Galactose-1-phosphate-uridyl transferase activity in chorionic villi: A first trimester prenatal diagnosis of galactosaemia

1986 ◽  
Vol 9 (S2) ◽  
pp. 284-286 ◽  
Author(s):  
M. O. Rolland ◽  
G. Mandon ◽  
J. P. Farriaux ◽  
C. Dorche
Keyword(s):  
Prenatal Diagnosis ◽  
First Trimester ◽  
Transferase Activity ◽  
Chorionic Villi

First trimester prenatal diagnosis of metachromatic leukodystrophy on chorionic villi by ‘Immunoprecipitation—electrophoresis’

1988 ◽  
Vol 11 (2) ◽  
pp. 123-130 ◽  
Author(s):  
L. Poenaru ◽  
L. Castelnau ◽  
A-M. Besançon ◽  
H. Nicolesco ◽  
S. Akli ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Metachromatic Leukodystrophy ◽  
First Trimester ◽  
Chorionic Villi

First trimester biopsies of chorionic villi for prenatal diagnosis: experience of two laboratories

2008 ◽  
Vol 26 (3) ◽  
pp. 263-264 ◽  
Author(s):  
M. Mikkelsen ◽  
F. Søndergaard ◽  
T. Tønnesen ◽  
L. Marsk ◽  
J. Lindsten
Keyword(s):  
Prenatal Diagnosis ◽  
First Trimester ◽  
Chorionic Villi

scholarly journals TRIPLOID KARYOTYPES IN PRENATAL DIAGNOSIS AT UNIVERSITY CLINICAL CENTER OF REPUBLIC OF SRPSKA

2018 ◽  
Vol 1 (2) ◽  
pp. 23
Author(s):  
Marija Vuković ◽  
Zoran Obradović ◽  
Radmila Malešević ◽  
Željko Karan ◽  
Dženita Kurtćehajić ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Twin Pregnancy ◽  
First Trimester ◽  
Molecular Methods ◽  
Chorionic Villi ◽  
Clinical Center ◽  
Combined Test ◽  
Cytogenetic Analyses ◽  
Banja Luka ◽  
Amniotic Cells

Triploidy is chromosomal abnormality characterized by the presence of three sets of chromosomes instead of the normal two sets, so the triploid fetus has 69 chromosomes. Within the Department for medical genetics at University Clinical Center of Republic of Srpska, from 2009 to 2016, 5853 prenatal karyotipizations were performed from amniotic fluid. Two cases (0,03%) of tryploid karyotipe were detected during this period. In this report we will present the findings of triploid karyotype 69, XXX in prenatal diagnosis. Origin of those triploid karyotipes was determined using molecular methods at Institute of Forensic Medicine of Republic of Srpska, Banja Luka. One of the detected triploid fetuses originated from twin pregnancy, where the pregnancy was spontaneously aborted two weeks after amniocentesis. Using molecular methods, it was determined that one set of chromosomes originated from the mother, and two sets from the father- diandric origin. The other triploid fetus originated from one fetus pregnancy, where the pregnancy was spontaneously aborted two weeks after amniocentesis. The first trimester combined test indicated triploid kariotype with digyny origin. Triploid karyotype was confirmed by prenatal karyotipisation, while molecular analysis confirmed digyny origin of this case of triploidy – two sets of chromosomes originated from mother and one set from father. Since cytogenetic analyses are performed from amniotic cells at 16-18 weeks, in order to reduce waiting period, parents should be informed about karyotypisation and DNA profiling from chorionic villi sample at 11-12 weeks as a faster option to get final results .

Prenatal Diagnosis of Double Trisomy 48,XXX,+18 in the First Trimester

2005 ◽  
Vol 24 (5) ◽  
pp. 717-719 ◽  
Author(s):  
Victor Dezerega ◽  
Cecilia Be ◽  
Amy E. Wong ◽  
Rafael Silva ◽  
Waldo Sepulveda
Keyword(s):  
Prenatal Diagnosis ◽  
First Trimester ◽  
Double Trisomy

Prenatal diagnosis of spina bifida aperta after first-trimester valproate exposure

1992 ◽  
Vol 12 (11) ◽  
pp. 893-897 ◽  
Author(s):  
Juliette G. C. Omtzigt ◽  
Frans J. Los ◽  
Adriana M. Hagenaars ◽  
Patricia A. Stewart ◽  
Eva S. Sachs ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Spina Bifida ◽  
First Trimester ◽  
Spina Bifida Aperta

scholarly journals Downregulation of A1 and A2B adenosine receptors in human trisomy 21 mesenchymal cells from first-trimester chorionic villi

2012 ◽  
Vol 1822 (11) ◽  
pp. 1660-1670 ◽  
Author(s):  
Stefania Gessi ◽  
Stefania Merighi ◽  
Angela Stefanelli ◽  
Prisco Mirandola ◽  
Alessandra Bonfatti ◽  
...  
Keyword(s):  
Adenosine Receptors ◽  
Trisomy 21 ◽  
First Trimester ◽  
Mesenchymal Cells ◽  
Chorionic Villi
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