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Diagnostic testing after positive results on cell free DNA screening: CVS or Amnio?
Mardy AH, Norton ME. Mardy AH, et al. Prenat Diagn. 2021 Sep;41(10):1249-1254. doi: 10.1002/pd.6021. Epub 2021 Aug 25. Prenat Diagn. 2021. PMID: 34386984 Review.
METHODS: We sought to review the literature for each of these features for each chromosome and provide recommendations on chorionic villus sampling (CVS) versus amniocentesis after an abnormal cfDNA result. RESULTS: For chromosomes with high rates of CPM (trisomy 13, mo …
METHODS: We sought to review the literature for each of these features for each chromosome and provide recommendations on chorionic villus s …
Non-invasive prenatal screening versus prenatal diagnosis by array comparative genomic hybridization: a comparative retrospective study.
Sotiriadis A, Papoulidis I, Siomou E, Papageorgiou E, Eleftheriades M, Papadopoulos V, Alexiou M, Manolakos E, Athanasiadis A. Sotiriadis A, et al. Prenat Diagn. 2017 Jun;37(6):583-592. doi: 10.1002/pd.5051. Epub 2017 May 23. Prenat Diagn. 2017. PMID: 28406537
METHODS: This is a comparative study using data from 2779 fetuses, which underwent invasive prenatal diagnosis, and the samples were analyzed using aCGH. The simulated NIPS assay would test for trisomies 21, 18, 13, monosomy X, 47, XXX, 47, XYY, and 47, XXY. Indicat …
METHODS: This is a comparative study using data from 2779 fetuses, which underwent invasive prenatal diagnosis, and the samples were analyze …
Prenatal diagnosis of a case of partial monosomy/monosomy 13 mosaicism: 46,XX,r(13)(p11q33)/45,XX,-13 suspected by nuchal fold translucency increasing.
Kataoka A, Hirakawa S, Iwamoto M, Sakumura Y, Yoshinaga R, Ohba T. Kataoka A, et al. Kurume Med J. 2011;58(4):127-30. doi: 10.2739/kurumemedj.58.127. Kurume Med J. 2011. PMID: 23047142 Free article.
Large numbers of patients with deletions of the long arm of chromosome 13 have been described. However, only a few instances have been reported of monosomy 13/r(13) mosaicism. ...An amniocentesis (AC) was performed, and the karyotype was 46,XX,r(13 …
Large numbers of patients with deletions of the long arm of chromosome 13 have been described. However, only a few instances have bee …
Interphase fluorescence in situ hybridization in untreated AL amyloidosis has an independent prognostic impact by abnormality type and treatment category.
Muchtar E, Dispenzieri A, Kumar SK, Ketterling RP, Dingli D, Lacy MQ, Buadi FK, Hayman SR, Kapoor P, Leung N, Chakraborty R, Gonsalves W, Warsame R, Kourelis TV, Russell S, Lust JA, Lin Y, Go RS, Zeldenrust S, Kyle RA, Rajkumar SV, Gertz MA. Muchtar E, et al. Leukemia. 2017 Jul;31(7):1562-1569. doi: 10.1038/leu.2016.369. Epub 2016 Dec 1. Leukemia. 2017. PMID: 27904139
The most common abnormality was t(11;14) (49% of patients) followed by monosomy 13/del(13q) (36%) and trisomies (26%). A lower rate of very good partial response (VGPR) or better was observed in patients with t(11;14) treated with bortezomib-based (52% vs 77%; P=0.0 …
The most common abnormality was t(11;14) (49% of patients) followed by monosomy 13/del(13q) (36%) and trisomies (26%). A lower …
Monosomy 13 in metaphase spreads is a predictor of poor long-term outcome after bortezomib plus dexamethasone treatment for relapsed/refractory multiple myeloma.
Kiyota M, Kobayashi T, Fuchida S, Yamamoto-Sugitani M, Ohshiro M, Shimura Y, Mizutani S, Nagoshi H, Sasaki N, Nakayama R, Chinen Y, Sakamoto N, Uchiyama H, Matsumoto Y, Horiike S, Shimazaki C, Kuroda J, Taniwaki M. Kiyota M, et al. Int J Hematol. 2012 May;95(5):516-26. doi: 10.1007/s12185-012-1035-8. Epub 2012 Mar 17. Int J Hematol. 2012. PMID: 22426624
Fluorescence in situ hybridization (FISH) analysis identified del(13q) in 25 patients, t(4;14) in 14, t(14;16) in 4, 1q21 abnormality in 12 and del(17p) in 2, while G-banding also detected chromosome 13 monosomy (-13) in metaphase spreads from 7 patients. Eig …
Fluorescence in situ hybridization (FISH) analysis identified del(13q) in 25 patients, t(4;14) in 14, t(14;16) in 4, 1q21 abnormality in 12 …