Prenatal Diagnosis最新文献_第7页

Proposal for standardized prenatal assessment of fetal open dysraphisms by the European reference network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies (ITHACA) and eUROGEN. 欧洲智障、远程保健、自闭症和先天性畸形参考网络 (ITHACA) 和 eUROGEN 提出的胎儿开放性发育不良产前标准化评估建议。

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2024-08-01 Epub Date: 2024-06-19 DOI: 10.1002/pd.6618

Lucie Guilbaud, Elena Carreras, Catherine Garel, Nerea Maiz, Ferdinand Dhombres, Jan Deprest, Jean-Marie Jouannic

{"title":"Proposal for standardized prenatal assessment of fetal open dysraphisms by the European reference network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies (ITHACA) and eUROGEN.","authors":"Lucie Guilbaud, Elena Carreras, Catherine Garel, Nerea Maiz, Ferdinand Dhombres, Jan Deprest, Jean-Marie Jouannic","doi":"10.1002/pd.6618","DOIUrl":"10.1002/pd.6618","url":null,"abstract":"Open dysraphisms, that is, myelomeningocele and myeloschisis, are rare diseases associated with a risk of severe disability, including lower limb motor and sensory deficiency, sphincter deficiency, and potential intellectual deficiency. Open dysraphism is diagnosed in Europe in 93.5% of cases. In case of suspicion of fetal open dysraphism, a detailed fetal morphologic assessment is required to confirm the diagnosis and exclude associated structural anomalies, as well as genetic assessment. In case of isolated fetal open dysraphism, assessment of prognosis is based on fetal imaging including the level of the lesion, the presence or not of a sac, the presence and nature of intra cranial anomalies, and the anatomical and functional evaluation of the lower extremities. Based on these biomarkers, a personalized prognosis as well as comprehensive information about prenatal management alternatives will allow parents to decide on further management options. Standardization of prenatal assessment is essential to compare outcomes with benchmark data and make assessment of surgical innovation possible. Herein, we propose a protocol for the standardized ultrasound assessment of fetuses with isolated open dysraphism.","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":null,"pages":null},"PeriodicalIF":2.7,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141427433","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

Caudal regression in fetus with de novo SMARCA2 pathogenic variant. 患有SMARCA2新致病变异的胎儿尾椎退变

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2024-08-01 Epub Date: 2024-06-14 DOI: 10.1002/pd.6627

Michelle Joy Wang, Daniela A Febres-Cordero, Tabitha Poorvu, Paula Delerme, Jonathan Hecht, Yinka Oyelese, Barbara O'Brien, Millie Anne Ferrés

{"title":"Caudal regression in fetus with de novo SMARCA2 pathogenic variant.","authors":"Michelle Joy Wang, Daniela A Febres-Cordero, Tabitha Poorvu, Paula Delerme, Jonathan Hecht, Yinka Oyelese, Barbara O'Brien, Millie Anne Ferrés","doi":"10.1002/pd.6627","DOIUrl":"10.1002/pd.6627","url":null,"abstract":"Nicolaides-Baraitser syndrome (NCBRS) is a rare autosomal dominant genetic condition that is characterized by severe intellectual disability, dysmorphic facial features, short stature, sparse hair, and early onset seizures. This diagnosis is established by suggestive clinical findings and the identification of a heterozygous SMARCA2 pathogenic variant by molecular genetic testing. There are not, however, consensus clinical diagnostic criteria for this condition as there are so few documented cases. Here, we present a case of prenatally diagnosed caudal regression with sacral agenesis and congenital vertical talus (rocker bottom feet) that was ultimately found to have a de novo SMARCA2 pathogenic variant. The patient had an amniocentesis with normal karyotype and microarray followed by failed direct rapid whole exome sequencing (WES) due to maternal cell contamination. She elected for termination of the pregnancy based on the clinical prognosis of the ultrasound findings; WES revealed a pathogenic variant after her termination. We believe this is the first case of these findings associated with NCBRS. If any future cases of either finding are found in association with a SMARCA2 genetic variant, caudal regression and rocker bottom feet should be included in the spectrum of physical traits associated with this pathogenic variant.","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":null,"pages":null},"PeriodicalIF":2.7,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141321503","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

Gnathodiaphyseal dysplasia: Diagnostic clues from two fetal cases and literature review. 骺软骨发育不良：两个胎儿病例的诊断线索和文献综述。

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2024-08-01 Epub Date: 2024-06-23 DOI: 10.1002/pd.6631

Vivien Cuvelier, Detlef Trost, Morgane Stichelbout, Caroline Michot, Valérie Cormier-Daire, Nathalie Boutry, Elise Machet, Catherine Vincent-Delorme

{"title":"Gnathodiaphyseal dysplasia: Diagnostic clues from two fetal cases and literature review.","authors":"Vivien Cuvelier, Detlef Trost, Morgane Stichelbout, Caroline Michot, Valérie Cormier-Daire, Nathalie Boutry, Elise Machet, Catherine Vincent-Delorme","doi":"10.1002/pd.6631","DOIUrl":"10.1002/pd.6631","url":null,"abstract":"This article presents two fetal cases of gnathodiaphyseal dysplasia (GDD), a rare autosomal dominant disorder, and reviews the relevant literature. The cases involved two fetuses exhibiting bone bowing, which led to the diagnosis of GDD. Genetic testing revealed two de novo variants of the ANO5 gene, confirming the diagnosis. A literature review was conducted to explore GDD's clinical and paraclinical presentation, diagnosis, and management. GDD is a rare but frequently inherited cause of bone fragility and jaw lesions characterized by a gain-of-function variant within the ANO5 gene. Clinical manifestations range from recurrent dental infections with mild jaw lesions to severe bone fragility with several fractures associated with large jaw lesions requiring disfiguring surgeries. Diagnostic techniques depend on the context and include targeted genetic testing of ANO5, untargeted molecular analysis with whole-exome sequencing, or whole-genome sequencing. This case report highlights the importance of recognizing GDD as a novel cause of bone bowing and fractures during pregnancy. By summarizing the literature, this article contributes to healthcare professionals' knowledge and improves the recognition, diagnosis, and care of patients with GDD.","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":null,"pages":null},"PeriodicalIF":2.7,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141458825","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

Fetal bradycardia in open versus fetoscopic prenatal repair of spina bifida. 脊柱裂开放式与胎儿镜产前修复术中的胎儿心动过缓。

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2024-08-01 Epub Date: 2024-06-14 DOI: 10.1002/pd.6626

Steven T Papastefan, Amir M Alhajjat, Katherine C Ott, Daniel R Liesman, Morgan M Langereis, Anne C Boat, Xavier F Pombar, Michelle A Kominiarek, Robin M Bowman, Aimen F Shaaban

{"title":"Fetal bradycardia in open versus fetoscopic prenatal repair of spina bifida.","authors":"Steven T Papastefan, Amir M Alhajjat, Katherine C Ott, Daniel R Liesman, Morgan M Langereis, Anne C Boat, Xavier F Pombar, Michelle A Kominiarek, Robin M Bowman, Aimen F Shaaban","doi":"10.1002/pd.6626","DOIUrl":"10.1002/pd.6626","url":null,"abstract":"Objective: To compare the occurrence of fetal bradycardia in open versus fetoscopic fetal spina bifida surgery.Methods: This is a single-institution retrospective cohort study of patients undergoing open (n = 25) or fetoscopic (n = 26) spina bifida repair between 2017 and 2022. From October 2017 to June 2020, spina bifida repairs were performed via an open classical hysterotomy, and from November 2020 to June 2022 fetoscopic repairs were performed following transition to this technique. Fetal heart rate (FHR) in beats per minute (bpm) was recorded via echocardiography every 15 min during the procedure. Cohort characteristics, fetal bradycardia and maternal physiologic parameters were compared between the groups.Results: Fetuses undergoing an open repair more frequently developed bradycardia defined as <110 bpm (32% vs. 3.8%, p = 0.008), and a trend was observed for FHR decreases more than 25 bpm from baseline (20% vs. 3.8%, p = 0.073). Profound bradycardia less than 80 bpm was rare, occurring in only three operations (two in open, one in fetoscopic repair) with two fetuses (one in each group) requiring emergency cesarean delivery.Conclusion: When compared to open fetal surgery, fetal bradycardia occurred less frequently in fetoscopic surgery despite a significantly greater anesthetic exposure and the use of the intraamniotic carbon dioxide insufflation.","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":null,"pages":null},"PeriodicalIF":2.7,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141321444","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

Phenotypic and genotypic analysis of 11 fetal cases with Bardet-Biedl syndrome. 11 例巴代-比德尔综合征胎儿的表型和基因型分析。

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2024-08-01 Epub Date: 2024-06-05 DOI: 10.1002/pd.6619

Qiu-Xia Yu, Na Liu, Li Zhen, Xiao-Mei Lin, Yun-Jing Wen, Dong-Zhi Li

{"title":"Phenotypic and genotypic analysis of 11 fetal cases with Bardet-Biedl syndrome.","authors":"Qiu-Xia Yu, Na Liu, Li Zhen, Xiao-Mei Lin, Yun-Jing Wen, Dong-Zhi Li","doi":"10.1002/pd.6619","DOIUrl":"10.1002/pd.6619","url":null,"abstract":"Objective: To present the prenatal sonographic features and genomic spectrum of pregnancies with fetal Bardet-Biedl syndrome (BBS).Methods: This was a retrospective study of 11 cases with BBS diagnosed by prenatal ultrasound and confirmed by genetic testing. Clinical and laboratory data were collected and reviewed for these cases, including maternal demographics, prenatal sonographic findings, molecular testing sequencing results, and pregnancy outcomes.Results: All cases had unremarkable first-trimester ultrasound scans without reporting limb malformations. All had second-trimester abnormal ultrasounds: postaxial polydactyly in nine cases (9/11), renal abnormalities in seven (7/11), reduced amniotic fluid volume in two (2/11), central nervous system anomalies in two (2/11), and ascites in three (3/11). Ten fetuses presented with at least two-system anomalies, and one (Case 11) presented with only postaxial polydactyly. Variants were detected in five genes, including BBS2, ARL6/BBS3, BBS7, CEP290/BBS14 and IFT74/BBS22. Ten pregnancies were terminated in the second trimester, while one continued to term.Conclusion: Enlarged hyperechogenic kidneys and postaxial polydactyly are the two most common sonographic features of fetal BBS. Prenatal diagnosis of BBS can be done with ultrasound and genetic testing although the diagnosis may be made in the second trimester.","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":null,"pages":null},"PeriodicalIF":2.7,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141262646","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

Fetal phenotype and diagnosis of autosomal dominant Robinow syndrome due to novel DVL1 variant. 新型 DVL1 变体导致的常染色体显性罗宾诺综合征的胎儿表型和诊断。

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2024-08-01 Epub Date: 2024-07-09 DOI: 10.1002/pd.6632

Carly M Smith, Kristi Guinon, Suha Bachir, Christina G Tise

{"title":"Fetal phenotype and diagnosis of autosomal dominant Robinow syndrome due to novel DVL1 variant.","authors":"Carly M Smith, Kristi Guinon, Suha Bachir, Christina G Tise","doi":"10.1002/pd.6632","DOIUrl":"10.1002/pd.6632","url":null,"abstract":"Due to abnormal prenatal ultrasound findings of femoral shortening and flattened facial profile, a G2P0 pregnant patient underwent an amniocentesis at 15 weeks of gestation for proband-only exome sequencing. Bioinformatic filtering for genes included on the laboratory's extended skeletal dysplasia panel identified a heterozygous, likely pathogenic, frameshift variant in DVL1 NM_001330311.2:c.1575_1582dup; (p.Pro528ArgfsTer149). Pathogenic variants in DVL1 are associated with autosomal dominant Robinow syndrome (ADRS), a genetic disorder characterized by skeletal dysplasia with genital and craniofacial abnormalities. Prenatal ultrasound in the third trimester noted shortened long bones (first percentile for gestational age), macrocephaly with frontal bossing, short and upturned nose with a wide nasal root, triangular mouth, low pedal arches concerning for rocker-bottom feet, and ambiguous genitalia. A postnatal exam by Medical Genetics confirmed the prenatal findings in addition to hypertelorism, brachydactyly with broad thumbs and halluces, clinodactyly of second fingers, rigid gums with a frontal frenulum, and a sacral dimple. This case describes a novel variant in DVL1 identified in a fetus with prenatal and postnatal phenotypic features consistent with ADRS. To our knowledge, this is the first reported case of a prenatal molecular diagnosis of the dominant form of Robinow syndrome and the third case to describe prenatal ultrasound findings associated with this diagnosis.","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":null,"pages":null},"PeriodicalIF":2.7,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141564145","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

Fetoscopic Release of Amniotic Bands Based on the Evidence-A Systematic Review. 基于证据的胎儿镜羊膜带松解术--系统性综述。

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2024-07-30 DOI: 10.1002/pd.6636

Fernando Ferrer-Marquez, Jose L Peiro, Gabriele Tonni, Rodrigo Ruano

{"title":"Fetoscopic Release of Amniotic Bands Based on the Evidence-A Systematic Review.","authors":"Fernando Ferrer-Marquez, Jose L Peiro, Gabriele Tonni, Rodrigo Ruano","doi":"10.1002/pd.6636","DOIUrl":"https://doi.org/10.1002/pd.6636","url":null,"abstract":"The purpose of this review is to provide an overview of the perinatal outcomes of fetuses who underwent fetal surgery for the management of Amniotic Band Syndrome (ABS). A systematic review of studies reporting on the perinatal outcome of fetuses undergoing fetoscopic release of amniotic bands according to the (PRISMA) guidelines was performed. The MEDLINE, Embase, Scopus, and Cochrane Library databases were systematically searched. In total, 17 studies reporting 37 cases of ABS that underwent amniotic band release by fetoscopy were included. The median gestational age at which fetal surgery was performed was 22 weeks (range 18-29 weeks). PPROM occurred in 51.3%, while fetal survival reached 89.2%. The success of fetal surgery was 75.7% in preserving and maintaining the functionality of the affected limb. Fetoscopic release of amniotic bands can preserve the affected limb and its function in cases of ABS and prevent fetal death in cases of ABS involving the umbilical cord. Further studies are needed to determine the optimal criteria for selecting patients who can benefit from fetal surgery, considering that it is an intervention that is not free of perinatal complications.","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":null,"pages":null},"PeriodicalIF":2.7,"publicationDate":"2024-07-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141856249","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

Asian Screening Array and Next‐Generation Sequencing Based Panels Applied to Preimplantation Genetic Testing for Monogenic Disorders Preclinical Workup in 294 Families: A Retrospective Analysis 基于亚洲筛查阵列和下一代测序的面板应用于 294 个家庭的单基因遗传病胚胎植入前检测的临床前工作：回顾性分析

IF 3 2区医学

Prenatal Diagnosis Pub Date : 2024-07-27 DOI: 10.1002/pd.6639

Jun Ren, Cuiting Peng, Han Chen, Fan Zhou, Yuezhi Keqie, Yutong Li, Hong Yang, Haixia Zhang, Ze Du, Ting Hu, Xuemei Zhang, Shan Luo, Wei Fan, Yan Wang, He Wang, Xinlian Chen, Shanling Liu

{"title":"Asian Screening Array and Next‐Generation Sequencing Based Panels Applied to Preimplantation Genetic Testing for Monogenic Disorders Preclinical Workup in 294 Families: A Retrospective Analysis","authors":"Jun Ren, Cuiting Peng, Han Chen, Fan Zhou, Yuezhi Keqie, Yutong Li, Hong Yang, Haixia Zhang, Ze Du, Ting Hu, Xuemei Zhang, Shan Luo, Wei Fan, Yan Wang, He Wang, Xinlian Chen, Shanling Liu","doi":"10.1002/pd.6639","DOIUrl":"https://doi.org/10.1002/pd.6639","url":null,"abstract":"ObjectiveCurrently, the most commonly used methods for linkage analysis of pre‐implantation genetic testing for monogenic disorders (PGT‐M) are next generation sequencing (NGS) and SNP array. We aim to investigate whether the application efficacy of Asian screening array (ASA) in PGT‐M preclinical workup for the Chinese population is superior to NGS based single nucleotide polymorphism (SNP) panels.MethodsWe conducted a retrospective analysis by reviewing 294 couples from a single center over the past 4 years and compared the detection results between NGS‐based SNP panels and ASA. Using the numbers of informative SNPs upstream and downstream flanking of variants, we assessed the detection efficiency of both methods in monogenic diseases, chromosomal microdeletion syndrome and males with de novo variants, among other scenarios.ResultsResults indicate that ASA offers a greater number of informative SNPs compared with NGS‐based SNP panels. Additionally, data analysis for ASA is generally more straightforward and may require less computational resources. While ASA can address most PGT‐M challenges, we have also identified certain genes in previous tests that are not suitable for PGT‐M using ASA.ConclusionThe application of ASA in PGT‐M preclinical workup for Chinese populations has good practical value as it can perform linkage analysis for most genetic variants. However, for certain variants, NGS or other testing methods, such as mutated allele revealed by sequencing with aneuploidy and linkage analysis (MARSALA), may still be necessary for completion.","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":null,"pages":null},"PeriodicalIF":3.0,"publicationDate":"2024-07-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141779397","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

Accuracy of fetal fraction measurements in a single-nucleotide polymorphism-based noninvasive prenatal test. 基于单核苷酸多态性的无创产前检测中胎儿分数测量的准确性。

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2024-07-11 DOI: 10.1002/pd.6634

Peter Benn, Jingwen Zhang, Daniel Lyons, Wenbo Xu, Samantha Leonard, Zachary Demko

{"title":"Accuracy of fetal fraction measurements in a single-nucleotide polymorphism-based noninvasive prenatal test.","authors":"Peter Benn, Jingwen Zhang, Daniel Lyons, Wenbo Xu, Samantha Leonard, Zachary Demko","doi":"10.1002/pd.6634","DOIUrl":"https://doi.org/10.1002/pd.6634","url":null,"abstract":"Background: Noninvasive prenatal testing (NIPT) for fetal aneuploidy relies on the analysis of fetoplacental cell-free DNA (cfDNA) found in maternal plasma. A minimum cfDNA fetal fraction (FF) is required for reliable test performance, but some methods may have suboptimal accuracy for FF measurement. This study investigated the accuracy of a single-nucleotide polymorphism- (SNP-) based NIPT method to assess FF.Methods: FF measurements using SNP-based NIPT in consecutive samples from singleton male pregnancies were compared with FF measured using a \"gold standard\" Y-chromosome method.Results: In a cohort of 106,846 samples, the SNP-based FF method showed a standard deviation (SD) of 0.42%. Compared to the Y chromosome FF method, a correlation coefficient, r, of 0.995, and bias of 0.17% were observed. The SD was not substantially different across specific FF ranges or for samples with high-risk NIPT results.Conclusions: The SNP-based NIPT method estimates FF with good accuracy, with a SD three to eight times better than other NIPT methods (0.42% vs. 1.3%-3.4%). FF is an important quality control parameter and should be routinely reported as part of NIPT.","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":null,"pages":null},"PeriodicalIF":2.7,"publicationDate":"2024-07-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141591189","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

Considerations for specialized maternal-fetal care in the Somali-American community. 索马里裔美国人社区中的专业母胎护理考虑因素。

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2024-07-11 DOI: 10.1002/pd.6625

Stephanie A Eyerly-Webb, Shukri Jumale, Ian Wolfe, Munira Maalimisaq, Jamila Abdulkadir, Elizabeth Nisius, Emily F Barthel, Nicholas Juckel, Eric Dion, Jill Palmer, Clifton O Brock, Saul Snowise

{"title":"Considerations for specialized maternal-fetal care in the Somali-American community.","authors":"Stephanie A Eyerly-Webb, Shukri Jumale, Ian Wolfe, Munira Maalimisaq, Jamila Abdulkadir, Elizabeth Nisius, Emily F Barthel, Nicholas Juckel, Eric Dion, Jill Palmer, Clifton O Brock, Saul Snowise","doi":"10.1002/pd.6625","DOIUrl":"https://doi.org/10.1002/pd.6625","url":null,"abstract":"Objective: This study describes the perceptions, personal and community experiences, and barriers to care of Somali-American families regarding specialized maternal-fetal care from their viewpoint.Study design: We conducted a semi-structured focus group study of Somali-American women (March 2023). We used qualitative analysis techniques to identify and report thematic findings.Results: Fifty Somali-American women were interviewed in focus groups. Five themes were identified: 1) adherence to religious belief (namely Islamic) was paramount, including devotions of predestination (e.g. divine will) and permissibility of fetal intervention, 2) participants valued consensus among clinicians and were guided by prior experiences, 3) confidence in the medical team was important, and included the need to communicate effectively with clinicians and concerns regarding the accuracy of diagnosis, 4) decisional factors prioritized saving the life of the baby, and 5) treatment considerations included reluctance to intervene before birth.Conclusions: For the Somali-American participants, their faith identity was central when considering their medical needs, including a hesitance to treat a baby before birth due to Islamic belief in divine will. In addition, these community members highlighted the importance of trustworthy interpretation, cultural competence, clinician consensus, prior pregnancy experiences as well as experiences of other community members as having an impact on their trust in their medical care and diagnosis.","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":null,"pages":null},"PeriodicalIF":2.7,"publicationDate":"2024-07-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141591190","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