Prenatal Diagnosis最新文献_第5页

A Qualitative Study of Pregnant Patient Perspectives on Genetic Privacy of Cell-Free DNA and Optimal Design of a Prenatal Genetics Video-Based Educational Intervention. 关于孕妇对无细胞 DNA 遗传隐私的看法以及产前遗传学视频教育干预最佳设计的定性研究。

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2025-02-25 DOI: 10.1002/pd.6769

Margaret M Thorsen, Rose C Mahoney, Christian Parobek, Paola C Jiménez Muñoz, Stephanie Nunez, Adam K Lewkowitz, Carolyn Slack, Melissa L Russo

{"title":"A Qualitative Study of Pregnant Patient Perspectives on Genetic Privacy of Cell-Free DNA and Optimal Design of a Prenatal Genetics Video-Based Educational Intervention.","authors":"Margaret M Thorsen, Rose C Mahoney, Christian Parobek, Paola C Jiménez Muñoz, Stephanie Nunez, Adam K Lewkowitz, Carolyn Slack, Melissa L Russo","doi":"10.1002/pd.6769","DOIUrl":"10.1002/pd.6769","url":null,"abstract":"Objective: To receive feedback on the design and content of a prenatal genetics video tool and explore pregnant patients' views on genetic information privacy.Methods: Video education covered prenatal aneuploidy screening and diagnosis and genetic privacy of cell-free DNA (cfDNA). English or Spanish-speaking adult patients, presenting for pregnancy dating ultrasound at a health center or clinic were eligible to answer a demographic questionnaire and view video education. Virtual, in-depth semi-structured interviews were then performed. Thematic analysis of transcripts was performed; all were double coded.Results: Twenty participants completed interviews, achieving data saturation.Demographics: median age 30.5 years, 50% Spanish-speaking, 55% White, 60% Hispanic, 65% had a high-school degree or less, 60% parous. Themes: The intervention was acceptable, accessible, and aided in decision-making. Tangible adjunctive resources were desired. Content misunderstandings included absolute risk of diagnostic testing and perception of aneuploidy as hereditary. Genetic privacy played a minor role in decision-making. Participants were amenable to data-sharing with third parties, but wanted to be informed. They misunderstood that genetic data could never truly be de-identified. No differences were found in opinions on sharing fetal versus maternal data or with academic versus private institutions.Conclusion: Video education was acceptable and comprehensible, yet participants showed limited awareness of cfDNA privacy implications.","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-02-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143503639","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 Diagnosis of Congenital Paraesophageal Hernia With Gastric Volvulus and Postnatal FBN1 Mutation Confirmation.

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2025-02-24 DOI: 10.1002/pd.6767

Spencer C Darveau, Georges Sylvestre, Sarah J Weingarten

引用次数: 0

Early-Onset Macrosomia, Advanced Brain Maturation, and Gonadoblastoid Testicular Dysplasia in a Fetus With a PTEN Variant.

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2025-02-23 DOI: 10.1002/pd.6765

Danielle C Lynch, Anna F Lee, Alison M R Castle

引用次数: 0

Strategies to Detect Chromosomal Anomalies Not Identified by NIPT.

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2025-02-21 DOI: 10.1002/pd.6755

Fergus Scott, May Phoo Han, Ana Elizabeth Gomes de Melo Tavares Ferreira, James Elhindi, Andrew C McLennan

{"title":"Strategies to Detect Chromosomal Anomalies Not Identified by NIPT.","authors":"Fergus Scott, May Phoo Han, Ana Elizabeth Gomes de Melo Tavares Ferreira, James Elhindi, Andrew C McLennan","doi":"10.1002/pd.6755","DOIUrl":"https://doi.org/10.1002/pd.6755","url":null,"abstract":"Introduction: Genome-wide non-invasive prenatal testing (gwNIPT) has screening limitations for detectable chromosomal conditions and cannot detect microdeletions/microduplications (MD) or triploidy. Thickened nuchal translucency (NT) only detects around 10% of these cases.Methods: A 4-year retrospective study of singleton pregnancies undergoing first-line gwNIPT screening with subsequent CVS or amniocentesis. All MD cases, with or without gwNIPT screening, were also analyzed.Results: Among 919 pregnancies with gwNIPT and invasive testing, 338 had a single chromosomal abnormality, with 9 false negative gwNIPT results (2.9%) and 26 undetectable abnormalities (18 MD, 8 triploidy) (7.7%). Twelve cases had a dual chromosomal abnormality and 4 returned a low-risk gwNIPT result. Only three (9%) of the \"missed cases\" had a large NT and two of these also had a structural abnormality. Approximately 90% of chromosomal anomalies missed by gwNIPT were detected by invasive prenatal testing indicated by one or more of the following: failed NIPT (9%), low PAPP-A (12%), early growth restriction (37%) and structural anomalies at pre-NIPT, 13- or 20-week ultrasounds (51%).Conclusion: Most chromosomal abnormalities missed or unable to be found by gwNIPT are detected due to growth restriction or structural anomalies, not an enlarged NT. Failed NIPT and low PAPP-A concentrations contributed to detection.","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-02-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143472934","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

Management and Outcomes in Isolated Congenital Aqueductal Stenosis: A Single-Center Retrospective Cohort Study.

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2025-02-20 DOI: 10.1002/pd.6764

Enaja V Sambatur, Shohra Qaderi, Matheus D Soldatelli, Jonathan Castillo, Heidi Castillo, Weston T Northam, Benjamin C Warf, Ramen H Chmait, Eyal Krispin, Patricia Ellen Grant, Alireza A Shamshirsaz

{"title":"Management and Outcomes in Isolated Congenital Aqueductal Stenosis: A Single-Center Retrospective Cohort Study.","authors":"Enaja V Sambatur, Shohra Qaderi, Matheus D Soldatelli, Jonathan Castillo, Heidi Castillo, Weston T Northam, Benjamin C Warf, Ramen H Chmait, Eyal Krispin, Patricia Ellen Grant, Alireza A Shamshirsaz","doi":"10.1002/pd.6764","DOIUrl":"https://doi.org/10.1002/pd.6764","url":null,"abstract":"Objective: Our objective was to investigate prenatal imaging findings, clinical course and outcomes associated with isolated congenital aqueductal stenosis (ICAS).Method: A retrospective study was conducted in the period of 2010-2023, including patients with ICAS confirmed postnatally who were imaged prenatally with ≥ 1 year of follow-up. Patients with additional anomalies (structural or genetic) were excluded. Neurodevelopmental outcomes were verified by pediatricians, and imaging underwent standardized measurement by a neuroradiologist.Results: Twenty-one patients were prenatally diagnosed with ICAS, at a median gestational age (GA) of 19.7 weeks. Overall, 13/14 patients exhibited a fronto-occipital horn ratio (FOHR) > 0.5, indicating clinically significant ventriculomegaly in initial MRI at 18-32 weeks GA. There was an increase in the median size of the third ventricular coronal width from 7 mm in prenatal imaging to 12 mm in postnatal imaging (p = 0.01). Twenty patients (95.2%) required shunting or endoscopic third ventriculostomy and bilateral choroid plexus cauterization (ETV/CPC), with 10 undergoing multiple CSF diversion procedures during follow-up. Among the study group, nine patients experienced epilepsy, 6/8 aged < 5 years exhibited global developmental delay, and 6/12 aged ≥ 5 years required special education services.Conclusion: Our findings indicate a progressive increase in prenatal ventricular sizes, with most children requiring hydrocephalus treatment and experiencing neurodevelopmental impairment.","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143468779","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

Cell-Free DNA Results Indicating Mosaic Monosomy X of Likely Maternal Origin: Impact on Genetic Counseling Practices and Patient Experiences.

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2025-02-15 DOI: 10.1002/pd.6760

Audrey McBride, Ashley Cannon, Siddharth Prakash, Aaron W Roberts, Angela Seasely, Anna C E Hurst, Laura Hendon

{"title":"Cell-Free DNA Results Indicating Mosaic Monosomy X of Likely Maternal Origin: Impact on Genetic Counseling Practices and Patient Experiences.","authors":"Audrey McBride, Ashley Cannon, Siddharth Prakash, Aaron W Roberts, Angela Seasely, Anna C E Hurst, Laura Hendon","doi":"10.1002/pd.6760","DOIUrl":"https://doi.org/10.1002/pd.6760","url":null,"abstract":"Objective: To investigate the current genetic counseling practices involving a cfDNA result indicating mosaic monosomy X of likely maternal origin, and to better understand the perspectives of patients who have received this result.Method: A total of 60 prenatal genetic counselors completed surveys about their experiences with this result, cfDNA consenting practices, and management practices. In addition, qualitative interviews were conducted with 5 patients to gain insight into their experiences with result disclosure and follow-up care.Results: 95% of genetic counselors reported feeling prepared to counsel on these results. However, responses to current practices varied. Of the genetic counselors surveyed, 62% state that their approach to management does not differ if the patient is symptomatic. Responses indicated 95% of genetic counselors ordered a karyotype for maternal diagnostic testing, and 30% ordered a chromosomal microarray. Interviews of patients found that 100% were not aware of the possibility of receiving an incidental finding from cfDNA. Patients reported feeling surprised, confused, and worried when they received their results.Conclusion: The majority of genetic counselors report feeling confident in counseling these results, but their current practices vary. Patients who receive these results are found to have a difficult time adapting due to feeling surprised and confused. Based on these findings, we believe professional practice guidelines are needed to establish clear management recommendations, which in turn would hopefully decrease patient and provider stress.","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-02-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143425918","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

Enhancing Non-Invasive Prenatal Testing: A Novel Approach to Improve 45,X Prediction Accuracy.

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2025-02-15 DOI: 10.1002/pd.6756

Xiaoying Lin, Cheng Huang, Li Chen, Bole Du, Yulai Guo, Mi Zeng, Sheng Li, Weicheng Xia, Jiaxue Wei

{"title":"Enhancing Non-Invasive Prenatal Testing: A Novel Approach to Improve 45,X Prediction Accuracy.","authors":"Xiaoying Lin, Cheng Huang, Li Chen, Bole Du, Yulai Guo, Mi Zeng, Sheng Li, Weicheng Xia, Jiaxue Wei","doi":"10.1002/pd.6756","DOIUrl":"https://doi.org/10.1002/pd.6756","url":null,"abstract":"Objective: Traditional non-invasive prenatal testing (NIPT) for sex chromosome aneuploidies (SCAs) has a higher risk of false positives, particularly for 45,X. This study introduces an innovative NIPT analysis pipeline to minimize false positives in 45,X screening.Methods: We included 39 cases from the NIPT records of 15,882 pregnancies, including 20 with 45,X and 19 controls, and performed standard NIPT and size-selection NIPT tests. Based on the two NIPT results, the Zs-score was used to determine aneuploidy status: > 3 indicated 45,X, and -3 to 3 suggested a negative result. We analyzed the change in the positive predictive value (PPV) of NIPT for 45,X.Results: By integrating data from two NIPT experiments and monitoring sex chromosome variations, the Zs of the control group ranged from -3 to 3, indicating no 45,X. In the NIPT-45,X group, 9 out of 20 cases had Zs > 3, whereas the remaining 11 cases had Zs between -3 and 3. The PPV of NIPT for 45,X improved from 25.00% (5/20) to 55.56% (5/9), and 73.33% (11/15) of the initial false positives were corrected by our method.Conclusion: Our advanced analysis process significantly improved the PPV of NIPT for 45,X and reduced the incidence of false positives.","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-02-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143425920","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

Current Controversies in Prenatal Diagnosis 2: Conventional Postmortem Examination Remains the Gold Standard for the Anatomical Examination of Fetal Loss.

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2025-02-06 DOI: 10.1002/pd.6754

J Ciaran Hutchinson, Lorraine Potocki, Ignatia B Van den Veyver

{"title":"Current Controversies in Prenatal Diagnosis 2: Conventional Postmortem Examination Remains the Gold Standard for the Anatomical Examination of Fetal Loss.","authors":"J Ciaran Hutchinson, Lorraine Potocki, Ignatia B Van den Veyver","doi":"10.1002/pd.6754","DOIUrl":"https://doi.org/10.1002/pd.6754","url":null,"abstract":"A comprehensive postmortem examination is an essential component of a work-up after stillbirth. Its findings can support accurate counseling of parents about causes and risk of recurrence. It also supports providers' decisions about most appropriate testing and management plans for future pregnancy to prevent recurrence. Informing parents about fetal autopsy and obtaining their consent is challenging, and conducting a fetal autopsy requires expertise that is, not universally available. Newer non-invasive or minimally invasive methods such as postmortem MRI and targeted biopsies can replace or supplement autopsies, but one must recognize that expertise in these methods is likewise not broadly available. This prompts the question whether a conventional postmortem examination should remain the gold standard for the anatomical examination of fetal loss. This report summarizes the \"for\" and \"against\" arguments made by two experts during a debate at the 28th International Conference on Prenatal Diagnosis and Therapy. Arguments favoring comprehensive fetal autopsy include the need to obtain the most complete and accurate information about the cause of the stillbirth. Arguments in favor of less invasive post-mortem examinations using other technologies include sufficiency in many instances and a more equitable and cost-effective approach to postmortem examination. While both debaters weighed the balance of these conflicting arguments differently, they agreed that more research in this area is needed.","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-02-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143365429","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

Video Clip Extraction From Fetal Ultrasound Scans Using Artificial Intelligence to Allow Remote Second Expert Review for Congenital Heart Disease.

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2025-02-06 DOI: 10.1002/pd.6757

Thomas G Day, Lorenzo Venturini, Samuel F Budd, Alfonso Farruggia, Robert Wright, Jackie Matthew, Vita Zidere, Trisha Vigneswaran, Ilaria Bo, Alex Savis, Jo Wolfenden, John Simpson, Jo Hajnal, Bernhard Kainz, Reza Razavi

{"title":"Video Clip Extraction From Fetal Ultrasound Scans Using Artificial Intelligence to Allow Remote Second Expert Review for Congenital Heart Disease.","authors":"Thomas G Day, Lorenzo Venturini, Samuel F Budd, Alfonso Farruggia, Robert Wright, Jackie Matthew, Vita Zidere, Trisha Vigneswaran, Ilaria Bo, Alex Savis, Jo Wolfenden, John Simpson, Jo Hajnal, Bernhard Kainz, Reza Razavi","doi":"10.1002/pd.6757","DOIUrl":"https://doi.org/10.1002/pd.6757","url":null,"abstract":"Objective: To use artificial intelligence (AI) to automatically extract video clips of the fetal heart from a stream of ultrasound video, and to assess the performance of these when used for remote second review.Methods: Using a dataset from a previous clinical trial of AI to assist in fetal ultrasound scanning, AI was used to automatically extract video clips of the fetal heart from ultrasound scans of 48 fetuses in which the diagnosis was known: 24 normal and 24 with congenital heart disease (CHD). These, and manually still saved images, were shown in a random order to expert clinicians, who were asked to detect cardiac abnormalities.Results: The initial manual scan had a sensitivity of 0.792 and specificity of 0.917 for detecting CHD in this cohort. The addition of second review improved the sensitivity to 0.975 using video clips, which was significantly higher than using still images (0.892, p = 0.002). There was a significant drop in specificity to 0.767 and 0.833 (p < 0.001) for the video and still method, respectively, which were statistically similar to each other (p = 0.117). The median review time was 1.0 min (IQR 0.71) for the still images, and 3.75 min (IQR 3.12) for the AI-generated video clips.Conclusion: AI can be used to automatically extract fetal cardiac video clips, and these can be used for remote second review to improve detection rates. Video clips are superior to still images, but both methods result in a significant drop in specificity.","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-02-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143365445","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

Feasibility Versus Success: Bridging the Evidence Gap in Endoscopic Third Ventriculostomy for Fetal Interventions. 可行性与成功：弥合第三脑室内窥镜造瘘胎儿干预的证据差距。

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2025-02-01 Epub Date: 2024-12-23 DOI: 10.1002/pd.6716

Shohra Qaderi, Weston T Northam, Benjamin C Warf, Alireza A Shamshirsaz

引用次数: 0