Prenatal Diagnosis最新文献_第2页

Novel Missense Variant in the SMARCD1 Gene as the Cause of Coffin-Siris Syndrome 11 in a Fetus With Ambiguous Genitalia and Multiple Dysmorphic Features. SMARCD1 基因中的新型缺义变异是导致胎儿出现生殖器模糊和多种畸形特征的 Coffin-Siris Syndrome 11 的原因。

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2024-10-10 DOI: 10.1002/pd.6683

Rachel A Veazey, Allan J Fisher, Asha N Talati, Emily Hardisty, Kelly L Gilmore, Neeta L Vora

引用次数: 0

Parental Management Choices and Discordant Ultrasound Findings in Referrals for Fetal Spina Bifida. 胎儿脊柱裂转诊中父母的管理选择和不一致的超声波检查结果。

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2024-10-09 DOI: 10.1002/pd.6677

Emma Van den Eede, Simen Vergote, Lennart Van der Veeken, Francesca Russo, Johannes Van der Merwe, Sofia Mastrodima-Polychroniou, Luc De Catte, Jan Deprest

{"title":"Parental Management Choices and Discordant Ultrasound Findings in Referrals for Fetal Spina Bifida.","authors":"Emma Van den Eede, Simen Vergote, Lennart Van der Veeken, Francesca Russo, Johannes Van der Merwe, Sofia Mastrodima-Polychroniou, Luc De Catte, Jan Deprest","doi":"10.1002/pd.6677","DOIUrl":"https://doi.org/10.1002/pd.6677","url":null,"abstract":"Objective: The severity of spina bifida aperta can be assessed prenatally by ultrasound. Morphological findings assist parents in choosing between management options. We aimed to document those management choices since the introduction of fetal surgery, and compare initial ultrasound findings prior to referral to findings in a fetal surgery center.Method: Single center cohort study of 245 consecutive fetuses with a second-trimester diagnosis of SBA. Data included nature of referral (for assessment or for surgery), condition-specific findings on ultrasound, and further management. We compared the reported findings on the initial ultrasound to ours for the presence of hindbrain herniation, lesion level, ventricular width, kyphosis, leg movement, and club feet.Results: Seventy-two percent (n = 177) of fetuses met the eligibility criteria for surgery; in 60% (n = 106) parents opted for fetal surgery. Of 136 patients specifically referred for surgery, 27 were ineligible (20%). Of the others, 93 proceeded with surgery. In up to 28% (n = 30) of surgery referrals, eligibility criteria such as lesion level (n = 30, 28%) or leg movement (72%, n = 78) as severity indicators were not reported.Conclusion: Fetal surgery uptake was high in patients referred for surgery. Second assessment in a fetal surgery center often reveals additional relevant information.","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":null,"pages":null},"PeriodicalIF":2.7,"publicationDate":"2024-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142392673","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

Response to: Prenatal Diagnosis and Postnatal Outcome of Closed Spinal Dysraphism, by Bedei et al. 回应对 Bedei 等人所著 "闭合性脊柱发育不良的产前诊断和产后结果 "一文的回应

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2024-10-09 DOI: 10.1002/pd.6685

Jean-Marie Jouannic, Eléonore Blondiaux, Timothée de Saint-Denis, Pauline Lallemant, Catherine Garel

引用次数: 0

Role of Amniotic Fluid Toxicity in the Pathophysiology of Myelomeningocele: A Narrative Literature Review. 羊水中毒在脊髓脊膜膨出症病理生理学中的作用：叙述性文献综述。

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2024-10-06 DOI: 10.1002/pd.6681

Yoann Athiel, Jean-Marie Jouannic, Matthieu Lépine, Corentin Maillet, Timothée de Saint Denis, Jérôme Larghero, Lucie Guilbaud

{"title":"Role of Amniotic Fluid Toxicity in the Pathophysiology of Myelomeningocele: A Narrative Literature Review.","authors":"Yoann Athiel, Jean-Marie Jouannic, Matthieu Lépine, Corentin Maillet, Timothée de Saint Denis, Jérôme Larghero, Lucie Guilbaud","doi":"10.1002/pd.6681","DOIUrl":"https://doi.org/10.1002/pd.6681","url":null,"abstract":"Myelomeningocele is a birth defect whose clinical manifestations are due both to incomplete neural tube closure and the progressive destruction of exposed neuroepithelium during pregnancy. Two hypotheses have been formulated to explain the spinal cord damage in utero: mechanical trauma and chemical factors. The objective of this review was to summarize the current insights about the potential role of amniotic fluid in spinal cord damage in myelomeningocele. Numerous histological and clinical data on animals and humans strongly suggest a progressive degeneration of neural tissue including loss of neural cells, astrogliosis, inflammation, and loss of normal architecture. However, few data have been published about the direct toxicity of amniotic fluid in this neural degeneration, including the potentially toxic effect of meconium. Finally, the chemical and cellular modifications of amniotic fluid composition in myelomeningocele could reflect both the process (toxic effect of meconium) and the consequences of neuroepithelium destruction (release of neural cells). Fetal surgery not only stops the leakage of the cerebrospinal fluid but also reduces the toxic effect of amniotic fluid by restoring the intrauterine environment. Identification of amniotic fluid neurotoxic factors could lead to the development of therapeutic agents designed to protect spinal tissue and improve fetal myelomeningocele outcomes.","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":null,"pages":null},"PeriodicalIF":2.7,"publicationDate":"2024-10-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142381526","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 a KIDINS220 De Novo Heterozygous Variant in a Fetus With a Complex CNS Anomaly. 复杂中枢神经系统异常胎儿的 KIDINS220 新变异体的产前诊断

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2024-10-04 DOI: 10.1002/pd.6682

Hadas Miremberg, Roee Birnbaum, Dorin Trigubov, Adi Botvinik, Yuval Yaron, Adi Mory, Gustavo Malinger, Karina Krajden Haratz

引用次数: 0

Fetal Speckle Tracking Echocardiography Measured Global Longitudinal Strain and Strain Rate in Congenital Heart Disease: A Systematic Review and Meta-Analysis. 胎儿斑点追踪超声心动图测量先天性心脏病的整体纵向应变和应变率：系统回顾与元分析》。

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2024-10-04 DOI: 10.1002/pd.6672

Sarah van den Wildenberg, Ingrid M van Beynum, Malou E C Havermans, Eric Boersma, Greggory R DeVore, John M Simpson, Eric A P Steegers, Attie T J I Go, Jérôme M J Cornette

{"title":"Fetal Speckle Tracking Echocardiography Measured Global Longitudinal Strain and Strain Rate in Congenital Heart Disease: A Systematic Review and Meta-Analysis.","authors":"Sarah van den Wildenberg, Ingrid M van Beynum, Malou E C Havermans, Eric Boersma, Greggory R DeVore, John M Simpson, Eric A P Steegers, Attie T J I Go, Jérôme M J Cornette","doi":"10.1002/pd.6672","DOIUrl":"https://doi.org/10.1002/pd.6672","url":null,"abstract":"Fetal two-dimensional speckle tracking echocardiography (2D-STE) is a novel technique that provides information on fetal heart function by measuring global longitudinal strain (GLS) and global longitudinal strain rate (GLSR). These features assess the longitudinal deformity of the fetal cardiac wall. 2D-STE is shown to be of prognostic value in children and adults with congenital heart disease (CHD). Therefore, its importance in fetal life should also be considered. This systematic review and meta-analysis provides an overview of the literature on 2D-STE (GLS/GLSR) in fetuses with CHD, focusing on the left and right ventricles (LV/RV). Findings indicated that LV-GLS was significantly lower in fetuses with coarctation of the aorta (CoA) and Tetralogy of Fallot (ToF) compared to controls. Conversely, fetuses with a single left ventricle exhibited higher LV-GLS. RV-GLS was significantly lower in fetuses with hypoplastic left heart syndrome (HLHS) and ToF compared to controls. LV-GLSR was significantly lower in fetuses with CoA. Overall, considerable heterogeneity was observed, possibly due to differences in study design. More prospective longitudinal studies on 2D-STE in fetuses with CHD, considering heterogeneity parameters, could offer better insights into this promising technique.","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":null,"pages":null},"PeriodicalIF":2.7,"publicationDate":"2024-10-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142375835","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

Agenesis of the Ductus Venosus and Its Association With Genetic Abnormalities. 静脉导管缺失及其与遗传异常的关系

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2024-10-03 DOI: 10.1002/pd.6678

Yarin Mash, Ron Bardin, Yinon Gilboa, Yosi Geron, Asaf Romano, Eran Hadar, Dana Brabbing Goldstein, Bella Davidov, Ohad Houri

{"title":"Agenesis of the Ductus Venosus and Its Association With Genetic Abnormalities.","authors":"Yarin Mash, Ron Bardin, Yinon Gilboa, Yosi Geron, Asaf Romano, Eran Hadar, Dana Brabbing Goldstein, Bella Davidov, Ohad Houri","doi":"10.1002/pd.6678","DOIUrl":"https://doi.org/10.1002/pd.6678","url":null,"abstract":"Objective: To investigate the association of agenesis of the ductus venosus (ADV) with genetic abnormalities using genetic studies-Chromosomal Microarray Analysis (CMA) and Exome Sequencing (ES).Design: Retrospective study of all fetuses diagnosed with ADV between January 2013 and December 2022 in a tertiary center.Results: ADV was diagnosed in 33 fetuses. The diagnosis was made at a mean gestational age of 21.2 ± 8.4 weeks. Conventional karyotype was applied in a single fetus (3.0%), CMA was applied in 21 fetuses (66.7%), and five fetuses (22.8%) were additionally tested with ES. ADV was isolated in eight fetuses (24%), whereas in 25 (76%) it was associated with abnormal ultrasound findings, including increased nuchal translucency (NT), intrauterine growth restriction (IUGR) and variable structural malformations, mostly cardiac (42%) followed by central nervous system (CNS) and skeletal malformations (24%). Genetic abnormalities were found in six fetuses out of 22 investigated (27%), of which 3 were detected by ES, 3 by CMA and 1 by conventional karyotype. A higher incidence of genetic aberrations was evident among ADVs associated with abnormal ultrasound findings. Genetic abnormalities were indicative of Prader Willi/Angelman syndrome, Noonan syndrome, CASK related disorder, 16q24.3 microdeletion syndrome and Trisomy 21.Conclusion: ADV associated with abnormal ultrasound findings is commonly correlated with genetic abnormalities and consequently unfavorable pregnancy outcomes. Our study emphasizes the value of genetic studies chiefly among cases associated with abnormal ultrasound findings, enabling early diagnosis of fetal pathologies associated with ADV, and providing better parental counseling.","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":null,"pages":null},"PeriodicalIF":2.7,"publicationDate":"2024-10-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142372673","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

Contribution of Genomic Imbalance in Prenatal Congenital Anomalies of the Kidney and Urinary Tract: A Multi-Center Cohort Study. 基因组失衡在产前肾脏和泌尿道先天性异常中的作用：一项多中心队列研究。

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2024-10-03 DOI: 10.1002/pd.6674

Keying Li, Huilin Wang, Matthew Hoi Kin Chau, Zirui Dong, Ye Cao, Yu Zheng, Tak Yeung Leung, Kwong Wai Choy, Yuanfang Zhu

{"title":"Contribution of Genomic Imbalance in Prenatal Congenital Anomalies of the Kidney and Urinary Tract: A Multi-Center Cohort Study.","authors":"Keying Li, Huilin Wang, Matthew Hoi Kin Chau, Zirui Dong, Ye Cao, Yu Zheng, Tak Yeung Leung, Kwong Wai Choy, Yuanfang Zhu","doi":"10.1002/pd.6674","DOIUrl":"https://doi.org/10.1002/pd.6674","url":null,"abstract":"Objectives: To investigate the diagnostic utility of copy-number variant (CNV) detection by chromosomal microarray analysis (CMA) and genotype-phenotype associations in prenatal congenital anomalies of the kidney and urinary tract (CAKUT).Methods: This is a retrospective multi-center study of CNV analysis in 457 fetuses with ultrasound-detected CAKUT and normal karyotypes. Cohorts from published studies were included for further pooled analyses (N = 2746). A literature review of single-nucleotide variant (SNV) and small insertions and deletions (Indel) analysis by whole-exome sequencing was performed to investigate monogenic causes.Results: In our multi-center cohort, 5.3% (24/457) of fetuses had pathogenic CNVs (pCNV); 3.9% (14/359) and 10.2% (10/98) in isolated and non-isolated CAKUT, respectively. Fetuses with isolated hyperechogenic kidneys (HEK) had the highest incidence of having pCNVs. In the literature review, 6.6% (180/2746) of fetuses carried pCNVs; 6.1% and 7.5% in isolated and non-isolated CAKUT, respectively. SNV/Indel analysis provided at least 16.5% (63/381) additional diagnostic yield beyond CNV analysis; 12.8% and 23.8% in isolated and non-isolated CAKUT, respectively.Conclusion: pCNVs comprise a significant proportion of genetic diagnostic findings in prenatal CAKUT, most commonly detected in fetuses with isolated HEK, MCDK, renal agenesis, and non-isolated CAKUT. Monogenic causes should be considered when karyotyping and CMA are nondiagnostic.","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":null,"pages":null},"PeriodicalIF":2.7,"publicationDate":"2024-10-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142372674","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 Phenotype of Alkuraya-Kučinskas Syndrome: A Novel Case and Systematic Literature Review. 阿尔库拉亚-库钦斯卡斯综合征的产前表型：一个新病例和系统文献综述

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2024-10-01 Epub Date: 2024-09-03 DOI: 10.1002/pd.6637

Stephanie M Rice, Dante F Varotsis, Sascha Wodoslawsky, Elizabeth Critchlow, Ruby Liu, Rodney A McLaren, Mona M Makhamreh, Brandy Firman, Seth I Berger, Huda B Al-Kouatly

{"title":"Prenatal Phenotype of Alkuraya-Kučinskas Syndrome: A Novel Case and Systematic Literature Review.","authors":"Stephanie M Rice, Dante F Varotsis, Sascha Wodoslawsky, Elizabeth Critchlow, Ruby Liu, Rodney A McLaren, Mona M Makhamreh, Brandy Firman, Seth I Berger, Huda B Al-Kouatly","doi":"10.1002/pd.6637","DOIUrl":"10.1002/pd.6637","url":null,"abstract":"Alkuraya-Kučinskas syndrome (AKS) is an autosomal recessive multisystem disorder resulting from mutations in the BLTP1 gene, formerly known as KIAA1109. Primary manifestations include brain malformations, arthrogryposis, and clubfeet. Cardiac, renal, and ophthalmologic abnormalities may also be observed, while nonimmune hydrops is rare. We present a case of two novel BLTP1 canonical splice-site variants in a fetus with multiple congenital anomalies, including hydrops, a kinked brainstem, and joint contractures. A systematic literature review was conducted to describe the prenatal phenotype of AKS, which was inspired by our case. Our systematic literature review of the prenatal phenotype in 19 cases, including our additional case, demonstrated joint contractures in 90% (18/20), ventriculomegaly in 60% (12/20), brainstem dysgenesis in 50% (10/20), cerebellar hypoplasia in 50% (10/20), parenchymal thinning with lissencephalic aspect in 60% (12/20), and facial dysmorphism in 70% (14/20) of reported AKS cases. In addition to our case, hydrops was reported in two other families. AKS should be considered in fetal presentations with characteristic features, especially brainstem kinking and joint contractures. Exome sequencing, including coverage of canonical intronic splice-site variants, can clarify the diagnosis. TRIAL REGISTRATION: ClinicalTrials.gov registration: NCT03911531.","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":null,"pages":null},"PeriodicalIF":2.7,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142126418","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

Abstracts of the ISPD 28th International Conference on Prenatal Diagnosis and Therapy, 7-10 July 2024, Boston. 国际产前诊断与治疗学会第 28 届国际产前诊断与治疗会议摘要，2024 年 7 月 7-10 日，波士顿。

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2024-10-01 DOI: 10.1002/pd.6666

引用次数: 0