Value Analysis of Four-Dimensional Color Ultrasound Combined with Maternal Serological Index in Prenatal Screening for Fetal Anomalies.

Objective: This study aimed to assess the efficacy of combining four-dimensional (4D) color ultrasound with maternal serological index testing in prenatal screening for fetal anomalies. Methods: A retrospective analysis was conducted on data from 864 pregnant women who underwent prenatal checkups at the hospital between January 2020 and January 2021. During the mid-pregnancy period, serological tests were performed to determine levels of alpha-fetoprotein (AFP), free ß-subunit of human chorionic gonadotropin (Free-HCG ß), pregnancy-associated plasma protein A (PAPP-A), and vitamin B12 (VitB12). Additionally, 4D color ultrasound examinations were conducted. The gold standard for evaluation was the results of delivery or labor induction. AFP, Free-HCG ß, PAPP-A, and VitB12 levels were compared between the anomaly group and the normal group. The diagnostic efficacy of single and combined detection of serological indexes and 4D color ultrasound was analyzed, with the calculation of the areas under the curve (AUC) for different detection methods. Results: Among the 864 pregnant women, 44 cases (5.09%) exhibited fetal anomalies, while 820 cases (94.91%) did not. The anomaly group showed significantly higher multiples of the median (MOM) values for AFP and Free-HCG ß (P < .001) and significantly lower PAPP-A MOM and VitB12 levels (P < .001) compared to the normal group. The sensitivity of single detections for AFP MOM, Free-HCG ß MOM, PAPP-A MOM, VitB12, 4D color ultrasound, and combined detection were 63.64%, 68.18%, 65.91%, 54.55%, 77.27%, and 97.93%, respectively. The corresponding AUC values were 0.805, 0.829, 0.818, 0.761, 0.885, and 0.974. Conclusions: The combination of 4D color ultrasound with maternal serological index testing demonstrated high sensitivity in prenatal screening for fetal anomalies.

Threat and adaptation: The maternal lived experience of continuing pregnancy after receiving a prenatal diagnosis of agenesis of the corpus callosum.

One stated objective of prenatal screening and diagnosis is the preparation for delivering a baby with medical needs or disability, however, psychosocial outcomes of parents who received a prenatal diagnosis suggest that this objective is not yet realised. Preparation may be complicated by diagnostic and prognostic uncertainty. A prenatal diagnosis that includes significant uncertainty due to the heterogeneous presentations, classifications, causes and outcomes is agenesis of the corpus callosum. As a neuroanatomical anomaly identified in the second or third trimesters, the diagnosis is likely to cause distress for expectant mothers, yet there is limited guidance for holistic support. To begin to address the paucity of research, this hermeneutic phenomenological study sought to explore, and provide a telling of the maternal experience of continuing pregnancy after a prenatal diagnosis of agenesis of the corpus callosum. Through interviews and a series of online, asynchronous and facilitated focus groups, lived experiences during pregnancy from the time of diagnosis to birth were explored with 26 mothers who participated in this international study. Themes were constructed through reflexive thematic analysis to describe the experience of the lived phenomenon. The first theme, Under Threat, included subthemes of The Threat to the Life of the Baby and Threatened Image of the Expected Family. The second theme, Day to Day Toward Adaptation, included subthemes of Holding it Together and Falling Apart, and More Than Information, Searching for Meaning, Hope and Control. To realise the commonly stated objective of prenatal diagnosis, to support maternal preparation, healthcare professionals require awareness of the profound, yet individual experience of prenatal diagnosis to adequately respond and support mothers through their continued pregnancies. Healthcare services should be designed to flexibly respond in a woman- and family-centred manner to reduce the threat and support maternal adaptation after a prenatal diagnosis.

Prenatal Diagnosis and Molecular Cytogenetic Analyses of a de novo Deletion on Chromosome 4p16.3p15.33.

Wolf-Hirschhorn syndrome (WHS) (OMIM 194190) is a contiguous gene syndrome with an estimated prevalence of around 1 in 50,000 births. The syndrome is caused by the deletion of a critical region (Wolf-Hirschhorn Syndrome Critical region-WHSCR) on chromosome 4p16.3. Its core features are typical facial gestalt, growth retardation, intellectual disability, developmental delay, and seizures. Prenatal diagnosis of WHS helps clinicians and parents make informed decisions about pregnancy management. In this research, a 31-year-old woman (gravida 1, para 0) underwent amniocentesis at 18 weeks gestation because of the short nasal bone of the fetus on prenatal ultrasound. Chromosomal microarray analysis (CMA) on uncultured amniocytes revealed a de novo 11.36-Mb deletion on chromosome 4p16.3p15.33, spanning from position 40 000 to 11 400 000 (hg19). After genetic counselling and being informed of the unfavorable prognosis, the parents decided to terminate the pregnancy. We provide a detailed description of a de novo 11.36-Mb deletion on chromosome 4p16.3p15.33 (Wolf-Hirschhorn syndrome). CMA has more advantages than karyotype analysis in detecting chromosomal microdeletions/microduplications. A combination of karyotype analysis, CMA, prenatal ultrasound, and genetic counseling is helpful for the prenatal diagnosis of chromosomal deletions/duplications.

Retrieval of Trophoblast Cells from the Cervical Canal: A Promising Non-invasive Method for Prenatal Diagnosis.

Background: Extravillous trophoblasts (EVTs) cells have shown promise for their application in non-invasive prenatal diagnosis during the first trimester. The Trophoblast Retrieval and Isolation from the Cervix (TRIC) method allows for the isolation of homogeneous trophoblast cells from pregnant women as early as 5 weeks gestation. Objective: This study aimed to explore the potential value of extravillous trophoblast cells collected from the cervix, enriched, and purified using the TRIC method for first-trimester prenatal diagnosis. Methods: A prospective observational study was conducted, and we collected extravillous trophoblast cells from the cervixes of 100 pregnant women between 5-7 weeks gestation before an induced abortion. Subsequently, these cells underwent STR analysis and fluorescence in situ hybridization (FISH). Results: Out of the 100 cases, trophoblast cells were successfully collected from 96 cases. Among them, STR analysis revealed maternal cell contamination in 13 cases. Gender determination using FISH showed 44 male cases (including one case with 47, XY, +21) and 39 female cases (including one case with 47, XXX). The results of the FISH examination of these 83 cases were in concordance with those of the villi FISH examination. Conclusions: The collection of fetal trophoblast cells from the cervix represents a feasible and non-invasive approach for first-trimester prenatal diagnosis. The TRIC method enables efficient enrichment and purification of trophoblast cells, which can be of significant benefit for subsequent diagnosis using the FISH method.

Genetic Counseling and Prenatal Diagnosis of a Maternally Inherited 15q11.2 Microduplication.

Unbalanced chromosome abnormalities (UBCA) are large genomic region variations that often result in minimal clinical effects. Copy number variants (CNVs), such as microdeletions and microduplications in 15q11.2, have been linked to various health issues, making prenatal diagnosis and genetic counselling challenging. Microdeletions and microduplications in the genomic region 15q11.2 are associated with congenital heart defects, autism, schizophrenia, epilepsy, mental retardation and developmental delay. The literature on this microduplication is confusing and extensive, which is a great difficulty for prenatal diagnosis and genetic counselling. A 35-year-old female undergoing amniocentesis at Week 19 due to advanced maternal age revealed a normal 46,XX karyotype through G-banding analysis. However, Chromosomal microarray analysis (CMA) on the same amniocytes detected a 550-Kb maternally inherited chromosomal microduplication in 15q11.2. An integrated approach combining karyotype analysis, CMA, genetic counseling, and prenatal ultrasound is crucial for the accurate prenatal diagnosis of UBCAs and CNVs.

De Novo Mutation in KRT1 Leads to Epidermolytic Palmoplantar Keratoderma: from Chinese Traditional Treatment to Prenatal Diagnosis Using Whole-Exome Sequencing-Plus.

Congenital skin disorders are a class of complex genetic diseases that are difficult to diagnose and treat. We developed trio whole-exome sequencing-plus (WES-plus) for detecting de novo mutations and evaluated the use of traditional Chinese medicine (TCM) for treating congenital skin disorders. In this study, we successively performed panel-based next-generation sequencing (NGS) and Trio WES-plus in a child with frequent large blisters. Panel-based NGS revealed no pathogenic mutations. Trio WES-plus for resequencing based on cutaneous keratosis of the palms and feet detected a missense mutation (c.1436T>A, p.Ile479Asn) in the coding region of KRT1 in the child but not in his parents. Following prenatal diagnosis, a healthy second baby without the mutation was born. The disease symptoms of epidermolytic palmoplantar keratoderma (EPPK) application were improved by TCM and Western medicine. Our study revealed the pathogenicity of a de novo mutation in human KRT1, which expands the mutation spectrum of EPPK. Trio WES-plus is useful for diagnosing genetic diseases and providing genetic guidance from prenatal diagnosis to treatment.

Prenatal Diagnosis and Genetic Counseling of a Maternally Inherited Chromosome 15q11.2q13.1 Duplication in a Chinese Family.

Background: Maternally inherited chromosomal duplications in the region of 15q11.2q13.1 have been associated with neurodevelopmental disorders and other clinical manifestations. Prenatal diagnosis of such duplications is crucial for providing accurate genetic counseling and guiding clinical management decisions. Objective: This study aims to present the prenatal diagnosis and genetic counseling of a maternally inherited 15q11.2q13.1 duplication. Case Presentation: A 38-year-old gravida 1, para 0 woman underwent amniocentesis at 16 weeks of gestation due to advanced maternal age. Karyotype analysis was performed on cultured amniocytes, and chromosomal microarray analysis (CMA) was conducted on uncultured amniocytes. Results: The karyotype analysis of the cultured amniocytes revealed a normal karyotype of 46, XX. CMA identified a 4.21 Mb maternally inherited chromosomal duplication in the region of 15q11.2q13.1 (arr[GRCh37]15q11.2q13.1(23,894,550_28,107,154)x3). Conclusions: Copy number variants (CNVs) and unbalanced chromosomal abnormalities (UBCA) identified in prenatal cases require careful consideration and accurate interpretation to determine their potential harm or harmlessness compared to the norm. The combination of prenatal ultrasound, karyotype analysis, CMA, and genetic counseling proves helpful in the prenatal diagnosis of CNVs and UBCA.

Exploring continuity of care for women with prenatal diagnosis of congenital anomaly: A mixed method study.

AIMS: To map the pathway and service provision for pregnant women whose newborns require admission into the surgical neonatal intensive care unit at or soon after birth, and to examine the nature of continuity of care (COC) provided and the facilitators and barriers to woman- and family-centred care from the perspective of women/parents and health professionals. BACKGROUND: Limited research exists on current service and care pathways for families whose babies are diagnosed with congenital abnormality requiring surgery. DESIGN: A mixed method sequential design adhering to EQUATOR guidelines for Good Reporting of a Mixed Methods Study. METHODS: Data collection methods included: (1) a workshop with health professionals (n = 15), (2) retrospective maternal record review (n = 20), prospective maternal record review (17), (3) interviews with pregnant women given a prenatal diagnosis of congenital anomaly (n = 17) and (4) interviews with key health professionals (n = 7). RESULTS/FINDINGS: Participants perceived care delivered by state-based services as problematic prior to admission into the high-risk midwifery COC model. Once admitted to the high-risk maternity team women described care 'like a breath of fresh air' with a 'contrast in support', where they felt supported in their decisions. CONCLUSION: This study highlights provision of COC, in particular relational continuity between health providers and women as essential to achieve optimal outcomes. RELEVANCE TO CLINICAL PRACTICE: Provision of individualised COC offers an opportunity for perinatal services to reduce the negative consequences of pregnancy-related stress associated with diagnosis of foetal anomaly. PATIENT OR PUBLIC CONTRIBUTION: No patient or public was involved in the design, analysis, preparation or writing of this review.

Fertility and Pregnancy in Women with Transfusion-Dependent Thalassemia.

Because women with transfusion-dependent thalassemia are seeking pregnancy, ensuring the best outcomes for both mother and baby require concerted and collaborative efforts between the hematologist, obstetrician, cardiologist, hepatologist, and genetic counselor among others. Proactive counseling, early fertility evaluation, optimal management of iron overload and organ function, and application of advances in reproductive technology and prenatal screening are important in ensuring a healthy outcome. Many unanswered questions remain requiring further study, including fertility preservation, non-invasive prenatal diagnosis, chelation therapy during pregnancy, and indications and duration of anticoagulation.

Prevalence, Pattern, and Outcome of Congenital Anomalies Admitted to a Neonatal Unit in a Low-Income Country-a Ten-Year Retrospective Study.

OBJECTIVE: The incidence of congenital abnormalities is highest in low-and-middle-income countries. However, the prevalence, spectrum, trends of neonatal congenital anomalies and their admission outcomes have not been well explored. This study was a 10 year retrospective hospital-based research in a low-income country to address the above. METHODS: All infants hospitalized in the Special Care Baby Unit at the Cape Coast Teaching Hospital in Ghana, between 1st January 2010 and 31st December 2019, had their demographic, obstetric, and clinical data recorded. RESULTS: Over the decade, 236 neonates with congenital abnormalities were admitted to the unit, accounting for 2.8% of total neonatal admissions and 8.6 per 1000 births. Mortality occurred in 33.2% of neonates with congenital abnormalities, corresponding to 4.6% of all neonatal deaths. Mortality was significantly associated with place of delivery and gravidity of more than five. The commonest anomalies were in the nervous system, particularly neural tube defects, followed by suspected chromosomal abnormalities and then cardiac defects. Neonates with cardiac defects had a higher chance of dying. Health center/clinic delivery proffered a better survival than hospital delivery, but this should be interpreted with caution. CONCLUSION: Neural tube defects were the most predominant anomalies; hence, intensification of preconception and antenatal folic acid supplementation is pivotal towards their reduction. Making prenatal screening for early detection of fetal anomalies an integral part of routine antenatal care is also essential. This research was conducted in a single center and did not include stillbirths and abortions so cannot give an accurate estimation of the number of congenital abnormalities in the population. A national registry of congenital anomalies is recommended.

Association of Patient and Site-of-Care Characteristics With Reproductive Carrier Screening Timing in a Large Integrated Health System.

Importance: Reproductive genetic carrier screening can be performed prior to or during pregnancy to assess a reproductive couple's risk of having a child with a recessively inherited disorder. Although professional societies endorse preconception screening as preferable to prenatal screening to allow for greater reproductive choice, implementation of preconception screening is challenging. Objective: To determine how carrier screening timing varies by multilevel factors associated with health care delivery including patient, clinician, and location across a large integrated health care system. Design, Setting, and Participants: This cross-sectional study used a mixed-methods approach including (1) quantitative analysis of multilevel factors associated with the timing of reproductive carrier screening and (2) qualitative analyses of data from interviews conducted with clinicians ordering carrier screenings. The setting was the Mass General Brigham, a large integrated health care system in the greater Boston, Massachusetts area. Participants included adult female patients who completed reproductive carrier screening performed by Myriad Women's Health between October 1, 2018, to September 30, 2019. Exposures: Site of care (ordering clinical location and hospital affiliate), ordering clinician specialty, and patient characteristics, including age at date of test collection, self-reported race and ethnicity, primary insurance payor, and number of comorbidities. Main Outcomes and Measures: The primary outcome was the timing of carrier screening (preconception vs prenatal). A series of 4 multilevel logistic regression models were fitted to measure the relative contribution of site, clinician, and patient-level factors on the timing of screening. Interviews with ordering clinicians (N = 9) were analyzed using a framework approach to explore barriers to preconception screening. Results: Among 6509 adult female patients who completed carrier screenings, 770 (12%) were Asian, 352 (5%) were Hispanic, 640 (10%) were non-Hispanic Black, 3844 (59%) were non-Hispanic White, 858 (13%) were other or multiple races and ethnicities, and 2611 (40%) were aged 31 to 35 years; 4701 (63%) had prenatal screening and 2438 (37%) had preconception screening; screenings were ordered by 161 distinct clinicians across 32 clinical locations affiliated with 4 hospitals. In model 1, adjusted for hospital (fixed effect), clinic and clinician (random effects), 49% of the variability in timing was associated with clinician-level effects (intraclass correlation coefficient [ICC], 0.49) and 28% was associated with clinic-level effects (ICC, 0.28). Clinician specialty explained the greatest amount of variation in screening timing. Interviewed clinicians (N = 9) supported preconception screening but cited several barriers to offering population-based preconception screening. Conclusions and Relevance: In this cross-sectional study, multilevel factors were associated with carrier screening timing. These findings suggest that increasing access to preconception screening may involve engaging specific medical specialties.

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).

THALASSEMIA in ASIA 2021: Thalassemia in Guangxi Province, People's Republic of China.

Guangxi Province is located in the southwest of the People's Republic of China (PRC). The province has a population of 50.12 million with a birth rate of 13.31%. Thalassemia is a major health problem in Guangxi Province. About 20.0-25.0% of the population carries thalassemia genes, which is acknowledged to be the highest prevalence in China. National and provincial programs for thalassemia prevention and control have been introduced. Premarital screening and prenatal diagnosis (PND) for the prevention of thalassemic fetuses are available. Blood transfusions, iron chelation therapy, and stem cell transplantation are also available for transfusion-dependent thalassemic patients.

Diagnostic Value and High-Risk Factors of Two-Dimensional Ultrasonography Combined with Four-Dimensional Ultrasonography in Prenatal Ultrasound Screening of Fetal Congenital Malformations.

Objective: This study mainly analyzes the diagnostic value of two-dimensional ultrasonography (2D-US) combined with four-dimensional ultrasonography (4D-US) in prenatal ultrasound screening of fetal congenital malformations (CMs) and explores the high-risk factors affecting fetal malformations. Methods: The clinical and imaging data of 2247 pregnant women who underwent prenatal fetal malformation screening in the General Hospital of Ningxia Medical University between February 2020 and October 2021 were collected and analyzed, retrospectively. All pregnant women underwent 2D-US, and those with suspected fetal malformations were further inspected by 4D-US. The accuracy of ultrasound examination results relative to actual pregnancy outcomes was analyzed, taking the neonatal malformation after induced labor or actual delivery as the gold standard, and the risk factors influencing the occurrence of fetal malformations were discussed. Results: A total of 87 cases (3.87%) of fetal malformations were detected out of the 2247 parturients examined. The accuracy, sensitivity, and specificity of 2D-US diagnosis were 81.40%, 43.68%, and 82.92%, respectively, while the data were 83.67%, 51.72%, and 84.95% for 4D-US, respectively, and 93.59%, 90.80%, and 93.70%, respectively, for 2D-US +4D-US. The combined diagnosis of 2D-US +4D-US achieved statistically higher accuracy, sensitivity, and specificity than either of them alone. One-way analysis of variance and multivariate logistic regression analysis identified that the independent risk factors affecting fetal malformation were age ≥ 35, history of adverse pregnancy and childbirth, medication during pregnancy, toxic exposure during pregnancy, and history of seropositive for TORCH-IgM. Folic acid supplementation was a protective factor. Conclusions: Prenatal US is an effective approach for screening fetal malformations. 2D-US +4D-US can effectively improve the diagnostic rate of fetal malformations. For pregnant women with high-risk factors, prevention should be given priority, and prenatal screening and prenatal diagnosis should be standardized to reduce the occurrence of fetal malformations.

Investigating the landscape and trajectory of spina bifida research in Asia: a bibliometric analysis.

BACKGROUND: Spina bifida is a type of a neural tube defect which affects 243.14 per 100,000 babies in Asia. Research articles on spina bifida have increased in the recent years. However, no study has focused on the research trends in this field in Asia. METHODS: A systematic review of literature on spina bifida in Asia was performed using the Scopus database from inception to 2020. All published studies on spina bifida conducted in or published by authors from Asia were included in our analysis. Bibliometric information was obtained from Scopus and bibliometrics diagrams were created using VOSviewer software. RESULTS: A total of 652 articles were obtained in this study. The number of publications showed an upward trend starting 2000s. The country with the greatest number of publications was Japan while All India Institute of Medical Sciences was the most productive institution in spina bifida research in Asia. The current focus of this field in Asia was prevalence of spina bifida, prenatal diagnosis, folic acid supplementation, and complications of spina bifida. Future areas of research in spina bifida include the genetic basis of neural tube defects and the use of stem cell technology as therapies for spina bifida. CONCLUSION: This is the first bibliometric analysis on spina bifida in Asia. It showed the trend and future areas of research on spina bifida in Asia. Despite the increase in scientific literature on spina bifida research, more research outputs and collaborations are needed especially in developing countries in Asia.

Prenatal diagnosis of craniorachischisis totalis.

Craniorachischisis totalis (anencephaly with total open spina bifida) is the most severe form of neural tube defects. The exact aetiology of neural tube defects remains poorly understood. We report a case of a primigravida in her 20s with a fetus in which craniorachischisis totalis was diagnosed during the first-trimester ultrasound at 11 weeks of gestation. The parents opted for pregnancy termination and the diagnosis was confirmed postnatally. Besides the lack of folic acid supplementation during preconception, no other risk factor was found. This case highlights the importance of the first-trimester ultrasound in the diagnosis of severe malformations. The right diagnosis is crucial for future prenatal counselling, yet investigation is still required to better understand the aetiology behind neural tube defects and assess the possibility of underlying genetic features, thus enabling better counselling.

Mediating Role of Mental Resilience between Sleep Quality and Mindfulness Level of Pregnant Women Screened by Prenatal Diagnosis.

OBJECTIVE: To explore the status quo of psychological resilience, mindfulness level, the sleep quality of pregnant women by Prenatal Diagnosis Screening, and the mediating effect of psychological resilience on sleep quality and mindfulness. METHODS: A survey of 298 pregnant women was conducted using the psychological resilience scale, Pittsburgh sleep quality index, and the concise version of the five-factor mindfulness scale. RESULTS: The total score of psychological resilience of pregnant women was (68.96 ± 17.27), mindfulness was (77.25 ± 12.65), the median of total sleep quality was 6, and the detection rate of sleep disorders was 31.9%. The sleep quality of pregnant women was negatively correlated with mindfulness level and psychological resilience (p < 0.01), and mindfulness level was positively associated with psychological resilience (p < 0.01). Bootstrap analysis showed that psychological resilience played an 14.1% mediating role between mindfulness and sleep quality. CONCLUSION: The psychological resilience of pregnant women is low, sleep quality is poor, and mindfulness is mild to moderate. Psychological resilience plays an important role in mediating between mindfulness level and sleep quality that suggests nursing staff should pay attention to and improve the psychological resilience of pregnant women screened by prenatal diagnosis to improve the mindfulness level and sleep quality of pregnant women screened by prenatal diagnosis.

Practices for RhD alloimmunization prevention: a vignette-based survey of midwives.

INTRODUCTION: Despite the availability guidelines to prevent RhD alloimmunization, severe hemolytic disease of fetus and newborn still occurs in high-income countries. The aim of the study was (1) To assess variations in practices for the prevention of RhD alloimmunization, and (2) to understand midwives' acceptance and appropriation of fetal RhD genotyping. METHODS: Descriptive cross-sectional survey of French midwives from September 2017 through January 2018. Participants were asked to complete an internet-based questionnaire that included three clinical vignettes. They were questioned about their practices concerning early pregnancy visit by RhD-negative women, prevention of RhD alloimmunization in women with second-trimester metrorrhagia, and RhD fetal genotyping. RESULTS: A total of 827 midwives completed the questionnaire. Only 21.1% reported that they practice all the preventive measures recommended in early pregnancy. In a situation at high risk of RhD alloimmunization during pregnancy, 97.2% of midwives would perform immunoprophylaxis. Nearly, all midwives reported providing information about RhD alloimmunization (92.4%) at the beginning of pregnancy, although only 11.3% offered both written and verbal information; at the time of systematic anti-D immunoprophylaxis (28 weeks), 78% provided information, but only 2.7% both verbally and in writing. Finally, only 50.8% of midwives preferred to include RhD fetal genotyping in routine prenatal prophylaxis. DISCUSSION: This study showed significant variations in French midwives' practices to prevent RhD alloimmunization. Better dissemination of guidelines is needed to improve both consistent use of these practices and the quality of information delivered to RhD-negative pregnant women.

Leaning towards Cytomegalovirus serological screening in pregnancy to prevent congenital infection: a cost-effectiveness perspective.

OBJECTIVE: To assess the cost-effectiveness of prenatal detection of congenital cytomegalovirus (cCMV) following maternal primary infection in the first trimester within standard pregnancy follow-up or involving population-based screening (serological testing at 7 and 12 weeks of gestation), with or without secondary prevention (valaciclovir) in maternal CMV primary infection. DESIGN: Cost-effectiveness study from the perspective of the French national health insurance system. SETTING: Cost-effectiveness based on previously published probability estimates and associated plausible ranges hypothetical population of 1,000,000 pregnant women. POPULATION: Hypothetical population of 1,000,000 pregnant women. METHODS: Cost-effectiveness of detecting fetal cCMV in terms of the total direct medical costs involved and associated expected outcomes. MAIN OUTCOME MEASURES: Detection rates and clinical outcomes at birth. RESULTS: Moving to a population-based approach for targeting fetal CMV infections would generate high monetary and organizational costs while increasing detection rates from 15% to 94%. This resource allocation would help implementing horizontal equity according to which individuals with similar medical needs should be treated equally. Secondary prevention with valaciclovir had a significant effect on maternal-fetal CMV transmission and clinical outcomes in newborns, with a 58% decrease of severely infected newborns for a 3.5% additional total costs. Accounting for women decision-making (amniocentesis uptake and termination of pregnancy in severe cases) did not impact the cost-effectiveness results. CONCLUSIONS: These findings could fuel thinking on the opportunity of developing clinical guidelines to rule identification of cCMV infection and administration of in-utero treatment. These findings could fuel the development of clinical guidelines on the identification of congenital CMV infection and the administration of treatment in utero. TWEETABLE ABSTRACT: CMV serological screening followed by valaciclovir prevention may prevent 58% to 71% of severe cCMV cases for 38 € per pregnancy.

Parents' experiences of the information provided at the antenatal clinic regarding foetal diagnostics - A qualitative interview study.

OBJECTIVE: This study aimed to examine the pregnant women's and their partner's experience of the information given at the antenatal clinic regarding screening methods. METHODS: A qualitative interview study was conducted in the Gothenburg area in Sweden. Ten women and seven partners expecting their first child were interviewed adjacent to the second-trimester ultrasound examination. The data were analysed using qualitative content analysis. RESULTS: The findings present an overall theme, three main categories, and ten subcategories. The overall theme showed a nonhomogeneous and individually based picture concerning the meaning and purpose of the methods, need for improvement of information, parents own information seeking, and the encounter with the midwife was also experienced as an influential encounter. The main categories show that diversity relates to the level of information given, voluntariness, the possibility of abnormal findings, and varying needs to thorough information and pre-existing knowledge. The midwifés impact was related to attitude, openness for questions, time for explanations, and the balance between providing enough information to support without worrying the parents. CONCLUSIONS: Although previous research has pointed out a decade ago that information regarding foetal diagnostics is lacking, this study shows that these shortcomings still exist and that improvement is needed. The given information should be explicit concerning the purpose, limitations, and voluntariness of prenatal testing. Sufficient time for questions and discussion is as important as considering the parents' pre-existing knowledge, individual thoughts or questions, and a neutral attitude from the midwife is desirable.