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    Prenatal Diagnosis

    Prenatal Diagnosis

    JournalISSN 0197-3851eISSN 1097-0223中科院 医学 2区

    年发文量

    研究主题

    论文(9302)

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    1Long‐Read Sequencing Resolves a Complex Acrocentric Chromosome Rearrangement and Enables Successful Preimplantation Genetic Testing
    Xiao Zhang,Yanhong Lin,Mingyan Huang,Qiuxiang Huang,Zhihong Wang, Jian Zeng

    Summary What is already known about this topic? What does this study add?

    2026
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    2Factors Associated with the Absence of Fetal Autopsy: Perception of Healthcare Professionals from a French Cross‐Sectional Survey
    Camille Reyl, Sophie Martin‐Berenguer, Fanny Sauveste,Mélie Sarreau

    ABSTRACT Objective Despite recent recommendations highlighting the importance of fetal autopsy for genetic counseling and recurrence prevention, its uptake has declined. This study aimed to identify factors associated with absence of fetal autopsy from the perception of healthcare professionals (HP). Methods National cross‐sectional online survey among French HPs involved in the management of fetal loss was conducted. An anonymous questionnaire explored demographic characteristics, perceived medical, emotional, organizational and educational barriers to fetal autopsy, as well as potential strategies to improve uptake. Data were analyzed descriptively. Results A total of 125 HP completed the survey. Opinions about estimated rate of fetal autopsy refusal in stillbirth cases ranged from 30% to 40% across institutions. Refusal rates varied according to the clinical context or reaching over 75% in terminations of pregnancy with known genetic diagnosis. Identified barriers were multifactorial, including emotional distress related to grief, religious beliefs, fetal bodily integrity. Organizational issues constraints also played a significant role. Additionally, many respondents reported that insufficient training influenced the absence of fetal autopsy. Conclusion Fetal autopsy refusal is driven by emotional, cultural, informational, and organizational factors according to practitioners' perceptions. The development of less invasive alternatives and improved training in communication and bereavement care may enhance acceptance and support for bereaved couples.

    2026
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    3Response to Letter to the Editor "clinical Utility of Nuchal Translucency Measurement in First-Trimester Ultrasound Screening in a Setting with First-Tier NIPT for Aneuploidy Screening".
    E. E. R. Lust, K. Bronsgeest, M. Haak, M. Bekker
    2026
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    4Long‐Read Sequencing Resolves Phase in Prenatal Congenital Chloride Diarrhea Resulting from Inherited and De Novo SLC26A3 Variants
    Himanshu Goel,Sheridan O'Donnell, Georgina Armstrong, Michael Buckley, Francesca Hart,Ying Zhu,Tony Roscioli, Javad Jamshidi

    Key Points What's already known about this topic? What does this study add?

    2026
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    5Fetal Intracranial Hemorrhage: What to Tell Expecting Parents?
    Shiri Shinar,Yada Kunpalin,Elka Miller

    ABSTRACT Fetal intracranial hemorrhage (ICH) is a rare but serious prenatal diagnosis, and counseling affected families remains challenging. In this narrative review, we summarize current evidence on the classification, epidemiology, etiology, diagnosis and neurodevelopmental outcomes of fetal ICH, with a primary focus on intraventricular hemorrhage (IVH) as the most common presentation. The reported incidence of 0.5–1 per 10,000 pregnancies likely underestimates the true burden. Etiologies include fetal‐neonatal alloimmune thrombocytopenia, cerebral small vessel variants, congenital infection, fetal anemia, coagulopathy and twin‐related complications. Nonetheless, a cause is identified in fewer than half of cases even after complete workup, with a genetic etiology found in roughly 30% of fully investigated cases. Detailed neurosonography is the primary diagnostic tool, and fetal MRI is an important adjunct for defining hemorrhage extent, parenchymal injury and posterior fossa involvement. Outcomes vary with hemorrhage grade, location and laterality. Low‐grade IVH generally carries a favorable prognosis, whereas periventricular hemorrhagic infarction carries substantially higher rates of cerebral palsy, shunting and cognitive impairment, particularly when extensive and bilateral. However, prognostic data derive largely from small neonatal cohorts graded with a system not designed for the fetus, which limits individualized counseling. We propose a practical, fetal‐specific framework built on systematic evaluation, an interdisciplinary team approach and transparent communication about prognostic uncertainty. [Correction added on 26 October 2026, after first online publication: The abstract has been replaced with a revised version.]

    2026
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    高被引作者

    作者引用发文
    Kypros Nicolaides9090125
    Kevin Spencer5948114
    Lyn Chitty4183124
    Howard Cuckle329883
    Glenn E Palomaki281357
    Jan Deprest2601122
    N J Wald244149
    Yves Ville229073
    Peter A. Benn213743
    Wolfgang Holzgreve213629

    高产作者

    作者引用发文
    Kypros Nicolaides9090125
    Lyn Chitty4183124
    Jan Deprest2601122
    Kevin Spencer5948114
    Wayseen Wang137890
    Howard Cuckle329883
    Yves Ville229073
    D-Z Li57173
    Françoise Muller196767
    C-P Chen115664

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