scholarly journals EP11.20: Prenatal diagnosis of Trisomy 21 and transient abnormal myelopoiesis

2018 ◽  
Vol 52 ◽  
pp. 249-249
Author(s):  
W. Almeida ◽  
C. Mehrotra ◽  
J.E. Dickinson
Keyword(s):  
Prenatal Diagnosis ◽  
Trisomy 21 ◽  
Transient Abnormal Myelopoiesis

scholarly journals 44 Single-Nucleotide Polymorphisms Expressed by Placental RNA: Assessment for Use in Noninvasive Prenatal Diagnosis of Trisomy 21

2007 ◽  
Vol 53 (12) ◽  
pp. 2223-2224 ◽  
Author(s):  
Attie TJI Go ◽  
Allerdien Visser ◽  
Monique AM Mulders ◽  
Marinus A Blankenstein ◽  
John MG van Vugt ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Single Nucleotide Polymorphisms ◽  
Trisomy 21 ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Noninvasive Prenatal Diagnosis

scholarly journals Investigating the Link Between Trisomy 21 and Acquired Mutations in the GATA1 Gene

The Physician ◽  
2019 ◽  
Vol 6 (1) ◽  
pp. c9
Author(s):  
Triya Chakravorty ◽  
Irene Roberts
Keyword(s):  
Down Syndrome ◽  
Acute Myeloid Leukaemia ◽  
Myeloid Leukaemia ◽  
Trisomy 21 ◽  
Children With Down Syndrome ◽  
Transient Abnormal Myelopoiesis ◽  
Increased Risk ◽  
Leukaemic Cells ◽  
Acute Myeloid

Children with Down syndrome (DS) due to trisomy 21 (T21) are at an increased risk of developing the neonatal preleukaemic disorder transient abnormal myelopoiesis (TAM), which may transform into childhood acute myeloid leukaemia (ML-DS). Leukaemic cells in TAM and ML-DS have acquired mutations in the GATA1 gene. Although it is clear that acquired mutations in GATA1 are necessary for the development of TAM and ML-DS, questions remain concerning the mechanisms of disease.

OP03.10: Prenatal diagnosis vs 1st trimester screening of Trisomy 21 among pregnant women aged 35 or more

2014 ◽  
Vol 44 (S1) ◽  
pp. 70-70
Author(s):  
T. Ghi ◽  
T. Arcangeli ◽  
F. Ravennati ◽  
G. Salsi ◽  
E. Montaguti ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Pregnant Women ◽  
Trisomy 21 ◽  
Trimester Screening

Trisomy 21 in One of Twin Fetuses

PEDIATRICS ◽  
1978 ◽  
Vol 62 (1) ◽  
pp. 52-53
Author(s):  
Richard H. Heller ◽  
Lee S. Palmer
Keyword(s):  
Prenatal Diagnosis ◽  
Trisomy 21 ◽  
Down's Syndrome ◽  
Down’S Syndrome ◽  
Healthy Infant ◽  
The Other ◽  
Technical Problems ◽  
The Family ◽  
Successful Execution

Both the detection of twins and the successful execution of a double amniocentesis pose significant technical problems in prenatal diagnosis. A case is reported in which one of twin fetuses had trisomy 21 and the other was chromosomally normal. Following counseling, the family chose to continue the pregnancy. At term, the mother was delivered of a healthy infant and a severely macerated fetus with stigmata suggestive of Down's syndrome.

scholarly journals Expression Signature as a Biomarker for Prenatal Diagnosis of Trisomy 21

PLoS ONE ◽  
2013 ◽  
Vol 8 (9) ◽  
pp. e74184 ◽  
Author(s):  
Marija Volk ◽  
Aleš Maver ◽  
Luca Lovrečić ◽  
Peter Juvan ◽  
Borut Peterlin
Keyword(s):  
Prenatal Diagnosis ◽  
Trisomy 21 ◽  
Expression Signature

A Simple Method for Prenatal Diagnosis of Trisomy 21 on Uncultured Amniocytes

1993 ◽  
Vol 1 (3) ◽  
pp. 245-251 ◽  
Author(s):  
Serge P. Romana ◽  
Gérard Tachdjian ◽  
Luc Druart ◽  
Daniel Cohen ◽  
Roland Berger ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Trisomy 21 ◽  
Simple Method
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