Prenatal Diagnosis最新文献

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Residual Risks of Fetal Chromosome Aberrations When Cell-Free DNA Prenatal Screening Is Normal: A Retrospective Study. 无细胞DNA产前筛查正常时胎儿染色体畸变的残留风险:一项回顾性研究。
IF 2.7 2区 医学
Prenatal Diagnosis Pub Date : 2025-09-24 DOI: 10.1002/pd.6888
Adriana I Iglesias, Diane Van Opstal, Florentine F Thurik, Mark Drost, Marjolein J A Weerts, Marieke Joosten, Karin E M Diderich, Vyne van der Schoot, Myrthe van den Born, Robert-Jan H Galjaard, Stefanie van Veen, Eveline Goedegebuur-Zwalua, Sabina de Weerd, Anneke Dijkman, Dimitri Papatsonis, Jérôme M J Cornette, Sander Galjaard, Maarten F C M Knapen, Krista Prinsen, Attie T J I Go, Kyra E Stuurman, Malgorzata I Srebniak
{"title":"Residual Risks of Fetal Chromosome Aberrations When Cell-Free DNA Prenatal Screening Is Normal: A Retrospective Study.","authors":"Adriana I Iglesias, Diane Van Opstal, Florentine F Thurik, Mark Drost, Marjolein J A Weerts, Marieke Joosten, Karin E M Diderich, Vyne van der Schoot, Myrthe van den Born, Robert-Jan H Galjaard, Stefanie van Veen, Eveline Goedegebuur-Zwalua, Sabina de Weerd, Anneke Dijkman, Dimitri Papatsonis, Jérôme M J Cornette, Sander Galjaard, Maarten F C M Knapen, Krista Prinsen, Attie T J I Go, Kyra E Stuurman, Malgorzata I Srebniak","doi":"10.1002/pd.6888","DOIUrl":"https://doi.org/10.1002/pd.6888","url":null,"abstract":"<p><strong>Objectives: </strong>To estimate the residual risk of fetal chromosomal aberrations in pregnant women with normal cell-free DNA (cfDNA) screening results to refine prenatal counseling.</p><p><strong>Methods: </strong>A retrospective single-center study was conducted between April-2017 and March-2021. In total, 46,007 women received a normal cfDNA screening result. The cohort was subdivided into women receiving normal results for only chromosomes 13/18/21 (targeted cfDNA) and all autosomes (genome-wide cfDNA with a test resolution ∼10-20 Mb). Cytogenomic follow-up included prenatal or postnatal chromosomal microarray (CMA) data.</p><p><strong>Results: </strong>Out of 46,007 women with normal cfDNA results, 806 (1.8%) were referred for CMA testing; the majority (511/806) were referred due to ultrasound anomalies. The residual risk for a pathogenic chromosomal aberration in the entire targeted cfDNA cohort was 1:641 (0.15%); in the genome-wide cfDNA group, it was 1:699 (0.14%). For fetuses with ultrasound anomalies, the residual risk for a pathogenic chromosomal aberration in the targeted-cfDNA group was 1:8 (13.3%), and 1:12 (8.1%) in the genome-wide cfDNA group.</p><p><strong>Conclusions: </strong>The residual risk of a pathogenic CNV after a normal cfDNA result is low in women who opt for screening. However, when ultrasound anomalies are detected, this risk is severely increased, justifying the use of invasive testing even with normal cfDNA results. These figures can be used for pre-and-post-test counseling.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-09-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145138596","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Longitudinal Magnetic Resonance Imaging Study of Hemodynamic Changes in the Third Trimester in Fetuses With Major Congenital Heart Defects and Healthy Fetuses. 重度先天性心脏缺陷胎儿与健康胎儿妊娠晚期血流动力学变化的纵向磁共振成像研究。
IF 2.7 2区 医学
Prenatal Diagnosis Pub Date : 2025-09-24 DOI: 10.1002/pd.6893
Signe G Hellmuth, Ditte S Jørgensen, Alan Wright, Cathrine Vedel, Ann Tabor, Olav B Petersen, Niels Vejlstrup
{"title":"Longitudinal Magnetic Resonance Imaging Study of Hemodynamic Changes in the Third Trimester in Fetuses With Major Congenital Heart Defects and Healthy Fetuses.","authors":"Signe G Hellmuth, Ditte S Jørgensen, Alan Wright, Cathrine Vedel, Ann Tabor, Olav B Petersen, Niels Vejlstrup","doi":"10.1002/pd.6893","DOIUrl":"https://doi.org/10.1002/pd.6893","url":null,"abstract":"<p><strong>Objectives: </strong>To assess hemodynamic changes in the third trimester by magnetic resonance imaging (MRI) in fetuses with major congenital heart defects (CHD).</p><p><strong>Methods: </strong>Twenty fetuses with CHD and 23 healthy controls had consecutive MRI at 28, 32, and 38 weeks of gestation. Blood flow in the ascending aorta, main pulmonary artery, and umbilical vein was measured using phase contrast MRI and indexed to estimated fetal weight. Mixed effects models assessed weight-indexed changes over time and between groups. CHD cases were further classified into left-sided defects, right-sided defects, or transposed great arteries for subgroup analysis.</p><p><strong>Results: </strong>Combined ventricular output (CVO) decreased by 1.7% per week (95% CI 0.7%-2.7%) from 28 to 38 weeks in both fetuses with CHD and controls, with no difference between groups (p = 0.3). Umbilical vein (UV) flow decreased by 2.5% per week (95% CI 1.5%-3.5%) with no difference between groups (p = 0.7). CVO was correlated with UV flow (r = 0.6, 95% CI 0.4-0.7). The aortic-to-pulmonary flow ratio remained constant in all subgroups. Left- and right-sided defects were associated with increased flow across the contralateral side.</p><p><strong>Conclusion: </strong>CVO decreased similarly in fetuses with CHD and controls during the third trimester, associated with reduced UV flow, reflecting a more efficient placenta toward term.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-09-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145138512","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Associations of Physician Perspectives, Personal Choices, and Counseling for Severe Congenital Heart Defects. 严重先天性心脏缺陷的医师观点、个人选择和咨询协会。
IF 2.7 2区 医学
Prenatal Diagnosis Pub Date : 2025-09-23 DOI: 10.1002/pd.6901
Joyce L Woo, Tara M Swanson, Shiraz A Maskatia, Shaine A Morris, John D Lantos, Angira Patel
{"title":"Associations of Physician Perspectives, Personal Choices, and Counseling for Severe Congenital Heart Defects.","authors":"Joyce L Woo, Tara M Swanson, Shiraz A Maskatia, Shaine A Morris, John D Lantos, Angira Patel","doi":"10.1002/pd.6901","DOIUrl":"10.1002/pd.6901","url":null,"abstract":"<p><strong>Objective: </strong>To assess whether physicians' perspectives of outcomes or personal choices are associated with prenatal counseling for termination of pregnancy (TOP) or perinatal hospice for severe congenital heart defects (CHDs).</p><p><strong>Method: </strong>Multicenter survey of pediatric cardiologists and congenital heart surgeons in the United States, 2016-2018. The survey measured perspectives of CHD outcomes, personal choices/considerations, and prenatal counseling for TOP or perinatal hospice. Bivariate comparisons estimated associations between outcome perspectives, personal choices, and counseling.</p><p><strong>Results: </strong>Response rate was 77% (135/176); 47% (63/135) believed that single-ventricle portends good long-term quality of life or transplant-free survival. The majority (70%-90% depending on CHD type) would consider perinatal hospice for their own child, but a minority (2%-16% depending on CHD type) would choose perinatal hospice over TOP or postnatal intervention. Physicians who would consider TOP for themselves/their partner were more likely to counsel about TOP than physicians who would not consider TOP for themselves/their partner (99% vs. 67%, p < 0.001). There were no associations between institutional practice, outcome perspectives, personal consideration for hospice, and counseling practices.</p><p><strong>Conclusion: </strong>Physician perspectives of single-ventricle outcomes remain guarded but were not associated with counseling. However, personal choices/considerations are associated with counseling practices; therefore, considering personal beliefs is crucial to help families make fully informed decisions.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-09-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145131781","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Attitudes Toward Selective Abortion: The Role of Prenatal Diagnosis and Prognosis. 对选择性流产的态度:产前诊断和预后的作用。
IF 2.7 2区 医学
Prenatal Diagnosis Pub Date : 2025-09-23 DOI: 10.1002/pd.6892
Cristián G Rodríguez, Mahesh Choolani, Sebastián E Illanes
{"title":"Attitudes Toward Selective Abortion: The Role of Prenatal Diagnosis and Prognosis.","authors":"Cristián G Rodríguez, Mahesh Choolani, Sebastián E Illanes","doi":"10.1002/pd.6892","DOIUrl":"https://doi.org/10.1002/pd.6892","url":null,"abstract":"<p><strong>Objective: </strong>To study variation in moral attitudes toward selective abortion in cases of prenatal diagnosis of a disability in the general population.</p><p><strong>Methods: </strong>926 participants completed a survey in which they expressed their moral views regarding a person's decision to have an abortion following a prenatal diagnosis of a disability.</p><p><strong>Results: </strong>people morally endorsed selective abortion over the control condition (no diagnosis of disability); diagnoses of motor disability and sensorial disabilities were associated with stronger support for selective abortion; variations in prognoses about the expected social relationality and physical pain did not alter substantially the moral acceptance of selective abortion.</p><p><strong>Conclusions: </strong>people view selective abortion after a prenatal diagnosis of a disability as more morally acceptable than abortion without a diagnosis; however, predicting future impairments does not appear to influence support for pregnancy termination.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-09-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145131793","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The Expanding Role of Gene Sequencing in Shaping Fetal Therapies: Clinical and Ethical Considerations. 基因测序在塑造胎儿治疗中的扩展作用:临床和伦理考虑。
IF 2.7 2区 医学
Prenatal Diagnosis Pub Date : 2025-09-19 DOI: 10.1002/pd.6890
Matthew A Shear, Beltran Borges, Billie R Lianoglou, Tony Lum, Emma Canepa, Jennifer L Cohen, Julia E H Brown, Akos Herzeg
{"title":"The Expanding Role of Gene Sequencing in Shaping Fetal Therapies: Clinical and Ethical Considerations.","authors":"Matthew A Shear, Beltran Borges, Billie R Lianoglou, Tony Lum, Emma Canepa, Jennifer L Cohen, Julia E H Brown, Akos Herzeg","doi":"10.1002/pd.6890","DOIUrl":"https://doi.org/10.1002/pd.6890","url":null,"abstract":"<p><p>In utero interventions are transformative in addressing genetic and anatomic conditions during fetal development. Next generation sequencing enables early genetic testing, playing a pivotal role in prenatal decision-making by supporting risk stratification, precise and timely diagnosis, which directly informs eligibility for fetal surgical and molecular therapies. Early diagnosis benefits both prenatal and postnatal care by guiding prenatal interventions, or selecting cases that might benefit from postnatal preparedness (when early postnatal treatment alters outcomes), and informing counseling (when it significantly influences pregnancy decision-making) and reproductive planning. The integration of artificial intelligence into prenatal care holds the promise of end-to-end solutions that streamline diagnosis, counseling, and access to both standard and experimental in utero interventions. However, significant ethical and social challenges remain, including equity in access to testing and care, incidental findings, variants of uncertain significance, incomplete penetrance and uncertain phenotype prediction of rare variants and disorders. These complexities raise important questions about reproductive autonomy and justice and responsible use of emerging technologies. This review emphasizes the intimate interplay between early genetic testing and in utero interventions, while highlighting the need for equitable, precise, and community-informed practices in prenatal genomic research and care.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-09-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145092437","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Prenatal Metabolomics Analysis and Fetal Congenital Anomalies and Genetic Conditions: A Review of Current Literature. 产前代谢组学分析与胎儿先天性异常和遗传条件:当前文献综述。
IF 2.7 2区 医学
Prenatal Diagnosis Pub Date : 2025-09-19 DOI: 10.1002/pd.6895
Sarah Araji, Onur Turkoglu, Mohamad Ali Maktabi, Tracy Ashby, Ignatia B Van den Veyver
{"title":"Prenatal Metabolomics Analysis and Fetal Congenital Anomalies and Genetic Conditions: A Review of Current Literature.","authors":"Sarah Araji, Onur Turkoglu, Mohamad Ali Maktabi, Tracy Ashby, Ignatia B Van den Veyver","doi":"10.1002/pd.6895","DOIUrl":"https://doi.org/10.1002/pd.6895","url":null,"abstract":"<p><p>Fetal congenital anomalies and genetic disorders complicate 3%-5% of pregnancies and can have a significant impact on pregnancy outcomes. Precise and individualized prenatal diagnosis is crucial for effective counseling and management. The identification of new biomarkers holds promise for enhancing prenatal screening, diagnosis, and prognostic counseling in affected pregnancies. Recently, metabolomics has emerged as a potential adjunct in the interpretation of genetic variants identified through genome-wide sequencing for rare genetic conditions. To assess the potential of metabolomic profiling as a functional assay capable of providing deeper insights into the pathological processes and genetic findings associated with prenatal congenital anomalies, we conducted a comprehensive literature review. We searched MEDLINE (OVID), Embase (Elsevier), Web of Science (Clarivate), and Cochrane Library (Wiley) for relevant studies published through March 2025, focusing on metabolomic profiling of pregnancies affected by fetal structural anomalies or genetic disorders. While metabolomics is a promising tool in prenatal screening and diagnosis, its integration into clinical practice remains limited.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-09-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145092446","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Hemolytic Disease of the Fetus and Newborn: Fetal RHD Genotyping, Targeted Prophylaxis, and Prenatal Therapies. 胎儿和新生儿溶血性疾病:胎儿RHD基因分型、针对性预防和产前治疗。
IF 2.7 2区 医学
Prenatal Diagnosis Pub Date : 2025-09-19 DOI: 10.1002/pd.6891
Emilie Thorup, Steffen Thorsen, Morten Hanefeld Dziegiel, Olav Bjørn Petersen, Frederik Banch Clausen
{"title":"Hemolytic Disease of the Fetus and Newborn: Fetal RHD Genotyping, Targeted Prophylaxis, and Prenatal Therapies.","authors":"Emilie Thorup, Steffen Thorsen, Morten Hanefeld Dziegiel, Olav Bjørn Petersen, Frederik Banch Clausen","doi":"10.1002/pd.6891","DOIUrl":"https://doi.org/10.1002/pd.6891","url":null,"abstract":"<p><p>Hemolytic disease of the fetus and newborn (HDFN) remains a significant concern in prenatal care primarily caused by maternal alloimmunization against fetal red blood cell antigens, most commonly the D antigen. Noninvasive fetal RHD genotyping, used as a screening tool, enables targeted antenatal prophylaxis and has been implemented in several European countries. Despite the success of anti-D prophylaxis programs, D alloimmunization still occurs and addressing these gaps is essential to ensure optimal maternal care. In pregnancies affected by HDFN, Doppler ultrasound assessment of middle cerebral artery peak systolic velocity (MCA-PSV) is the gold standard for detecting fetal anemia, though its reliability following intrauterine blood transfusion (IUT) remains debated. IUT is the primary treatment for severe fetal anemia; however, it remains an invasive procedure with inherent risks, particularly when performed early in pregnancy. Intravenous immunoglobulin (IVIG) has been proposed as a treatment, though its efficacy remains inconclusive. A promising alternative involves monoclonal antibodies blocking the neonatal Fc receptor (FcRn), reducing IgG recycling and placental transfer-with the potential to delay or obviate the need for IUT. This review provides an overview of fetal RHD genotyping in modern obstetric care and discusses prenatal monitoring and treatment strategies for HDFN within high-quality healthcare settings.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-09-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145092504","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Perspectives on Fetal Sex and Prenatal Diagnosis of Differences of Sex Development Among Midwives. 助产士性别发育差异胎儿性别及产前诊断的研究进展。
IF 2.7 2区 医学
Prenatal Diagnosis Pub Date : 2025-09-15 DOI: 10.1002/pd.6889
Madeline Dingle, Sharon Aufox, Emilie K Johnson, Jeffrey S Dungan, Aimee Clark, Katie Abihider, Allison Goetsch Weisman
{"title":"Perspectives on Fetal Sex and Prenatal Diagnosis of Differences of Sex Development Among Midwives.","authors":"Madeline Dingle, Sharon Aufox, Emilie K Johnson, Jeffrey S Dungan, Aimee Clark, Katie Abihider, Allison Goetsch Weisman","doi":"10.1002/pd.6889","DOIUrl":"https://doi.org/10.1002/pd.6889","url":null,"abstract":"<p><strong>Objective: </strong>Cell-free DNA screening has increased prenatal diagnosis/suspicion of fetal differences of sex development (DSD). This study explored how midwives discuss fetal sex and possible DSD with pregnant patients.</p><p><strong>Method: </strong>Active members of the American College of Nurse-Midwives were surveyed electronically to assess terminology use when discussing fetal sex and DSD, terminology influences, and comfort and preparedness levels when discussing a fetal DSD.</p><p><strong>Results: </strong>Most participants (59.1%) reported a preference for use of gender-specific language (e.g., baby boy or baby girl) when disclosing predicted fetal sex results, often reflecting language used by patients. However, use of non-gendered language increased (40.9% vs. 76.2%) with suspicion of fetal DSD. Participants reported discomfort (41.9%) and unpreparedness (48.1%) when disclosing results related to genital variation. Additionally, some participants reported comfort with using terminology that may be inappropriate or outdated when discussing DSD (e.g., hermaphrodite, 16%). While a minority of participants (20.3%) reported having prior education about DSD, most participants (81.7%) desired education on this topic. Notably, participants with prior DSD education consistently expressed higher levels of preparedness for discussing DSD compared with those who did not receive this education.</p><p><strong>Conclusion: </strong>Findings underscore the importance of DSD education for midwives to increase knowledge, comfort, and preparedness in this area of care.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-09-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145070302","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Diagnostic Yield After Postnatal Reanalysis of Prenatal Exome Sequencing Results. 产前外显子组测序结果在产后再分析后的诊断率。
IF 2.7 2区 医学
Prenatal Diagnosis Pub Date : 2025-09-11 DOI: 10.1002/pd.6886
Kate Swanson, Ugur Hodoglugil, Teresa N Sparks, Billie R Lianoglou, Anne M Slavotinek, Mary E Norton
{"title":"Diagnostic Yield After Postnatal Reanalysis of Prenatal Exome Sequencing Results.","authors":"Kate Swanson, Ugur Hodoglugil, Teresa N Sparks, Billie R Lianoglou, Anne M Slavotinek, Mary E Norton","doi":"10.1002/pd.6886","DOIUrl":"https://doi.org/10.1002/pd.6886","url":null,"abstract":"<p><strong>Objective: </strong>Analysis of exome sequencing (ES) relies on correlation with phenotypic features, but fetal phenotyping is often incomplete. The additional yield of postnatal follow-up in cases with negative or inconclusive prenatal ES has not been demonstrated. Our objective was to assess the incremental diagnostic yield of ES reanalysis after initially negative prenatal ES for congenital anomalies incorporating features identified postnatally.</p><p><strong>Methods: </strong>This was a secondary analysis of two prospective cohort studies of ES for fetal anomalies. We included cases in which initial ES utilizing the prenatal phenotype was not diagnostic. The primary outcome was incremental diagnostic yield of ES when incorporating postnatal findings.</p><p><strong>Results: </strong>Eighty-seven cases with negative or inconclusive prenatal ES and postnatal follow-up available were included. Of those, 56 (64%) had new findings postnatally. There was an incremental yield of 2% in the entire cohort, and 7% in those with new postnatal findings. In two additional cases, postnatal evaluation suggested a specific genetic diagnosis that was not detectable with ES.</p><p><strong>Conclusion: </strong>Among pregnancies with fetal anomalies and no clear diagnosis identified by prenatal ES, postnatal follow-up is recommended. Reanalysis of ES results can result in a genetic diagnosis in 7% of cases with new findings.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145041096","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Can Communication Skills Be Taught in a Multidisciplinary Maternal Fetal Care Center? 多学科母婴护理中心能否教授沟通技巧?
IF 2.7 2区 医学
Prenatal Diagnosis Pub Date : 2025-09-08 DOI: 10.1002/pd.6883
Lauren S Crafts, Kassie Merrill-Olver, Cassandra R Duffy, Alireza A Shamshirsaz, Christina Ronai
{"title":"Can Communication Skills Be Taught in a Multidisciplinary Maternal Fetal Care Center?","authors":"Lauren S Crafts, Kassie Merrill-Olver, Cassandra R Duffy, Alireza A Shamshirsaz, Christina Ronai","doi":"10.1002/pd.6883","DOIUrl":"https://doi.org/10.1002/pd.6883","url":null,"abstract":"<p><strong>Objective: </strong>To evaluate a structured communication training for providers performing prenatal counseling for patients presenting to a multidisciplinary maternal fetal care center.</p><p><strong>Method: </strong>Providers who care for pregnant patients with high-risk fetal conditions participated in two half-day virtual training sessions using the VitalTalk methodology. In each session, providers learned the methodology and then participated in role-play with standardized actors. Anonymous pre- and post-surveys were administered electronically via REDCap. Participants were asked about their preparedness and comfort performing communication skills and leading challenging conversations specific to prenatal counseling.</p><p><strong>Results: </strong>24 multidisciplinary providers participated. Clinical and prognostic uncertainty and balancing honesty with hope were the top factors making conversations difficult. Following the course, there was a significant increase in preparedness and comfort to perform all queried skills. Most providers felt a refresher course yearly or every 2-3 years would be helpful.</p><p><strong>Conclusions: </strong>An interactive, structured communication course can improve preparedness and comfort to deliver serious news in a cohort of multidisciplinary providers who care for pregnant patients with high-risk fetal conditions.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-09-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145024100","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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