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Rapid aneuploidy diagnosis of partial trisomy 7q (7q34→qter) and partial monosomy 10q (10q26.12→qter) by array comparative genomic hybridization using uncultured amniocytes [PDF]

Taiwanese Journal of Obstetrics and Gynecology, 2012
[[abstract]]"Objective To present rapid aneuploidy diagnosis (RAD) of partial trisomy 7q (7q34→qter) and partial monosomy 10q (10q26.12→qter) by array comparative genomic hybridization (aCGH) using uncultured amniocytes.
Pei-Chen Wu, Fuu-Jen Tsai
exaly   +3 more sources

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Molecular genotyping of fetal platelet antigens with uncultured amniocytes

American Journal of Obstetrics and Gynecology, 1995
Amino acid substitutions in platelet membrane glycoproteins result in alloantigens implicated in neonatal alloimmune thrombocytopenia. We report the use of the reverse dot blot technique to genotype the five major fetal platelet alloantigens from amniotic fluid cells.We evaluated a patient with Bakb platelet antibodies who had a previous pregnancy ...
A N, Khouzami, T S, Kickler, P F, Bray, N A, Callan, A C, Sciscione, J B, Shumway, K J, Blakemore   +6 more
openaire   +2 more sources

Determination of fetal RhD status from uncultured amniocytes

Obstetrics & Gynecology, 1996
To determine the accuracy of DNA analysis for fetal RhD status using polymerase chain reaction (PCR) on uncultured amniocytes.Three hundred forty-seven amniotic fluid (AF) samples obtained for a variety of clinical indications were tested for fetal RhD status using PCR and primers specific for the genes coding for D and Cc/Ee.
G A, Dildy, G M, Jackson, K, Ward
openaire   +2 more sources

Evaluation of Lysosomal Enzymes in Uncultured and Cultured Chorionic Villi and Amniocytes

Journal of Inherited Metabolic Disease, 1988
Chorionic villi obtained between the 8th and 12th weeks of gestation can be utilized for prenatal diagnosis of fetal sex (Gosden et al., 1982), chromosomal abnormalities (Simoni et al., 1983), enzyme defects (Poenaru et al., 1984) and DNA analysis (Old et al, 1982).
G, Bartalini, M A, Margollicci, P, Balestri, A, Fois   +3 more
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A Simple Method for Prenatal Diagnosis of Trisomy 21 on Uncultured Amniocytes

European Journal of Human Genetics, 1993
Prenatal diagnosis of trisomy 21 would be easier if fluorescence in situ hybridization (FISH) could be applied to interphase nuclei. Therefore, we prepared a chromosome-21-specific probe by in vitro enzymatic amplification of inter-Alu sequences from YAC clones previously localized to this chromosome.
S P, Romana, G, Tachdjian, L, Druart, D, Cohen, R, Berger, D, Chérif   +5 more
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Role of FISH on Uncultured Amniocytes for the Diagnosis of Aneuploidies in the Presence of Fetal Anomalies

Fetal Diagnosis and Therapy, 2004
<i>Objective:</i> To assess the accuracy of fluorescent in situ hybridization (FISH) on amniocytes in fetuses affected by structural malformations suggestive of chromosomal anomalies. <i>Methods:</i> FISH of uncultured amniotic fluid cells and conventional cytogenetic analysis were performed on 48 pregnancies with ...
LOCATELLI, ANNA, Mariani, S, CIRIELLO, ELENA, DALPRA', LEDA, Villa, N, Sala, E, VERGANI, PATRIZIA   +6 more
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Rapid prenatal diagnosis using uncultured amniocytes and oligonucleotide array CGH

Prenatal Diagnosis, 2008
AbstractObjectiveOligonucleotide‐based array comparative genomic hybridization (array CGH) is an established method for detecting chromosomal abnormalities. Here, we explored the feasibility of using DNA extracted from uncultured amniocytes in amniotic fluid for array CGH on an oligonucleotide array platform.MethodsFifteen fetuses from 14 ongoing ...
Weimin, Bi, Amy M, Breman, Susan F, Venable, Patricia A, Eng, Trilochan, Sahoo, Xin-Yan, Lu, Ankita, Patel, Arthur L, Beaudet, Sau Wai, Cheung, Lisa D, White   +9 more
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Analysis of uncultured amniocytes by comparative genomic hybridization: a prospective prenatal study

Prenatal Diagnosis, 2000
Comparative genomic hybridization (CGH) is a new molecular cytogenetic technique which can detect and map whole and partial aneuploidies throughout a genomic specimen DNA without culturing specimen cells. Thus, CGH may be used as a comprehensive and rapid screening test in prenatal unbalanced chromosomal abnormalities detection.
J M, Lapierre, V, Cacheux, D, Luton, N, Collot, J F, Oury, A, Aurias, G, Tachdjian   +6 more
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Detection of trisomy 21 by quantitative fluorescent–polymerase chain reaction in uncultured amniocytes

Prenatal Diagnosis, 2003
AbstractPrenatal diagnosis of fetal trisomy 21 is usually performed by cytogenetic analysis. This requires lengthy laboratory procedures, high costs and is unsuitable for large‐scale screening of pregnant women. Today, trisomy 21 can be rapidly diagnosed within 24 h by molecular analysis of uncultured fetal cells using the semi‐quantification of ...
Jérôme, Solassol, Haíssam, Rahil, Vincent, Sapin, Didier, Lemery, Bernard, Dastugue, Odile, Boespflug-Tanguy, Isabelle, Creveaux   +6 more
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Defining the role of fluorescence in situ hybridization on uncultured amniocytes for prenatal diagnosis of aneuploidies

American Journal of Obstetrics and Gynecology, 1997
This study examines the role of fluorescence in situ hybridization on uncultured amniocytes for prenatal diagnosis in a population at high risk for aneuploidies.All patients undergoing amniocentesis for fetal structural abnormality on ultrasonographic examination (performed from 13 to 39 weeks), abnormal maternal serum aneuploidy screening results, or ...
M E, D'Alton, F D, Malone, D, Chelmow, B E, Ward, D W, Bianchi   +4 more
openaire   +2 more sources