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JOURNAL ARTICLE
Glenn E Palomaki, Philip Wyatt, Ross Rowsey, Phillip Michael Cacheris, Nathalie Lepage, Marvin R Natowicz, Thomas Long, Ann M Moyer
OBJECTIVE: Determine current analytical methods and number of cell-free (cf) DNA prenatal screening tests performed for common trisomies. METHODS: The College of American Pathologists 2022-B Noninvasive Prenatal Testing exercise was distributed in December 2022 to 93 participants in 22 countries. Supplemental questions included the number of tests performed in a recent month and the proportion of samples originating outside the United States (US). RESULTS: Eighty-three participants from three continents returned results; 74 (89%) were suitable for the analyses...
April 15, 2024: Prenatal Diagnosis
#2
Esha Kohli, Anupama Sawal, Gaurav Kohli
Cystic hygromas detected prenatally usually have a poor prognosis; hence, a correct and early diagnosis is essential. A prenatal ultrasound may detect a cystic hygroma as early as 10 weeks of gestation. Knowledge of the imaging findings and prognostic factors is necessary for effective perinatal counseling. Nuchal cystic hygromas (NCHs) in fetuses present a rare and challenging medical situation for prenatal care providers. This case report aims to describe a particular case of NCH detected through routine prenatal ultrasound, emphasizing the diagnostic demanding situations, management decisions, and final results...
March 2024: Curēus
#3
JOURNAL ARTICLE
María Gabriela Palacios-Verdú, Alberto Rodríguez-Melcón, Ignacio Rodríguez, Annalisa Racca, Bernat Serra, Gerard Albaiges, Mónica Parriego, Pilar Prats
RESEARCH QUESTION: How does first-trimester aneuploidy screening perform in pregnancies achieved through IVF with preimplantation genetic testing for aneuploidy (PGT-A) in a medical setting? DESIGN: This retrospective cohort study was undertaken in a single tertiary care centre between January 2013 and June 2022. In total, 20,237 women had prenatal follow-up at the study centre and were included in the study. The women were divided into three groups: singleton pregnancies conceived through the transfer of a PGT-A-screened euploid embryo (n = 510); singleton pregnancies conceived through IVF without PGT-A (n = 3291); and singleton pregnancies conceived naturally (n = 16,436)...
December 4, 2023: Reproductive Biomedicine Online
#4
JOURNAL ARTICLE
Konstantin E Belozerov, Natalia M Solomatina, Eugenia A Isupova, Alla A Kuznetsova, Mikhail M Kostik
BACKGROUND: Lung damage in systemic juvenile arthritis (sJIA) is one of the contemporary topics in pediatric rheumatology. Several previous studies showed the severe course and fatal outcomes in some patients. The information about interstitial lung disease (ILD) in the sJIA is scarce and limited to a total of 100 cases. AIM: To describe the features of sJIA patients with ILD in detail. METHODS: In the present retrospective cohort study, information about 5 patients less than 18-years-old with sJIA and ILD were included...
March 9, 2024: World Journal of Clinical Pediatrics
#5
JOURNAL ARTICLE
Fenglei Ye, Xiayuan Xu, Yi Wang, Lifang Chen, Qunda Shan, Qijing Wang, Fan Jin
BACKGROUND: Chromosomal microarray analysis (CMA) has emerged as a critical instrument in prenatal diagnostic procedures, notably in assessing congenital heart diseases (CHD). Nonetheless, current research focuses solely on CHD, overlooking the necessity for thorough comparative investigations encompassing fetuses with varied structural abnormalities or those without apparent structural anomalies. OBJECTIVE: This study sought to assess the relation of single nucleotide polymorphism-based chromosomal microarray analysis (SNP-based CMA) in identifying the underlying causes of fetal cardiac ultrasound abnormalities...
April 5, 2024: BMC Pregnancy and Childbirth
#6
JOURNAL ARTICLE
Andrey V Marakhonov, Irina Yu Efimova, Anna A Mukhina, Rena A Zinchenko, Natalya V Balinova, Yulia Rodina, Dmitry Pershin, Oxana P Ryzhkova, Anna A Orlova, Viktoriia V Zabnenkova, Tatiana B Cherevatova, Tatiana S Beskorovainaya, Olga A Shchagina, Alexander V Polyakov, Zhanna G Markova, Marina E Minzhenkova, Nadezhda V Shilova, Sergey S Larin, Maryam B Khadzhieva, Ekaterina S Dudina, Ekaterina V Kalinina, Dzhaina A Mudaeva, Djamila H Saydaeva, Svetlana A Matulevich, Elena Yu Belyashova, Grigoriy I Yakubovskiy, Inna S Tebieva, Yulia V Gabisova, Nataliya A Irinina, Liya R Nurgalieva, Elena V Saifullina, Tatiana I Belyaeva, Olga S Romanova, Sergey V Voronin, Anna Shcherbina, Sergey I Kutsev
Newborn screening (NBS) for severe inborn errors of immunity (IEI), affecting T lymphocytes, and implementing measurements of T cell receptor excision circles (TREC) has been shown to be effective in early diagnosis and improved prognosis of patients with these genetic disorders. Few studies conducted on smaller groups of newborns report results of NBS that also include measurement of kappa-deleting recombination excision circles (KREC) for IEI affecting B lymphocytes. A pilot NBS study utilizing TREC/KREC detection was conducted on 202,908 infants born in 8 regions of Russia over a 14-month period...
April 5, 2024: Journal of Clinical Immunology
#7
JOURNAL ARTICLE
Işıl Ayhan, Oya Demirci, Ali Şahap Odacılar, İlker Kemal Yücel, Ali Karaman
To estimate if there is an association between partial AVSD with chromosomal abnormalities, cardiac and extracardiac malformations, and to report the outcomes of prenatally diagnosed AVSD in a large, contemporary cohort. This is a retrospective cohort study of 190 prenatally diagnosed fetal AVSD between 2014 and 2023. Type of AVSD (complete vs partial), additional cardiac findings, extracardiac findings, presence of a heterotaxy, results of prenatal karyotype, and pregnancy outcomes were documented and analyzed...
April 3, 2024: Pediatric Cardiology
#8
JOURNAL ARTICLE
Caroline M Joyce, Geoffrey J Maher, Susan Dineen, Nirosha Suraweera, Tommie V McCarthy, John Coulter, Keelin O'Donoghue, Michael J Seckl, Brendan Fitzgerald
AIMS: A hydatidiform mole (HM) is classified as complete (CHM) or partial (PHM) based on its morphology and genomic composition. Ancillary techniques are often required to confirm a morphologically suspected PHM diagnosis. This study sought to evaluate the clinical accuracy of PHM diagnosis using morphological assessment supported by HER2 dual-colour dual-hapten in situ hybridisation (D-DISH) ploidy determination. METHODS: Over a 2-year period, our unit examined 1265 products of conception (POCs) from which 103 atypical POCs were diagnosed as PHM or non-molar conceptuses with the assistance of HER2 D-DISH ploidy analysis...
March 30, 2024: Journal of Clinical Pathology
#9
JOURNAL ARTICLE
Cliona A Ryan, Deirdre C Purfield, Daragh Matthews, Carla Canedo-Ribeiro, Ainhoa Valldecabres, Donagh P Berry
Aneuploidy is a genetic condition characterized by the loss or gain of one or more chromosomes. Aneuploidy affecting the sex chromosomes can lead to infertility in otherwise externally phenotypically normal cattle. Early identification of cattle with sex chromosomal aneuploidy is important to minimize the costs associated with rearing infertile cattle and futile breeding attempts. As most livestock breeding programs routinely genotype their breeding populations using single nucleotide polymorphism (SNP) arrays, this study aimed to assess the feasibility of integrating an aneuploidy screening tool into the existing pipelines that handle dense SNP genotype data...
March 29, 2024: Journal of Animal Breeding and Genetics
#10
REVIEW
Valentina Trevisan, Anna Meroni, Chiara Leoni, Fabio Sirchia, Davide Politano, Giacomo Fiandrino, Valentina Giorgio, Donato Rigante, Domenico Limongelli, Lucrezia Perri, Elisabetta Sforza, Francesca Leonardi, Germana Viscogliosi, Ilaria Contaldo, Daniela Orteschi, Luca Proietti, Giuseppe Zampino, Roberta Onesimo
BACKGROUND: Among aneuploidies compatible with life, trisomy 22 mosaicism is extremely rare, and only about 25 postnatal and 18 prenatal cases have been described in the literature so far. The condition is mainly characterized by facial and body asymmetry, cardiac heart defects, facial dysmorphisms, growth failure, delayed puberty, and variable degrees of neurodevelopmental delay. PROBLEM: The scattered information regarding the condition and the dearth of data on its natural history and developmental outcomes restrict genetic counseling, particularly in prenatal settings...
March 8, 2024: Genes
#11
JOURNAL ARTICLE
Kartik K Iyer, James A Roberts, Michaela Waak, Simon J Vogrin, Ajay Kevat, Jasneek Chawla, Leena M Haataja, Leena Lauronen, Sampsa Vanhatalo, Nathan J Stevenson
BACKGROUND: In children, objective, quantitative tools that determine functional neurodevelopment are scarce and rarely scalable for clinical use. Direct recordings of cortical activity using routinely acquired electroencephalography (EEG) offer reliable measures of brain function. METHODS: We developed and validated a measure of functional brain age (FBA) using a residual neural network-based interpretation of the paediatric EEG. In this cross-sectional study, we included 1056 children with typical development ranging in age from 1 month to 18 years...
March 26, 2024: EBioMedicine
#12
JOURNAL ARTICLE
Kara Bellai-Dussault, Shelley D Dougan, Deshayne B Fell, Julian Little, Lynn Meng, Nan Okun, Mark C Walker, Christine M Armour, Beth K Potter
IMPORTANCE: Ultrasonographic measurement of fetal nuchal translucency is used in prenatal screening for trisomies 21 and 18 and other conditions. A cutoff of 3.5 mm or greater is commonly used to offer follow-up investigations, such as prenatal cell-free DNA (cfDNA) screening or cytogenetic testing. Recent studies showed a possible association with chromosomal anomalies for levels less than 3.5 mm, but extant evidence has limitations. OBJECTIVE: To evaluate the association between different nuchal translucency measurements and cytogenetic outcomes on a population level...
March 4, 2024: JAMA Network Open
#13
JOURNAL ARTICLE
Issam Saliba, Sarah Alshehri, Isabelle Fournier, Nasser Altamami
OBJECTIVE: This study aimed to evaluate the effectiveness of endolymphatic duct blockage (EDB) on dizziness control in patients with a large vestibular aqueduct (LVA) and to evaluate its effect on hearing. STUDY DESIGN: This is a prospective nonrandomized study. SETTING: Five adults and one child with dizziness and five children with progressive hearing loss were referred to our tertiary centers. METHODS: The dizziness handicap inventory (DHI) and DHI-PC (dizziness handicap inventory-patient caregiver) questionnaires were used before and after surgery...
March 18, 2024: Audiology Research
#14
JOURNAL ARTICLE
Chih-Ping Chen
No abstract text is available yet for this article.
March 2024: Taiwanese Journal of Obstetrics & Gynecology
#15
JOURNAL ARTICLE
Chih-Ping Chen
No abstract text is available yet for this article.
March 2024: Taiwanese Journal of Obstetrics & Gynecology
#16
REVIEW
Chih-Ping Chen
Fetal pleural effusion has been reported to be associated with chromosomal abnormalities, genetic syndromes, obstructive uropathy, lymphatic vessel abnormalities such as Noonan syndrome, RASopathy and congenital lymphatic anomalies, thoracic cavity defects, Rh or ABO incompatibility, non-immune hydrops fetalis, infections, congenital cardiac anomalies, metabolic diseases and hematologic diseases such as α-thalassemia. This review provides a comprehensive view of specific and non-specific chromosome aberrations associated with fetal pleural effusion which is useful for genetic counseling and fetal therapy at prenatal diagnosis of fetal pleural effusion...
March 2024: Taiwanese Journal of Obstetrics & Gynecology
#17
JOURNAL ARTICLE
Amy Fothergill, Rebecca F Liberman, Eirini Nestoridi, Cara T Mai, Lorraine F Yeung, Cathleen Higgins, Mahsa M Yazdy
BACKGROUND: Birth defects affect 1 in 33 infants in the United States and are a leading cause of infant mortality. Birth defects surveillance is crucial for informing public health action. The Massachusetts Birth Defects Monitoring Program (MBDMP) began collecting other pregnancy losses (OPLs) in 2011, including miscarriages (<20 weeks gestation) or elective terminations (any gestational age), in addition to live births and stillbirths (≥20 weeks gestation). We describe programmatic changes for adding OPLs and their impact on prevalence estimates...
March 2024: Birth Defects Research
#18
JOURNAL ARTICLE
Alessio Faralli, Elisa Fucà, Giulia Lazzaro, Deny Menghini, Stefano Vicari, Floriana Costanzo
This perspective review aims to explore the potential neurobiological mechanisms involved in the application of transcranial Direct Current Stimulation (tDCS) for Down syndrome (DS), the leading cause of genetically-based intellectual disability. The neural mechanisms underlying tDCS interventions in genetic disorders, typically characterized by cognitive deficits, are grounded in the concept of brain plasticity. We initially present the neurobiological and functional effects elicited by tDCS applications in enhancing neuroplasticity and in regulating the excitatory/inhibitory balance, both associated with cognitive improvement in the general population...
2024: Frontiers in Cellular Neuroscience
#19
JOURNAL ARTICLE
Hoda Zakaria, Pascale Kleinfinger, Laurence Lohmann, Jean-Marc Costa, Vassilis Tsatsaris, Laurent J Salomon, Jean-Marie Jouannic, Jonathan Rosenblatt, Adèle Demain, Alexandra Benachi, Laïla El Khattabi, Alexandre J Vivanti
OBJECTIVE: In singleton pregnancies, the use of cell-free DNA (cfDNA) analysis as a screening test for common fetal trisomies has spread worldwide though we still lack sufficient data for its use in triplet pregnancies. The objective of this study is to assess the performance of cfDNA testing in detecting fetal aneuploidies in triplet pregnancies as a first-tier test. METHOD: We performed a retrospective cohort study including data from pregnant women with a triplet pregnancy who underwent cfDNA testing between May 1, 2017, and January 15, 2020...
March 6, 2024: Prenatal Diagnosis
#20
JOURNAL ARTICLE
David A Geier, Mark R Geier
DNA alterations in gametes, which may occur either spontaneously or as a result of exposure to genotoxicants, can lead to constitutional chromosomal anomalies in the offspring. Alcohol is an established genotoxicant. The goal of this hypothesis-testing longitudinal cohort study was to evaluate the effect of significant/sustained maternal alcohol exposure on clinically diagnosed constitutional chromosomal anomalies among children diagnosed with fetal alcohol syndrome (FAS). De-identified eligibility and claim healthcare records, prospectively generated from the 1990-2012 Florida Medicaid system within the Independent Healthcare Research Database (IHRD), were analyzed...
2024: Mutation Research. Genetic Toxicology and Environmental Mutagenesis
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