Prenatal Diagnosis最新文献_第7页

Evaluating How Beliefs Among Pediatric Cardiology Providers May Affect Fetal Cardiac Counseling-A National Perspective. 评估儿科心脏病提供者的信念如何影响胎儿心脏咨询-国家视角。

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2024-11-29 DOI: 10.1002/pd.6706

Caitlin S Haxel, Christina Ronai, Anna M Martens, Chelsey C Lim, Nelangi Pinto, Joanne S Chiu

{"title":"Evaluating How Beliefs Among Pediatric Cardiology Providers May Affect Fetal Cardiac Counseling-A National Perspective.","authors":"Caitlin S Haxel, Christina Ronai, Anna M Martens, Chelsey C Lim, Nelangi Pinto, Joanne S Chiu","doi":"10.1002/pd.6706","DOIUrl":"https://doi.org/10.1002/pd.6706","url":null,"abstract":"Background: Prenatal counseling following a fetal diagnosis of critical congenital heart disease (CCHD) is challenging and requires delivery of detailed and complete information to ensure appropriate decision making and pregnancy support.Methods: An anonymous 50-item survey was distributed to providers who performed fetal cardiac counseling. The primary purpose was to evaluate on a national scale physician beliefs and attitudes toward available choices after a fetal diagnosis of CCHD and their association with reported counseling practices. Participants were specifically asked to indicate how likely they were to recommend postnatal interventional and/or surgical treatment, postnatal palliative care, or termination of pregnancy. The primary outcome variables were provider responses to statements about pregnancies complicated by CCHD diagnosed in utero.Results: There were 138 respondents, with most somewhat or strongly agreeing that providing counseling on surgical and catheter-based interventions anticipated in the short- and long-term (99%, 136/138), counseling on a \"comfort care\" alternative with limited intervention (97%, 134/138), and options for pregnancy termination at different stages (91%, 126/138) should be included. Physicians that disagreed with the statement \"some life is better than no life at all\" were statistically more likely (p < 0.001) to report that prenatal counseling regarding \"options for pregnancy termination services at different stages of pregnancy\" was important. There was a statistically significant difference in the counseling provided to parents based on the physician's personal and professional views on palliative care and termination of pregnancy.Conclusion: Physicians' self-reported beliefs impact the counseling content provided to families in the setting of a prenatal diagnosis of CCHD.","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2024-11-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142754956","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

Navigating the Ethical Landscape of the Artificial Placenta: A Systematic Review. 导航人工胎盘的伦理景观：系统综述。

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2024-11-28 DOI: 10.1002/pd.6711

Alice Cavolo, Angret de Boer, Lien De Proost, E J Verweij, Chris Gastmans

{"title":"Navigating the Ethical Landscape of the Artificial Placenta: A Systematic Review.","authors":"Alice Cavolo, Angret de Boer, Lien De Proost, E J Verweij, Chris Gastmans","doi":"10.1002/pd.6711","DOIUrl":"https://doi.org/10.1002/pd.6711","url":null,"abstract":"This systematic review aims at presenting the ethical debate on the artificial placenta (AP) by identifying, distinguishing, and organizing the different ethical arguments described in the literature. Articles were selected based on predefined inclusion criteria: discussing ethical arguments, on AP, written in English. QUAGOL methodology was used for analysis. Forty-five articles were included. We identified three themes. First, foundational-ethical issues. There is disagreement on whether the AP subject should be considered an infant or a new moral entity. While physiologically it stays in the fetus, it sits outside the womb. Second, reproductive ethics issues. Few authors believed that the AP would increase reproductive choices. The majority warned that the AP could limit reproductive choices by creating pressure to use it in healthy pregnancies or as an alternative to abortion. Third, research ethics issues. Publications mostly focused on the selection of the in-human trial participants. We concluded that AP ethical literature focuses mostly on the potential use of AP as an alternative to abortion or healthy pregnancies rather than on its intended use as a treatment after extremely premature birth. Therefore, we conclude that the current ethical literature on AP is imbalanced: it leans more toward science fiction than actual clinical and technological reality.","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2024-11-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142751458","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

Parental Somatic Mosaicism Detected During Prenatal Diagnosis. 产前诊断中检测到的父母体细胞嵌合。

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2024-11-25 DOI: 10.1002/pd.6712

Natalie J Chandler, Elizabeth Scotchman, Fiona McKay, Vijaya Ramachandran, Lyn S Chitty

{"title":"Parental Somatic Mosaicism Detected During Prenatal Diagnosis.","authors":"Natalie J Chandler, Elizabeth Scotchman, Fiona McKay, Vijaya Ramachandran, Lyn S Chitty","doi":"10.1002/pd.6712","DOIUrl":"https://doi.org/10.1002/pd.6712","url":null,"abstract":"Objective: Accurate recurrence risks are essential for genomic counselling and parental reproductive choices. Historically, Sanger sequencing was used to test parental samples, which has a limited sensitivity of ∼ 10% for detecting somatic mosaicism. Next generation sequencing (NGS) methods, utilised for non-invasive prenatal diagnosis (NIPD) and trio prenatal exome sequencing in our laboratory, have greater sensitivity. Here we review the cases of parental somatic mosaicism we have detected and discuss its impact on management.Method: Laboratory databases from 1 January 2015 to 30 September 2022 were reviewed to identify all cases where parental somatic mosaicism was detected during NIPD and prenatal exome testing.Results: During the development of NIPD testing, we identified 10/131 (7.6%) families with parental somatic mosaicism. In six cases where NGS detected levels between 0.37% and 8.82%, prior testing with Sanger sequencing had not detected mosaicism. In our exome sequencing cohort, we detected parental mosaicism in 4/101 (3.96%) cases. Clinical features of the condition were identified in 2/14 parents.Conclusion: The sensitivity of the testing technique needs to be considered when counselling parents on recurrence risk. Parents need to be aware that modern approaches to prenatal diagnosis may allow identification of mosaicism, which may have implications for their own health and change recurrence risks for future pregnancies.","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2024-11-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142716856","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

Exome Sequencing in Fetuses With Bilateral Renal Agenesis Identified on Second Trimester Ultrasound: A Single Referral Center Experience. 第二孕期超声检查发现双侧肾发育不全胎儿的外显子组测序：单个转诊中心的经验

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2024-11-12 DOI: 10.1002/pd.6705

Qiu-Xia Yu, Li Zhen, Zhi-Qing Xiao, Yun-Jing Wen, Dong-Zhi Li

{"title":"Exome Sequencing in Fetuses With Bilateral Renal Agenesis Identified on Second Trimester Ultrasound: A Single Referral Center Experience.","authors":"Qiu-Xia Yu, Li Zhen, Zhi-Qing Xiao, Yun-Jing Wen, Dong-Zhi Li","doi":"10.1002/pd.6705","DOIUrl":"https://doi.org/10.1002/pd.6705","url":null,"abstract":"Objective: To determine the exome sequencing results in fetuses with bilateral renal agenesis (BRA).Methods: This was a retrospective study of 14 cases with BRA diagnosed on second trimester anatomy ultrasound. All cases underwent invasive prenatal diagnosis. Genetic investigations were performed by chromosomal microarray analysis and trio exome sequencing. Clinical and laboratory data were collected and reviewed for these cases, including maternal demographics, prenatal sonographic findings, molecular sequencing results, and pregnancy outcomes.Results: Pathogenic and likely pathogenic variants in three genes (FRAS1, PBX1, and KMT2D) were detected by exome sequencing in 6 (6/14) cases. One gene (FRAS1) is inherited in an autosomal recessive (AR) manner and two (PBX1 and KMT2D) are autosomal dominant (AD); both AD variants were de novo. Only the FRAS1 variants were detected in more than one case. Variants in five cases were believed to be the cause of BRA, and the variants detected in PBX1 and KMT2D were likely the cause of fetal phenotype suggesting that the two genes can present with BRA. The yield of exome sequencing in our series is one third (4/12) after excluding two families with a previous family history.Conclusion: Fraser syndrome, resulting from FRAS1 variants, is the most common cause of genetic BRA identified in this specific cohort. The determination of genetic etiology will be valuable in the possible choices for pregnancy management and risk assessment of recurrence in future pregnancies.","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2024-11-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142626347","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

Use of Prenatal Exome Sequencing: Opinion Statement of the French Federation of Human Genetics Working Group. 产前外显子组测序的使用：法国人类遗传学联合会工作组的意见陈述。

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2024-11-12 DOI: 10.1002/pd.6692

Guillaume Cogan, Marie-Bérengère Troadec, Françoise Devillard, Marie-Hélène Saint-Frison, David Geneviève, François Vialard, Emmanuelle Rial-Sebbag, Delphine Héron, Tania Attie-Bitach, Alexandra Benachi, Pascale Saugier-Veber

{"title":"Use of Prenatal Exome Sequencing: Opinion Statement of the French Federation of Human Genetics Working Group.","authors":"Guillaume Cogan, Marie-Bérengère Troadec, Françoise Devillard, Marie-Hélène Saint-Frison, David Geneviève, François Vialard, Emmanuelle Rial-Sebbag, Delphine Héron, Tania Attie-Bitach, Alexandra Benachi, Pascale Saugier-Veber","doi":"10.1002/pd.6692","DOIUrl":"https://doi.org/10.1002/pd.6692","url":null,"abstract":"Objective: Prenatal whole exome sequencing (pES) is increasingly prescribed for fetuses with ultrasound anomalies. Starting from the local French prenatal medicine practice, healthcare system and legal landscape, we aimed to address the broad medical and ethical issues raised by the use of pES for women and couples as well as for prenatal care providers.Method: The French Federation of Human Genetics established a working group composed of clinicians and biologists from all over France to discuss pES challenges. A literature review was also performed.Results: We emphasize the importance of non-directive information that helps couples make a decision that is consistent with their personal values and ideas. We address the difficulty of obtaining informed consent that respects the couple's autonomy, despite the complexity of the information and regardless of their level of education and cultural background. We address whether variants of uncertain significance and unsolicited results should be reported. We emphasize the need for national harmonization of access to pES and the need for multidisciplinary meetings in complex situations. We point out that the specific French context of healthcare financing and the French law have a major influence on medical care organization and support for couples. The outcome of the working group is the development of 12 proposals.Conclusion: This opinion statement, dedicated to prenatal care providers worldwide although linked to the French context, will provide food for thought and assist them in understanding the complexity and implications of pES.","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2024-11-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142626490","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

'I Could Trust It': Experiences of Reciprocal Translocation Carriers and Their Partners With Prenatal Cell-Free DNA Screening for Unbalanced Translocations. 我可以信任它"：互作易位携带者及其伴侣在产前进行无细胞 DNA 非平衡易位筛查的经历。

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2024-11-06 DOI: 10.1002/pd.6696

Marta Cifuentes Ochoa, Alison Dalton Archibald, Nicola Jane Flowers, Mark Domenic Pertile

{"title":"'I Could Trust It': Experiences of Reciprocal Translocation Carriers and Their Partners With Prenatal Cell-Free DNA Screening for Unbalanced Translocations.","authors":"Marta Cifuentes Ochoa, Alison Dalton Archibald, Nicola Jane Flowers, Mark Domenic Pertile","doi":"10.1002/pd.6696","DOIUrl":"https://doi.org/10.1002/pd.6696","url":null,"abstract":"Objective: To explore the experiences of people having cfDNA screening to detect unbalanced translocations, and to understand motivations for choosing this option.Methods: We used a qualitative approach with in-depth semi-structured interviews with reciprocal translocation carriers and their partners. People who underwent cfDNA screening with translocation analysis through Victorian Clinical Genetics Services between 2015 and 2019 were invited to take part. Purposive sampling based on the participant's geographic location, requesting practitioner specialty and cfDNA screening result was used to capture a range of experiences. Interview transcripts were analysed using thematic analysis.Results: Participants (n = 13) had complex reproductive journeys associated with the translocation and opted for cfDNA screening rather than prenatal diagnosis to avoid risk to their pregnancy. Participants benefited from having a result early in pregnancy and had sufficient confidence in the result to decline a diagnostic testing procedure.Conclusion: Participants' experiences with cfDNA screening were intertwined with the experience of being a carrier of a reciprocal translocation. cfDNA screening with translocation analysis was perceived as an acceptable alternative to prenatal diagnosis and should be made more accessible to balanced translocation carriers. Access to specialist genetic counselling services is needed to ensure couples are provided with information about all prenatal testing options, including the benefits and limitations associated with cfDNA screening with translocation analysis.","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2024-11-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142591164","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

Heterozygous Beta-Thalassaemia in Pregnancy: Two Rare Causes of Severe Fetal Anemia Requiring Intrauterine Blood Transfusions. 妊娠期异型β-地贫：需要宫内输血的严重胎儿贫血症的两种罕见病因。

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2024-11-02 DOI: 10.1002/pd.6695

Eva van der Meij, Frans J W Smiers, Tamara T Koopmann, Ingrid Krapels, Kaatje LePoole, Enrico Lopriore, Johanna M Middeldorp, Claudia S Ootjers, Volkher Scharnhorst, Hubertina C J Scheepers, Cornelis L Harteveld, E J T Joanne Verweij

{"title":"Heterozygous Beta-Thalassaemia in Pregnancy: Two Rare Causes of Severe Fetal Anemia Requiring Intrauterine Blood Transfusions.","authors":"Eva van der Meij, Frans J W Smiers, Tamara T Koopmann, Ingrid Krapels, Kaatje LePoole, Enrico Lopriore, Johanna M Middeldorp, Claudia S Ootjers, Volkher Scharnhorst, Hubertina C J Scheepers, Cornelis L Harteveld, E J T Joanne Verweij","doi":"10.1002/pd.6695","DOIUrl":"https://doi.org/10.1002/pd.6695","url":null,"abstract":"Aim: In this article, we present two cases of severe fetal hemolytic anemia based on a beta-thalassaemia trait inherited from a single parent.Results: These cases, presented at 20 and 28 weeks' gestation, necessitated intra-uterine blood transfusions. This occurrence is remarkable because it challenges the common assumption that beta-thalassaemia typically has no prenatal implications regarding fetal anemia. Both fetuses inherited a rare heterozygous mutation from their mother, resulting in gamma-thalassaemia-related anemia. In the first case, the anemia was related to a deletion in the beta locus control region (βLCR) and in the second case, a deletion on chromosome 11p15.4 was the cause. These mutations not only affect the beta chain production, but also the gamma chain production, leading to a reduction in the synthesis of HbF, ineffective erythropoiesis and consequently, perinatal hemolytic anemia.Conclusion: Clinicians should be vigilant regarding these rare mutations in families with a history of beta-thalassaemia as the fetal clinical consequences can be severe and intra-uterine blood transfusions may prove life-saving for these fetuses.","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2024-11-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142564732","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

Role of Amniotic Fluid Toxicity in the Pathophysiology of Myelomeningocele: A Narrative Literature Review. 羊水中毒在脊髓脊膜膨出症病理生理学中的作用：叙述性文献综述。

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2024-11-01 Epub Date: 2024-10-06 DOI: 10.1002/pd.6681

Yoann Athiel, Jean-Marie Jouannic, Matthieu Lépine, Corentin Maillet, Timothée de Saint Denis, Jérôme Larghero, Lucie Guilbaud

{"title":"Role of Amniotic Fluid Toxicity in the Pathophysiology of Myelomeningocele: A Narrative Literature Review.","authors":"Yoann Athiel, Jean-Marie Jouannic, Matthieu Lépine, Corentin Maillet, Timothée de Saint Denis, Jérôme Larghero, Lucie Guilbaud","doi":"10.1002/pd.6681","DOIUrl":"10.1002/pd.6681","url":null,"abstract":"Myelomeningocele is a birth defect whose clinical manifestations are due both to incomplete neural tube closure and the progressive destruction of exposed neuroepithelium during pregnancy. Two hypotheses have been formulated to explain the spinal cord damage in utero: mechanical trauma and chemical factors. The objective of this review was to summarize the current insights about the potential role of amniotic fluid in spinal cord damage in myelomeningocele. Numerous histological and clinical data on animals and humans strongly suggest a progressive degeneration of neural tissue including loss of neural cells, astrogliosis, inflammation, and loss of normal architecture. However, few data have been published about the direct toxicity of amniotic fluid in this neural degeneration, including the potentially toxic effect of meconium. Finally, the chemical and cellular modifications of amniotic fluid composition in myelomeningocele could reflect both the process (toxic effect of meconium) and the consequences of neuroepithelium destruction (release of neural cells). Fetal surgery not only stops the leakage of the cerebrospinal fluid but also reduces the toxic effect of amniotic fluid by restoring the intrauterine environment. Identification of amniotic fluid neurotoxic factors could lead to the development of therapeutic agents designed to protect spinal tissue and improve fetal myelomeningocele outcomes.","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":"1530-1535"},"PeriodicalIF":2.7,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142381526","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

Potentially Missed Diagnoses in Prenatal Versus Postnatal Exome Sequencing in the Lack of Informative Phenotype: Lessons Learned From a Postnatal Cohort. 在缺乏信息表型的情况下，产前与产后外显子组测序的潜在漏诊：从产后队列中汲取的教训》。

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2024-11-01 Epub Date: 2024-09-05 DOI: 10.1002/pd.6659

Dana Brabbing-Goldstein, Lily Bazak, Noa Ruhrman-Shahar, Gabriel Arie Lidzbarsky, Naama Orenstein, Marina Lifshiz-Kalis, Nurit Asia-Batzir, Yael Goldberg, Lina Basel-Salmon

{"title":"Potentially Missed Diagnoses in Prenatal Versus Postnatal Exome Sequencing in the Lack of Informative Phenotype: Lessons Learned From a Postnatal Cohort.","authors":"Dana Brabbing-Goldstein, Lily Bazak, Noa Ruhrman-Shahar, Gabriel Arie Lidzbarsky, Naama Orenstein, Marina Lifshiz-Kalis, Nurit Asia-Batzir, Yael Goldberg, Lina Basel-Salmon","doi":"10.1002/pd.6659","DOIUrl":"10.1002/pd.6659","url":null,"abstract":"Objective: To investigate how many novel pathogenic (P) and likely pathogenic (LP) nonprotein-truncating or noncanonical splicing variants would be classified as variants of unknown significance (VUS) if they were detected in fetuses without abnormalities.Methods: The study included 156 patients with neurodevelopmental disorders diagnosed through postnatal exome sequencing. Causative P/LP nonprotein-truncating and noncanonical splicing variants were retrospectively reclassified in cases without specific prenatal manifestations, disregarding postnatal symptoms.Results: Of the 156 patients, 72 had a nontruncating or noncanonical splicing variant. Six patients were excluded for having more than one possible causative variant. Twelve patients had prenatal malformations known to be associated with the diagnosed disorder; therefore, variant interpretation remained unchanged. In 33 of the 54 remaining cases, the variant had been previously reported as P/LP. Reclassification of the other 21 LP/P variants revealed that 16 would have been classified as VUS if detected prenatally.Conclusion: In our cohort, ∼24% (16/66) of causative nonprotein-truncating/noncanonical splicing variants would have been classified as VUS if sequencing had been conducted during pregnancy. The potential for false-negative results, stemming from limitations in the phenotypic information available prenatally, should be discussed with prospective parents. The criteria for classifying and reporting variants in the prenatal setting may require adjustment.","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":"1423-1434"},"PeriodicalIF":2.7,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142140865","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

Predictive Indicators and Outcomes of Pregnancies Affected by Stage I Twin-Twin Transfusion Syndrome Treated With Fetoscopic Laser Photocoagulation. 采用胎腔镜激光光凝术治疗受 I 期双胎输血综合征影响的孕妇的预测指标和预后。

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2024-11-01 Epub Date: 2024-10-17 DOI: 10.1002/pd.6691

Maiko Wagata, Seiji Wada, Haruhiko Sago, Makiko Shimabukuro, Masahiko Nakata, Shigenori Iwagaki, Yuichiro Takahashi, Hiroko Konno, Takeshi Murakoshi, Keisuke Ishii

{"title":"Predictive Indicators and Outcomes of Pregnancies Affected by Stage I Twin-Twin Transfusion Syndrome Treated With Fetoscopic Laser Photocoagulation.","authors":"Maiko Wagata, Seiji Wada, Haruhiko Sago, Makiko Shimabukuro, Masahiko Nakata, Shigenori Iwagaki, Yuichiro Takahashi, Hiroko Konno, Takeshi Murakoshi, Keisuke Ishii","doi":"10.1002/pd.6691","DOIUrl":"10.1002/pd.6691","url":null,"abstract":"Objective: The significance of fetoscopic laser photocoagulation (FLP) in stage I twin-twin transfusion syndrome (TTTS) remains controversial. This study aimed to clarify the outcomes and prognostic factors of stage I TTTS after FLP.Method: We conducted a retrospective cohort study on patients with stage I TTTS who underwent FLP in Japan. The primary outcome was neonatal survival at 28 days. The adjusted odds ratios (aOR) of pre- and intraoperative factors for mortality in recipient and donor twins were calculated.Results: This study included 272 twin pairs. The survival rate of at least one twin and both twins was 98% (267 pairs) and 85% (232 pairs), respectively. Survival of the recipient twin was observed in 253 cases (93%). No factor was associated with the mortality of the recipients. Among the donor twins, 246 (90%) survived. Preoperative twin anemia-polycythemia sequence (aOR, 17.45; 95% CI, 3.16-96.31) and arterio-arterial vascular anastomosis (AAA) identified at FLP (aOR, 2.78; 95% CI, 1.10-7.06) were independently associated with mortality of the donors.Conclusion: The neonatal survival rate for both recipient and donor twins was > 90% among patients with stage I TTTS who underwent FLP. AAA is a risk factor for mortality in donors following FLP, though the pathophysiology of AAA remains to be clarified.","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":"1548-1555"},"PeriodicalIF":2.7,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142472959","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