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ChatGPT: a pioneering approach to complex prenatal differential diagnosis.
Publication Type: Academic Journal
Source(s): American journal of obstetrics & gynecology MFM [Am J Obstet Gynecol MFM] 2023 Aug; Vol. 5 (8), pp. 101029. Date of Electronic Publication: 2023 May 29.
Abstract: This commentary examines how ChatGPT can assist healthcare teams in the prenatal diagnosis of rare and complex cases by creating a differential diagnoses based on deidentified clinical findings, while also acknowledging its limitations. (Copyright © 20...
The influence of the introduction of a national prenatal screening program on late termination of pregnancy, a retrospective cohort study.
Publication Type: Academic Journal
Source(s): Prenatal diagnosis [Prenat Diagn] 2023 Jul; Vol. 43 (8), pp. 1079-1087. Date of Electronic Publication: 2023 Jun 18.
Abstract: Objective: To assess the influence of a national prenatal screening program on category 1 (lethal anomalies) late terminations of pregnancy (LTOP).Methods: In this population-based retrospective cohort study, we included all category 1 LTOPs from 2004 ...
Trends in Delayed Diagnosis of Critical Congenital Heart Defects in an Era of Enhanced Screening, 2004-2018.
Publication Type: Academic Journal
Source(s): The Journal of pediatrics [J Pediatr] 2023 Jun; Vol. 257, pp. 113366. Date of Electronic Publication: 2023 Feb 28.
Abstract: Objective: To describe trends in delayed diagnosis of critical congenital heart defects (CCHDs) with prenatal and postnatal screening advances.Study Design: We evaluated a retrospective cohort of live births with CCHD delivered between 2004 and 2018 fr...
Knowledge, acceptability and personal attitude toward pre-implantation 1 genetic testing (PGT) and pre-natal diagnosis (PND) for females carrying BRCA pathogenic variant according to fertility preservation experience.
Publication Type: Academic Journal
Source(s): Journal of assisted reproduction and genetics [J Assist Reprod Genet] 2023 Jun; Vol. 40 (6), pp. 1381-1390. Date of Electronic Publication: 2023 May 08.
Abstract: Purpose: Preimplantation genetic testing (PGT-M) and prenatal diagnosis (PND) followed by medical termination of pregnancy when the fetus is affected are two procedures developed to avoid the transmission of a severe hereditary disease which can be pro...
[Couples with risk of a child with a mitochondrial disease: wat are the reproductive options?]
Publication Type: Academic Journal
Source(s): Nederlands tijdschrift voor geneeskunde [Ned Tijdschr Geneeskd] 2023 May 10; Vol. 167. Date of Electronic Publication: 2023 May 10.
Abstract: Mitochondrial diseases are the most common inborn errors of metabolism. These severe multisystem disorders cause serious morbidity and mortality. Generally no treatment is available. This underlines the importance of counseling about the reproductive o...
Potential roles of extracellular vesicles as a noninvasive tool for prenatal genetic diagnosis.
Publication Type: Academic Journal
Source(s): F&S science [F S Sci] 2023 May; Vol. 4 (2S), pp. 36-43. Date of Electronic Publication: 2023 Feb 02.
Abstract: The rate of infertility is increasing owing to genetic and environmental factors. Consequently, assisted reproductive technology has been introduced as an alternative. Bearing in mind the global trend toward the transfer of only one embryo, there is an...
Late diagnosis of congenital diaphragmatic hernia: a case report.
Publication Type: Academic Journal
Source(s): Journal of medical case reports [J Med Case Rep] 2023 Jun 12; Vol. 17 (1), pp. 240. Date of Electronic Publication: 2023 Jun 12.
Abstract: Background: Congenital diaphragmatic hernia beyond the neonatal period is not uncommon. Its diagnosis in infancy and early childhood poses a challenge owing to different clinical presentation ranging from gastrointestinal to respiratory symptoms. These...
Delayed Diagnosis in a Patient With Progressive Proximal Weakness: A Clinical Vignette.
Publication Type: Academic Journal
Source(s): American journal of physical medicine & rehabilitation [Am J Phys Med Rehabil] 2023 Jun 01; Vol. 102 (6), pp. e83-e86. Date of Electronic Publication: 2022 Dec 22.
Abstract: Competing Interests: Financial disclosure statements have been obtained, and no conflicts of interest have been reported by the authors or by any individuals in control of the content of this article.
Delayed Diagnosis of Retronychia: How Ultrasound Can Nail the Diagnosis in Clinically Subtle Patients.
Publication Type: Academic Journal
Source(s): Skinmed [Skinmed] 2023 May 09; Vol. 21 (2), pp. 116-117. Date of Electronic Publication: 2023 May 09 (Print Publication: 2023).
Abstract: A 47-year-old man presented to the dermatologic surgery clinic with a 7-month history of a painful, swollen left great toe after minor trauma. Intermittently, the toe became exquisitely tender such that even weight of a blanket exacerbated pain. The pa...
Clinical utility of reproductive carrier screening for preconception and pregnant couples for multiple genetic conditions: a systematic review and meta-analysis.
Publication Type: Report
Source(s): Expert review of molecular diagnostics [Expert Rev Mol Diagn] 2023 May; Vol. 23 (5), pp. 419-429. Date of Electronic Publication: 2023 Apr 24.
Abstract: Introduction: Many scientific societies have emphasized the importance of evaluating the clinical utility of reproductive carrier screening (RCS). This systematic review aims to assess the clinical utility of RCS and synthesize the outcomes in a meta-a...