Prenatal Diagnosis最新文献

{"title":"Serial Amnioinfusion Therapy for Treatment of Congenital Bilateral Renal Agenesis-A Systematic Review.","authors":"Adriana Baez, Gabriele Tonni, Chryso P Katsoufis, Amanda Alladin, Ugo Maria Pierucci, Yair J Blumenfeld, Rodrigo Ruano","doi":"10.1002/pd.6850","DOIUrl":"https://doi.org/10.1002/pd.6850","url":null,"abstract":"<p><p>Serial amnioinfusion therapy (SAT) has emerged as a potential mitigatory intervention to adverse perinatal outcomes associated with congenital bilateral renal agenesis (BRA). However, its efficacy, safety, and ethical implications warrant thorough evaluation. This systematic review, developed according to PRISMA guidelines, analyzes the published data on outcomes of SAT for BRA and explores its implications. Inclusion criteria were a diagnosis of bilateral renal agenesis, therapeutic use of amnioinfusion, amnioinfusion procedure, and individual maternal and fetal outcome reports. A total of 192 published studies were identified. Among these, 11 full texts were included (N = 40). Only cases resulting in live birth and with reported maternal and neonatal outcomes were analyzed. The average number of amnioinfusions per mother was 9 (n = 23; range 1-26 infusions). Median gestational age at delivery was 33.4 weeks (n = 40; range 23.7-36.8 weeks). APGAR scores (n = 14) at 1 and 5 min were 4 and 6, respectively. Almost half of newborns died within 33 days of life (n = 19) and 7 (17.5%) survived at the time of original publication. Overall neonatal mortality was 82.5% (33 of 40). These findings suggest that SAT for BRA improves the chances of neonatal survival in the first few days to weeks of life but not consistently beyond that time. Additional advances in neonatal care are needed to improve long-term outcomes in peripartum survivors.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-07-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144668203","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}

{"title":"Incidental Identification of Potentially Affected Individuals Through Expanded Carrier Screening During Preconception or Early Pregnancy.","authors":"Yan Lü, Jiazhen Chang, Yulin Jiang, Xiya Zhou, Na Hao, Yiqing Yu, Mengmeng Li, Kaili Yin, Xueting Yang, Qingwei Qi","doi":"10.1002/pd.6859","DOIUrl":"https://doi.org/10.1002/pd.6859","url":null,"abstract":"<p><strong>Objective: </strong>Expanded carrier screening (ECS) is used to assess the reproductive probability of having an offspring affected by an autosomal recessive or X-linked recessive genetic disorder. Rarely, a presumably healthy individual may be identified to carry variants that could influence their health. This study aimed to investigate the incidence of potentially affected individuals, with the objective of improving counseling for ECS.</p><p><strong>Methods: </strong>A retrospective study of a cohort of 3001 individuals who sought ECS during early pregnancy or preconception was conducted. Potentially affected individuals carrying biallelic pathogenic variants for autosomal recessive diseases, as well as females carrying a heterozygous pathogenic variant for X-linked disease, were identified.</p><p><strong>Results: </strong>A total of 13 potentially affected individuals (0.43%) were identified; 5 patients were homozygous or compound heterozygous for autosomal recessive diseases, and 8 were heterozygous for X-linked diseases. The majority of the potentially affected individuals were asymptomatic (85%, 11/13) at the time of assessment. Only two patients exhibited mild clinical manifestations.</p><p><strong>Conclusion: </strong>People who intend to undergo ECS should be informed that they themselves may be identified as potentially affected individuals for whom clinical evaluation and surveillance are recommended.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-07-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144668202","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}

{"title":"Integrating the Continuum of Genetic Testing From Fetus to Neonate: A Review of Prenatal Genetic Testing and the Overlap With Newborn Testing.","authors":"Sarah Harris, Neeta L Vora","doi":"10.1002/pd.6849","DOIUrl":"https://doi.org/10.1002/pd.6849","url":null,"abstract":"<p><p>Perinatal genetics is a field that continues to experience rapid advances. Various genetic testing strategies are utilized in the prenatal and neonatal period with significant overlap between them. We summarize currently available diagnostic genetic testing options and review indications for genetic testing in the prenatal and neonatal period. With ongoing improvement in genome sequencing and variant interpretation, we anticipate that our understanding of this field of genetics will continue to expand.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-07-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144659998","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}

{"title":"The Ultrasound and Genetic Characteristics of Fetuses With Laterality Defects-A Prenatal Cohort in Asian Population.","authors":"Wu Yi, Hua Renyi, Chen Yiyao, Wang Xiao, Chen Ping, Wang YanLin, Wang Hui","doi":"10.1002/pd.6857","DOIUrl":"https://doi.org/10.1002/pd.6857","url":null,"abstract":"<p><strong>Objective: </strong>To investigate the distribution of laterality defects in fetuses, including situs inversus totalis (SIT) and situs ambiguous (SA), and to explore the potential genetic etiology of these laterality defects.</p><p><strong>Methods: </strong>Detailed fetal echocardiography and extracardiac structural evaluations were performed. Genetic testing, including chromosomal microarray analysis, and trio exome sequencing was conducted to identify potential genetic variants.</p><p><strong>Results: </strong>The incidence of heart malformation was significantly higher in SA fetuses than in SIT group (30/31 vs. 2/36, p < 0.001). The incidence of univentricular heart with single atrium was significantly higher in right isomerism compared with left isomerism (12/19 vs. 3/12, p = 0.029), while the incidence of double outlet right ventricle was significantly higher in left isomerism (5/12 vs. 1/19, p = 0.022). Genetic testing identified variation within candidate genes of cardiac development. Except for CFAP300 c.604delG and KMT2D c.16351T>C, which were rated as \"likely pathogenic\", all other variants were categorized as variants of uncertain significance, with some fetuses having compound heterozygous variations.</p><p><strong>Conclusion: </strong>Fetuses with SA have a significantly higher likelihood of concurrent heart malformations compared with those with SIT. Genetic testing identified potential genetic variants that may play crucial roles in the mechanisms underlying normal fetal visceral positioning. Further studies are needed to explore the clinical significance of these genetic variants and to improve our understanding of the etiology and management of fetal laterality defects.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-07-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144650241","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}

{"title":"Prevalence of Critical Congenital Heart Defects Among Neonates Born With Abdominal Wall Defects.","authors":"Zane J Hellmann, Linh Buu, Shahyan Rehman, Carly Thaxton, Daniel G Solomon, Robert A Cowles","doi":"10.1002/pd.6861","DOIUrl":"https://doi.org/10.1002/pd.6861","url":null,"abstract":"<p><strong>Introduction: </strong>We hypothesized that there is a higher prevalence of critical congenital heart defects (CCHD) among infants born with gastroschisis, which leads to worse outcomes during index neonatal intensive care unit (NICU) admission.</p><p><strong>Methods: </strong>Rates of gastroschisis, omphalocele, and CCHD were calculated from Department of Health and Human Services (HHS) annual data on all live births in the US. Separately, NICU admissions to the Pediatric Health Information System (PHIS) between 2017 and 2023 were analyzed for diagnosis of gastroschisis, omphalocele, or CCHD, as identified by ICD-10 codes.</p><p><strong>Results: </strong>Neonates diagnosed with gastroschisis carried a concomitant diagnosis of CCHD more frequently than the general population (OR = 8.18, 95% CI 5.56-12.02). Among NICU admissions to PHIS hospitals, neonates diagnosed with both gastroschisis and CCHD had higher rates of open cardiac surgery (OR = 12.20, 95% CI 2.36-63.08, p < 0.001) and mortality (OR = 9.56, 95% CI 1.72-53.07, p = 0.004) during index admission compared to the general NICU population.</p><p><strong>Discussion: </strong>The current study demonstrates that infants born with gastroschisis are more likely to be diagnosed with CCHD than the general population. A diagnosis of both gastroschisis and CCHD resulted in higher rates of open cardiac surgery and mortality during index hospital admission.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-07-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144650240","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}

{"title":"First-Trimester Fetal Cardiac Function Measurements Using Spatio-Temporal Image Correlation and Two Ultrasound-Related Post-Processing Methods: A Feasibility and Reproducibility Study.","authors":"K Zandbergen, M Rousian, Q C J Griep, A H J Koning, J M J Cornette, B R Rebel, E A P Steegers, A G M G J Mulders","doi":"10.1002/pd.6846","DOIUrl":"https://doi.org/10.1002/pd.6846","url":null,"abstract":"<p><strong>Objective: </strong>To study the feasibility and reproducibility of two ultrasound (US) related post-processing methods for first-trimester fetal cardiac function assessment by ventricle volume measurements.</p><p><strong>Method: </strong>First-trimester transvaginal Spatio-Temporal Image Correlation (STIC) US datasets acquired between 11⁺⁰-13⁺⁶ weeks gestational age (GA) were used to perform fetal cardiac ventricle volume (FCVV) measurements in the end-diastolic (EDVV) and end-systolic (ESVV) phases using two methods: the manual segmentation method Virtual Organ Computed-Aided AnaLysis (VOCAL) and (semi-)automated volume measuring method Virtual Reality (VR). Reproducibility was assessed by calculating the intra-, interobserver and intersystem agreement using intraclass correlation coefficients (ICCs) followed by Bland-Altman plots.</p><p><strong>Results: </strong>25 STIC US datasets were selected. The mean GA was 13⁺⁰ weeks (SD 2.3 days) and mean crown-rump length was 68.0 mm (range 61.0-75.6 mm). The intra- and inter-observer agreement for both methods resulted in good to excellent agreement (ICCs > 0.85). Mean relative differences for all FCVV measurements were < 10.0%, except for the inter-observer agreement of the VOCAL ESVV measurement (40.6%). The inter-system agreement showed poor to moderate agreement (ICCs 0.32-0.75) and moderate to good agreement (ICCs 0.62-0.78) in terms of absolute agreement and consistency, respectively.</p><p><strong>Conclusion: </strong>FCVV measurements performed in STIC US datasets using VR are feasible and reproducible, specifically when compared to VOCAL.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-07-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144601348","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}

{"title":"Non-Isolated Congenital Diaphragmatic Hernia. Can We Think of a Beacon of Hope?","authors":"Isabella Fabietti, Chiara Vassallo, Milena Viggiano, Leonardo Caforio, Pietro Bagolan","doi":"10.1002/pd.6856","DOIUrl":"https://doi.org/10.1002/pd.6856","url":null,"abstract":"<p><strong>Background: </strong>The TOTAL Trial demonstrated the efficacy and safety of prenatal treatment of isolated severe left Congenital Diaphragmatic Hernia (CDH). Since this trial was completed, the application of the fetal approach in selected non-isolated CDH cases has become a daily clinical and ethical reality, raising the question of extending the indication to fetoscopic endotracheal occlusion (FETO) to selected non-isolated cases where no guidance is available.</p><p><strong>Method: </strong>This study examines the ethical and clinical implications of offering FETO for non-isolated Congenital Diaphragmatic Hernia (CDH). It analyzes current ethical frameworks in fetal surgery and draws comparisons with similar debates concerning patients with genetic conditions and/or neurological impairment that necessitate major procedures, such as organ transplantation. We revised the literature, including data from extensive CDH registries, to assess survival rates and the variability of associated anomalies. A multidisciplinary, patient-centered decision-making framework was developed to guide clinical considerations.</p><p><strong>Results: </strong>Recent data suggest that survival outcomes in some syndromic CDH cases may be comparable to those of isolated CDH, challenging the rationale for a priori exclusion from fetal therapy. Ethical analysis highlights the need for individualized assessments rather than categorical restrictions, emphasizing the principles of beneficence, non-maleficence, autonomy, and justice. Decision-making should extend beyond survival rates to consider long-term quality of life and parental values.</p><p><strong>Conclusions: </strong>The absence of definitive evidence should not lead to the denial of potential benefits when a reasonable chance of improved outcomes exists. Instead, a multidisciplinary, patient- and family-centered approach should guide fetal therapy decisions, ensuring ethical integrity while adapting to the evolving landscape of prenatal medicine.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-07-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144584651","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}

{"title":"Single-Step Universal First-Trimester Cytomegalovirus Screening and Valacyclovir Prophylaxis in Pregnancy: A Cost-Utility Analysis in a High Seroprevalence Setting.","authors":"Zhi Zhen Lim, Clarence Ong, Ching Yee Chan, Kee Thai Yeo, Wei Yee Wan, Jerry Kok Yen Chan, Wei Ching Tan, Lay Kok Tan, Pamela Palasanthiran, Yi Wang, Liying Yang","doi":"10.1002/pd.6848","DOIUrl":"https://doi.org/10.1002/pd.6848","url":null,"abstract":"<p><strong>Objective: </strong>To evaluate the cost-effectiveness of first trimester single-step universal cytomegalovirus (CMV) serological screening with valacyclovir as vertical transmission prophylaxis versus routine ultrasound-directed testing.</p><p><strong>Methods: </strong>A payer perspective cost-utility analysis was conducted on a hypothetical population of 100,000 pregnant women for a time horizon of 9 month of full-term pregnancy and the lifetime of children. Using a decision-tree and Markov model, we assessed quality-adjusted life years (QALYs) gained by preventing congenital CMV (cCMV) sequelae against the costs of universal screening and valacyclovir prophylaxis.</p><p><strong>Results: </strong>The ICER for universal screening strategy was USD125,864 (SGD170,087)/QALY-gained compared to routine ultrasound-directed testing. It prevented approximately 54 cCMV infections, 18 cases of symptomatic infections, and 17 cases of sensorineural hearing loss (SNHL) and cognitive impairment by age of 5 per 100,000 mothers screened. The primary factors influencing cost-effectiveness include the effectiveness of VCV in preventing vertical CMV transmission, the prevalence of primary CMV infection during pregnancy, the probability of symptomatic congenital CMV following periconceptional infection, and the cost of serological testing.</p><p><strong>Conclusions: </strong>Although the ICER of universal CMV screening appears high in absolute terms, it compares favorably with ICER of commonly offered antenatal screening methods such as first trimester non-invasive prenatal testing for women at intermediate risk of Trisomy 21. Universal screening has the potential for averting childhood morbidity at birth and by 5-years-old. Important variables influencing the ICER include the effectiveness of valacyclovir in preventing vertical transmission, prevalence of primary CMV infection, probability of symptomatic cCMV after periconception primary infection and cost of serology tests.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-07-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144584653","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}

{"title":"Open Spinal Dysraphism Without Hindbrain Herniation-Natural History and Postnatal Outcome.","authors":"I Bedei, C C Kik, R Axt-Fliedner, P L J DeKoninck, W Ventura, S Köhler, M Schulze, T Struffert, M Kolodziej, D Diehl, B Sass, J K H Spoor, C Keil","doi":"10.1002/pd.6855","DOIUrl":"https://doi.org/10.1002/pd.6855","url":null,"abstract":"<p><strong>Objective: </strong>To report the natural history of fetuses with open spinal dysraphism (OSD) without hindbrain herniation (HBH) during second-trimester evaluation.</p><p><strong>Methods: </strong>A multicenter retrospective cohort study was conducted across three prenatal centers to evaluate fetuses with OSD. We reviewed cases with postnatally confirmed OSD without prenatal HBH at 19-27 weeks. Standardized prenatal evaluation consisted of repetitive ultrasound and magnetic resonance imaging. Postnatal outcome measures involved imaging, intraoperative findings and neurological function tests.</p><p><strong>Results: </strong>Among 280 fetuses with OSD, evaluated at a median gestational age of 21 weeks, a total of 12 (4%) lacked HBH. Moderate ventriculomegaly was observed in 33% of cases without HBH. Corpus callosum anomalies were not detected. Postnatally, HBH was present in 50%, while the shunt rate remained low (20%). In 80%, postnatal motor function (MF) was equal to or better based on the anatomical level. In 33%, MF after birth declined in comparison to the first fetal functional assessment in the second trimester.</p><p><strong>Conclusion: </strong>Fetuses with OSD and absent HBH in the second trimester demonstrate a low postnatal shunt rate. MF was frequently impaired at the initial second-trimester assessment, and in about a third of cases, postnatal MF seemed to have worsened. These findings may inform counseling and question the place of fetal surgery for this subgroup.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-07-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144584652","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}

{"title":"The Prenatal Neuro-Radiological Phenotype Associated With a Recurrent Pathogenic Variant in PPP2R1A.","authors":"Calder Hamill, Stacy Goergen, Michael Fahey, Tony Roscioli, Anita Gorrie, Helen Curd, Nikki Gelfand","doi":"10.1002/pd.6851","DOIUrl":"https://doi.org/10.1002/pd.6851","url":null,"abstract":"<p><strong>Background: </strong>PPP2R1A-related neurodevelopmental disorder (PPP2R1A-rNDD) is a rare condition marked by developmental delay, intellectual disability, and characteristic brain imaging findings that can be detected on prenatal neuroimaging.</p><p><strong>Case presentation: </strong>We report three fetuses, all with a recurrent pathogenic PPP2R1A variant (c.544C〉T, p.Arg182Trp), identified at a single fetal diagnostic service over 12 months. The neuroradiological phenotype included corpus callosum dysgenesis, widening of the interhemispheric fissure and ventriculomegaly consistent with an aqueduct stenosis pattern. Two pregnancies ended in termination; one continued, with diagnosis confirmed postnatally.</p><p><strong>Discussion: </strong>These cases broaden the prenatal neuroradiological spectrum of PPP2R1A-rNDD and, more specifically, a missense variant associated with the p.Arg182Trp change. These cases share reduced CC length (sometimes markedly) and widening of the interhemispheric fissure as common features.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-07-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144576041","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}