Prenatal Diagnosis最新文献

Prenatal Phenotype of a Heterozygous Missense CHD4 Variant in a Fetus With Widened Cerebral Subarachnoid Space, Increased Head Circumference and Polyhydramnios. 脑蛛网膜下腔加宽、头围增大和羊水过多胎儿杂合错义CHD4变异的产前表型

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2025-06-29 DOI: 10.1002/pd.6841

Fan Zhou, Jing Chen, Shuo Yang, Xin Chen, Yuanyuan Xiao, Shanling Liu

引用次数: 0

Vaginal Delivery in Cases of Prenatally Diagnosed Omphalocele: Feasibility and Outcomes. 阴道分娩的情况下，产前诊断脐膨出：可行性和结果。

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2025-06-29 DOI: 10.1002/pd.6843

H Heinrich, D Kunne, J P M Derikx, E van Leeuwen, I H Linskens, E Pajkrt

{"title":"Vaginal Delivery in Cases of Prenatally Diagnosed Omphalocele: Feasibility and Outcomes.","authors":"H Heinrich, D Kunne, J P M Derikx, E van Leeuwen, I H Linskens, E Pajkrt","doi":"10.1002/pd.6843","DOIUrl":"https://doi.org/10.1002/pd.6843","url":null,"abstract":"Objective: This study aimed to assess outcomes of fetuses with prenatally detected omphalocele and the frequency of successful vaginal delivery in pregnancies with suspected non-lethal omphalocele and intended active neonatal management and its impact on neonatal outcome.Method: Prenatally diagnosed omphalocele cases in Amsterdam UMC from January 2007 to January 2023 were selected. Ultrasound data including the omphalocele circumference/abdominal circumference (OC/AC) ratio were collected and perinatal data were obtained for liveborn cases.Results: A total of 225 cases were included, with a live birth rate of 20.0% (45/225). Of the suspected non-lethal cases with active neonatal management, vaginal delivery was pursued in 78.9% (30/38), of which 76.7% (23/30) succeeded. The rate of giant omphaloceles did not differ significantly between vaginal and caesarean deliveries, nor did the rate of nulliparity, maximum OC/AC ratio, extracorporeal liver on prenatal ultrasound and successful primary closure. Intrapartum sac rupture occurred in 13.0% (3/23) of successful vaginal deliveries, which was not associated with the OC/AC ratio and in none of the cases with cesarean section. Birth dystocia of the abdomen occurred in none of the cases.Conclusion: In cases of intended vaginal delivery, 76.7% of vaginal deliveries succeeded, even in cases with giant omphalocele, of which the majority did not experience perinatal complications. Therefore, vaginal delivery appears to be a feasible option in cases with prenatally diagnosed omphaloceles.","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-06-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144529404","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 Arboleda-Tham Syndrome Associated With KAT6A Variants Presented With Interrupted Inferior Vena Cava and Fetal Growth Restriction. 以下腔静脉中断和胎儿生长受限为表现的KAT6A变异相关Arboleda-Tham综合征的产前诊断

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2025-06-25 DOI: 10.1002/pd.6845

Qiu-Xia Yu, Yong-Ling Zhang, Li Zhen, Dong-Zhi Li

{"title":"Prenatal Diagnosis of Arboleda-Tham Syndrome Associated With KAT6A Variants Presented With Interrupted Inferior Vena Cava and Fetal Growth Restriction.","authors":"Qiu-Xia Yu, Yong-Ling Zhang, Li Zhen, Dong-Zhi Li","doi":"10.1002/pd.6845","DOIUrl":"https://doi.org/10.1002/pd.6845","url":null,"abstract":"Arboleda-Tham syndrome (ARTHS) is an autosomal dominant disorder characterized by core features of developmental delay and intellectual disability. While ARTHS has been documented in numerous postnatal patients, only a limited number of prenatal cases have been reported to date. We present three prenatal cases of KAT6A-related ARTHS. One case exhibited an interrupted inferior vena cava with azygos continuation to the superior vena cava at 24 weeks gestation. Two cases demonstrated retarded fetal growth during the third trimester. All three cases underwent invasive genetic investigations during pregnancy, and trio exome sequencing identified a de novo pathogenic variant in the KAT6A gene in the fetuses. The pregnancies were subsequently terminated. Our report contributes to the expansion of both the genotypic and phenotypic spectrum of ARTHS by detailing previously unreported prenatal clinical features and novel genetic variants. Furthermore, our study emphasizes that even nonspecific findings on prenatal ultrasound may warrant exome sequencing, as it provides significant benefits for families by facilitating timely diagnosis and enhancing clinical management.","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-06-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144497795","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

Lung Growth and Intrapulmonary Circulation in Fetuses With Anhydramnios Due to Severe Renal Anomalies Treated With Serial Amnioinfusions. 连续羊膜输注治疗严重肾异常羊水胎儿的肺生长和肺内循环。

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2025-06-23 DOI: 10.1002/pd.6839

Edgar Hernandez-Andrade, Donatella Gerulewicz, Jerrie Refuerzo, KuoJen Tsao, Suzanne M Lopez, Rita Swinford, Percy Pacora, Eric Bergh, Amir Khan, Ramesha Papanna, Jimmy Espinoza, Anthony Johnson

{"title":"Lung Growth and Intrapulmonary Circulation in Fetuses With Anhydramnios Due to Severe Renal Anomalies Treated With Serial Amnioinfusions.","authors":"Edgar Hernandez-Andrade, Donatella Gerulewicz, Jerrie Refuerzo, KuoJen Tsao, Suzanne M Lopez, Rita Swinford, Percy Pacora, Eric Bergh, Amir Khan, Ramesha Papanna, Jimmy Espinoza, Anthony Johnson","doi":"10.1002/pd.6839","DOIUrl":"https://doi.org/10.1002/pd.6839","url":null,"abstract":"Objective: To evaluate changes in fetal lung size/volume and intrapulmonary circulation after serial amnioinfusions (AMI) in fetuses with early anhydramnios.Methods: Ten fetuses with anhydramnios due to renal agenesis (n = 4) or renal dysplasia (n = 6) were treated with serial AMIs. Before AMI, the following ultrasound parameters were obtained: fetal lung area, total lung volume (TLV), O/E LHR, thorax circumference (TC), cardiothoracic ratio (CTR), and pulsatility index of the main intrapulmonary artery (IPA). Differences in lung biometrics between the first and last AMIs are reported.Results: One hundred thirty-nine (median n = 14, [7-22] per patient) AMIs were performed. All deliveries were at ≥ 29 + 6 weeks/days of gestation. There were increases in lung areas (Left (z-scores (z-sc)) -1.86/-0.35; p < 0.001, Right -2.09/-0.81; p = 0.002), and in O/E LHRs (Left 0.56/0.73; p = 0.04, Right 0.57/0.73; p = 0.009). TLV increased (z-sc 0.24/0.53; p = 0.7) and IPA decreased (z-sc 0.87/0.43; p = 0.051), but differences were not significant. No differences in TC (z-sc 0.57/0.56; p = 0.97) or CTR (0.58/0.58; p = 0.1) were documented. The distribution of all lung biometric parameters across pregnancy showed values below the expected mean for gestational age.Conclusions: Fetuses with early anhydramnios treated with serial amnioinfusions showed an increase in lung size; however, this increment was below the expected mean for gestational age.","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-06-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144476427","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

In-Utero Therapy for Fetal Vascular Anomalies: Efficacy and Tolerance of Sirolimus Administered to the Pregnant Patient. 子宫内治疗胎儿血管异常：西罗莫司对妊娠患者的疗效和耐受性。

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2025-06-20 DOI: 10.1002/pd.6834

Ionela Iacobas, Tara L Rosenberg, Magdalena Sanz-Cortes, Sharada S Gowda, Ahmed A Nassr, Roopali V Donepudi

引用次数: 0

Patient Preferences and Understanding of Genome-Wide Cell-Free DNA Screening for Foetal Chromosomal Imbalances: A Survey Study. 胎儿染色体失衡的全基因组无细胞DNA筛查的患者偏好和理解：一项调查研究。

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2025-06-19 DOI: 10.1002/pd.6842

Yvette Raymond, Shavi Fernando, Ben W Mol, Melody Menezes, Andrew McLennan, Simon Meagher, Amy Hill, Daniel L Rolnik

{"title":"Patient Preferences and Understanding of Genome-Wide Cell-Free DNA Screening for Foetal Chromosomal Imbalances: A Survey Study.","authors":"Yvette Raymond, Shavi Fernando, Ben W Mol, Melody Menezes, Andrew McLennan, Simon Meagher, Amy Hill, Daniel L Rolnik","doi":"10.1002/pd.6842","DOIUrl":"10.1002/pd.6842","url":null,"abstract":"Objective: To assess parental preferences, expectations and understanding of genome-wide cell-free DNA screening (gwNIPT) in Australia.Method: A cross-sectional survey study utilizing an anonymous electronic questionnaire was conducted across three participating screening services in Australia between September 2023 and November 2024. Questions pertained to respondent demographics, pre-screening counselling, and accuracy expectations of gwNIPT for various chromosomal anomalies. Statistical analyses to investigate associations between responses used Chi-squared and Fisher's exact tests, ordinal logistic regression, and the Kruskal-Wallis test.Results: There were 329 survey responses recorded, of which 216 were completed (65.7%). The most frequent source of NIPT referral was a medical doctor (74.1%), and the most common duration of pre-screening counselling was 5 minutes (41.0%). Respondents showed overwhelming interest in all anomalies included in gwNIPT as well as various phenotypic outcomes including those of uncertain clinical significance. Despite this, only a minority of patients were aware that they were undergoing genome-wide screening (38.2%), and respondents did not anticipate a statistically significant difference in screening accuracy across different anomaly types (p = 0.715).Conclusion: Respondents undergoing gwNIPT indicated a preference to receive as much genetic information about their pregnancies as possible. Pre-screening counselling should therefore include the limitations of gwNIPT.","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-06-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144333789","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

Diurnal Effects on the Fraction of Fetal Cell-Free DNA in Maternal Plasma. 母体血浆中胎儿游离DNA的日影响。

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2025-06-18 DOI: 10.1002/pd.6836

Alexander Gamisch, Julia Hess, Maria-Elisabeth Mustafa-Korninger

{"title":"Diurnal Effects on the Fraction of Fetal Cell-Free DNA in Maternal Plasma.","authors":"Alexander Gamisch, Julia Hess, Maria-Elisabeth Mustafa-Korninger","doi":"10.1002/pd.6836","DOIUrl":"https://doi.org/10.1002/pd.6836","url":null,"abstract":"Objective: The discovery of fetal cell-free DNA (cfDNA) has revolutionized prenatal diagnostics through non-invasive prenatal testing (NIPT), which depends on accurately measuring the fetal fraction (FF) in maternal plasma. While FF is known to be influenced by maternal and fetal factors, the impact of intraday rhythms remains unclear. This study investigated whether FF varies based on blood draw timing.Methods: Data from 2519 euploid singleton pregnancies undergoing NIPT were analyzed. Key variables included maternal age, BMI, gestational age, fetal sex, and blood draw timing (06:50-21:00). FF was measured using the Harmony Prenatal IVD Test. Multiple linear regression identified independent predictors of FF, while intraday variation was assessed using Mann-Whitney U tests and boxplots.Results: FF showed a significant positive relationship with blood draw timing (β = 0.00176 per hour, p < 0.005), with afternoon values approximately 10% higher than morning values (∼0.01 difference). Other predictors included BMI (negative), gestational age (positive), and fetal sex (higher in females). Blood draw timing appeared to be a stronger predictor of FF than gestational age or fetal sex, second only to BMI.Conclusion: This novel finding demonstrates diurnal variation in FF, suggesting that optimizing blood draw timing could improve NIPT accuracy, particularly in borderline cases. Further research is needed to confirm the clinical implications.","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-06-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144326721","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

Chorionic Villus Sampling for Rapid Confirmation of High-Risk NIPT Results for Trisomy 21, 18, and 13. 绒毛膜绒毛取样快速确认21、18和13三体的高危NIPT结果。

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2025-06-17 DOI: 10.1002/pd.6837

Malgorzata I Srebniak, Marjolein Weerts, Marieke Joosten, Mark Drost, Robert Jan Galjaard, Vyne van der Schoot, Myrthe van den Born, Maarten F C M Knapen, Krista Prinsen, Jerome M J Cornette, Philip L J DeKoninck, Dimitri Papatsonis, Julia Spaan, Anneke Dijkman, Sabina de Weerd, Attie T J I Go, Karin E M Diderich, Diane Van Opstal

{"title":"Chorionic Villus Sampling for Rapid Confirmation of High-Risk NIPT Results for Trisomy 21, 18, and 13.","authors":"Malgorzata I Srebniak, Marjolein Weerts, Marieke Joosten, Mark Drost, Robert Jan Galjaard, Vyne van der Schoot, Myrthe van den Born, Maarten F C M Knapen, Krista Prinsen, Jerome M J Cornette, Philip L J DeKoninck, Dimitri Papatsonis, Julia Spaan, Anneke Dijkman, Sabina de Weerd, Attie T J I Go, Karin E M Diderich, Diane Van Opstal","doi":"10.1002/pd.6837","DOIUrl":"https://doi.org/10.1002/pd.6837","url":null,"abstract":"Objectives: International societies recommend amniocentesis (AC) after high-risk non-invasive prenatal testing (NIPT) because of potential inconclusive results from chorionic villus sampling (CVS) caused by placental mosaicism. Our study aimed to evaluate the necessity of confirmatory amniocentesis following CVS for trisomies 21, 18, and 13 with separate analysis of cytotrophoblast (CTB) and mesenchymal core (MC).Methods: We retrospectively analyzed the confirmatory cytogenetic results between April 2017 and December 2022. CTB and MC were separated and analyzed by QF-PCR and/or SNP array, and karyotyping when needed.Results: Among 338 cases, 70% (237/339) of women underwent CVS (70.5%) and 30% (101/338) underwent AC. Mosaic trisomy in MC requiring additional amniocentesis was detected in 13.5% (5/37) of cases referred due to trisomy 13, 2.5% (4/158) of cases of trisomy 21% and 0% (0/42) of cases of trisomy 18.Conclusions: A definitive diagnosis of CVS was achieved in 97.5%, 100%, and 86.5% of patients with high-risk NIPT results for trisomy 21, 18, and 13, respectively. Moreover, our clinical practice confirms that the majority of pregnant women (70%) opted for CVS as a quick confirmatory test. We conclude that both CVS and AC can be offered when preceded by pre-test counseling on the risks of potential inconclusive results as calculated in this study.","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-06-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144317768","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

Occipital Cephalocele, Polymicrogyria, Ocular Anomaly and Vermian Dysplasia: Prenatal Markers for Knobloch Syndrome. 枕部头膨出、多小脑回畸形、眼异常和蠕虫发育不良：诺布洛赫综合征的产前标记。

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2025-06-16 DOI: 10.1002/pd.6838

Laurence Sophie Carmant, Elka Miller, David Chitayat, Stephanie Hedges, Bobbi McGivern, Kimberly Harris, Karen Chong, Shiri Shinar

引用次数: 0

PIGO Gene Variants: New Insights Into Prenatal Diagnosis. PIGO基因变异：产前诊断的新见解。

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2025-06-13 DOI: 10.1002/pd.6825

A Zambiasi, J Aziza, N Chassaing, M Lebrun, A Sartor, M Langeois, C Dubucs

引用次数: 0