Prenatal Diagnosis最新文献_第9页

Prenatal-Postnatal Outcomes and Prognostic Risk Factors of Fetal Volvulus: Analysis of 26 Cases. 胎儿扭转26例产前、产后结局及预后危险因素分析。

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2025-01-01 Epub Date: 2024-12-03 DOI: 10.1002/pd.6718

Ümit Taşdemir, Ömer Gökhan Eyisoy, Murad Gezer, Ayşenur Celayir, Mucize Eriç Özdemir, Oya Demirci

{"title":"Prenatal-Postnatal Outcomes and Prognostic Risk Factors of Fetal Volvulus: Analysis of 26 Cases.","authors":"Ümit Taşdemir, Ömer Gökhan Eyisoy, Murad Gezer, Ayşenur Celayir, Mucize Eriç Özdemir, Oya Demirci","doi":"10.1002/pd.6718","DOIUrl":"10.1002/pd.6718","url":null,"abstract":"Objective: The aim of the current study was to reveal ultrasonographic and clinical features, prenatal-postnatal outcomes and prognostic risk factors of fetal volvulus.Method: This retrospective study evaluated all cases of fetal volvulus diagnosed between 2018 and 2024 at the Perinatology center of Zeynep Kamil Women and Children Diseases Training and Research Hospital. In the vast majority of cases, the pediatric surgery team confirmed the conclusive diagnosis of volvulus during the postnatal period. The cohort was divided into two groups, the \"survivor\" and \"deceased\", in order to compare the outcome and to evaluate factors determining the outcome.Result: A total of 26 cases of fetal volvulus were followed up in our perinatology center which were confirmed by postnatal pediatric surgery or autopsy. Termination of pregnancy in two cases and intrauterine fetal death in one case were observed. Twenty-three cases reached live birth. Preterm labor, fetal growth restriction, ascites and decreased intestinal peristalsis were significantly more common in the deceased group. Neonatal death in five cases (19.2%), infant death in four cases (15.3%) and short gut syndrome in three cases (11.5%) were long term outcomes.Conclusion: Overall mortality rate may increase when fetal growth restriction, ascites, and decreased intestinal peristalsis are present with volvulus.","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":"27-34"},"PeriodicalIF":2.7,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142771702","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 : 2025-01-01 Epub 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

Combined Cell-Free DNA Screening for Aneuploidies and Selected Single-Gene Disorders for Pregnancies With Sonographically Detected Fetal Anomalies: Detection Rate and Residual Risk. 结合无细胞DNA筛查非整倍体和选择的单基因疾病妊娠超声检测胎儿异常：检出率和剩余风险。

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2025-01-01 Epub Date: 2024-12-11 DOI: 10.1002/pd.6720

Thi Lan Anh Luong, Duy Anh Nguyen, Thi Trang Dao, Canh Chuong Nguyen, Sim Thi Nguyen, Linh Thuy Dinh, Xuan Hai Tang, Hung Sang Tang, Hoai Nghia Nguyen, Hoa Giang

{"title":"Combined Cell-Free DNA Screening for Aneuploidies and Selected Single-Gene Disorders for Pregnancies With Sonographically Detected Fetal Anomalies: Detection Rate and Residual Risk.","authors":"Thi Lan Anh Luong, Duy Anh Nguyen, Thi Trang Dao, Canh Chuong Nguyen, Sim Thi Nguyen, Linh Thuy Dinh, Xuan Hai Tang, Hung Sang Tang, Hoai Nghia Nguyen, Hoa Giang","doi":"10.1002/pd.6720","DOIUrl":"10.1002/pd.6720","url":null,"abstract":"Objectives: To determine the additional detection rate (DR) and the residual risk (RR) of combined cell-free DNA (cfDNA) screening for aneuploidies (not including copy number variants) and 25 dominant single-gene disorders (SGD) in pregnancies with sonographic abnormalities.Method: One hundred sixteen singleton pregnant women with abnormal fetal ultrasounds from week 12 were included in the study. They underwent combined cfDNA analysis, while exome sequencing and karyotyping were performed as reference standards. The results of the cfDNA analysis were compared with diagnostic genetic tests.Results: The positive rate of cfDNA analysis was 15/116 (12.9%), with a positive predictive value of 13/15 (86.7%). The incremental DR of combined cfDNA screening for aneuploidies and 25 SGD compared with cfDNA testing for aneuploidies in fetuses with sonographic anomalies was 22.9%. The RR of cfDNA analysis for aneuploidies and pathogenic/likely pathogenic gene variants, after excluding cfDNA testing-detectable findings, was 2/101 (2.0%). The DR of cfDNA analysis for genetic aberrations in pregnancies with abnormal ultrasound was 13/35 (37.1%) compared with diagnostic testing.Conclusion: In fetuses with sonographic anomalies, the additional DR of combined cfDNA analysis for aneuploidies and 25 SGD was remarkable at 22.9% compared with cfDNA testing for aneuploidies; the overall RR of combined cfDNA analysis was approximately 2.0%. It is essential to provide detailed genetic counseling before using cfDNA analysis in these pregnancies.","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":"70-76"},"PeriodicalIF":2.7,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142814139","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 Ultrasound in the Diagnosis of Anorectal Malformations: Correlating Prenatal Signs With Postnatal Outcomes. 产前超声诊断肛肠畸形：产前体征与产后结局的相关性。

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2025-01-01 Epub Date: 2024-12-05 DOI: 10.1002/pd.6723

D Huijgen, H P Versteegh, R M H Wijnen, S Galjaard, N C J Peters, C E J Sloots

{"title":"Prenatal Ultrasound in the Diagnosis of Anorectal Malformations: Correlating Prenatal Signs With Postnatal Outcomes.","authors":"D Huijgen, H P Versteegh, R M H Wijnen, S Galjaard, N C J Peters, C E J Sloots","doi":"10.1002/pd.6723","DOIUrl":"10.1002/pd.6723","url":null,"abstract":"Objective: This study explored prenatal ultrasound markers in patients with anorectal malformations (ARMs).Methods: All patients treated for ARM in our institution from January 2014 to December 2021 with an available expert fetal anomaly scan (eFAS) were reviewed. The eFAS images were assessed to evaluate the fetal anus, specifically by identifying hyperechoic anal mucosa surrounded by hypoechoic anal sphincter, referred to as \"target sign\" (TS). Furthermore, indirect signs of ARM were assessed and correlated with postnatal clinical symptoms.Results: Of the 115 patients treated for ARM, 32 mothers underwent eFAS. TS was assessed in 22 fetuses, of which 17 (77.3%) had an absent or abnormal TS. Of the patients with a postnatally confirmed complex type of ARM, 90% had an absent or abnormal TS. One or more indirect signs of ARM were found in 16 out of 32 fetuses (50.0%), comprising echogenic bowel (n = 3), echogenic meconium (n = 2), dilated intestines (n = 7), echo-lucent cavity behind the urinary bladder (n = 4), abnormal external genitalia (n = 6), and polyhydramnios (n = 5).Conclusion: This retrospective cohort study provides valuable insights into the potential role of TS assessment and indirect signs in the prenatal diagnosis of ARM. Future studies should further validate our findings and elicit whether TS assessment should be incorporated into prenatal screening protocols.","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":"35-43"},"PeriodicalIF":2.7,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11717739/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142786778","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

Fetal Intracranial Hemorrhage due to Uniparental Disomy and Unmasked MPL-Related Congenital Amegakaryocytic Thrombocytopenia. 单亲染色体畸形和暴露的骨髓相关先天性无核细胞性血小板减少症所致胎儿颅内出血。

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2024-12-31 DOI: 10.1002/pd.6737

Dawn Gano, Orit A Glenn, Larry Rand, Kyle Heraty, Patrick Devine, Mary E Norton, Teresa N Sparks

引用次数: 0

Genetic Diagnosis and Clinical Features of Fetuses With Congenital Diaphragmatic Hernia. 先天性膈疝胎儿的遗传诊断和临床特征。

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2024-12-16 DOI: 10.1002/pd.6727

Yan Lü, Yi Yu, Jiazhen Chang, Mengmeng Li, Xueting Yang, Xiya Zhou, Na Hao, Hua Meng, Zhenghong Li, Lishuang Ma, Hui You, Shan Jian, Ying Wang, Shengjie Li, Yiqing Yu, Kaili Yin, Mingming Wang, Yulin Jiang, Qingwei Qi

{"title":"Genetic Diagnosis and Clinical Features of Fetuses With Congenital Diaphragmatic Hernia.","authors":"Yan Lü, Yi Yu, Jiazhen Chang, Mengmeng Li, Xueting Yang, Xiya Zhou, Na Hao, Hua Meng, Zhenghong Li, Lishuang Ma, Hui You, Shan Jian, Ying Wang, Shengjie Li, Yiqing Yu, Kaili Yin, Mingming Wang, Yulin Jiang, Qingwei Qi","doi":"10.1002/pd.6727","DOIUrl":"https://doi.org/10.1002/pd.6727","url":null,"abstract":"Objective: Congenital diaphragmatic hernia (CDH) is a rare abnormality with highly heterogeneous genetic causes. This study investigated chromosomal and monogenic abnormalities in fetal CDH patients and evaluated the efficacy of chromosomal microarray analysis (CMA) and whole-exome sequencing (WES) for genetic diagnosis. The clinical features of the patients were also evaluated.Methods: We evaluated the genetic and clinical data of 51 prenatally diagnosed fetuses with CDH. CMA was performed for every patient. If CMA did not yield diagnostic results, the samples were subjected to WES.Results: Compared with fetuses with isolated CDH (n = 42), those with non-isolated CDH (n = 9) presented a higher genetic diagnostic rate (22.2% vs. 2.4%). The overall diagnostic yield was 5.9%, comprising 3.9% from chromosomal microarray analysis (CMA) and an additional 2.0% from whole exome sequencing (WES). CMA identified (1) mosaic trisomy 18 in a patient with isolated CDH; and (2) 4q terminal deletion syndrome in a patient with non-isolated CDH. WES identified a novel missense mutation, PLS3 c.1763A > G, associated with X-linked CDH in a patient with non-isolated CDH and a family history of recurrent CDH.Conclusion: Genetic testing should be offered for all fetuses with CDH, regardless of whether the cases are isolated or non-isolated. WES should be considered if CMA fails to provide a diagnostic result, particularly in patients with non-isolated CDH and a family history of recurrent CDH.","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2024-12-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142838765","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

Going Back in Time: Prenatal Presentations of Postnatal Genetic Diagnoses Made in a Neonatal Intensive Care Unit. 回到过去：在新生儿重症监护病房进行的产后遗传诊断的产前介绍。

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2024-12-05 DOI: 10.1002/pd.6710

Michael Duyzend, Malika Sud, Alissa M D'Gama, Tabitha Poorvu, Judy Estroff, Monica H Wojcik

{"title":"Going Back in Time: Prenatal Presentations of Postnatal Genetic Diagnoses Made in a Neonatal Intensive Care Unit.","authors":"Michael Duyzend, Malika Sud, Alissa M D'Gama, Tabitha Poorvu, Judy Estroff, Monica H Wojcik","doi":"10.1002/pd.6710","DOIUrl":"https://doi.org/10.1002/pd.6710","url":null,"abstract":"Objectives: Prenatal genetic diagnosis can impact care across the perinatal continuum; however, prenatal suspicion for genetic disorders may be complicated by incomplete knowledge of fetal rare-disease phenotypes. Here, we describe the prenatal presentations of a cohort of infants with rare genetic conditions who were diagnosed postnatally in a neonatal intensive care unit (NICU), to characterize prenatal presenting features and evaluate why the diagnosis was not identified prenatally.Methods: Retrospective cohort study of infants born over a 7 year period (2017-2023) who were admitted to a Level IV NICU and received a postnatal genetic diagnosis prior to 1 year of age. We identified which of these infants had been imaged prenatally at our Maternal Fetal Care Center (MFCC) as an opportunity for prenatal genetic diagnosis. Clinical data were abstracted from the medical records.Results: 51 cases met the inclusion criteria. Nine of the 51 infants were not strongly suspected to have a genetic syndrome prenatally when seen at the MFCC, as evidenced by lack of prenatal genetic consultation and lack of documented suspicion for a genetic etiology. These cases largely had absent or uncertain prenatal phenotypes. In most cases (42/51, 82.4%), prenatal diagnostic testing was not pursued even if offered. Overall, postnatal diagnoses, of which there was one dual diagnosis, were made by karyotype/FISH (11/52, 21.1%), microarray (8/52, 15.4%), gene panel/targeted testing (17/52, 32.7%), or exome sequencing (16/52, 30.8%).Conclusions: Our data illustrate the challenges in fetal phenotyping and support a broad approach to prenatal testing to facilitate early genetic diagnosis, which may meaningfully impact postnatal care.","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2024-12-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142786776","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

Identification of a Mosaic Variant in the SYNCRIP Gene Causing Foetal Periventricular Nodular Heterotopia, Abnormal Sulcation and Infratentorial Anomaly. 鉴定 SYNCRIP 基因的马赛克变异导致胎儿脑室周围结节性异位、异常鞘膜和脑室下异常

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2024-12-01 Epub Date: 2024-11-02 DOI: 10.1002/pd.6698

Roee Birnbaum, Gustavo Malinger, Liat Ben Sira, Mirela Goldenberg-Furmanov, Hadas Miremberg, Mordechai Shohat, Karina Krajden Haratz

引用次数: 0

Predicting the Difficult Neonatal Airway in Fetuses With Micrognathia, Oropharyngeal or Neck Mass Lesions: Two-Center Experience With Fetal MRI. 预测有小颌畸形、口咽或颈部肿块病变的胎儿新生儿气道困难：使用胎儿核磁共振成像的双中心经验。

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2024-12-01 Epub Date: 2024-09-24 DOI: 10.1002/pd.6651

Stacy Goergen, James Christie, Tracy Jackson, Maria-Elisabeth Smet, Simon Robertson, Atul Malhotra, Annie Kroushev, Mark Lovell

{"title":"Predicting the Difficult Neonatal Airway in Fetuses With Micrognathia, Oropharyngeal or Neck Mass Lesions: Two-Center Experience With Fetal MRI.","authors":"Stacy Goergen, James Christie, Tracy Jackson, Maria-Elisabeth Smet, Simon Robertson, Atul Malhotra, Annie Kroushev, Mark Lovell","doi":"10.1002/pd.6651","DOIUrl":"10.1002/pd.6651","url":null,"abstract":"Objective: Neonatal airway compromise requiring intubation, due to micrognathia or a mass lesion obstructing the fetal airway, remains difficult but important to predict prenatally. We aimed to validate MR predictors of difficult neonatal airway (DNA) in a multicentre retrospective cohort of fetuses with micrognathia and oropharyngeal/neck masses.Method: The radiology databases of two large Australian maternal-fetal medicine centers were searched for subjects meeting inclusion criteria: Pregnancies of > 18 weeks' gestation evaluated with prenatal ultrasound and MRI between 2007 and 2022 where either fetal micrognathia or a fetal cervical, oral or oropharyngeal mass was identified on prenatal ultrasound and MRI, and details of delivery/postnatal course were available including: nature of delivery, need for the fetal airway to be secured at delivery, degree of difficulty in airway securement, survival > 24 h postnatally. Imaging predictors of a difficult neonatal airway (DNA) were assessed blinded to these neonatal outcomes.Results: Twenty-six fetuses met the inclusion criteria. Oropharyngeal and neck mass location with polyhydramnios was 100% sensitive and 82% specific for DNA. JI < 5th centile with polyhydramnios was 83% sensitive and 70% specific. JI < 5th centile with polyhydramnios was associated with DNA in 80% of cases delivered by ex utero intrapartum (EXIT) delivery and none with non-EXIT delivery mode.Conclusion: A cervical or oropharyngeal mass with polyhydramnios predicted a difficult neonatal airway. Polyhydramnios with jaw index < 5th centile was less sensitive and less specific for a difficult neonatal airway.","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":"1593-1602"},"PeriodicalIF":2.7,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11628208/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142352497","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

Hypospadias Associated With Fetal Growth Restriction: A Multicentric Descriptive and Prognostic Cohort Study. 与胎儿生长受限有关的尿道下裂：一项多中心描述性和预测性队列研究

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2024-12-01 Epub Date: 2024-11-05 DOI: 10.1002/pd.6699

Manon Marquet, Olivia Anselem, Claire Bouvattier, Alexandre J Vivanti, Alexandra Benachi, Jean-Marie Jouannic, Olivier Picone, Jonathan Rosenblatt, Laurent J Salomon, Vassilis Tsatsaris, Yoann Athiel

{"title":"Hypospadias Associated With Fetal Growth Restriction: A Multicentric Descriptive and Prognostic Cohort Study.","authors":"Manon Marquet, Olivia Anselem, Claire Bouvattier, Alexandre J Vivanti, Alexandra Benachi, Jean-Marie Jouannic, Olivier Picone, Jonathan Rosenblatt, Laurent J Salomon, Vassilis Tsatsaris, Yoann Athiel","doi":"10.1002/pd.6699","DOIUrl":"10.1002/pd.6699","url":null,"abstract":"Objective: To determine the prevalence of genetic and endocrine abnormalities and to assess fetal, neonatal and surgical outcomes in cases of hypospadias associated with fetal growth restriction.Method: A multicentric retrospective study was conducted across five prenatal diagnosis centers in Paris. The cohort encompassed all fetuses diagnosed with the combination of fetal growth restriction < 10th percentile (FGR) and hypospadias from 2013 to 2021. Maternal data, fetal outcome and results of prenatal investigations were collected, along with postnatal data, encompassing endocrinological and genetic assessments, functional aspects and surgical outcomes.Results: Among the 82 patients included in the cohort, there were 14 (17%) terminations of pregnancy and four (5%) in utero deaths, leaving 64 (78%) live neonates, including five (6%) with early neonatal death. Among the 52 (63%) cases where hypospadias and FGR were considered as ultrasound-isolated anomalies, six (12%, [3.2%-20.8%]) exhibited chromosomic, genetic, or endocrinological abnormalities diagnosed half prenatally and half postnatally. Fifty percent of the overall hypospadias were proximal. Most children underwent surgical intervention before reaching 2 years of age, with 50% encountering complications and often required reintervention.Conclusion: The association of FGR and hypospadias should not be underestimated as genetic or endocrinological abnormalities were identified even when hypospadias and FGR initially appear isolated. Additionally, the overall prognosis may be worsened using complex and iterative surgical procedures.","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":"1567-1573"},"PeriodicalIF":2.7,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11628206/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142584001","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