Prenatal Diagnosis最新文献

Serum Folate Levels in Reproductive Age Women: Implications for Prevention of Fetal Neural Tube Defects. 育龄妇女血清叶酸水平：预防胎儿神经管缺陷的意义。

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2025-04-08 DOI: 10.1002/pd.6787

Geralyn M Lambert-Messerlian, C James Sung, Glenn E Palomaki

引用次数: 0

Brain Abnormalities in Prenatally Diagnosed Rubinstein-Taybi Syndrome. 产前诊断为鲁宾斯坦-泰比综合征的大脑异常。

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2025-04-07 DOI: 10.1002/pd.6786

Laurence S Carmant, Elka Miller, Susan Blaser, Patrick Shannon, Karen Chong, David Chitayat, Shiri Shinar

引用次数: 0

Prenatal Ultrasound Observations and Postnatal Manifestations Linked to PIGW Variants. 与PIGW变异相关的产前超声观察和产后表现。

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2025-04-03 DOI: 10.1002/pd.6788

Xin Chen, Jing Chen, Kunkun Qiang, Hong Luo

{"title":"Prenatal Ultrasound Observations and Postnatal Manifestations Linked to PIGW Variants.","authors":"Xin Chen, Jing Chen, Kunkun Qiang, Hong Luo","doi":"10.1002/pd.6788","DOIUrl":"https://doi.org/10.1002/pd.6788","url":null,"abstract":"Objective: We present a case of a fetus from a Chinese family. Ultrasound examination during the second trimester revealed increased fetal abdominal circumference, enlarged liver, tent-like mouth, frequent tongue movement, micro-fist-like hands in fixed positions, hydronephrosis with bilateral ectopic ureteral openings, scrotal echoes visible in the external genitalia, no significant penile echo, and polyhydramnios. To determine the genetic cause of this fetus, we performed a prenatal diagnosis.Method: Trio whole-exome sequencing (trio-WES) was performed on the fetus and his parents to identify the genetic cause, and subsequent verification was performed by Sanger sequencing.Results: A compound heterozygous variation in the PIGW gene was identified by trio-WES. The frameshift variant (NM_178517.5: c.617_620del, p.Val206fs) was inherited from the unaffected mother, and the novel missense variant (NM_178517.5: c.842T>G, p.Leu281Arg) was inherited from the unaffected father.Conclusion: To our knowledge, the current prenatal reports on PIGW remain extremely limited. Our report expands the prenatal phenotype associated with this gene, such as the first detection of abnormal fetal activities in utero, including frequent tongue movements and fixed hand positions.","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-04-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143780701","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 an Animation Improve Parents' Knowledge and How Does It Compare to Written Information? Development and Survey Evaluation of an Animation for Parents About Prenatal Sequencing. 动画能提高父母的知识吗？它与书面信息相比如何？产前测序家长动画制作及调查评价。

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2025-04-02 DOI: 10.1002/pd.6792

Morgan Daniel, Hannah McInnes-Dean, Wing Han Wu, Jane Fisher, Caroline Lafarge, Kerry Leeson-Beevers, Celine Lewis, Sophie Peet, Dagmar Tapon, Sarah L Wynn, Lyn S Chitty, Melissa Hill, Michelle Peter

{"title":"Can an Animation Improve Parents' Knowledge and How Does It Compare to Written Information? Development and Survey Evaluation of an Animation for Parents About Prenatal Sequencing.","authors":"Morgan Daniel, Hannah McInnes-Dean, Wing Han Wu, Jane Fisher, Caroline Lafarge, Kerry Leeson-Beevers, Celine Lewis, Sophie Peet, Dagmar Tapon, Sarah L Wynn, Lyn S Chitty, Melissa Hill, Michelle Peter","doi":"10.1002/pd.6792","DOIUrl":"https://doi.org/10.1002/pd.6792","url":null,"abstract":"Objective: To develop and evaluate an animation for parents about prenatal sequencing.Methods: A total of 428 participants who had been pregnant, or whose partner had been pregnant, in the past 24 months. Parents, patient organisation representatives and clinicians co-designed the animation describing prenatal sequencing (pS). Participants were semi-randomly assigned to receive one of three interventions (leaflet, animation or both) and answered questions assessing their self-perceived and objective knowledge before (T1) and after the intervention (T2). Satisfaction with and ease of understanding of the information was assessed at T2.Results: Survey respondents' (leaflet [n = 130], animation [n = 153] and both leaflet and animation [n = 145]) self-perceived understanding and knowledge of genetics and objective knowledge of pS increased after all interventions. The leaflet and animation were equally effective in improving the objective knowledge of pS (F(2, 421) = 2.48, p = 0.085). The animation was viewed positively. Preferences for information format were mixed.Conclusion: Animated and written information can improve knowledge and understanding of pS. Our animation expands the available information resources for parents offered pS. Further research should evaluate the utility of the animation in a clinical setting.","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143773114","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

Non-Invasive Prenatal Testing Results, Nuchal Translucency Size, and Second Trimester Resolution Modify First Trimester Cystic Hygroma Outcomes. 无创产前检查结果、颈部半透明大小和妊娠中期分辨率改变妊娠早期囊性水肿的预后。

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2025-04-02 DOI: 10.1002/pd.6791

Michelle Joy Wang, Maria Bazan, Davia Schioppo, Karen Marchand, Millie A Ferrés, Yinka Oyelese, Barbara O'Brien

{"title":"Non-Invasive Prenatal Testing Results, Nuchal Translucency Size, and Second Trimester Resolution Modify First Trimester Cystic Hygroma Outcomes.","authors":"Michelle Joy Wang, Maria Bazan, Davia Schioppo, Karen Marchand, Millie A Ferrés, Yinka Oyelese, Barbara O'Brien","doi":"10.1002/pd.6791","DOIUrl":"https://doi.org/10.1002/pd.6791","url":null,"abstract":"Objectives: The aim of our study was to describe outcomes of fetuses with cystic hygromas (CH) based on results of non-invasive prenatal testing (NIPT), nuchal translucency (NT) size, and spontaneous hygroma regression.Methods: This was a retrospective cohort study of all patients with a CH diagnosed on first trimester ultrasound at our institution over a 9-year period. The primary outcomes were pathogenic genetic abnormalities, structural malformations and perinatal loss. Secondary outcomes included pregnancy termination, live birth, and a composite of primary outcomes.Results: Of 294 fetuses with CH, 184 (64%) had a genetic abnormality, and among the fetuses with no known genetic diagnosis, 26 (25%) had at least one structural anomaly. Low risk NIPT result was associated with a 19% (13/71) residual risk of aneuploidy, copy number variant, or other pathogenic genetic finding and the frequency of all adverse outcomes rose with increasing NT size. Finally, of 31 cases of expectantly managed CH cases that resolved in the second trimester, only 4 (13%) had a genetic abnormality.Conclusion: NIPT results, nuchal translucency size, and early resolution are modifiers in the outcomes associated with CH in the first trimester.","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143773119","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

Observed/Expected Lung-To-Head Ratio and Total Lung Volumes That Identify Fetuses With Severe Congenital Diaphragmatic Hernia in a North American Fetal Center. 北美胎儿中心观察到的/预期的肺头比和总肺容量鉴别严重先天性膈疝胎儿。

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2025-04-01 DOI: 10.1002/pd.6789

Juliana Gebb, Sabrina Flohr, Leny Mathew, Edward R Oliver, Kiersten Barr, Taryn Gallagher, Thomas A Reynolds, Anne Ades, Natalie Rintoul, K Taylor Wild, Emily Partridge, Julie S Moldenhauer, Holly L Hedrick

{"title":"Observed/Expected Lung-To-Head Ratio and Total Lung Volumes That Identify Fetuses With Severe Congenital Diaphragmatic Hernia in a North American Fetal Center.","authors":"Juliana Gebb, Sabrina Flohr, Leny Mathew, Edward R Oliver, Kiersten Barr, Taryn Gallagher, Thomas A Reynolds, Anne Ades, Natalie Rintoul, K Taylor Wild, Emily Partridge, Julie S Moldenhauer, Holly L Hedrick","doi":"10.1002/pd.6789","DOIUrl":"https://doi.org/10.1002/pd.6789","url":null,"abstract":"Objective: To define the ultrasound observed/expected lung-to-head ratio (O/E LHR) and magnetic resonance imaging (MRI) observed/expected total lung volume (O/E TLV) cut-offs associated with survival and lack of extracorporeal membrane oxygenation (ECMO) utilization to determine the most severe cohort that may benefit from fetal intervention.Methods: Retrospective review of patients with a prenatal diagnosis of isolated left or right congenital diaphragmatic hernia (L CDH, R CDH) seen and delivered at our level III fetal center from January 2013-July 2023. Data were extracted from our clinical outcome database. Characteristics of survivors and non-survivors were compared for both the L CDH and R CDH groups. For both O/E LHR and O/E TLV, the Youden criteria were then used to determine a good sensitivity and specificity for predicting survival and ECMO utilization for L and R CDH, respectively, in Receiver Operator Characteristic (ROC) curve analysis.Results: 340 patients were included in the study, including 283 (83.2%) with L CDH and 57 (16.8%) with R CDH. The median [interquartile range, IQR] O/E LHR for L and R CDH was 37.9 [28.7-47.3] and 49.0 [40.0-64.5], respectively. The median O/E TLV for L and R CDH was 36.0 [28.0-48.0] and 25.3 [23.6-29.8], respectively. For survival, an O/E LHR of 28.1% and O/E TLV of 34.0% and an O/E LHR of 46.8% and O/E TLV of 17.6% were the best cut-offs for L and R CDH, respectively. For ECMO utilization, an O/E LHR of 32.8% and O/E TLV of 35.3% and an O/E LHR of 47.0% and O/E TLV of 22.0% were the best cut-offs for L and R CDH, respectively.Conclusion: We report the best ultrasound O/E LHR and MRI TLV cut-offs associated with survival and lack of ECMO utilization in our cohort.","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143764361","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

Assessment of Fetal Cardiac Geometry and Systolic Function in Fetuses With Ventricular Septal Defect During the Second Trimester Using Fetal Heart Quantification Technology. 利用胎心量化技术评估妊娠中期室间隔缺损胎儿心脏几何形状和收缩功能。

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2025-04-01 DOI: 10.1002/pd.6783

Li Hou, Dongmei Zhang, Chunrong Li, Liuying Zhou, Shiyue Peng, Lixue Yin, Tongyong Luo

{"title":"Assessment of Fetal Cardiac Geometry and Systolic Function in Fetuses With Ventricular Septal Defect During the Second Trimester Using Fetal Heart Quantification Technology.","authors":"Li Hou, Dongmei Zhang, Chunrong Li, Liuying Zhou, Shiyue Peng, Lixue Yin, Tongyong Luo","doi":"10.1002/pd.6783","DOIUrl":"https://doi.org/10.1002/pd.6783","url":null,"abstract":"Objective: This study aimed to assess the impact of ventricular septal defect (VSD) on fetal cardiac geometry and systolic function during the second trimester using Fetal Heart Quantification (Fetal HQ) technology.Methods: In this prospective study, 91 fetuses with isolated VSD and 91 gestational age-matched healthy controls were evaluated. Using the GE Voluson E10 ultrasound system and Fetal HQ software, cardiac parameters such as global sphericity index (GSI), global longitudinal strain (GLS), ejection fraction (EF), and fractional area change (FAC) were measured. Segmental end-diastolic diameters (EDD) and sphericity indices (SI) for both ventricles were analyzed. Statistical analyses compared groups and assessed correlations between VSD size and left ventricular function.Results: The VSD group displayed significant reductions in left ventricular segmental EDD and increases in right ventricular SI, reflecting localized geometric changes. Left ventricular GLS, EF, FAC, and stroke volume were notably reduced in the VSD group, indicating compromised function. VSD size negatively correlated with left ventricular GLS and FAC.Conclusion: VSD significantly affects left ventricular geometry and function, with larger defects showing greater impairment. Fetal HQ technology effectively characterizes these changes, aiding early diagnosis and enabling personalized perinatal management.","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143764446","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

Commentary on: "Fetal Therapy for Severe Drug-Resisted Tachyarrhythmia With Progressive Hydrops by Fetoscopic Transesophageal Pacing: A Successful Attempt in Single Chinese Fetal Medicine Center". 评论：“经食管胎镜起搏胎儿治疗进行性严重耐药性心动过速：单一中国胎儿医学中心的成功尝试”。

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2025-03-30 DOI: 10.1002/pd.6790

Anita J Moon-Grady, Edgar Jaeggi

引用次数: 0

Outcomes Following Fetoscopic Repair of Myelomeningocele: A Prospective Single-Center Experience. 胎儿镜修复脊髓脊膜膨出的结果：一项前瞻性的单中心经验。

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2025-03-25 DOI: 10.1002/pd.6781

Vincent Duron, Russell Miller, Neil Feldstein, Nicholas Schmoke, Yeu Sanz Wu, Tyler Shirel, Laurence Ring, Ruth Landau, Hana Azizi, Rosalie Ingrassia, Noelle Breslin, Lynn Simpson

{"title":"Outcomes Following Fetoscopic Repair of Myelomeningocele: A Prospective Single-Center Experience.","authors":"Vincent Duron, Russell Miller, Neil Feldstein, Nicholas Schmoke, Yeu Sanz Wu, Tyler Shirel, Laurence Ring, Ruth Landau, Hana Azizi, Rosalie Ingrassia, Noelle Breslin, Lynn Simpson","doi":"10.1002/pd.6781","DOIUrl":"https://doi.org/10.1002/pd.6781","url":null,"abstract":"Objective: Prenatal repair of myelomeningocele (MMC) improves fetal outcomes; however, open uterine surgery has associated morbidities. We report our institutional outcomes following laparotomy-assisted fetoscopic MMC repair.Methods: A prospective observational study, including a 1-year follow-up period, was conducted from April 2018 to March 2024. Similar study considerations from the 2011 Management of Myelomeningocele Study (MOMS) and 2019 MOMS Plus study were applied. Laparotomy-assisted repair utilized an extended Pfannenstiel incision and vertical midline fascial incision to exteriorize the uterus for trocar placement. Primary outcomes were ventriculoperitoneal (VP) shunt at 12 months or perinatal death. Secondary outcomes included select maternal and neonatal outcomes.Results: Of 39 qualifying patients, 10 underwent repair at a median GA of 25w4d (IQR 25w0d-26w6d). All pregnancies resulted in live births in a median GA of 36w1d (IQR 32w2d-37w0d). Preterm premature rupture of membranes was observed (PPROM) in five patients. Four patients delivered vaginally without complications. All trocar sites were noted to be intact at the time of cesarean deliveries. Two neonates required revision of MMC closure after birth. One patient required a VP shunt placement at 4 months of age.Conclusion: Early results at our center demonstrate that laparotomy-assisted fetoscopic MMC repair is a safe option for qualified patients.","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143711051","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

Whole Genome Sequencing in Prenatal Diagnostics: The Danish Approach to Guideline Formation and Implementation Within Public Healthcare. 产前诊断中的全基因组测序：丹麦公共卫生保健指南形成和实施的方法。

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2025-03-23 DOI: 10.1002/pd.6780

Ida Vogel, Lotte Andreasen, Marie Balslev-Harder, Naja Becher, Anja Ernst, Kasper Gadsbøll, Tina Duelund Hjortshøj, Marie Skov Hvidbjerg, Martin Larsen, Stina Lou, Ida Charlotte Bay Lund, Lars Henning Pedersen, Laura Kirstine Sønderberg Roos, Lene Sperling, Lone Sunde, Pernille Mathiesen Tørring, Cathrine Vedel, Olav Bjørn Petersen

{"title":"Whole Genome Sequencing in Prenatal Diagnostics: The Danish Approach to Guideline Formation and Implementation Within Public Healthcare.","authors":"Ida Vogel, Lotte Andreasen, Marie Balslev-Harder, Naja Becher, Anja Ernst, Kasper Gadsbøll, Tina Duelund Hjortshøj, Marie Skov Hvidbjerg, Martin Larsen, Stina Lou, Ida Charlotte Bay Lund, Lars Henning Pedersen, Laura Kirstine Sønderberg Roos, Lene Sperling, Lone Sunde, Pernille Mathiesen Tørring, Cathrine Vedel, Olav Bjørn Petersen","doi":"10.1002/pd.6780","DOIUrl":"https://doi.org/10.1002/pd.6780","url":null,"abstract":"Objective: To describe the implementation of whole genome sequencing (WGS) in prenatal diagnostics and outline the national guideline system facilitating this.Methods: Clinical guidelines for WGS in prenatal diagnostics were developed and implemented by the Danish Fetal Medicine Society.Results: Guidelines were developed by expert consensus following a review of 75 studies. Diagnostic yield served as a key factor in prioritizing WGS for various phenotypes, improving diagnostic accuracy and informing clinical decisions. Phenotypes for WGS include nuchal translucency ≥ 6.0 mm, multiple anomalies, skeletal dysplasia, neuromuscular diseases, non-immune hydrops fetalis, central nervous system malformations, congenital diaphragmatic hernia and severe fetal growth restriction (< 3 SDs not explained by placental insufficiency). Small regional variations exist in indications, bioinformatics, and funding, but WGS is now routinely used nationwide for these indications.Conclusion: The Danish Fetal Medicine Society's guideline development, emphasizing diagnostic yield and gradual implementation, has supported the relatively uniform integration of WGS into prenatal diagnostics.","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-03-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143693013","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