Prenatal Diagnosis最新文献_第5页

Screening Positive for Rare Autosomal Aneuploidies Increases Frequency of Adverse Pregnancy Outcomes and Alters Clinical Management. 筛查罕见常染色体非整倍体阳性增加不良妊娠结局的频率和改变临床管理。

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2025-09-01 Epub Date: 2025-03-23 DOI: 10.1002/pd.6776

Devika Chawla, D Claire Miller, Summer Pierson, Lyuba Popadic, Francesca Devine, Dallas Reed, Katherine Johansen Taber

{"title":"Screening Positive for Rare Autosomal Aneuploidies Increases Frequency of Adverse Pregnancy Outcomes and Alters Clinical Management.","authors":"Devika Chawla, D Claire Miller, Summer Pierson, Lyuba Popadic, Francesca Devine, Dallas Reed, Katherine Johansen Taber","doi":"10.1002/pd.6776","DOIUrl":"10.1002/pd.6776","url":null,"abstract":"Objective: Outcomes in pregnancies with rare autosomal aneuploidies (RAAs) are poorly characterized, with most studies having small sample sizes. Here, we describe outcomes and management in a large cohort of pregnancies that screened positive for an RAA (RAA+).Methods: Results of prenatal cell-free DNA screening were linked to de-identified insurance claims data. Diagnosis and procedure codes were used to estimate pregnancy outcomes and management. Relevant covariates in comparative analyses were adjusted using propensity-score matching. Outcomes were statistically compared using Mantel-Haenszel and McNemar's tests.Results: Among 682 RAA+ pregnancies, the rate of live birth was significantly lower (56.7% vs. 78.7%; p < 0.001), and the rates of miscarriage and preterm birth were significantly higher (14.8% vs. 3.2%, p < 0.001; 18.5% vs. 8.9%, p < 0.001; respectively), compared to pregnancies with RAA- results. In pregnancies that screened positive for a rare autosomal trisomy (RAT+) and in which the RAT+ results were known, ultrasounds (mean: 3.7 vs. 2.5, p = 0.002), and pregnancy-specific visits (mean: 6.6 vs. 5.1; p = 0.007) were more frequent compared with pregnancies in which the RAT+ result was unknown.Conclusion: Pregnancies with RAA+ results had higher rates of adverse outcomes compared with those with RAA- results, and awareness of RAA+ results was associated with more intensive monitoring.","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":"1265-1276"},"PeriodicalIF":2.7,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12435144/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143693006","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Antenatal Pulmonary Hypoplasia Expands the Variety of Phenotypes Associated With MED12-Related Disorders. 产前肺发育不全扩大了与med12相关疾病相关的表型多样性。

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2025-08-30 DOI: 10.1002/pd.6881

Vijaya Ramachandran, Natalie J Chandler, Alexander Gibbs, Elspeth Whitby, Ruth Braham, Joseph Christopher, Sarju G Mehta

引用次数: 0

Novel Fetal Phenotype for Pan-Chung-Bellen Syndrome Including Congenital Diaphragmatic Hernia. 包括先天性膈疝在内的泛中-贝伦综合征的新型胎儿表型。

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2025-08-27 DOI: 10.1002/pd.6879

Nimerta Sandhu, Noura Osman, Nina Boe, Herman Hedriana, Krishna Singh

引用次数: 0

Genetic Investigation of Fetuses With Isolated Unilateral Renal Agenesis Identified on Second Trimester Ultrasound: A Single Referral Center Experience. 孕中期超声鉴定的孤立单侧肾脏发育不全胎儿的遗传调查：单个转诊中心经验。

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2025-08-23 DOI: 10.1002/pd.6877

Yong-Ling Zhang, Qiu-Xia Yu, Zhi-Qing Xiao, Si-Yun Li, Dong-Zhi Li

{"title":"Genetic Investigation of Fetuses With Isolated Unilateral Renal Agenesis Identified on Second Trimester Ultrasound: A Single Referral Center Experience.","authors":"Yong-Ling Zhang, Qiu-Xia Yu, Zhi-Qing Xiao, Si-Yun Li, Dong-Zhi Li","doi":"10.1002/pd.6877","DOIUrl":"https://doi.org/10.1002/pd.6877","url":null,"abstract":"Objective: The objective of this paper is to explore genetic syndromes in fetuses with isolated unilateral renal agenesis (URA).Methods: This was a retrospective study of 121 cases with isolated URA diagnosed on second trimester anatomy ultrasound. All cases underwent invasive prenatal diagnosis for copy number variant (CNV) detection by chromosomal microarray analysis (CMA). For those with a negative CNV, exome sequencing (ES) is an option. Clinical and laboratory data were collected and reviewed for these cases, including maternal demographics, prenatal sonographic findings, molecular sequencing results, and pregnancy outcomes.Results: In total, 121 cases underwent CMA testing, which identified one case of trisomy X and two instances of pathogenic deletional CNVs, and specifically one deletion at 7q11.23 and another at 22q11.21. Among the cases that yielded negative results from CMA, 40 proceeded to trio ES. Notably, only one disease-causing variant, c.2437 G > T (p.Glu813Ter) in the CHD8 gene, was detected in a single case.Conclusion: The diagnostic yield of 2.48% for CNVs warrants the use of CMA during pregnancies complicated by URA. Monogenic conditions appear to be rarely involved in the pathology of isolated fetal URA.","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-08-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144966065","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 Accuracy of Estimated Fetal Weight Discordance in Predicting Birthweight Discordance in Monochorionic Twins: A Retrospective Cohort Study. 估计胎儿体重不一致在预测单绒毛膜双胞胎出生体重不一致中的诊断准确性：一项回顾性队列研究。

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2025-08-16 DOI: 10.1002/pd.6873

Jip A Spekman, E J T Joanne Verweij, Femke Slaghekke, Monique C Haak, Chiara C M M Lap, Derek P de Winter, Jeanine M M van Klink, Enrico Lopriore, Sophie G Groene

{"title":"Diagnostic Accuracy of Estimated Fetal Weight Discordance in Predicting Birthweight Discordance in Monochorionic Twins: A Retrospective Cohort Study.","authors":"Jip A Spekman, E J T Joanne Verweij, Femke Slaghekke, Monique C Haak, Chiara C M M Lap, Derek P de Winter, Jeanine M M van Klink, Enrico Lopriore, Sophie G Groene","doi":"10.1002/pd.6873","DOIUrl":"https://doi.org/10.1002/pd.6873","url":null,"abstract":"Objective: To evaluate the diagnostic accuracy of sonographic estimated fetal weight discordance (EFWD) ≥ 20% in predicting birthweight discordance (BWD) ≥ 20% (i.e., selective fetal growth restriction [sFGR]) in monochorionic (MC) twin pregnancies.Method: Retrospective cohort study including uncomplicated MC twin pairs (n = 213) and MC twins with sFGR (n = 134), with available ultrasound within 14 days of birth approximately 2002 and 2023 in our center. Within 14 and 7 days of birth, we calculated sensitivity and specificity. In a subgroup of twins with available ultrasound within 3 days of birth, the absolute error of BWD was calculated (BWD-EFWD).Results: The sensitivity and specificity of EFWD ≥ 20% within 14 days of birth in predicting BWD ≥ 20% were 84% (95% CI 76-89) and 85% (95% CI 79-89), respectively. Ultrasounds available within 7 days of birth (n = 192/347) showed comparable diagnostic accuracies (sensitivity 85% [95% CI 75-92], and specificity 81% [95% CI 73-88]). Among twins with available ultrasound within 3 days of birth (n = 90/347), the absolute error of BWD was -2.0% (SD 8.0), indicating a mean overestimation of BWD.Conclusion: In MC twins with sFGR, the accuracy of sonographic EFWD ≥ 20% in predicting BWD ≥ 20%, is relatively high. BWD is overestimated by an average of two percentage points within 3 days of birth.","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-08-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144862365","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 Decade of Prenatal Genetic Diagnostics: Insights From 1949 Cases at a Medical Genetics Facility in South India. 产前遗传诊断的十年：从1949年在印度南部的医学遗传学设施的案例的见解。

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2025-08-16 DOI: 10.1002/pd.6869

Roopadarshini Balasubramanian, Prathyusha Koneru, Harika Patnaik Chinchilam, Angalena Ramachandran, Usha R Dutta, Rajitha Ponnala, Vasantha Rani Sarvade, Prajnya Ranganath, Javeria Nisar, Sahithi Rathod Ramavath, Jamal Mohamed Nurul Jain, Muthulakshmi Mayandi, Ashwin Dalal, Shagun Aggarwal

{"title":"A Decade of Prenatal Genetic Diagnostics: Insights From 1949 Cases at a Medical Genetics Facility in South India.","authors":"Roopadarshini Balasubramanian, Prathyusha Koneru, Harika Patnaik Chinchilam, Angalena Ramachandran, Usha R Dutta, Rajitha Ponnala, Vasantha Rani Sarvade, Prajnya Ranganath, Javeria Nisar, Sahithi Rathod Ramavath, Jamal Mohamed Nurul Jain, Muthulakshmi Mayandi, Ashwin Dalal, Shagun Aggarwal","doi":"10.1002/pd.6869","DOIUrl":"https://doi.org/10.1002/pd.6869","url":null,"abstract":"Objective: Our objective was to report on the performance of prenatal diagnostic procedures for genetic testing in a developing country.Method: This retrospective study involved a review of medical records of women who underwent prenatal diagnostic procedures from 2014 to 2024 at a Medical Genetics facility in South India. Data on the type of procedure, indication for testing, types of tests, outcomes, and complications of procedures were recorded and analyzed using descriptive statistics.Results: A total of 1949 procedures were performed; 1126 amniocentesis and 816 chorionic villus sampling. An increasing trend in the number of prenatal diagnostic procedures has been observed over the decade. The most common indication for testing was monogenic disorders (1191/1949; 61.1%), followed by chromosomal disorders (537/1949; 27.6%) and ultrasound abnormalities (199/1949; 10.2%). In case of ultrasound abnormalities, a higher yield of monogenic disorders (39/87; 44.8% by exome sequencing) was observed compared to chromosomal disorders (8/204; 3.9% by karyotype/chromosomal microarray). There were no procedure-related miscarriages reported in our cohort.Conclusions: This study reiterates the safety of prenatal diagnostic procedures when performed by skilled personnel following standard protocols, even in low-resource settings. Monogenic disorders are the commonest test indication and the predominant cause of ultrasound abnormalities, reflecting the high burden of autosomal recessive disorders in our cohort.","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-08-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144862351","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

Maternal Mosaicism Challenges in Non-Invasive Prenatal Diagnosis. 母体嵌合体在无创产前诊断中的挑战。

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2025-08-13 DOI: 10.1002/pd.6868

Margot Comel, Marina Lamairia, Odile Boute, Camille Cenni, Anne Bergougnoux, Mireille Cossée, Michel Koenig, Luke Mansard, Marie-Claire Vincent

{"title":"Maternal Mosaicism Challenges in Non-Invasive Prenatal Diagnosis.","authors":"Margot Comel, Marina Lamairia, Odile Boute, Camille Cenni, Anne Bergougnoux, Mireille Cossée, Michel Koenig, Luke Mansard, Marie-Claire Vincent","doi":"10.1002/pd.6868","DOIUrl":"https://doi.org/10.1002/pd.6868","url":null,"abstract":"Objective: To report the incidental detection of maternal somatic mosaicism during the development of exclusion-based non-invasive prenatal diagnosis for monogenic disorders (NIPD-MD) initially indicated for apparently de novo pathogenic or likely pathogenic variants.Method: A droplet digital PCR (ddPCR)-based exclusion NIPD_MD assay was developed for four couples, each with a prior pregnancy affected by a rare autosomal dominant or X-linked condition due to a de novo pathogenic or likely pathogenic variant. Assays were designed to detect fetal-specific variants in maternal plasma, with validation performed on parental and proband samples.Results: In four cases, maternal somatic mosaicism (3%-9%) among 70 personalized NIPD_MD (5.7%) was identified during assay validation, rendering NIPD_MD infeasible due to interference from maternal alleles. Each couple was informed of the elevated recurrence risk. Depending on their preferences, invasive prenatal testing or intensive ultrasound follow-up was undertaken. Retrospective analysis of maternal sequencing data confirmed low-level mosaicism that had been filtered out during routine analysis.Conclusion: These cases underscore a key limitation of exclusion NIPD_MD when maternal mosaicism is present. Its identification is essential for accurate recurrence risk estimation and genetic counseling. Sensitive detection methods, careful pre-test evaluation, and transparent communication are critical to ensure informed reproductive decision-making.","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-08-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144848367","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 Value of Enhancing Sonographic Phenotyping to Improve the Diagnostic Yield of Noninvasive Prenatal Diagnosis (NIPD) for Achondroplasia. 增强超声表型对提高软骨发育不全无创产前诊断（NIPD）诊断率的价值。

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2025-08-13 DOI: 10.1002/pd.6874

Camille Verebi, Victor Gravrand, Claire Guerini, Olivia Anselem, Nicolas Vaucouleur, Lucie Orhant Boimard, Rachida Ben Ouazzou, Ceren Demirtas, France Leturcq, Thierry Bienvenu, Vassilis Tsatsaris, Emmanuelle Pannier, Juliette Nectoux

{"title":"The Value of Enhancing Sonographic Phenotyping to Improve the Diagnostic Yield of Noninvasive Prenatal Diagnosis (NIPD) for Achondroplasia.","authors":"Camille Verebi, Victor Gravrand, Claire Guerini, Olivia Anselem, Nicolas Vaucouleur, Lucie Orhant Boimard, Rachida Ben Ouazzou, Ceren Demirtas, France Leturcq, Thierry Bienvenu, Vassilis Tsatsaris, Emmanuelle Pannier, Juliette Nectoux","doi":"10.1002/pd.6874","DOIUrl":"https://doi.org/10.1002/pd.6874","url":null,"abstract":"Objectives: Achondroplasia is the most common form of skeletal dysplasia and is usually suspected in the third trimester of pregnancy based on abnormal sonographic findings. Non-invasive prenatal diagnosis (NIPD), based on the detection of pathogenic FGFR3 variants in maternal plasma, provides an accurate genetic confirmation. The aim of this study was to identify the sonographic markers most strongly associated with achondroplasia, with the intention of enhancing the specificity of NIPD referrals and improving diagnostic efficiency, thereby supporting clinicians in their diagnostic approach.Methods: A retrospective cohort study was conducted on 275 NIPD tests performed in the laboratory between 2017 and 2023. Of these, 176 were requested due to sonographic abnormalities suggestive of achondroplasia. Sonographic reports were systematically reviewed to identify key ultrasound features correlated with a positive NIPD result.Results: Among the NIPD tests ordered due to sonographic anomalies, 34.1% were confirmed positive for achondroplasia. Abnormal proximal end of the femur, frontal bossing, and a pronounced nasal saddle were the most specific markers, achieving a diagnostic yield of 87.5% when all three features were present. In contrast, short femur length alone had a poor diagnostic yield (8.9%).Conclusion: Targeted sonographic phenotyping significantly improves the diagnostic yield of NIPD for achondroplasia. These findings support the need for more refined prenatal screening guidelines to enhance test specificity and optimise patient care as new achondroplasia treatments emerge.","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-08-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144848368","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

Novel Biallelic Variants in CPOX Gene in a Case of Hereditary Coproporphyria With Antenatal Onset and Adverse Neonatal Outcome: A Potential Diagnostic Clue of Harderoporphyria? CPOX基因新型双等位变异在一例产前发病和新生儿不良结局的遗传性先天性卟啉症中：一种潜在的诊断线索？

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2025-08-06 DOI: 10.1002/pd.6871

Chiara Patelli, Gabriele Tonni, Maria Iascone, Anna Savoia, Giulia Rodella, Laura Pecoraro, Camilla Lucca, Ricciarda Raffaelli

引用次数: 0

mRNA Expression to Assess Hypoxia and Angiogenesis in Decidual Tissue of Term Fetuses With a Congenital Heart Disease. mRNA表达评估先天性心脏病足月胎儿蜕膜组织缺氧和血管生成

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2025-08-03 DOI: 10.1002/pd.6870

Maartje C Snoep, Marie-Louise P van der Hoorn, Moska Aliasi, Jacqueline D H Anholts, Marco C De Ruiter, Lotte E van der Meeren, Michael Eikmans, Monique C Haak

{"title":"mRNA Expression to Assess Hypoxia and Angiogenesis in Decidual Tissue of Term Fetuses With a Congenital Heart Disease.","authors":"Maartje C Snoep, Marie-Louise P van der Hoorn, Moska Aliasi, Jacqueline D H Anholts, Marco C De Ruiter, Lotte E van der Meeren, Michael Eikmans, Monique C Haak","doi":"10.1002/pd.6870","DOIUrl":"https://doi.org/10.1002/pd.6870","url":null,"abstract":"Objective: Delayed fetal neurodevelopment, lower birth weight, and placental abnormalities are related to congenital heart defects (CHD). We explored mRNA expression assessment of candidate genes related to fetal hypoxia and angiogenesis in decidual tissues of pregnancies with different types of fetal CHD, classified based on aortic flow and oxygenation.Method: In this prospective case-control study, mRNA expression was assessed for 18 candidate genes related to fetal hypoxia and angiogenesis in decidual (maternal) tissues of fetal simple transposition of the great arteries (TGA) (n = 14) and left sided CHD (n = 13) and in healthy controls (n = 31). Cases with a fetal syndrome/genetic abnormality, termination of pregnancy, intra-uterine fetal demise, or multiple pregnancies were excluded.Results: There were no significant differences in gene expression of the candidate genes between CHD cases and controls and between cases with fetal simple TGA and cases with fetal left sided CHD. Clustering analysis did not differentiate subgroups within the study population.Conclusions: Fetal hypoxia and altered angiogenesis on the level of mRNA expression in decidual tissue were not significantly different between CHD cases and controls and between cases with fetal simple TGA and cases with fetal left sided CHD. We hypothesize that other (angio) genetic and molecular pathways lead to morphological placental alterations in pregnancies with fetal CHD.","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-08-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144775994","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