Results 101 to 110 of about 5,960 (128)

High-level mosaic trisomy 21 at amniocentesis associated with positive NIPT for trisomy 21 in a pregnancy with postnatal decrease of the trisomy 21 cell line and a favorable fetal outcome

Taiwanese Journal of Obstetrics & Gynecology
Chih-Ping Chen
doaj   +1 more source

Tissue-Specific Trisomy 10 Mosaicism Confirmed via Skin Fibroblast Analysis. [PDF]

Congenit Anom (Kyoto)
Kimura K, Shimada S, Fukunaga H, Nikai K, Shoji H.   +4 more
europepmc   +1 more source

Solitary cutaneous mastocytoma in an infant with Down syndrome. [PDF]

JAAD Case Rep
Altaweel F, Mosbeh A, Alenezi H, Albazali A.   +3 more
europepmc   +1 more source

Diverging guidelines and consensus statements on preimplantation genetic testing for aneuploidy: indications and strategies reviewed. [PDF]

Reprod Biol Endocrinol
Sichenze L, Fiore A, Casalechi M, Somigliana E, Viganò P, Italian Society of Human Reproduction (SIRU).   +5 more
europepmc   +1 more source

Molecular genetic and pregnancy outcomes of fetuses with increased Nuchal Translucency. [PDF]

PLoS One
Cao L, Dong W, Huang X, Wu Q, Yang J, Lu J, Lin P, Chen X, Zheng X, Zeng X, Fu X.   +10 more
europepmc   +1 more source

A rare <i>de novo</i> prenatal case of Down syndrome due to der(21;21)(q10;q10). [PDF]

Arch Clin Cases
Manea-Sabau ID, Curici A, Lucuta L, Ciurea T, Riza M, Suciu-Lazar V, Anton R, Ceausu I.   +7 more
europepmc   +1 more source

In the era of copy number variation sequencing: changes in the target population for prenatal diagnosis and what is the optimal prenatal diagnostic strategy? [PDF]

Front Med (Lausanne)
Yang S, Li R, Xin S, He Y, Teng S, Gao Y, Fu X.   +6 more
europepmc   +1 more source

Concurrent 12p trisomy and 4q34.2-q35.2 deletion detected by WES-CNV: Case report. [PDF]

Medicine (Baltimore)
Sun X, Lin S, Wang W, Qi Y, Jiang K.
europepmc   +1 more source

Exploring the increasing aneuploidy stress effects on embryo morphokinetic development: non-linear and stage-specific disruption in developmental timing. [PDF]

J Assist Reprod Genet
Roman IC, Coull G, Michielsen A, Nugent A, Carty H, Wale P, Gardner DK, Zăhan M.   +7 more
europepmc   +1 more source

Prenatal Diagnosis of Sex Chromosome Aneuploidies: A Retrospective Study Using QF-PCR, SNP-Based Chromosomal Microarray Analysis, and NIPT. [PDF]

Genes (Basel)
Iordanescu II, Catana A, Barabas Cuzmici Z, Chelu P, Basangiu BF, Severin E, Militaru MS.   +6 more
europepmc   +1 more source