To evaluate the utility of ultrasound in identifying fetuses with uncommon chromosomal abnormalities that would be considered not detectable by cell-free fetal deoxyribonucleic acid (cfDNA). We performed a retrospective study of fetuses with chromosomal abnormalities that would be undetectable by cfDNA, who underwent an 11- to 14-week ultrasound from 2006 to 2016. There were 43 pregnancies included. First-trimester ultrasound revealed a fetal abnormality in 19 (44.2%) cases, of which 13 (30.2%) had a thickened nuchal translucency. There were an additional four fetuses with second-trimester sonographic abnormalities. Overall, 23 (53.5%) fetuses were found to have a major anomaly diagnosed by ultrasound. The rate of first-trimester sonographic abnormalities varied widely based on category of chromosomal abnormalities with high rates seen with triploidy (87.5%) and autosomal trisomy (80%) and lower rates seen with structurally abnormal chromosomes (33.3%), trisomy mosaicism (27.3%), other forms of mosaicism (11.1%), and deletions or duplications (25.0%), < 0.001. The majority of fetuses with uncommon chromosomal abnormalities in our cohort had major sonographic anomalies. The use of first-trimester ultrasound with nuchal translucency measurement may offer utility in identifying fetuses with risk of aneuploidy that would not be detectable with cfDNA.
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http://dx.doi.org/10.1055/s-0038-1624564 | DOI Listing |
Theor Appl Genet
January 2025
School of Life Sciences, Guizhou Normal University, Guiyang, 550025, China.
A complete set of monosomic alien addition lines of Radish-Brassica oleracea exhibiting extensive variations was generated and well characterized for their chromosome behaviors and phenotypic characteristics. Monosomic alien addition lines (MAALs) are developed through interspecific hybridization, where an alien chromosome from a relative species is introduced into the genome of the recipient plant, serving as valuable genetic resources. In this study, an allotetraploid Raphanobrassica (RRCC, 2n = 36) was created from the interspecific hybridization between radish (Raphanus sativus, RR, 2n = 18) and Brassica oleracea (CC, 2n = 18).
View Article and Find Full Text PDFInt J Mol Sci
January 2025
Centro de Investigación Biomédica en Red de Cáncer, CIBERONC CB16/12/00284, Instituto de Salud Carlos III, 28029 Madrid, Spain.
Recent studies have demonstrated the association between constitutional ring chromosome 21 (r(21)c) and the development of B-cell acute lymphoblastic leukemia (B-ALL) with intrachromosomal amplification of chromosome 21 (iAMP21). iAMP21 acts as a driver which is often accompanied by secondary alterations that influence disease progression. Here, we report an atypical case of iAMP21 B-ALL with a unique molecular profile in the context of r(21)c.
View Article and Find Full Text PDFInt J Mol Sci
December 2024
Department of Cancer Biology, Maria Sklodowska-Curie National Research Institute of Oncology, Roentgena 5, 02-781 Warszawa, Poland.
High-grade B-cell lymphoma with 11q aberration (HGBCL-11q) is a rare germi-nal centre lymphoma characterised by a typical gain/loss pattern on chromo-some 11q but without MYC translocation. It shares some features with Burkitt lymphoma (BL), HGBCLs and germinal centre-derived diffuse large B-cell lym-phoma, not otherwise specified (GCB-DLBCL-NOS). Since microRNA expression in HGBCL-11q remains unknown, we aimed to identify and compare the mi-croRNA expression profiles in HGBCL-11q, BL and in GCB-DLBCL-NOS.
View Article and Find Full Text PDFInt J Mol Sci
December 2024
D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, 199034 St. Petersburg, Russia.
In the present study, we aimed to investigate intratumoral karyotype diversity as well as the estrogen/progesterone effect on the cytogenetic profile of uterine leiomyomas (ULs). A total of 15 UL samples obtained from 15 patients were cultured in the media supplemented with estrogen and/or progesterone and without adding hormones. Conventional cytogenetic analysis of culture samples revealed clonal chromosomal abnormalities in 11 out of 15 ULs.
View Article and Find Full Text PDFMolecules
December 2024
The Stephan Angeloff Institute of Microbiology, Bulgarian Academy of Sciences, 26 Acad. G. Bonchev Str., 1113 Sofia, Bulgaria.
The highly valued oil of Mill. (Rosaceae), widely used in high perfumery, cosmetics, and other spheres of human life, obliges us to know and study the safety profile of the product obtained from the water-steam distillation of fresh rose petals. The genotoxicity of the essential oil (EsO) has not been thoroughly studied despite its wide range of applications.
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