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The utility of pre-implantation genetic testing (PGT-A) is controversial, with older meta-analyses demonstrating improved pregnancy outcomes, while newer trials have not shown benefit. Therefore, we performed a meta-analysis which aimed to evaluate the benefits of PGT-A using comprehensive chromosome screening (CCS) and its effects on fertilization (IVF) outcomes among randomized controlled trials (RCTs). We conducted a systematic search to identify RCTs comparing women undergoing PGT-A with CSS with women not undergoing PGT-A, from inception to December 2020. Random effects meta-analysis was utilized to calculate average odds ratios (OR) for clinical pregnancy rate (CPR), ongoing pregnancy rate (OPR), and miscarriage rate (MR). The heterogeneity of exposure was assessed using Forest plots and I2 statistics. Publication bias was evaluated using Egger's test. Among 1251 citations, seven RCTs met the inclusion criteria. Biopsies of embryos were carried out at various developmental stages, including polar body, day 3, and day 5-6 of culture. Data was analyzed as all studies and blastocyst only. Meta-analysis failed to show improvement in OPRs using PGT-A in the all ages, <35 years old and ≥35 years old age groups. There was also no significant difference in CPRs in any group. The MR decreased with the use of PGT-A (among all biopsy types and among blastocyst biopsies) in the all-ages group, but not when stratifying according to patient age <35 and ≥35 years old. More data regarding the risks and advantages of PGT-A are needed to make a final decision on the value of this intervention in clinical practice. The exact magnitude of the benefit of PGT-A selection cannot be correctly determined until multiple standardized protocol IVF PGT-A trials are conducted.
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http://dx.doi.org/10.22074/ijfs.2023.1996379.1450 | DOI Listing |
Neuro Endocrinol Lett
September 2025
Department of Radiology, Sir Run Run Shaw Hospital, Zhejiang University School of Medicine, China.
Background: Pheochromocytomas and paragangliomas (PPGLs) are rare catecholamine-secreting neuroendocrine tumors originating from the embryonic neural crest. Approximately 30% of PPGLs are hereditary and are frequently associated with genetic syndromes, including neurofibromatosis type 1 (NF1). Composite PPGLs, which include components of both PPGLs and related tumors such as ganglioneuromas, are extremely rare in NF1 patients.
View Article and Find Full Text PDFNeurol Neuroimmunol Neuroinflamm
November 2025
Department of Neurology, UC Davis Medical Center, Sacramento, CA.
Objectives: Complement factor I (CFI) deficiency is a rare condition that can present with fulminant relapsing CNS autoinflammation. In this report, we highlight the utility of genetic testing in unexplained CNS autoinflammation.
Methods: This case report describes a young adult with partial CFI deficiency, presenting with acute hemorrhagic leukoencephalitis and longitudinally extensive transverse myelitis.
Microbiol Spectr
September 2025
Institute for Medical Laboratory Diagnostics, Helios University Hospital, Witten/Herdecke University, Wuppertal, Germany.
Carbapenem-resistant organisms (CRO) have rapidly spread worldwide in recent years, posing a significant challenge to both human health and healthcare systems. Timely and accurate detection of CRO, especially carbapenemase-producing and non-fermenters, is crucial for clinical prevention and treatment of these infections. In the present study, we subjected more than 114 multidrug-resistant Gram-negative and non-fermenters to two tests for the timely detection of carbapenemases.
View Article and Find Full Text PDFGenet Med
September 2025
Institute for Clinical and Translational Science, University of California, Irvine, CA, USA.
Purpose: Advancements in sequencing technologies have significantly improved clinical genetic testing, yet the diagnostic yield remains around 30-40%. Emerging technologies are now being deployed to address the remaining diagnostic gap.
Methods: We tested whether short-read genome sequencing could increase the diagnostic yield in individuals enrolled into the UCI-GREGoR research study, who had suspected Mendelian conditions and prior inconclusive testing.
Eur J Case Rep Intern Med
August 2025
National Rehab Hospital, Dublin, Ireland.
Unlabelled: This report provides a detailed analysis of a singular case involving cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) in a male patient who suffered a stroke. Our investigation delves into the clinical manifestations, genetic foundations, diagnostic complexities, and prognosis associated with CADASIL. As a notable contributor to stroke occurrence in young patients, CADASIL's impact on morbidity and mortality is influenced by stroke-related complications and cognitive decline.
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