Results 131 to 140 of about 7,985 (170)

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

Low-level mosaic trisomy 6 at amniocentesis associated with a favorable fetal outcome and complete cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes

Taiwanese Journal of Obstetrics and Gynecology
openaire   +3 more sources

How Are SNP-Array, Karyotyping, and FISH Applied in Prenatal Practice? A Focus on Diagnosis of Mosaicism Involving the Sex Chromosomes. [PDF]

Prenat Diagn
Luo X, Niu H, Chen X, Zhou F, Cong X, Li S, Pei Y, Chang L, Liu W, Wei F.   +9 more
europepmc   +1 more source

Recurrent mandibulofacial dysostosis, Guion-Almeida type in consecutive pregnancies due to maternal mosaicism of a novel EFTUD2 variant: a case report and review of the literature. [PDF]

J Med Case Rep
Wang B, Hua C, Liu Q, Cai D.
europepmc   +1 more source

Neonatal cytogenetic validation demonstrates high accuracy of single-nucleotide polymorphism-based non-invasive prenatal testing: a 4466-case single-center study. [PDF]

J Hum Genet
Uchida S, Mizuguchi Y, Sato S, Sueoka K, Tanaka M.   +4 more
europepmc   +1 more source

Mosaic trisomy 20 at amniocentesis with a positive conventional cytogenetic result in cultured amniocytes and a negative chromosomal microarray analysis result in uncultured amniocytes in a pregnancy with a favorable fetal outcome

Taiwanese Journal of Obstetrics and Gynecology
openaire   +3 more sources

Rapid detection of chromosomal aneuploidies in uncultured amniocytes by multiplex ligation-dependent probe amplification (MLPA)

Prenatal Diagnosis, 2005
To test whether multiplex ligation-dependent probe amplification (MLPA) can be used for the detection of aneuploidy of chromosomes 13, 18, 21, X, and Y in uncultured amniocytes.We performed a prospective study based on 527 amniotic fluid samples. Chromosome copy numbers were determined by analysing the relative amount of PCR product of chromosome ...
Hochstenbach, R., Meijer, J., van de Brug, J., Vossebeld-Hoff, I., Jansen, R., van der Luijt, R. B., Sinke, R. J., Page-Christiaens, G. C. M. L., Ploos van Amstel, J.-K., de Pater, J. M.   +9 more
exaly   +6 more sources

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An improved method for the detection of Down's syndrome aneuploidy in uncultured amniocytes

Clinical Genetics, 1996
We report a modified method for the rapid detection of aneuploidies directly on human uncultured amniocytes that simplifies and shortens the entire experimental procedure, yielding signals which allow correct diagnosis of trisomy 21 in 97% of cases.
M, Pierluigi, C, Perfumo, S, Cavani, H, Lehrach, D, Nizetic, F D, Dagna Bricarelli   +5 more
exaly   +3 more sources

Automatic Scanning of Interphase FISH for Prenatal Diagnosis in Uncultured Amniocytes

Genetic Testing and Molecular Biomarkers, 2005
Fluorescence in situ hybridization (FISH) of uncultured amniocytes using chromosome-specific DNA probes offers the opportunity for rapid aneuploidy screening. Between 80 and 95% of all chromosomal disorders expected in the second trimester of pregnancy can be discovered within 24 hr if DNA probes specific for chromosomes 21, 18, 13, X, and Y are used ...
Dorit Lev, Gustavo Malinger
exaly   +3 more sources

A prospective comparative study on fluorescencein situ hybridization (FISH) of uncultured amniocytes and standard karyotype analysis

Prenatal Diagnosis, 1998
Fluorescence in situ hybridization (FISH) on uncultured amniocytes and standard cytogenetic analysis after amniocentesis have been performed for 904 samples. The experience with the FISH method and its clinical relevance is described in a large clinical pilot study. Commercially available chromosome-specific DNA probes for chromosomes 13, 18, 21, X and
B Eiben
exaly   +3 more sources