Prenatal Diagnosis最新文献_第8页

Prenatal Diagnosis of Warsaw Breakage Syndrome: Fetal Compound Heterozygous Variants in the DDX11 Gene Associated With Growth Restriction, Cerebral, and Extra-Cerebral Malformations. 华沙断裂综合征的产前诊断：与生长受限、脑部和脑外畸形有关的 DDX11 基因胎儿复合杂合子变异。

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2024-11-01 Epub Date: 2024-10-20 DOI: 10.1002/pd.6684

C Kratochwila, L Pomar, S Lebon, C Gengler, D C Pavlidou, J-M Good, C Kumps, J Sichitiu

{"title":"Prenatal Diagnosis of Warsaw Breakage Syndrome: Fetal Compound Heterozygous Variants in the DDX11 Gene Associated With Growth Restriction, Cerebral, and Extra-Cerebral Malformations.","authors":"C Kratochwila, L Pomar, S Lebon, C Gengler, D C Pavlidou, J-M Good, C Kumps, J Sichitiu","doi":"10.1002/pd.6684","DOIUrl":"10.1002/pd.6684","url":null,"abstract":"Warsaw Breakage Syndrome (WABS) is a rare autosomal recessive cohesinopathy characterized by growth retardation and congenital anomalies. This report aims to highlight the prenatal diagnosis of WABS through ultrasound findings and genetic testing. We report a case of prenatal diagnosis of WABS in a 24-week gestation fetus exhibiting microcephaly, delayed sulcation, short corpus callosum, cerebellar vermis hypoplasia and intrahepatic portal-systemic shunts. The couple had a history of a prior pregnancy termination due to severe intrauterine growth restriction and cerebral malformations. Whole exome sequencing revealed compound heterozygous pathogenic variants [NM_030653.4:c.1403dupT, p.(Ser469Valfs*32) and c.1672C>T, p.(Arg558*)] in the DDX11 gene, consistent with WABS. The same pathogenic variants were identified in the prior terminated fetus upon subsequent analysis. Postmortem examination of the proband confirmed the prenatal ultrasound findings. This case expands the understanding of the prenatal phenotypic spectrum of WABS by identifying specific cerebral and extracerebral anomalies associated with pathogenic variants in the DDX11 gene. Incorporating advanced genetic diagnostics like whole exome sequencing into prenatal care provides valuable information for genetic counseling and management of rare genetic disorders.","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":"1526-1529"},"PeriodicalIF":2.7,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142472960","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

Parental or Trio Magnetic Resonance Imaging to Improve Prenatal Counseling in Brain Anomalies. 父母或三人磁共振成像改善脑异常产前咨询。

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2024-11-01 Epub Date: 2024-09-20 DOI: 10.1002/pd.6653

Carlota Rodó, Nerea Maiz, Élida Vázquez, David Gómez-Andrés, Irene Valenzuela, Anna Abulí, Elena Carreras

{"title":"Parental or Trio Magnetic Resonance Imaging to Improve Prenatal Counseling in Brain Anomalies.","authors":"Carlota Rodó, Nerea Maiz, Élida Vázquez, David Gómez-Andrés, Irene Valenzuela, Anna Abulí, Elena Carreras","doi":"10.1002/pd.6653","DOIUrl":"10.1002/pd.6653","url":null,"abstract":"Objective: To assess whether targeted magnetic resonance of one or both of the progenitors could refine the diagnosis in cases of fetal brain anomalies with uncertain prognosis.Methods: Single-center retrospective case series, where targeted magnetic resonance was performed on one or both of progenitors after a suspicion of fetal complex brain anomalies, and prognosis was unclear based solely on fetal tests (neurosonogram, fetal magnetic resonance, and genetic testing).Results: Seven women were included. Results were relevant for prenatal counseling in five cases, with a definitive diagnosis in three: one periventricular nodular heterotopia, one mild tubulinopathy, and one dynein-associated neurodevelopmental disorder. Median gestational age at referral was 28.3 weeks (range, 20.7-34.9). Neurosonogram findings were inconclusive in all cases. Exome sequencing in amniotic fluid was conducted for all cases. Fetal magnetic resonance was performed at a median gestational age of 34.4 weeks (range, 29.3-35.7), confirming ultrasound diagnosis in all cases, and providing substantial additional information in two (2/7, 28.6%). Parental magnetic resonance findings aligned with fetal findings in 5/7 cases (71.4%).Conclusion: DUO or TRIO magnetic resonance, involving both progenitors and the fetus, could play a significant role in prenatal diagnosis of selected brain anomalies with uncertain prognosis.","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":"1435-1443"},"PeriodicalIF":2.7,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142293744","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 : 2024-11-01 Epub 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

Confined Placental Mosaicism Detected With Non-Invasive Prenatal Testing: Is There an Association Between Mosaic Ratio and Pregnancy Outcome? 通过非侵入性产前检测发现的局限性胎盘嵌合：马赛克比例与妊娠结果有关联吗？

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2024-11-01 Epub Date: 2024-10-10 DOI: 10.1002/pd.6680

Geerke M Eggenhuizen, Attie T J I Go, Mariëtte J V Hoffer, Eveline Goedegebuur-Zwalua, Malgorzata I Srebniak, Diane Van Opstal

{"title":"Confined Placental Mosaicism Detected With Non-Invasive Prenatal Testing: Is There an Association Between Mosaic Ratio and Pregnancy Outcome?","authors":"Geerke M Eggenhuizen, Attie T J I Go, Mariëtte J V Hoffer, Eveline Goedegebuur-Zwalua, Malgorzata I Srebniak, Diane Van Opstal","doi":"10.1002/pd.6680","DOIUrl":"10.1002/pd.6680","url":null,"abstract":"Objective: Confined placental mosaicism (CPM) is associated with an increased risk for pregnancy complications, such as fetal growth restriction (FGR), preterm birth and hypertensive disorders. Pregnancies with possible CPM can be identified with non-invasive prenatal testing (NIPT). We performed a retrospective cohort study to investigate whether the mosaic ratio, as calculated with the Veriseq v2 used for NIPT, can predict adverse pregnancy outcomes in cases of CPM.Method: A mosaic ratio for trisomies detected by NIPT and obstetric data such as fetal growth, structural fetal anomalies and birthweight were retrospectively studied in a cohort of patients with CPM diagnosed between February 2021 and October 2023. Structural and sex chromosomal aberrations were not included in this study.Results: Of 122 CPM cases, 52 cases (42.6%) showed adverse perinatal outcomes, including FGR, low birthweight, hypertensive disorders, or preterm birth. A significantly higher mosaic ratio was found in the adverse outcome group compared to those with normal outcome, but a clear-cut threshold could not be set, except potentially for trisomy 16.Conclusion: There is an association between the mosaic ratio and adverse pregnancy outcomes in cases of CPM. However, without a clear-cut threshold, it cannot be used for the individual patient for differentiation between CPM with and without clinical consequences.","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":"1462-1469"},"PeriodicalIF":2.7,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142401099","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 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 : 2024-11-01 Epub 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

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 : 2024-11-01 Epub 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":"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":" ","pages":"1479-1497"},"PeriodicalIF":2.7,"publicationDate":"2024-11-01","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

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 : 2024-11-01 Epub 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":"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":" ","pages":"1451-1461"},"PeriodicalIF":2.7,"publicationDate":"2024-11-01","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 Sonographic Features of Rubinstein-Taybi Syndrome-A Small Case Series of a Rare Syndrome. 鲁宾斯坦-泰比综合征的产前超声特征--一种罕见综合征的小型病例系列。

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2024-11-01 Epub Date: 2024-09-22 DOI: 10.1002/pd.6668

K Zloto, T Weissbach, B Messing, R Birnbaum, L Gindes, M Levy, T Lerman-Sagie, E Hadi, A Eliyahu, N Feinstein-Goren, E Kassif

引用次数: 0

The High Diagnostic Yield of Prenatal Exome Sequencing Followed by 3400 Gene Panel Analysis in 629 Ongoing Pregnancies With Ultrasound Anomalies. 产前外显子组测序和 3400 个基因组分析对 629 例超声异常孕妇的高诊断率。

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2024-11-01 Epub Date: 2024-09-30 DOI: 10.1002/pd.6676

Karin E M Diderich, Hennie T Bruggenwirth, Marieke Joosten, Florentine Thurik, Jona Mijalkovic, Marike Polak, Joan Kromosoeto, Galhana M Somers-Bolman, Myrthe van den Born, Mark Drost, Robert Jan H Galjaard, Sander Galjaard, Lies H Hoefsloot, Maarten F C M Knapen, Rick van Minkelen, Vyne van der Schoot, Marjon A van Slegtenhorst, Frank Sleutels, Kyra E Stuurman, Marjolein J A Weerts, Attie T J I Go, Martina Wilke, Malgorzata I Srebniak

{"title":"The High Diagnostic Yield of Prenatal Exome Sequencing Followed by 3400 Gene Panel Analysis in 629 Ongoing Pregnancies With Ultrasound Anomalies.","authors":"Karin E M Diderich, Hennie T Bruggenwirth, Marieke Joosten, Florentine Thurik, Jona Mijalkovic, Marike Polak, Joan Kromosoeto, Galhana M Somers-Bolman, Myrthe van den Born, Mark Drost, Robert Jan H Galjaard, Sander Galjaard, Lies H Hoefsloot, Maarten F C M Knapen, Rick van Minkelen, Vyne van der Schoot, Marjon A van Slegtenhorst, Frank Sleutels, Kyra E Stuurman, Marjolein J A Weerts, Attie T J I Go, Martina Wilke, Malgorzata I Srebniak","doi":"10.1002/pd.6676","DOIUrl":"10.1002/pd.6676","url":null,"abstract":"Background: The aim of this study was to evaluate the diagnostic yield of routine exome sequencing (ES) in fetuses with ultrasound anomalies.Methods: We performed a retrospective analysis of the ES results of 629 fetuses with isolated or multiple anomalies referred in 2019-2022. Variants in a gene panel consisting of approximately 3400 genes associated with multiple congenital anomalies and/or intellectual disability were analyzed. We used trio analysis and filtering for de novo variants, compound heterozygous variants, homozygous variants, X-linked variants, variants in imprinted genes, and known pathogenic variants.Results: Pathogenic and likely pathogenic variants (class five and four, respectively) were identified in 14.0% (88/629, 95% CI 11.5%-16.9%) of cases. In the current cohort, the probability of detecting a monogenetic disorder was ∼1:7 (88/629, 95% CI 1:8.7-1:5.9), ranging from 1:9 (49/424) in cases with one major anomaly to 1:5 (32/147) in cases with multiple system anomalies.Conclusions: Our results indicate that a notable number of fetuses (1:7) with ultrasound anomalies and a normal chromosomal microarray have a (likely) pathogenic variant that can be detected through prenatal ES. These results warrant implementation of exome sequencing in selected cases, including those with an isolated anomaly on prenatal ultrasound.","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":"1444-1450"},"PeriodicalIF":2.7,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142352507","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

Fetal Therapy for Congenital Pulmonary Malformations: A Prospective Population-Based National Cohort Study. 先天性肺畸形的胎儿治疗：一项以人口为基础的前瞻性全国队列研究。

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2024-11-01 Epub Date: 2024-08-13 DOI: 10.1002/pd.6646

Mathilde Weber, Isabelle Monier, Makan Rahshenas, Laurent J Salomon, Nicolas Sananes, Vanina Castaigne, Véronique Houfflin-Debarge, Jean-Marie Jouannic, Jérôme Massardier, Vassilis Tsatsaris, Babak Khoshnood, Nathalie Lelong, Christophe Delacourt, Alexandra Benachi

{"title":"Fetal Therapy for Congenital Pulmonary Malformations: A Prospective Population-Based National Cohort Study.","authors":"Mathilde Weber, Isabelle Monier, Makan Rahshenas, Laurent J Salomon, Nicolas Sananes, Vanina Castaigne, Véronique Houfflin-Debarge, Jean-Marie Jouannic, Jérôme Massardier, Vassilis Tsatsaris, Babak Khoshnood, Nathalie Lelong, Christophe Delacourt, Alexandra Benachi","doi":"10.1002/pd.6646","DOIUrl":"10.1002/pd.6646","url":null,"abstract":"Objective: To assess the frequency of fetal therapy for fetuses with congenital pulmonary malformations (CPMs) and to investigate their short-term outcomes.Method: The study population included 435 singleton fetuses diagnosed with CPMs from a national population-based cohort study in France in 2015-2018. Information was obtained from medical records on CPM volume ratio (CVR), signs of compression, fetal therapy and perinatal outcomes. The characteristics and outcomes of fetuses with and without fetal therapy were compared using a univariate test.Results: Twenty six fetuses (6.0%, 95% CI: 4.1-8.6) received at least one fetal therapy including thoracoamniotic shunts only (n = 3), antenatal steroids only (n = 12), and a combination of several therapies including thoracentesis and amniodrainage, in addition to shunts and steroids (n = 11). Compared with fetuses without fetal therapy, those who did have higher CVR (1.6 ± 0.3 vs. 0.7 ± 0.04, p < 0.001) and more severe signs of compression (73.1% vs. 12.8%, p < 0.001). The proportion of live births after fetal therapy was 84.6% versus 98.5% (p < 0.001) for those without fetal therapy and the hospital mortality rate was 13.6% versus 1.0% (p = 0.004), respectively.Conclusion: A small minority of fetuses with CPMs underwent fetal therapy. These patients had a lower survival compared with those who did not receive fetal therapy.Trial registration: NCT02352207.","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":"1536-1547"},"PeriodicalIF":2.7,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141976399","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