journal
https://read.qxmd.com/read/38342960/the-role-of-confined-placental-mosaicism-in-fetal-growth-restriction-a-retrospective-cohort-study
#21
JOURNAL ARTICLE
Geerke M Eggenhuizen, Attie T J I Go, Zoë Sauter, Mariëtte J V Hoffer, Monique C Haak, Geert Geeven, Karin E M Diderich, Marieke Joosten, Myrthe van den Born, Malgorzata I Srebniak, Diane Van Opstal
OBJECTIVE: To evaluate which cytogenetic characteristics of confined placental mosaicism (CPM) detected in the first trimester chorionic villi and/or placentas in terms of chromosome aberration, cell lineage involved and trisomy origin will lead to fetal growth restriction and low birthweight. METHODS: Cohort study using routinely collected perinatal data and cytogenetic data of non-invasive prenatal testing, the first trimester chorionic villi sampling and postnatal placentas...
February 11, 2024: Prenatal Diagnosis
https://read.qxmd.com/read/38342957/early-prenatal-diagnosis-of-causative-homozygous-variants-in-ascc1-in-a-fetus-with-cystic-hygroma-and-additional-homozygous-variants-of-unknown-significance-associated-with-a-neurological-phenotype-not-visible-in-early-gestation-dual-diagnosis-or-not
#22
Maud Favier, Julian Delanne, Guillaume Gorincour, Laurence Faivre, Caroline Racine, Christophe Philippe, Yannis Duffourd, Antonio Vitobello, Thierry Rousseau, Olivia Martz, Georges Tarris, Camélia Oualiken, Christel Thauvin-Robinet, Frédéric Tran Mau-Them
A consanguineous couple was referred at 10 weeks of gestation (WG) for prenatal genetic investigations due to isolated cystic hygroma. Prenatal trio exome sequencing identified causative homozygous truncating variants in ASCC1 previously implicated in spinal muscular atrophy with congenital bone fractures. Prenatal manifestations in ASCC1 can usually include hydramnios, fetal hypo-/akinesia, arthrogryposis, contractures and limb deformities, hydrops fetalis and cystic hygroma. An additional truncating variant was identified in CSPP1 associated with Joubert syndrome...
February 11, 2024: Prenatal Diagnosis
https://read.qxmd.com/read/38342853/novel-premature-termination-codon-in-the-foxp3-gene-as-the-cause-of-familial-hydrops-fetalis-in-males
#23
Brighton Goodhue, MaryLou Smith, Kelly Bennett, Matthew Grace
A 19-year-old, G1P0, pregnant person was referred at 20w2d gestation for evaluation due to non-immune hydrops fetalis (NIHF), which was confirmed at the time of evaluation. Amniocentesis was performed at 20 w4d, and FISH, karyotype, chromosomal microarray, and exome sequencing (ES) were ordered. Trio ES identified a novel hemizygous c.142 C > T (p.Arg48*; maternally inherited) variant in the FOXP3 gene, resulting in a premature termination codon and establishing the diagnosis of immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome...
February 11, 2024: Prenatal Diagnosis
https://read.qxmd.com/read/38294151/knowledge-gaps-and-confidence-in-counseling-about-aneuploidy-screening-and-testing-a-survey-of-prenatal-care-clinicians
#24
JOURNAL ARTICLE
M M Thorsen, K Khanuja, R C Mahoney, H B Al-Kouatly, M L Russo
OBJECTIVES: Comprehensive counseling on prenatal genetic screening and diagnostic testing is challenging for clinicians. We sought to identify baseline clinician knowledge of prenatal genetic screening and diagnostic testing and needs to promote counseling aligned with ACOG recommendations. METHODS: We performed an anonymous, cross-sectional survey of clinicians at two unaffiliated, tertiary academic institutions to assess the knowledge of, confidence in, and time spent counseling on prenatal genetic screening and diagnostic testing...
January 31, 2024: Prenatal Diagnosis
https://read.qxmd.com/read/38285371/the-expanded-spectrum-of-human-disease-associated-with-greb1l-likely-includes-complex-congenital-heart-disease
#25
JOURNAL ARTICLE
Emily Zhao, Miles Bomback, Atlas Khan, Sarath Krishna Murthy, David Solowiejczyk, Neeta L Vora, Kelly L Gilmore, Jessica L Giordano, Ronald J Wapner, Simone Sanna-Cherchi, Alex Lyford, Angie C Jelin, Ali G Gharavi, Thomas Hays
OBJECTIVE: GREB1L has been linked prenatally to Potter's sequence, as well as less severe anomalies of the kidney, uterus, inner ear, and heart. The full phenotypic spectrum is unknown. The purpose of this study was to characterize known and novel pre- and postnatal phenotypes associated with GREB1L. METHODS: We solicited cases from the Fetal Sequencing Consortium, screened a population-based genomic database, and conducted a comprehensive literature search to identify disease cases associated with GREB1L...
January 29, 2024: Prenatal Diagnosis
https://read.qxmd.com/read/38285322/twenty-years-of-progress-in-the-diagnosis-and-management-of-foetal-urinary-tract-conditions
#26
EDITORIAL
Karin Blakemore, Lyn S Chitty
No abstract text is available yet for this article.
January 29, 2024: Prenatal Diagnosis
https://read.qxmd.com/read/38279846/validation-of-low-pass-genome-sequencing-for-prenatal-diagnosis
#27
JOURNAL ARTICLE
Chloe Mighton, Abdul Noor, Nicholas Watkins, Vanessa Di Gioacchino, Jordan Lerner-Ellis, Andrew Wong, Elvira Mukharryamova, Nina Anggala, David Chitayat, Elena Greenfeld
OBJECTIVE: Chromosomal microarray (CMA), while considered the gold standard for detecting copy number variants (CNVs) in prenatal diagnostics, has its limitations, including the necessity to replace aging microarray equipment, low throughput, a static design, and an inefficient multi-day workflow. This study evaluates the feasibility of low-pass genome sequencing (LP-GS) as a potential replacement for CMA in prenatal diagnostics. METHODS: We comprehensively compared LP-GS at 10x and 5x average depths with CMA in a prenatal laboratory...
January 27, 2024: Prenatal Diagnosis
https://read.qxmd.com/read/38279830/fetal-hyperechoic-kidneys-diagnostic-considerations-and-genetic-testing-strategies
#28
REVIEW
Christine B Hertenstein, Kristen A Miller, Judy A Estroff, Karin J Blakemore
Isolated bilateral hyperechoic kidneys (HEK) on prenatal ultrasound presents diagnostic, prognostic, and counseling challenges. Prognosis ranges from normal outcome to lethal postnatally. Presence/absence of extra-renal malformations, gestational age at presentation, amniotic fluid volume, and renal size may distinguish underlying etiologies and thereby prognosis, as prognosis is highly dependent upon underlying etiology. An underlying genetic diagnosis, clearly impactful, is determined in only 55%-60% of cases...
January 27, 2024: Prenatal Diagnosis
https://read.qxmd.com/read/38243614/predictors-of-fetal-death-neonatal-survival-and-neurological-outcomes-in-severe-twin-twin-transfusion-syndrome-treated-by-laser-ablation-of-placental-vessels
#29
JOURNAL ARTICLE
Cleisson Fábio Andrioli Peralta, Karina Jorge Rodrigues da Costa, Ana Clara Peneluppi Horak, Samara Pinheiro do Carmo Gomes, Elton Sousa Santos, Letícia Galvão Barbante, Renato Hideo Nakagawa Santos
OBJECTIVES: To identify predictors of outcomes in severe twin oligo-polyhydramnios sequence (TOPS) with or without twin anemia-polycythemia sequence (TAPS) and/or selective fetal growth restriction (SFGR) treated by laser ablation of placental vessels (LAPV). METHODS: Analysis of cases treated from 2011 to 2022. Variables evaluated Prenatal predictors: stages of TOPS, presence of TAPS and/or SFGR; pre-LAPV fetal ultrasound parameters; peri-LAPV variables. Perinatal predictors: GA at birth; birthweight; Apgar scores; transfontanellar ultrasonography (TFUS)...
January 19, 2024: Prenatal Diagnosis
https://read.qxmd.com/read/38242839/improving-prenatal-diagnosis-through-standards-and-aggregation
#30
REVIEW
Michael H Duyzend, Pilar Cacheiro, Julius O B Jacobsen, Jessica Giordano, Harrison Brand, Ronald J Wapner, Michael E Talkowski, Peter N Robinson, Damian Smedley
Advances in sequencing and imaging technologies enable enhanced assessment in the prenatal space, with a goal to diagnose and predict the natural history of disease, to direct targeted therapies, and to implement clinical management, including transfer of care, election of supportive care, and selection of surgical interventions. The current lack of standardization and aggregation stymies variant interpretation and gene discovery, which hinders the provision of prenatal precision medicine, leaving clinicians and patients without an accurate diagnosis...
January 19, 2024: Prenatal Diagnosis
https://read.qxmd.com/read/38221678/women-s-attitudes-towards-disclosure-of-genetic-information-in-pregnancy-with-varying-levels-of-penetrance
#31
JOURNAL ARTICLE
Vitalia Libman, Michal Macarov, Yechiel Friedlander, Drorith Hochner-Celnikier, Yishai Sompolinsky, Uri P Dior, Michael Osovsky, Lina Basel-Salmon, Arnon Wiznitzer, Yehuda Neumark, Vardiella Meiner, Ayala Frumkin, Hagit Hochner, Shiri Shkedi-Rafid
BACKGROUND: Chromosomal-microarray-analysis (CMA) may reveal susceptibility-loci (SL) of varied penetrance for autism-spectrum-disorder (ASD) and other neurodevelopmental conditions. Attitudes of women/parents to disclosure of SL during pregnancy are understudied. METHODS: A multiple-choice questionnaire was distributed to postpartum women. Data were collected on women's interest to receive prenatal genetic information with various levels of penetrance. RESULTS: Women's (n = 941) disclosure choices were dependent on the magnitude of risk: approximately 70% supported disclosure of either full or 40% penetrance, 53% supported disclosure at a 20% risk threshold, and 40% supported disclosure at 10% or less...
January 14, 2024: Prenatal Diagnosis
https://read.qxmd.com/read/38204192/unbalanced-x-y-translocations-carrying-sry-in-prenatal-settings-clinical-molecular-and-cytogenetic-analysis-of-three-cases
#32
JOURNAL ARTICLE
Xijing Liu, Zhu Zhang, Xuan Zhang, Jiamin Wang, Jieni Jiang, Lingping Li, He Wang, Shanling Liu, Ting Hu
BACKGROUND: Generally, the translocation of SRY onto one of the X chromosomes leads to 46, XX testicular disorders of sex development, a relatively rare condition characterized by the presence of testicular tissue with a 46, XX karyotype. Three prenatal cases of unbalanced X; Y translocation carrying SRY were identified in this study. METHODS: Structural variants were confirmed using single nucleotide polymorphism array and chromosomal karyotyping. X chromosome inactivation (XCI) was also analyzed...
January 10, 2024: Prenatal Diagnosis
https://read.qxmd.com/read/38204186/ethical-reflections-on-organizing-the-first-human-trial-of-artificial-womb-technologies
#33
JOURNAL ARTICLE
Alice Cavolo, Daniel Pizzolato
OBJECTIVE: To investigate how to protect participants in the artificial womb technology (AWT) human trials. METHOD: We compared randomized controlled trials and single arm trials to understand which trial design best balances the interests of science and participants. We also compared AWT trials with comparable settings to understand how to protect participants. RESULTS: Randomized trials might fail in reaching a sizeable sample, which could pointlessly expose participants to risks...
January 10, 2024: Prenatal Diagnosis
https://read.qxmd.com/read/38193623/response-to-the-correspondence-on-performance-of-single-gene-noninvasive-prenatal-testing-for-autosomal-recessive-conditions-in-a-general-population-setting
#34
LETTER
Julia Wynn, Shannon Rego O'Rourke, Jennifer Hoskovec, Sriram C Perni
No abstract text is available yet for this article.
January 9, 2024: Prenatal Diagnosis
https://read.qxmd.com/read/38185824/exteriorization-of-the-uterus-reduces-fetoscopic-cannula-induced-stress-and-strain-a-finite-element-model-analysis
#35
JOURNAL ARTICLE
Mirza A Ahmad, Simen Vergote, Emmanuel Vander Poorten, Roland Devlieger, Paolo De Coppi, Edoardo Mazza, Jan Deprest
OBJECTIVE: To estimate stresses and strains in the uterine wall and fetal membranes with single/multi-port fetoscopy, simulating either a percutaneous access or via exteriorized uterus. STUDY DESIGN: Finite element models based on anatomical dimensions, material properties and boundary conditions were created to simulate stresses, strains and displacements on the uterine wall and fetal membranes during simulated fetal surgery either via exteriorized uterus or percutaneous approach, and with one or three cannulas...
January 7, 2024: Prenatal Diagnosis
https://read.qxmd.com/read/38177082/mammalian-target-of-rapamycin-inhibitors-a-new-possible-approach-for-in-utero-medication-therapy
#36
REVIEW
Shohra Qaderi, Ali Javinani, Yair J Blumenfeld, Eyal Krispin, Ramesha Papanna, Frank A Chervenak, Alireza A Shamshirsaz
The mammalian/mechanistic target of rapamycin (mTOR) is a protein kinase that plays a crucial role in regulating cellular growth, metabolism, and survival. Although there is no absolute contraindication for the use of mTOR inhibitors during pregnancy, the specific fetal effects remain unknown. Available data from the past 2 decades have examined the use of mTOR inhibitors during pregnancy in patients with solid organ transplantation, showing no clear link to fetal complications or structural abnormalities...
January 4, 2024: Prenatal Diagnosis
https://read.qxmd.com/read/38175174/telegenetics-to-provide-comprehensive-prenatal-diagnosis
#37
REVIEW
April D Adams, Robert Ball, Sandra Darilek
Telehealth is an effective way to increase access to genetic services and can address several challenges, including geographic barriers, a shortage of interpreter services, and workforce issues, especially for prenatal diagnosis. The addition of prenatal telegenetics to current workflows shows promise in enhancing the delivery of genetic counseling and testing in prenatal care, providing accessibility, accuracy, patient satisfaction, and cost-effectiveness. Further research is needed to explore long-term patient outcomes and the evolving role of telehealth for prenatal diagnosis...
January 4, 2024: Prenatal Diagnosis
https://read.qxmd.com/read/38168862/preterm-membranes-are-mechanically-more-resistant-than-term-membranes
#38
JOURNAL ARTICLE
Simen Vergote, Serjosha Robmann, Johannes Van Der Merwe, Jute Richter, Jan Deprest, Eduardo Mazza
OBJECTIVE: To compare the biomechanical properties of fetal preterm membranes (20 + 0 weeks to 30 + 0 weeks) to those of the term (37 + 0 to 41 + 0 weeks). METHOD: Amnion and chorion were manually separated and samples were cut to the required geometry. Rectangular samples with (mode 1) and without (uniaxial) a notch, were tested for tearing energy, critical elongation, and tangent stiffness. Suture retention and inter-suture distance testing investigated the effect of suture placement...
January 2, 2024: Prenatal Diagnosis
https://read.qxmd.com/read/38167810/pregnant-women-s-informational-needs-prior-to-decisions-about-prenatal-diagnosis-for-chromosomal-anomalies-a-q%C3%A2-methodological-study
#39
JOURNAL ARTICLE
Ellen Ternby, Ove Axelsson, Susanne Georgsson, Charlotta Ingvoldstad Malmgren
OBJECTIVE: To study pregnant women's subjective viewpoints on what is important when receiving information prior to decision-making regarding prenatal testing for chromosomal anomalies. METHOD: Data were collected using Q methodology. During January 2020-October 2021, 45 pregnant women in Sweden completed a 50-item Q sort. Statements regarding what is important when receiving information about prenatal screening and diagnosis were prioritized through ranking in a fixed sorting grid on an 11-point scale, from "most important" to "least important...
January 2, 2024: Prenatal Diagnosis
https://read.qxmd.com/read/38165124/prenatal-diagnosis-of-pontocerebellar-hypoplasia-with-postnatal-follow-up
#40
JOURNAL ARTICLE
Alienor Jaillard, Stéphanie Valence, Saskia Vande Perre, Ferdinand Dhombres, Delphine Héron, Thierry Billette de Villemeur, Boris Keren, Alexandra Afenjar, Leila Qebibo, Madeleine Harion, Geneviève Quenum-Miraillet, Diana Rodriguez, Jean-Marie Jouannic, Lydie Burglen, Catherine Garel
OBJECTIVE: To describe the MR features enabling prenatal diagnosis of pontocerebellar hypoplasia (PCH). METHOD: This was a retrospective single monocentre study. The inclusion criteria were decreased cerebellar biometry on dedicated neurosonography and available fetal Magnetic Resonance Imaging (MRI) with PCH diagnosis later confirmed either genetically or clinically on post-natal MRI or by autopsy. The exclusion criteria were non-available MRI and sonographic features suggestive of a known genetic or other pathologic diagnosis...
January 2, 2024: Prenatal Diagnosis
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