1.6-6.2], 3.0 [95% CI, 1.5-5.8], and 4.4 [95% CI, 2.1-8.9], respectively, p ≤ 0.002). Of the 35 (43%) screen-positive women who attended follow-up appointments with mental health providers, 18 (51%) were diagnosed with a depressive disorder, accounting overall for 22% of those with a positive EPDS screen. CONCLUSION: Among women with a prenatal diagnosis of a major fetal structural anomaly, those experiencing a perinatal loss or pregnancy termination have an increased risk of positive EPDS screen result compared with who have a neonate surviving to discharge. A depressive disorder was diagnosed postpartum in 22% of these women with a positive EPDS screen. Our findings highlight the mental health needs in this vulnerable population. KEY POINTS: · Adverse pregnancy outcome increased positive EPDS screen risk among women with prenatal anomalies.. · A depressive disorder was diagnosed postpartum in 22% of such women with a positive EPDS screen.. · Our findings highlight the mental health needs in this vulnerable population..

Knowledge, attitudes, and practices of healthcare professionals working in prenatal diagnosis toward expanded non-invasive prenatal testing in China.

OBJECTIVES: To investigate the knowledge, attitudes, and practices of healthcare professionals (HCPs) working in prenatal diagnosis toward expanded non-invasive prenatal testing (NIPT) in China. METHODS: We conducted a national online survey among HCPs working in prenatal diagnosis, including specialists in prenatal diagnosis and foetal medicine, obstetricians and gynaecologists, nurses in obstetrics and gynaecology, obstetric ultrasound doctors, and technicians in prenatal diagnosis laboratories. A total of 1882 questionnaires were collected, among which 1822 questionnaires met the research criteria and were included in the analysis. RESULTS: More than 99% of all participants opted for NIPT for trisomies 21, 18, and 13. The rates of support for expanded NIPT for sex chromosome aneuploidies, rare autosomal trisomies, microdeletions and microduplications, and single-gene disorders were 93.9%, 88.6%, 89.4%, and 86.8%, respectively. Specialists in prenatal diagnosis and foetal medicine had greater knowledge but were less likely to support expanded NIPT compared to other participants. Knowledge increased with educational level, whereas support for expanded NIPT decreased with educational level. CONCLUSIONS: More than 80% of HCPs working in prenatal diagnosis in China expressed support for expanding NIPT to conditions other than common trisomies. The degree of knowledge was negatively associated with the rate of support.