Hopes expressed in birth plans by women diagnosed with fetal anomalies: a qualitative study in Japan.

BACKGROUND: Recent advances in prenatal screening and diagnosis have resulted in an increasing number of women receiving a diagnosis of fetal anomalies. In this study, we aimed to clarify the hopes for childbirth and parenting of women diagnosed with fetal anomalies and to suggest a family-centered care tailored for this situation in perinatal settings. METHODS: A descriptive qualitative study was performed. We recruited women diagnosed with fetal anomalies who were over 22 years old, beyond 22 weeks of gestation, and had scheduled pregnancy and delivery management at a tertiary perinatal medical center specializing in neonatal and pediatric care in a metropolitan area of Japan from April 2019 to December 2019. Women who were willing to participate received support from a midwife to create birth plans. Data were collected from the documented birth plans submitted by 24 women and analyzed using content analysis. RESULTS: We identified three themes of women's hopes based on the descriptions of the submitted birth plans: (1) Hopes as women who are expecting childbirth, (2) Hopes as mothers of a baby, (3) Hopes of being involved in the family needs. Several distinctive hopes were clarified in the context of the women's challenging situations. In describing their hopes, the women were neither overoptimistic or overstated their actual situations, nor caused embarrassment to the healthcare providers. The importance of supporting their involvement in baby matters in the way each family wants also emerged. However, several barriers to fulfilling the women's hopes were identified including the babies' conditions and hospital regulations against family visits or presence. CONCLUSION: All three themes identified in the study provide important insights for analyzing more deeply ways of implementing a family-centered care for women diagnosed with fetal anomalies in perinatal settings. To improve women's engagement in decision-making as a team member, women's hopes should be treated with dignity and respect, and included in the perinatal care of women with abnormal fetuses. Further research is needed to improve the inclusion of women's hopes in their care in clinical settings. TRIAL REGISTRATION: UMIN Clinical Trials Registry: UMIN000033622 (First registration date: 03/08/2018).

Implementing a Pediatric Perioperative Surgical Home Integrated Care Coordination Pathway for Laryngeal Cleft Repair.

BACKGROUND: The Pediatric Perioperative Surgical Home (PPSH) model is an integrative care model designed to provide better patient care and value by shifting focus from the patient encounter level to the overarching surgical episode of care. So far, no PPSH model has targeted a complex airway disorder. It was hypothesized that the development of a PPSH for laryngeal cleft repair would reduce the high rates of postoperative resource utilization observed in this population. METHODS: Institutional review board approval was obtained for the purpose of data collection and analysis. A multidisciplinary team of anesthesiologists, surgeons, nursing staff, information technology specialists, and finance administrators was gathered during the PPSH development phase. Standardized perioperative (preoperative, intraoperative, and postoperative) protocols were developed, with a focus on preoperative risk stratification. Patients presenting before surgery with ≥1 predefined medical comorbidity were triaged to the intensive care unit (ICU) postoperatively, while patients without severe systemic disease were triaged to a lower-acuity floor for overnight observation. The success of the PPSH protocol was defined by quality outcome and value measurements. RESULTS: The PPSH initiative included 120 patients, and the pre-PPSH period included 115 patients who underwent laryngeal cleft repair before implementation of the new process. Patients in the pre-PPSH period were reviewed and classified as ICU candidates or lower acuity floor candidates had they presented in the post-PPSH period. Among the 79 patients in the pre-PPSH period who were identified as candidates for the lower-acuity floor transfer, 70 patients (89%) were transferred to the ICU (P < .001). Retrospective analysis concluded that 143 ICU bedded days could have been avoided in the pre-PPSH group by using PPSH risk stratification. Surgery duration (P = .034) and hospital length of stay (P = .015) were found to be slightly longer in the group of pre-PPSH observation unit candidates. Rates of 30-day unplanned readmissions to the hospital were not associated with the new PPSH initiative (P = .093). No patients in either group experienced emergent postoperative intubation or other expected complications. Total hospital costs were not lower for PPSH observation unit patients as compared to pre-PPSH observation unit candidates (difference = 8%; 95% confidence interval, -7% to 23%). CONCLUSIONS: A well-defined preoperative screening protocol for patients undergoing laryngeal cleft repair can reduce postoperative ICU utilization without affecting patient safety. Further research is needed to see if these findings are applicable to other complex airway surgeries.

Diagnóstico de factores de riesgo asociados a defectos de pared abdominal a mujeres con descendencia afectada. Provincia Matanzas, enero 2013-enero 2016 / Diagnosis of risk factors associated to abdominal wall defects in women with affected descendants. Province of Matanzas, January 2013-January 2016

Introducción: los defectos de pared abdominal constituyen un espectro de malformaciones anatómicas estructurales de etiología diversa, con severidad y pronóstico variable. Los factores de riesgo son disímiles, muchos modificables. Objetivo: identificar los factores de riesgo asociados a defectos de pared abdominal diagnosticados prenatalmente en la provincia de Matanzas. Materiales y métodos: se realizó una investigación de corte transversal sobre los factores de riesgo en las mujeres con diagnóstico de defectos de pared abdominal en la provincia Matanzas, de enero 2013 a enero 2016, a través de una encuesta, previa prueba piloto para cálculo de confiabilidad (alfa de Cronbach) y validez (regresión lineal). Resultados: el valor de ambos coeficientes fue superior a 0.7, por lo que la encuesta fue confiable y válida. Los factores de riesgo para estos defectos más frecuentes fueron la combinación de factores ambientales, no suplementación periconcepcional de ácido fólico y exposición a sustancias químicas. La necesidad de recibir información preconcepcional de las mujeres fue alta. Conclusiones: los factores de riesgo más frecuentes fueron la combinación de factores ambientales y la no suplementación periconcepcional de ácido fólico (AU).

Introduction: the defects of the abdominal wall are a spectrum of structural anatomic malformations of diverse etiology, with variable severity and prognosis. The risk factors are dissimilar, many of them modifiable. Objective: to identify the risk factors associated to abdominal wall defects diagnosed before birth in the province of Matanzas. Materials and methods: a cross-sectional research was carried out on the risk factors in women with diagnose of defects of the abdominal wall in the province of Matanzas, from January 2013 to January 2016, through an inquiry, after a pilot test to calculate reliability (Crombach alpha), and validity (lineal regression). Results: the value of both coefficients was higher than 0.7, so the inquiry was reliable and valid. The risk factors for these more frequent defects were the combination of environmental factors, the lack of peri conceptional supplementation of folic acid and exposition to chemical substances. The necessity of receiving pre-conceptional information from the part of the women was high. Conclusions: the more frequent risk factors were the combination of environmental factors and the lack of peri conceptional supplementation of folic acid (AU).

Diagnóstico de factores de riesgo asociados a defectos de pared abdominal a mujeres con descendencia afectada. Provincia Matanzas, enero 2013-enero 2016 / Diagnosis of risk factors associated to abdominal wall defects in women with affected descendants. Province of Matanzas, January 2013-January 2016

Introducción: los defectos de pared abdominal constituyen un espectro de malformaciones anatómicas estructurales de etiología diversa, con severidad y pronóstico variable. Los factores de riesgo son disímiles, muchos modificables. Objetivo: identificar los factores de riesgo asociados a defectos de pared abdominal diagnosticados prenatalmente en la provincia de Matanzas. Materiales y métodos: se realizó una investigación de corte transversal sobre los factores de riesgo en las mujeres con diagnóstico de defectos de pared abdominal en la provincia Matanzas, de enero 2013 a enero 2016, a través de una encuesta, previa prueba piloto para cálculo de confiabilidad (alfa de Cronbach) y validez (regresión lineal). Resultados: el valor de ambos coeficientes fue superior a 0.7, por lo que la encuesta fue confiable y válida. Los factores de riesgo para estos defectos más frecuentes fueron la combinación de factores ambientales, no suplementación periconcepcional de ácido fólico y exposición a sustancias químicas. La necesidad de recibir información preconcepcional de las mujeres fue alta. Conclusiones: los factores de riesgo más frecuentes fueron la combinación de factores ambientales y la no suplementación periconcepcional de ácido fólico (AU).

Introduction: the defects of the abdominal wall are a spectrum of structural anatomic malformations of diverse etiology, with variable severity and prognosis. The risk factors are dissimilar, many of them modifiable. Objective: to identify the risk factors associated to abdominal wall defects diagnosed before birth in the province of Matanzas. Materials and methods: a cross-sectional research was carried out on the risk factors in women with diagnose of defects of the abdominal wall in the province of Matanzas, from January 2013 to January 2016, through an inquiry, after a pilot test to calculate reliability (Crombach alpha), and validity (lineal regression). Results: the value of both coefficients was higher than 0.7, so the inquiry was reliable and valid. The risk factors for these more frequent defects were the combination of environmental factors, the lack of peri conceptional supplementation of folic acid and exposition to chemical substances. The necessity of receiving pre-conceptional information from the part of the women was high. Conclusions: the more frequent risk factors were the combination of environmental factors and the lack of peri conceptional supplementation of folic acid (AU).

Trends in congenital anomalies in Europe from 1980 to 2012.

BACKGROUND: Surveillance of congenital anomalies is important to identify potential teratogens. METHODS: This study analysed the prevalence of 61 congenital anomaly subgroups (excluding chromosomal) in 25 population-based EUROCAT registries (1980-2012). Live births, fetal deaths and terminations of pregnancy for fetal anomaly were analysed with multilevel random-effects Poisson regression models. RESULTS: Seventeen anomaly subgroups had statistically significant trends from 2003-2012; 12 increasing and 5 decreasing. CONCLUSIONS: The annual increasing prevalence of severe congenital heart defects, single ventricle, atrioventricular septal defects and tetralogy of Fallot of 1.4% (95% CI: 0.7% to 2.0%), 4.6% (1.0% to 8.2%), 3.4% (1.3% to 5.5%) and 4.1% (2.4% to 5.7%) respectively may reflect increases in maternal obesity and diabetes (known risk factors). The increased prevalence of cystic adenomatous malformation of the lung [6.5% (3.5% to 9.4%)] and decreased prevalence of limb reduction defects [-2.8% (-4.2% to -1.5%)] are unexplained. For renal dysplasia and maternal infections, increasing trends may be explained by increased screening, and deceases in patent ductus arteriosus at term and increases in craniosynostosis, by improved follow up period after birth and improved diagnosis. For oesophageal atresia, duodenal atresia/stenosis and ano-rectal atresia/stenosis recent changes in prevalence appeared incidental when compared with larger long term fluctuations. For microcephaly and congenital hydronephrosis trends could not be interpreted due to discrepancies in diagnostic criteria. The trends for club foot and syndactyly disappeared once registries with disparate results were excluded. No decrease in neural tube defects was detected, despite efforts at prevention through folic acid supplementation.

Etiología y evolución de recién nacidos con hipotiroidismo congénito y glándula eutópica / Etiology and evolution of newborns with congenital hypothyroidism and eutopic thyroid gland

RESUMEN Objetivos Analizar las características clínicas, bioquímicas, estudios complementarios, hallazgos moleculares y la prevalencia de glándula eutópica en neonatos con HC pertenecientes al Programa Provincial de Pesquisa Neonatal de Córdoba, Argentina, entre 1996 y 2015. Analizar la evolución de los pacientes que reunieron criterios para una reevaluación. Pacientes y métodos Se analizaron retrospectivamente las historias clínicas de 237 pacientes detectados por pesquisa neonatal en la provincia de Córdoba, Argentina, entre 1996-2015 con una incidencia promedio de 1/2146 pesquisados. Presentaron glándula eutópica 81 pacientes (34%) F35/M46; se excluyeron 10 con síndromes genéticos asociados. Se analizaron los niveles de: TSH, T4T, T4L, T3, TPOAb / TGAb y Tiroglobulina (ECLIA -ROCHE) (VR: >15 días: 6-83 ng/ ml; <15 días: 29-173 ng/ml), ecografía y centellografía de cuello con Tc-99m. El valor de corte de TSH sérica adoptado para la confirmación diagnóstica fue de ≥10 mUI/ml. Se realizaron estudios de biología molecular en casos seleccionados. Se reevaluaron niños mayores de 3 años, sin bocio, con valores normales de Tiroglobulina y sin requerimiento de incrementos en la dosis de LT4. Resultados: La prevalencia de HC y Tiroides Eutópica se mantuvo constante. El 50% de los pacientes (36/71) mostraron hiperplasia glandular tiroidea. El 84% (n: 60 de 71) presentó niveles de TSH sérica ≥20 uUI/ml (20-1186) y el 75% (n: 53 de 71) >40 uUI/ml (40-1186). TGAb and TPOAb fueron positivos en un niño. La determinación de TG fue normal en el 29% (21/71) de los casos, elevada en el 56% (39/71) y baja en el 14% (10/71). Los estudios de biología molecular resultaron diagnósticos en 26 pacientes de 18 familias, demostrándose mutaciones en los genes de: TPO: 9 pacientes, TG: 12 pacientes, NIS: 2 pacientes, DUOX2: 2 pacientes y TRβ: 1 paciente. Se encontraron 11 nuevas mutaciones: tres en TPO, cinco en TG, dos en NIS y una en DUOX2. Se informaron anomalías congénitas en el 11% (8/71) de los pacientes. Se reevaluó el 11% (8/71) de los niños, resultando: HC transitorio n: 5, permanente n: 2 y una niña con Síndrome de Resistencia a las Hormonas Tiroideas. La prevalencia de lactantes con HC y glándula eutópica se mantuvo constante a lo largo de 19 años del Programa. Conclusiones Nuestros estudios demuestran que la prevalencia de Hipotiroidismo Congénito con glándula eutópica se mantuvo estable en los períodos analizados. Este grupo de pacientes se caracterizó predominantemente por presentar HC de carácter permanente acompañado por fenotipos de moderada a severa intensidad. En el futuro deberá profundizarse el conocimiento respecto a la influencia de factores medioambientales, como posibles agentes de riesgo asociados a la génesis de Hipotiroidismo Congénito.

abstract Objectives To describe clinical, biochemical characteristics and complementary studies to diagnosis, molecular findings and the prevalence of eutopic gland in newborn with CH detected through our neonatal screening program in Córdoba, Argentina, between 1996 and 2015. To analyze the evolution of the patients who met criteria for re-evaluation. Patients and methods We retrospectively analysed medical records of 237 patients with CH detected by neonatal screening in Córdoba, Argentina, from 1996 to 2015 with an average incidence of 1/2146 researched. 81 patients (34%) F35/M46 had eutopic thyroid gland; 10 patients with associated genetic syndromes were excluded. TT4, FT4, T3, TSH, TPOAb, TGAb and Thyroglobulin (VR: >15 days: 6-83 ng/ml; <15 days: 29-173 ng/ml) (ECLIA ROCHE), thyroid ultrasonography and 99Tc scan were assessed. The serum TSH cutoff value adopted for diagnostic confirmation was ≥10 mIU/ml. Molecular biology studies were performed in selected cases. Those who had no goiter, with normal thyroglobulin, and had not required increases in L-T4 dose underwent re-evaluation after the age of 3 years. Results The prevalence of HC and thyroid Eutopic remained constant. 50% of the patients (36/71) showed glandular hyperplasia. In 84% (60/71) presented serum TSH levels ≥20 uUI/ml (20-1186) and in 75% (n: 53 of 71) levels >40 uUI/ml (40-1186). TGAb and TPOAb were positive only in one baby. TG levels were: normal in 29% (21/71) of the cases, elevated in 56% (39/71) and low in 14% (10/71). Gene mutations were found in 26 patients from 18 families: TPO: 9 patients, TG: 12 patients, NIS: 2 patients, DUOX2: 2 patients y TRβ: 1 patient. Eleven new mutations were found: three in TPO, five in TG, two in NIS and one in DUOX2. Congenital anomalies were reported in 11% (8/71) patients. The 11% (8/71) of children were re-evaluated resulting in: 5 Transient CH, 2 Permanent CH and 1 with Resistance to Thyroid Hormones. The prevalence of infants with CH and eutopic gland remained constant along 19 years of the Program. Conclusions Our studies show that the prevalence of congenital hypothyroidism with eutopic gland remained stable in the periods analyzed. This group of patients was predominantly characterized by permanent CH accompanied by moderate to severe phenotypes. In the future, knowledge about the influence of environmental factors, as possible risk agents associated with the genesis of Congenital Hypothyroidism, should be deepened.

Pediatric Rehabilitation Medicine (PRM): An Integrative Approach to Identifying and Treating Congenital and Childhood Disabilities.

[Full article available at http://rimed.org/rimedicaljournal-2017-11.asp].

The emotional process from diagnosis to birth following a prenatal diagnosis of fetal anomaly: A qualitative study of messages in online discussion boards.

OBJECTIVE: to explore written statements found in online discussion boards where parents currently expecting, or with previous experience of expecting, a child with a prenatally diagnosed congenital anomaly communicate about their emotional process from diagnosis to birth. DESIGN: cross-sectional qualitative study of messages in public online discussion boards. SETTING: Swedish public discussion boards about reproductive subjects. SAMPLE: ten pregnant women and eight parents (of children with prenatal diagnoses) who had written 852 messages in five threads in Swedish online discussion boards identified via systematic searches. MEASUREMENTS AND FINDINGS: three phases were identified in the process of moving from the diagnosis to the birth: shock, existential crisis, and life remodeling. The people posting message ('posters') moved from initial shock to existential crisis and, lastly, a phase of remodeling life later in the pregnancy. During the pregnancy, considerable worries about both antenatal and postnatal aspects were expressed. To cope with their situation, the posters distanced themselves from the diagnoses, vented their feelings, sought control, and obtained practical support from friends and relatives. KEY CONCLUSIONS: expectant parents faced with a prenatal diagnosis move from initial shock to a phase of life remodeling and acceptance. Burdened with considerable worries, expectant parents cope with their situation through informational, emotional, and instrumental support from health professionals, family, friends, and peers. IMPLICATIONS FOR PRACTICE: health professionals should make sure that expectant parents feel involved in planning their children's postnatal care, that they are offered sufficient information, and that they have access to emotional and instrumental support structures.

Non-communicable diseases among children in Ghana: health and social concerns of parent/caregivers.

BACKGROUND: Globally, there is a progressive rise in the burden of non-communicable diseases (NCDs). This paper examined the health and social concerns of parents/caregivers on in-patient care for children with NCDs in Ghana. METHODS: This was a cross-sectional study in three large health facilities in Ghana (the largest in the South, the largest in the North and the largest in the Eastern part of Ghana. Data was collected with a structured questionnaire among 225 caregivers (≥18 years) of 149 children with NCDs in health facilities in the three regions. Data was analyzed with simple descriptive statistics. RESULTS: Most caregivers 169(75.0%) were women, relatively young (median age 35years), mostly married and resided in urban areas. Sickle cell disease was the commonest NCD among the children. All 169(75.0%) caregivers believed children suffer NCDs because of sins of parents/ancestors, 29(12.9%) believed herbalists/spiritualists have insights into treating NCDs and 73(32.6%) have previously used herbs/traditional medicine for child's illness. NCD in children was a burden and caused financial difficulties for families. Most caregivers (>96.0%) indicated NCDs in children should be included in national health insurance benefits package and a comprehensive national NCD policy is needed. CONCLUSION: Absence of national NCD policy for children is a major challenge. The burden of care rests mainly on the parents/caregivers. A national strategic intervention on the importance of awareness generation on the causes, risk factors, prevention and treatment of NCDs for families and communities is essential. Government support through national health and social policy initiatives are essential.

[Epilepsy and Pregnancy]. / Epilepsie und Schwangerschaft.

BACKGROUND: On average, female patients with epilepsy have 0.9 children, which is below the birth rate of healthy women. One reason is insufficient counselling. OBJECTIVES: To summarize the current data relevant to counselling pregnant women with epilepsy. MATERIALS AND METHODS: Discussion of research and recommendations concerning seizure control during pregnancy, pregnancy and birth complications, congenital malformations, and breastfeeding. RESULTS: Changes in seizure frequency during pregnancy are variable and partly due to changes in the serum concentrations of antiepileptic drugs. Epilepsy patients have a slightly higher risk for some pregnancy and birth complications including spontaneous abortion, pre- and postpartum bleeding, induction of labour, and caesarean section. In particular, the administration of valproic acid can lead to congenital malformations and a lower IQ of the child. Folic acid seems to have a protective effect. Data concerning breastfeeding are insufficient. CONCLUSIONS: If possible, epilepsy patients should be treated with a low-dose monotherapy during pregnancy and valproic acid should be avoided. Treatment with lamotrigine requires frequent control of serum concentration. Supplementary folic acid (5 mg daily dose) is recommended. Epilepsy is not an indication for a caesarean section.

Clients' psychosocial communication and midwives' verbal and nonverbal communication during prenatal counseling for anomaly screening.

OBJECTIVES: This study focuses on facilitation of clients' psychosocial communication during prenatal counseling for fetal anomaly screening. We assessed how psychosocial communication by clients is related to midwives' psychosocial and affective communication, client-directed gaze and counseling duration. METHODS: During 184 videotaped prenatal counseling consultations with 20 Dutch midwives, verbal psychosocial and affective behavior was measured by the Roter Interaction Analysis System (RIAS). We rated the duration of client-directed gaze. We performed multilevel analyses to assess the relation between clients' psychosocial communication and midwives' psychosocial and affective communication, client-directed gaze and counseling duration. RESULTS: Clients' psychosocial communication was higher if midwives' asked more psychosocial questions and showed more affective behavior (ß=0.90; CI: 0.45-1.35; p<0.00 and ß=1.32; CI: 0.18-2.47; p=0.025, respectively). Clients "psychosocial communication was not related to midwives" client-directed gaze. Additionally, psychosocial communication by clients was directly, positively related to the counseling duration (ß=0.59; CI: 0.20-099; p=0.004). CONCLUSIONS: In contrast with our expectations, midwives' client-directed gaze was not related with psychosocial communication of clients. PRACTICE IMPLICATIONS: In addition to asking psychosocial questions, our study shows that midwives' affective behavior and counseling duration is likely to encourage client's psychosocial communication, known to be especially important for facilitating decision-making.

Midwives' perceptions of communication during videotaped counseling for prenatal anomaly tests: how do they relate to clients' perceptions and independent observations?

OBJECTIVE: This study aimed to provide insight into Dutch midwives' self-evaluation of prenatal counseling for anomaly screening in real life practice and, the degree of congruence of midwives' self-assessments with clients' perceptions and with observed performance. METHODS: Counseling sessions were videotaped. We used the QUOTE(prenatal) questionnaire to have each midwife (N = 20) and her client (N = 240) rate the prenatal counseling that they had together. We used an adapted version of the RIAS video-coding system to assess actual counseling during videotaped prenatal counseling (N = 240). RESULTS: Midwives perceived the following functions of counseling performed well: 100% of Client-Counselor relation (CCR); 80% of Health Education (HE); and 17% Decision-Making Support (DMS). Congruence on HE of midwives with observers and with clients was ≥ 75%; congruence on DMS was higher between midwives and observers (80%) compared to midwives and clients (62%). CONCLUSION: Midwives perceive that during prenatal counseling the CCR and HE functions of counseling were performed well, whereas DMS was not. Furthermore, this study shows incongruence between midwives and clients about the discussion during DMS, indicating DMS is more difficult to assess than HE. PRACTICE IMPLICATIONS: The best way to measure prenatal counseling practice might be by using assessments of different sources within one study.

Prenatal screening, reproductive choice, and public health.

One widely held view of prenatal screening (PNS) is that its foremost aim is, or should be, to enable reproductive choice; this is the Pure Choice view. The article critiques this position by comparing it with an alternative: Public Health Pluralism. It is argued that there are good reasons to prefer the latter, including the following. (1) Public Health Pluralism does not, as is often supposed, render PNS more vulnerable to eugenics-objections. (2) The Pure Choice view, if followed through to its logical conclusions, may have unpalatable implications, such as extending choice well beyond health screening. (3) Any sensible version of Public Health Pluralism will be capable of taking on board the moral seriousness of abortion and will advocate, where practicable, alternative means of reducing the prevalence of disease and disability. (4) Public Health Pluralism is at least as well-equipped as the Pure Choice model to deal with autonomy and consent issues.

A new ethical landscape of prenatal testing: individualizing choice to serve autonomy and promote public health: a radical proposal.

A new landscape of prenatal testing (PNT) is presently developing, including new techniques for risk-reducing, non-invasive sampling of foetal DNA and drastically enhanced possibilities of what may be rapidly and precisely analysed, surrounded by a growing commercial genetic testing industry and a general trend of individualization in healthcare policies. This article applies a set of established ethical notions from past debates on PNT for analysing PNT screening-programmes in this new situation. While some basic challenges of PNT stay untouched, the new development supports a radical individualization of how PNT screening is organized. This reformation is, at the same time, difficult to reconcile with responsible spending of resources in a publicly funded healthcare context. Thus, while the ethical imperative of individualization holds and applies to PNT, the new landscape of PNT provides reasons to start rolling back the type of mass-screening programmes currently established in many countries. Instead, more limited offers are suggested, based on considerations of severity of conditions and optimized to simultaneously serve reproductive autonomy and public health within an acceptable frame of priorities. The new landscape of PNT furthermore underscores the ethical importance of supporting and including people with disabilities. For the very same reason, no ban on what may be analysed using PNT in the new landscape should be applied, although private offers must, of course, conform to strict requirements of respecting reproductive autonomy and what that means in terms of counselling.

Prenatal screening: an ethical agenda for the near future.

Prenatal screening for foetal abnormalities such as Down's syndrome differs from other forms of population screening in that the usual aim of achieving health gains through treatment or prevention does not seem to apply. This type of screening leads to no other options but the choice between continuing or terminating the pregnancy and can only be morally justified if its aim is to provide meaningful options for reproductive choice to pregnant women and their partners. However, this aim should not be understood as maximizing reproductive choice per se. Only if understood as allowing prospective parents to avoid suffering related to living with (a child with) serious disorders and handicaps can prenatal screening be a publicly or collectively funded programme. The alternative of moving prenatal testing outside the healthcare system into the private sector is problematic, as it makes these tests accessible only to those who can afford to pay for it. New developments in prenatal screening will have to be assessed in terms of whether and to what extent they either contribute to or undermine the stated aim of providing meaningful options for reproductive choice. In the light of this criterion, this article discusses the introduction of the new non-invasive prenatal test (NIPT), the tendency to widen the scope of follow-up testing, as well as the possible future scenarios of genome-wide screening and 'prenatal personalised medicine'. The article ends with recommendations for further debate, research and analysis.

Prenatal screening for congenital anomalies: exploring midwives' perceptions of counseling clients with religious backgrounds.

BACKGROUND: In the Netherlands, prenatal screening follows an opting in system and comprises two non-invasive tests: the combined test to screen for trisomy 21 at 12 weeks of gestation and the fetal anomaly scan to detect structural anomalies at 20 weeks. Midwives counsel about prenatal screening tests for congenital anomalies and they are increasingly having to counsel women from religious backgrounds beyond their experience. This study assessed midwives' perceptions and practices regarding taking client's religious backgrounds into account during counseling. As Islam is the commonest non-western religion, we were particularly interested in midwives' knowledge of whether pregnancy termination is allowed in Islam. METHODS: This exploratory study is part of the DELIVER study, which evaluated primary care midwifery in The Netherlands between September 2009 and January 2011. A questionnaire was sent to all 108 midwives of the twenty practices participating in the study. RESULTS: Of 98 respondents (response rate 92%), 68 (69%) said they took account of the client's religion. The two main reasons for not doing so were that religion was considered irrelevant in the decision-making process and that it should be up to clients to initiate such discussions. Midwives' own religious backgrounds were independent of whether they paid attention to the clients' religious backgrounds. Eighty midwives (82%) said they did not counsel Muslim women differently from other women. Although midwives with relatively many Muslim clients had more knowledge of Islamic attitudes to terminating pregnancy in general than midwives with relatively fewer Muslim clients, the specific knowledge of termination regarding trisomy 21 and other congenital anomalies was limited in both groups. CONCLUSION: While many midwives took client's religion into account, few knew much about Islamic beliefs on prenatal screening for congenital anomalies. Midwives identified a need for additional education. To meet the needs of the changing client population, counselors need more knowledge of religious opinions about the termination of pregnancy and the skills to approach religious issues with clients.

Midwives' views on appropriate antenatal counselling for congenital anomaly tests: do they match clients' preferences?

OBJECTIVE: this study aims to provide insight into: (a) midwives' views on appropriate antenatal counselling for congenital anomaly tests, and (b) whether these views match clients' preferences regarding antenatal counselling. DESIGN: a comparative (midwives versus clients) questionnaire survey. Cognitive interviews (n=8) were used to validate the internal validity of the midwifery questionnaire results. PARTICIPANTS AND SETTING: 1416 Dutch midwives (response 62%) completed a questionnaire measuring their views on appropriate antenatal counselling for congenital anomaly tests. MEASUREMENTS: we used the 58-item midwives' version of the QUOTE (prenatal), an instrument to assess clients' counselling preferences. Descriptive statistics were used to explore midwives' views on appropriate counselling and how these relate to client preferences as measured previously with the clients' version of the QUOTE (prenatal). FINDINGS: almost all midwives consider the client-midwife relation (100%) and health education (95%) to be (very) important for appropriate antenatal counselling for congenital anomaly tests. Almost half of the midwives consider decision-making support (47%) to be (very) important. These findings are practically congruent with client preferences. Still, clinically relevant differences were found regarding 13 individual items, e.g. more clients than midwives value 'medical information about congenital anomalies' and 'getting advice whether to take prenatal tests or not'. KEY CONCLUSION: like clients, most midwives value a good client-midwife relation and health education as (very) important for antenatal counselling for congenital anomaly tests. Less than half of them value decision-making support. These findings are in contrast with the literature in which decision-making support is seen as the most important part of antenatal counselling for congenital anomaly tests. IMPLICATION FOR PRACTICE: preferably, antenatal counselling for congenital anomaly tests should be consistent with the three-function model of antenatal counselling i.e. maintaining a client-midwife relation, providing health education as well as decision-making support, and tailored to clients' individual preferences. As not all midwives subscribe to these functions, reflection on their views is important. Furthermore, midwives need to bridge their views on appropriate antenatal counselling and client preferences. To do so, midwives may benefit from the Shared Decision Making approach.

Pregnancy termination due to fetal anomaly: women's reactions, satisfaction and experiences of care.

OBJECTIVE: to explore what women who have had a pregnancy terminated due to a detected fetal malformation perceived as having been important in their encounters with caregivers for promoting their healthy adjustment and well-being. METHOD: an exploratory descriptive design was used. Semi-structured interviews were audiotaped, and the information pathway described. The text was processed through qualitative content analysis in six steps. SETTING: four fetal care referral centres in Stockholm, Sweden. PARTICIPANTS: 11 women opting for pregnancy termination due to fetal malformation. FINDINGS: in-depth understanding and compassion are important factors in providing the feeling of support people need so they are able to adapt to crisis. The women emphasised that the caregivers have to communicate a sense of responsibility, hope and respect and provide on-going care for them to feel assured of receiving good medical care and treatment. Aside from existing psychological conditions, the women identified as having emotional distress directly after termination and for at least the following three months. Most women experienced a range of negative emotions after pregnancy termination, including sadness, meaninglessness, loneliness, tiredness, grief, anger and frustration. Still some of this group had positive reactions because they experienced empathy and well-organised care. CONCLUSION AND IMPLICATIONS FOR PRACTICE: The most important factors associated with satisfaction regarding pregnancy termination due to a fetal malformation are the human aspects of care, namely state-dependent communication and in-depth understanding and compassion. The changes in care most often asked for were improvements in the level of standards and provision of adequate support through state-dependent communication, in-depth understanding and compassion, and complete follow-up routines and increased resources. Targeted education for the caregivers may be suited to ensuring that they properly meet needs of their patients.

Management of vaginal agenesis.

PURPOSE OF REVIEW: Mayer-Rokitansky-Küster-Hauser syndrome is undergoing new research outcomes involving genetics and management. RECENT FINDINGS: Recent literature supports a polygenic multifactorial genetic basis for the syndrome. Management is now predominantly by vaginal dilators and nonsurgical, but holistic. The future of uterine transplantation is discussed. SUMMARY: New developments open new possibilities for understanding the genetic basis of the disease, and research in this area will continue. Management in terms of fertility may have an added dimension if uterine transplantation and successful pregnancy outcome can be proven.