Prenatal Diagnosis最新文献

{"title":"Global Delivery of Foetal Sequencing: Do We Need Some Standardisation?","authors":"Natalie J Chandler, Zandra C Deans","doi":"10.1002/pd.6866","DOIUrl":"https://doi.org/10.1002/pd.6866","url":null,"abstract":"<p><strong>Objective: </strong>The development of sequencing technologies has resulted in rapid expansion in the testing available for foetuses with structural anomalies to diagnose monogenic disorders. To understand the variability in how foetal sequencing services are delivered, we developed a survey that focussed on the scope of testing, any parallel testing performed, laboratory and analytical processes, multidisciplinary team working, reporting practices, quality, reanalysis and data sharing.</p><p><strong>Method: </strong>A draft survey was developed and reviewed by members of the International Society of Prenatal Diagnosis (ISPD) and revised accordingly. Questions were developed with the aim of ascertaining how prenatal sequencing services are being conducted and results reported. The survey was distributed to members of all GenQA registered laboratories and ISPD members.</p><p><strong>Results: </strong>Responses were received from 101 individuals from a range of specialisms. The results show a high degree of variability in how laboratories are conducting, analysing and reporting foetal sequencing tests.</p><p><strong>Conclusion: </strong>The survey results demonstrate the need for global guidance on issues related specifically to prenatal sequencing. To include: the role of the clinical team prior to testing, the scope and limitations of sequencing, multidisciplinary working to interpret the data, the handling unexpected findings and clear, accurate reporting of the results.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-07-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144708568","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":"Perinatal Survival Following Parvovirus B19 Infection: Overall Outcomes and a Secondary Comparison of the 2023-2024 Outbreak to the Previous Two Decades.","authors":"Noam Regev, Noam Pardo, Michal Axelrod, Chen Berkovitz, Eliel Klapholz, Orna Mor, Hagai Avnet, Boaz Weisz, Shali Mazaki-Tovi, Yoav Yinon","doi":"10.1002/pd.6860","DOIUrl":"https://doi.org/10.1002/pd.6860","url":null,"abstract":"<p><strong>Objectives: </strong>To evaluate perinatal survival following maternal parvovirus B19 virus (B19V) infection and compare the 2023-2024 outbreak to prior decades.</p><p><strong>Method: </strong>A single tertiary center retrospective study (2005-2024) of all pregnancies with confirmed maternal B19V infection. Data on maternal, fetal, and neonatal outcomes were collected, with live birth rate as the primary outcome. Patients were divided into the 2023-2024 outbreak group and a control group (2005-2022) for comparison.</p><p><strong>Results: </strong>Among 124 patients, 51 comprised the outbreak group and 73 comprised the control group. The live birth rate was 90.3%. Fetal hydrops (OR 18.0, 95% CI 2.12-153.03), intra-uterine transfusion (IUT) requirement (OR 1.33, 95% CI 1.09-1.69) and an earlier gestational age at first IUT (OR 0.6, 95% CI 0.37-0.96) were associated with decreased perinatal survival. The outbreak group presented earlier (15.5 [IQR 10.2-20.4] vs. 19.5 [IQR 15.0-23.0], p = 0.04), and had a higher fetal viral load (cycle threshold value 11.5 [IQR 7.54-13.57] vs. 16.63 [IQR 13.42-20.59], p = 0.01). However, rates of hydrops, indication for IUT, perinatal survival, abnormal CNS findings, and neonatal outcomes did not differ between the groups.</p><p><strong>Conclusions: </strong>Fetal hydrops and an earlier indication for IUT were predictors of IUFD. Despite earlier presentation and higher viral load, the outbreak did not worsen perinatal outcomes.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-07-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144708569","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":"Clinical Implications of Noninvasive Prenatal Testing Failures Due to Low Fetal Fraction: Associations With Adverse Maternal and Fetal Outcomes.","authors":"Yuan Ren, Na Hao, Jiazhen Chang, Yulin Jiang, Qingwei Qi, Xiya Zhou, Jingwen Zhou, Yingna Song, Juntao Liu","doi":"10.1002/pd.6852","DOIUrl":"https://doi.org/10.1002/pd.6852","url":null,"abstract":"<p><strong>Objective: </strong>To identify risk factors associated with noninvasive prenatal testing (NIPT) failures due to a low fetal fraction (LFF, < 4%) and to evaluate appropriate management strategies.</p><p><strong>Methods: </strong>This was a single retrospective cohort study conducted on consecutive NIPT procedures performed at a national prenatal diagnosis center between April 2016 and June 2022.</p><p><strong>Results: </strong>Among the 41,693 NIPT procedures conducted at Peking Union Medical College Hospital, 524 cases (1.3%) failed due to LFF. Testing failures were associated with an increased risk of rare fetal chromosomal abnormalities (OR 18.9). Independent risk factors for NIPT failure included antiphospholipid syndrome (OR 19.7), rare fetal chromosomal abnormalities (OR 17.9), body mass index ≥ 25 kg/m² (OR 8.1), low molecular weight heparin administration (OR 7.7), systemic lupus erythematosus (OR 6.1), and dichorionic twins (OR 2.1). NIPT failure was also associated with a higher incidence of gestational hypertension (2.9% vs. 0.7%; OR 4.0), preeclampsia (9.1% vs. 1.0%; OR 10.4), gestational diabetes mellitus (26.0% vs. 11.8%; OR 2.6), fetal growth restriction (4.7% vs. 0.9%; OR 5.4), spontaneous abortion (2.4% vs. 0.6%; OR 4.1), and preterm birth (10.0% vs. 3.6%; OR 3.0).</p><p><strong>Conclusions: </strong>Pregnancies with NIPT failures are at a heightened risk for fetal chromosomal abnormalities and placenta-mediated complications, highlighting the need for enhanced monitoring and individualized management during perinatal care.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-07-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144699259","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 Arrival of Exome Sequencing in French Prenatal Diagnosis: An Exploratory Qualitative Study Among Professionals in Prenatal Diagnosis Centers: Prenatome-SHS.","authors":"Charlène Daval, Nicolas Meunier-Beillard, Eléonore Viora-Dupont, Julian Delanne, Aurore Garde, Caroline Racine, Frédéric Tran Mau-Them, Anne-Sophie Denommé-Pichon, Christophe Philippe, Ange-Line Bruel, Hana Safraou, Sylvie Odent, Chloé Quélin, Marine Legendre, Sophie Naudion, Médéric Jeanne, Marie-Line Jacquemont, Agnès Guichet, Camille Saldana, Anne-Marie Guerrot, Alice Goldenberg, Caroline Guégan, Marie Vincent, Audrey Putoux, Christine Francannet, Constance Wells, Chloé Arthuis, Elodie Alexandre, Thierry Rousseau, Olivia Martz, Emilie Simon, Ornella Magnien, Fanny Bobert, Sophie Bert, Frédéric Coatleven, Fanny Reveyaz, Perrine Moulinié, Christine Binquet, Christel Thauvin-Robinet, Laurence Faivre","doi":"10.1002/pd.6863","DOIUrl":"https://doi.org/10.1002/pd.6863","url":null,"abstract":"<p><strong>Objective: </strong>Following the first French multicenter pilot study (AnDDI-Prenatome) focused on the implementation of prenatal exome sequencing (pES), this ancillary study aims to explore the ethical and clinical issues raised by pES within multidisciplinary prenatal diagnosis centers.</p><p><strong>Methods: </strong>33 healthcare professionals involved in the management of couples undergoing prenatal diagnosis (PND) took part in focus groups (2 with clinical geneticists, 3 with professionals from multidisciplinary prenatal diagnosis centers (MPDC), 1 with biologists). Each focus group was analyzed using the thematic analysis method.</p><p><strong>Results: </strong>Professionals emphasized the importance of having a clear understanding of pES and the criteria for its prescription. Geneticists highlighted the need for a framework to clarify the implications of consent for patients and stressed the importance of offering structured support to assist couples in their decision-making process. Biologists and geneticists expressed a desire for effective multidisciplinary coordination of the care pathway, particularly in situations where the results were uncertain.</p><p><strong>Conclusion: </strong>These results will help to establish French recommendations for the prescription of pES.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-07-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144691330","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":"Yield of Exome Sequencing for Mendelian Disorders Screening in Asymptomatic Fetuses Undergoing Prenatal Diagnosis: A Retrospective Analysis of 1766 Cases.","authors":"Guan Wang, Ting Xue, Tian Xie, Min Liang, Longsheng Zhan, Junwei Lin, Xiumin Huang, Jinxin Luo, Qi Tian, Jun Zhang","doi":"10.1002/pd.6853","DOIUrl":"https://doi.org/10.1002/pd.6853","url":null,"abstract":"<p><strong>Objective: </strong>We aimed to evaluate the yield of exome sequencing (ES) as a routine screening test for Mendelian disorders in asymptomatic fetuses undergoing prenatal diagnosis, with a focus on identifying gene variants associated with moderate to severe diseases.</p><p><strong>Methods: </strong>A total of 2593 fetuses underwent prenatal ES (pES) testing at the Third Affiliated Hospital of Sun Yat-Sen University between 2021 and 2022. Out of these, we excluded 827 pES datasets from fetuses with abnormal ultrasound findings, as well as those with a confirmed/suspected family history of Mendelian disorders. Consequently, a cohort of 1766 singleton ES datasets from asymptomatic fetuses was included in this study and subsequently subjected to retrospective analysis.</p><p><strong>Results: </strong>We identified 25 cases with 30 variants in 23 genes that may present with moderate to severe diseases, giving a yield of 1.42% (25/1766). Among these genes, 73.91% were associated with autosomal dominant (AD) inheritance, 21.74% with autosomal recessive (AR) inheritance, and 4.35% with X-linked recessive (XLR) inheritance. Of the 30 identified variants, 23.33% were classified as pathogenic, 73.33% as likely pathogenic, and 3.33% as variants of uncertain significance. The types of variants included missense (23.33%), nonsense (33.33%), frameshift deletion (26.67%), splicing region (13.33%), and inframe deletion (3.33%). Clinically, 40% (10/25) of the cases were at risk of severe diseases, and 60% (15/25) of the cases were at risk of moderate diseases. Of the positive cases, 92% (23/25) were liveborn, and 73.91% (17/23) were effectively followed up to the age of three. Among these 17 cases, two exhibited clinical presentations that highly met the criteria for ES findings, while two exhibited clinical presentations that partially met the criteria.</p><p><strong>Conclusion: </strong>The findings of this study suggest that application of ES as a routine test in asymptomatic fetuses undergoing prenatal diagnosis could enhance the detection of Mendelian disorders, thereby providing information to parents about the health of their fetus, providing them with reproductive options, as well as providing the potential for medical interventions prenatally or postnatally. However, challenges may arise in variant interpretation in the absence of phenotype, along with the risk of uncertain outcomes for positive cases.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-07-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144691331","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":"A Prospective Evaluation of the Diagnostic Utility for Low-Coverage Genome Sequencing in Prenatal Samples: A Comparison With Chromosomal Microarray Analysis.","authors":"Yan Yin, Yuxia He, Chun Chen, Yanyan He, Jin Wang, Shengfang Qin, Hongna Wang, Kun Ma, Dahui Hu, Rui Xiao, Gang Wang, Xueyan Wang","doi":"10.1002/pd.6840","DOIUrl":"https://doi.org/10.1002/pd.6840","url":null,"abstract":"<p><strong>Objective: </strong>The present study aimed to evaluate the efficacy of LC-GS in detecting clinically relevant chromosomal abnormalities in comparison with conventional CMA within a prenatal context.</p><p><strong>Methods: </strong>We conducted a prospective study involving 200 amniotic fluid samples. All specimens were analyzed via LC-GS and traditional tests, including CMA and karyotyping. LC-GS was performed with 3X coverage to gauge its proficiency in identifying copy number variations (CNVs), aneuploidies, regions of homozygosity (ROH), and chromosome mosaicism. Data from both methods were compared to evaluate their sensitivity, specificity, and overall clinical utility.</p><p><strong>Results: </strong>LC-GS at a depth of 3X identified a total of 77 positive samples, yielding a detection rate of 38.5% (77/200). This included 17 cases of aneuploidy, 36 instances of CNVs, 20 cases linked to ROH, and 8 cases of chromosomal mosaicism. LC-GS demonstrated high concordance with CMA in aneuploidy, CNVs, ROH, and chromosomal mosaicism, achieving a diagnostic yield of 21% (42/200), with additional benefits of reduced cost. Moreover, LC-GS outperformed CMA in terms of resolution for identifying submicroscopic CNVs.</p><p><strong>Conclusion: </strong>LC-GS presents a robust alternative to CMA for prenatal diagnosis, effectively identifying aneuploidies, CNVs, chromosomal mosaicism, and ROH. It delivers comparable sensitivity and specificity in the detection of a wide spectrum of genomic abnormalities.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-07-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144567714","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":"Prenatal Diagnosis of Horseshoe Lung: A Report of Three Cases and Review of the Literature.","authors":"Benjamin Birene, Paul Maurice, Catherine Garel, Blandine Prevost, Yohan Soreze, Maud Chabaud, Jean-Marie Jouannic","doi":"10.1002/pd.6814","DOIUrl":"10.1002/pd.6814","url":null,"abstract":"<p><strong>Objective: </strong>Horseshoe lung is a rare congenital malformation in which the lungs are fused by a parenchymal isthmus. The current literature is very limited regarding cases of prenatal diagnosis and their outcome.</p><p><strong>Method: </strong>We retrospectively examined three cases of fetuses with horseshoe lung diagnosed antenatally in our center from 2015 to 2024. Additionally, we performed a literature review using a PubMed search (MESH terms: \"horseshoe lung\" then \"horseshoe lung\" AND \"prenatal\").</p><p><strong>Results: </strong>One case was diagnosed by magnetic resonance imaging (MRI) and two by ultrasound with MRI confirmation. Two patients were referred to our center for diaphragmatic hernia (with a sac in one case). The third patient was referred because of a thoracic aorta on the very left side. After birth, costal anomalies, agenesis of the body and tail of the pancreas, and an associated pelvic kidney were diagnosed. All neonates were presented with acute respiratory distress; two had a favorable outcome, and the third died within the first few days of life.</p><p><strong>Conclusion: </strong>Horseshoe lung can be diagnosed by ultrasound. The prognostic implications of this malformation remain unclear, particularly given its frequent association with other anomalies, which often are the primary determinants of outcomes.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":"1027-1038"},"PeriodicalIF":2.7,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12254439/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144045244","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}

{"title":"Diffusion Tensor Imaging of Fetuses With Congenital Diaphragmatic Hernia.","authors":"Usha D Nagaraj, Jonathan A Dudley, Kristin Lam, Beth M Kline-Fath, Stephanie L Merhar, Francesco T Mangano, Weihong Yuan","doi":"10.1002/pd.6835","DOIUrl":"10.1002/pd.6835","url":null,"abstract":"<p><strong>Objective: </strong>To evaluate differences in diffusion tensor imaging (DTI) parameters in the brain between fetuses with congenital diaphragmatic hernia (CDH) and age-matched controls.</p><p><strong>Method: </strong>This retrospective IRB-approved study included fetal MRIs for CDH and gestational age (GA) matched controls with lung pathology other than CDH with normal fetal brains. Fetal DTI data were acquired in 15 noncollinear diffusion-weighting directions with the b-value at 600 s/mm² (1 b0). Slice-to-volume registration (SVR) was employed to correct for motion artifact.</p><p><strong>Results: </strong>Twenty-eight controls (27.3 ± 4.1 weeks GA) and 26 CDH (28.1 ± 4.2 weeks GA) fetuses were included. Fractional anisotropy (FA) values were significantly higher (p < 0.05) in CDH fetuses relative to controls in 12 of 50 white matter (WM) regions examined based on ANCOVA controlling for GA. After controlling for GA, sex, and CDH side, FA values in the CDH fetuses had a significant positive correlation with observed-to-expected lung volumes in 20 of 50 WM regions and with percent predicted lung volumes in 29 of 50 WM regions.</p><p><strong>Conclusion: </strong>Our data demonstrate evidence of microstructural differences based on DTI indices in the brain between CDH fetuses and age-matched controls along with correlation with the degree of pulmonary hypoplasia.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":"1045-1052"},"PeriodicalIF":2.7,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12254437/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144275798","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}

{"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":"<p><strong>Objective: </strong>To assess parental preferences, expectations and understanding of genome-wide cell-free DNA screening (gwNIPT) in Australia.</p><p><strong>Method: </strong>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.</p><p><strong>Results: </strong>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).</p><p><strong>Conclusion: </strong>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.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":"994-1003"},"PeriodicalIF":2.7,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12254435/pdf/","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":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}