Prenatal Diagnosis最新文献_第8页

Neighborhood deprivation is not associated with abortion consideration or completion in patients with fetal myelomeningocele. 邻里关系疏远与胎儿脊髓膜膨出症患者考虑流产或完成流产无关。

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2024-07-09 DOI: 10.1002/pd.6633

Steven T Papastefan, Yuqi Bian, Manmeet Singh, William S Marriott, Joyceline A Ito, Jessica Fry, Aimen F Shaaban, Ashish Premkumar

{"title":"Neighborhood deprivation is not associated with abortion consideration or completion in patients with fetal myelomeningocele.","authors":"Steven T Papastefan, Yuqi Bian, Manmeet Singh, William S Marriott, Joyceline A Ito, Jessica Fry, Aimen F Shaaban, Ashish Premkumar","doi":"10.1002/pd.6633","DOIUrl":"https://doi.org/10.1002/pd.6633","url":null,"abstract":"Objective: The objective of this study was to evaluate whether patient-level neighborhood deprivation index (NDI) was associated with termination of pregnancy consideration and completion in patients presenting with fetal myelomeningocele.Methods: This was a retrospective cohort analysis of patients with fetal myelomeningocele presenting to a fetal treatment center (FTC) in Illinois between 2018 and 2024. The exposure was NDI calculated from patient zip codes. The NDI was analyzed as both a dichotomous and ordinal exposure. The co-primary outcomes were abortion consideration prior to FTC consultation, ascertained by nurse intake, and abortion completion after consultation. Bivariate and log-binomial regression analyses were performed. Covariates were selected based on p < 0.10 on bivariate analyses. Otherwise, p < 0.05 indicated statistical significance.Results: A total of 157 participants were included. Evaluation of neighborhood deprivation as a dichotomous exposure revealed no association with abortion consideration or completion. AdditionallLy, no association was found on log binomial modeling after controlling for gestational age at presentation to the FTC and maternal race or ethnicity for abortion consideration (aRR 0.87, 95% CI 0.59-1.28) or completion (aRR 0.86, 95% CI 0.59-1.28). These results were similar when treating the NDI as an ordinal exposure.Conclusions: Contrary to our hypothesis, NDI is not associated with abortion consideration or completion in patients with fetal myelomeningocele.","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":null,"pages":null},"PeriodicalIF":2.7,"publicationDate":"2024-07-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141564146","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

Structured reporting in fetal magnetic resonance imaging with congenital diaphragmatic hernia. 胎儿先天性膈疝磁共振成像的结构化报告。

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2024-07-01 Epub Date: 2024-05-26 DOI: 10.1002/pd.6593

G Thater, A Weidner, N Rafat, O Nowak, C Otto, K Zahn, M Boettcher, S O Schönberg, T Schaible, M Weis

{"title":"Structured reporting in fetal magnetic resonance imaging with congenital diaphragmatic hernia.","authors":"G Thater, A Weidner, N Rafat, O Nowak, C Otto, K Zahn, M Boettcher, S O Schönberg, T Schaible, M Weis","doi":"10.1002/pd.6593","DOIUrl":"10.1002/pd.6593","url":null,"abstract":"Objective: We aim to provide a template structured report of fetal Magnetic Resonance Imaging in congenital diaphragmatic hernia (CDH) that was locally validated by the CDH study group in Mannheim.Methods: A selection of 50 fetal MRIs of patients with an isolated diaphragmatic hernia and associated radiology reports from five different senior radiologists from a single center resulted in a primary structured report, which was put into practice by using dedicated software. A questionnaire survey of the interdisciplinary CDH study group Mannheim was used to adapt the report to the clinical requirements.Results: There was a huge variability in how deep the free text reports go into detail. The side of the hernia was named in 94% of cases. In 58%, both the lung volume and the total lung volume were reported. A comparison with the expected lung volume was reported in 66% of cases. Additional findings, such as herniated organs, were reported in 96% of cases. Overall satisfaction with the newly established structured report was high within the CDH study group with a mean of 4.7.Conclusions: The use of the structured report of this study can optimize the interdisciplinary dialog, the standardization of report content, increase report completeness and improve quality.","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":null,"pages":null},"PeriodicalIF":2.7,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141155718","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

Very elevated hCGβ (≥10 multiple of the median) in maternal marker screening for Down syndrome: Frequency, etiologies, outcomes, and guidelines. 唐氏综合征母体标志物筛查中 hCGβ极度升高（≥中位数的 10 倍）：频率、病因、结果和指南。

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2024-07-01 Epub Date: 2024-05-17 DOI: 10.1002/pd.6588

Sophie Dreux, Jonathan Rosenblatt, Jérôme Massardier, Alexandra Benachi, Etienne Voirin-Mathieu, Françoise Muller

{"title":"Very elevated hCGβ (≥10 multiple of the median) in maternal marker screening for Down syndrome: Frequency, etiologies, outcomes, and guidelines.","authors":"Sophie Dreux, Jonathan Rosenblatt, Jérôme Massardier, Alexandra Benachi, Etienne Voirin-Mathieu, Françoise Muller","doi":"10.1002/pd.6588","DOIUrl":"10.1002/pd.6588","url":null,"abstract":"Aim: This aim of this study was to detail maternal and fetal anomalies observed on a national scale in a large French cohort of patients presenting high hCG values (≥10 multiple of the median [MoM]) at Down syndrome screening in order to define clear and optimal guidelines.Methods: This is a retrospective multicenter study based on a French annual database of all trisomy 21 screenings. Our study targeted and studied cases with hCG or hCGβ values ≥10 MoM. Complementary exams and outcomes were analyzed.Results: The calculated frequency was 0.05% for hCGβ ≥10 MoM in unselected patients. For this series of 289 cases, a complication of the pregnancy or a poor outcome was observed in 145 cases (51%) as follows: 96 (66%) cases of fetal disease, 23 (16%) of maternal disease, 5 (3.5%) of placental anomalies and 21 (14.5%) of systemic disease concerning mother, fetus and placenta.Conclusion: This study establishes the frequency of hCG or hCGβ values ≥10 MoM, presents a flow chart that optimizes follow-up, and gives clear information for patients presenting with such abnormal values at trisomy 21 screening.","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":null,"pages":null},"PeriodicalIF":2.7,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140958989","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 "mirror" syndrome: Evaluating the benefits of fetal therapy. 母体 "镜像 "综合征：评估胎儿治疗的益处。

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2024-07-01 Epub Date: 2024-05-16 DOI: 10.1002/pd.6589

Joanna Sichitiu, Fawaz Alkazaleh, Roel de Heus, Nimrah Abbasi, Tim van Mieghem, Johannes Keunen, Rory Windrim, Gareth Seaward, Edmond N Kelly, Liesbeth Lewi, Jan Deprest, Greg Ryan, Shiri Shinar

{"title":"Maternal \"mirror\" syndrome: Evaluating the benefits of fetal therapy.","authors":"Joanna Sichitiu, Fawaz Alkazaleh, Roel de Heus, Nimrah Abbasi, Tim van Mieghem, Johannes Keunen, Rory Windrim, Gareth Seaward, Edmond N Kelly, Liesbeth Lewi, Jan Deprest, Greg Ryan, Shiri Shinar","doi":"10.1002/pd.6589","DOIUrl":"10.1002/pd.6589","url":null,"abstract":"Objective: To evaluate maternal and perinatal outcomes following fetal intervention in the context of maternal \"mirror\" syndrome.Study design: A multicenter retrospective study of all cases of fetal hydrops complicated by maternal \"mirror\" syndrome and treated by any form of fetal therapy between 1995 and 2022. Medical records and ultrasound images of all cases were reviewed. \"Mirror\" syndrome was defined as fetal hydrops and/or placentomegaly associated with the maternal development of pronounced edema, with or without pre-eclampsia. Fetal hydrops was defined as the presence of abnormal fluid collections in ≥2 body cavities.Results: Twenty-one pregnancies met the inclusion criteria. Causes of fetal hydrops and/or placentomegaly included fetal lung lesions (n = 9), twin-twin transfusion syndrome (n = 6), severe fetal anemia (n = 4), and others (n = 2). Mean gestational age at \"mirror\" presentation was 27.0 ± 3.8 weeks. Maternal \"mirror\" syndrome was identified following fetal therapeutic intervention in 14 cases (66.6%). \"Mirror\" symptoms resolved or significantly improved before delivery in 8 (38.1%) cases with a mean interval from fetal intervention to maternal recovery of 13.1 days (range 4-35). Three women needed to be delivered because of worsening \"mirror\" syndrome. Of the 21 pregnancies treated (27 fetuses), there were 15 (55.5%) livebirths, 7 (25.9%) neonatal deaths and 5 (18.5%) intra-uterine deaths.Conclusion: Following successful treatment and resolution of fetal hydrops, maternal \"mirror\" syndrome can improve or sometimes completely resolve before delivery. Furthermore, the recognition that \"mirror\" syndrome may arise only after fetal intervention necessitates hightened patient maternal surveillance in cases of fetal hydrops.","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":null,"pages":null},"PeriodicalIF":2.7,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140945222","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

Expanding the phenotypic spectrum of MPDZ gene variants: A case report with prenatally detected Dandy-Walker malformation and single ventricle heart. 扩大 MPDZ 基因变体的表型谱：一例产前发现丹迪-沃克畸形和单心室心脏的病例报告。

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2024-07-01 Epub Date: 2024-05-31 DOI: 10.1002/pd.6614

Anđela Stanković, Mina Toljić, Nataša Karadžov Orlić, Željko Miković, Ivana Joksić

{"title":"Expanding the phenotypic spectrum of MPDZ gene variants: A case report with prenatally detected Dandy-Walker malformation and single ventricle heart.","authors":"Anđela Stanković, Mina Toljić, Nataša Karadžov Orlić, Željko Miković, Ivana Joksić","doi":"10.1002/pd.6614","DOIUrl":"10.1002/pd.6614","url":null,"abstract":"A 19-year-old gravida underwent genetic counseling at the 26th week of gestation due to sonographically detected fetal anomalies, including Dandy-Walker malformation, characterized by cerebellar vermis hypoplasia and an enlarged cisterna magna, and single ventricle heart. Following amniocentesis at the 27th week, after the normal quantitative fluorescence polymerase chain reaction and chromosomal microarray results, trio clinical exome sequencing was performed, revealing a novel homozygous pathogenic variant in the MPDZ gene, c.4576G>T (NM_001378778.1). So far, homozygous and compound heterozygous variants in MPDZ have been strongly linked to congenital hydrocephalus type 2 with or without accompanying brain or eye anomalies. The reported variant, absent in control databases, resulted in premature termination of protein synthesis, consistent with pathogenicity predictions. Both parents were identified as heterozygous carriers. Pregnancy termination was chosen post-diagnosis. Postmortem findings correlated with prenatal ultrasound. Our case broadens the prenatal phenotypic spectrum associated with MPDZ variants, necessitating further studies for comprehensive understanding of molecular mechanisms beneath the clinical manifestations.","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":null,"pages":null},"PeriodicalIF":2.7,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141180567","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

National registry of thoracoamniotic shunting using a double-basket catheter: A post-marketing surveillance registry of 295 patients with fetal hydrothorax. 使用双篮导管进行羊膜腔分流的国家登记：对 295 名胎儿羊水过多患者进行的上市后监测登记。

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2024-07-01 Epub Date: 2024-05-14 DOI: 10.1002/pd.6587

Yuichiro Takahashi, Keisuke Ishii, Hiroshi Ishikawa, Kenji Imai, Kazunori Baba, Haruhiko Sago

{"title":"National registry of thoracoamniotic shunting using a double-basket catheter: A post-marketing surveillance registry of 295 patients with fetal hydrothorax.","authors":"Yuichiro Takahashi, Keisuke Ishii, Hiroshi Ishikawa, Kenji Imai, Kazunori Baba, Haruhiko Sago","doi":"10.1002/pd.6587","DOIUrl":"10.1002/pd.6587","url":null,"abstract":"Objective: We report on the 1-year outcomes of fetuses who underwent thoracoamniotic shunting (TAS) with a double-basket catheter for fetal hydrothorax (FHT) using a national post-marketing surveillance registry.Methods: This surveillance study was conducted for cases enrolled between 2011 and 2019. Preoperative, operative, and postoperative findings and outcomes had to be reported through the national surveillance website.Results: Forty-three institutes enrolled 295 patients. In 60 patients, associated abnormalities were diagnosed after birth. Among the 235 patients with isolated hydrothorax, the survival rate at 1 year of age was 70.5%. Among these patients, 89% did not require oxygen or other respiratory support. The 1-year survival rate in complicated cases was 27%. Trisomy 21 was the most common associated problem (40%). Catheter associated problems, including dislocation (25%), obstruction (24%), and preterm rupture of the membranes (6%) were observed, but there were no severe maternal complications. TAS before 29.5 weeks of gestation (odds ratio [OR] 0.16) and skin edema and ascites (OR 0.06) were risk factors for death at one year, whereas appropriate shunt location for >28 days (OR 4.2) was a protective factor.Conclusion: We report a favorable survival rate in fetuses with isolated FHT treated with this double-basket catheter.","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":null,"pages":null},"PeriodicalIF":2.7,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140922749","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 novel MED12 pathogenic variant in a female fetus with facial cleft and cardiac defects identified in the first trimester. 在妊娠头三个月发现的患有面裂和心脏缺陷的女胎中的新型 MED12 致病变体。

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2024-07-01 Epub Date: 2024-05-22 DOI: 10.1002/pd.6594

Wei-Si Dai, Yan-Dong Yang, Dong-Zhi Li

引用次数: 0

Truncating variants in PAPSS2 gene: A cause of early prenatal onset brachyolmia? PAPSS2 基因的截断变异：产前早发性手足口病的病因？

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2024-07-01 Epub Date: 2024-05-20 DOI: 10.1002/pd.6596

Giulia Biancotto, Giulia Rosti, Francesca Madia, Valeria Capra, Marcello Scala, Elena Aleo, Dario Paladini

引用次数: 0

Cell-free DNA screening for common autosomal trisomies using rolling-circle replication in twin pregnancies. 利用双胎妊娠中的滚动圈复制技术，对常见常染色体三体进行无细胞 DNA 筛查。

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2024-07-01 Epub Date: 2024-05-27 DOI: 10.1002/pd.6615

Alexandre J Vivanti, Camille Maestroni, Alexandra Benachi, Stéphanie Conotte, Annegret Geipel, Karl Oliver Kagan, Antoni Borrell, Hanane El Kenz, Jean-Marc Costa, Jacques C Jani

{"title":"Cell-free DNA screening for common autosomal trisomies using rolling-circle replication in twin pregnancies.","authors":"Alexandre J Vivanti, Camille Maestroni, Alexandra Benachi, Stéphanie Conotte, Annegret Geipel, Karl Oliver Kagan, Antoni Borrell, Hanane El Kenz, Jean-Marc Costa, Jacques C Jani","doi":"10.1002/pd.6615","DOIUrl":"10.1002/pd.6615","url":null,"abstract":"Objective: To evaluate the performance of prenatal screening for common autosomal trisomies in twin pregnancies through the use of rolling-circle replication (RCR)-cfDNA as a first-tier test.Method: Prospective multicenter study. Women who underwent prenatal screening for trisomy (T) 21, 18 and 13 between January 2019 and March 2022 in twin pregnancies were included. Patients were included in two centers. The primary endpoint was the rate of no-call results in women who received prenatal screening for common autosomal trisomies by RCR-cfDNA at the first attempt, compared to that in prospectively collected samples from 16,382 singleton pregnancies. The secondary endpoints were the performance indices of the RCR-cfDNA.Results: 862 twin pregnancies underwent screening for T21, T18 and T13 by RCR-cfDNA testing at 10-33 weeks' gestation. The RCR-cfDNA tests provided a no-call result from the first sample obtained from the patients in 107 (0.7%) singleton and 17 (2.0%) twin pregnancies. Multivariable regression analysis demonstrated that significant independent predictors of test failure were twin pregnancy and in vitro fertilization conception. All cases of T21 (n = 20/862; 2.3%), T18 (n = 4/862; 0.5%) and T13 (n = 1/862; 0.1%) were correctly detected by RCR-cfDNA (respectively, 20, 4 and 1 cases). Sensitivity was 100% (95% CI, 83.1%-100%), 100% (95% CI 39.8%-100%) and 100% (95% CI 2.5%-100%) for T21, T18 and T13, respectively, in twin pregnancies.Conclusion: The RCR-cfDNA test appears to have good accuracy with a low rate of no-call results in a cohort of twin pregnancies for the detection of the most frequent autosomal trisomies.","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":null,"pages":null},"PeriodicalIF":2.7,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141155712","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

Delivery room and early postnatal management of neonates with congenital heart disease. 先天性心脏病新生儿的产房和产后早期管理。

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2024-07-01 Epub Date: 2024-06-10 DOI: 10.1002/pd.6617

Noorjahan Ali, Mary T Donofrio

引用次数: 0