Prenatal Diagnosis最新文献_第6页

Early-Onset Macrosomia, Advanced Brain Maturation, and Gonadoblastoid Testicular Dysplasia in a Fetus With a PTEN Variant. PTEN变异胎儿的早发性巨大儿、脑成熟晚期和性腺母细胞样睾丸发育不良。

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. 检测NIPT未发现的染色体异常的策略。

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. 孤立性先天性导水管狭窄的治疗和结局：一项单中心回顾性队列研究。

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. 无细胞DNA结果表明马赛克X单体可能来自母亲：对遗传咨询实践和患者体验的影响。

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. 加强无创产前检测：提高45，X预测准确性的新方法。

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. 目前产前诊断的争议2：传统的死后检查仍然是胎儿丢失解剖检查的金标准。

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. 利用人工智能从胎儿超声扫描中提取视频片段，允许对先天性心脏病进行远程第二专家审查。

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

Approaching Universal Prenatal Detection of Significant Cardiovascular Malformations in Nevada. 接近普遍产前检测显著心血管畸形在内华达州。

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2025-02-01 Epub Date: 2024-12-31 DOI: 10.1002/pd.6739

William N Evans, Ruben J Acherman, Katrinka T Kip, Carlos F Luna, Joseph M Ludwick, Robert C Rollins, William J Castillo, John A Alexander, Tina W Kwan, Shilpi Garg, Humberto Restrepo

{"title":"Approaching Universal Prenatal Detection of Significant Cardiovascular Malformations in Nevada.","authors":"William N Evans, Ruben J Acherman, Katrinka T Kip, Carlos F Luna, Joseph M Ludwick, Robert C Rollins, William J Castillo, John A Alexander, Tina W Kwan, Shilpi Garg, Humberto Restrepo","doi":"10.1002/pd.6739","DOIUrl":"10.1002/pd.6739","url":null,"abstract":"Objective: To report our recent experience with prenatal detection of significant cardiovascular malformations (CVMs) in Nevada's state-wide maternal population receiving prenatal care.Methods: We queried our databases for those with significant CVMs diagnosed pre- or postnatally between May 1, 2021, and April 30, 2024. We defined CVMs as those that required, would have required, or will likely require a therapeutic procedure in the first 12 months. Additionally, we included those with atrioventricular and ventriculoarterial discordance and left isomeric situs, both unaccompanied by additional CVMs, and congenital complete heart block. We defined routine prenatal care as obstetric care, which included at least one fetal anatomical survey ultrasound.Results: We identified 390 cases of significant CVMs. Of the 390 cases, 359 (92%) had prenatal care over the three-year observation period, with prenatal detection rates for the three 12-month intervals: 76% (87/115), 87% (94/108), and 95% (129/136) respectively (p < 0.001 by chi-square). A total of 310 prenatal diagnoses were made from comprehensive fetal echocardiograms performed on 8397 pregnant women at maternal-fetal-medicine centers.Conclusion: To our knowledge, these results represent the highest prenatal detection rate for significant CVMs, in a state-wide maternal population in the United States.","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":"196-203"},"PeriodicalIF":2.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142910301","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

A Missense Variant in KIF14 Results in Two Gene Isoforms by Affecting Normal Gene Splicing. KIF14错义变异通过影响正常基因剪接导致两种基因亚型。

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2025-02-01 Epub Date: 2025-01-07 DOI: 10.1002/pd.6744

Dorin Trigubov, Vered Ofen-Glassner, Bar Levy, Adi Mory, Igal Wolman, Yuval Yaron, Roee Birnbaum, Alina Kurolap

引用次数: 0