Prenatal diagnosis of trisomy 21 without the Down syndrome phenotype

2006 ◽  
Vol 26 (12) ◽  
pp. 1168-1171 ◽  
Author(s):  
M. Aguinaga ◽  
G. Razo ◽  
J. Castro ◽  
D. G. Mayén-Molina
Keyword(s):  
Down Syndrome ◽  
Prenatal Diagnosis ◽  
Trisomy 21 ◽  
Down Syndrome Phenotype

Atypical Down syndrome phenotype with severe developmental delay, hypertonia, and seizures in a child with translocation trisomy 21

2002 ◽  
Vol 44 (01) ◽  
pp. 64 ◽  
Author(s):  
Kim M Keppler-Noreuil ◽  
Judy L Welch ◽  
Heather J Major ◽  
Q Qiau ◽  
Diane K Jordan ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Developmental Delay ◽  
Trisomy 21 ◽  
Down Syndrome Phenotype

Prenatal diagnosis of lung malformations and upper respiratory tract in fetuses with trisomy 21

2019 ◽  
Author(s):  
U.A. Strupeneva, E.S. Nekrasova, E.V. Lisina
Keyword(s):  
Early Childhood ◽  
Down Syndrome ◽  
Prenatal Diagnosis ◽  
Respiratory Tract ◽  
Respiratory System ◽  
Trisomy 21 ◽  
Upper Respiratory Tract ◽  
Children With Down Syndrome ◽  
Laryngeal Atresia ◽  
Upper Respiratory

The features of the development of the respiratory system in children with Down syndrome and related with that diseases of lungs and upper respiratory tract in children in early childhood are presented. Two cases of prenatal diagnosis of cystic adenomatous malformation type Ш and laryngeal atresia in fetuses with trisomy 21 are described.

Clinical, cytogenetic, and molecular evaluation of a patient with partial trisomy 21 (21q11-q22) lacking the classical Down syndrome phenotype

2005 ◽  
Vol 37 (S7) ◽  
pp. 110-114 ◽  
Author(s):  
Charles A. Williams ◽  
Jaime L. Frias ◽  
Mary Kay McCormick ◽  
Stylianos E. Antonarakis ◽  
Eduardo S. Cantu
Keyword(s):  
Down Syndrome ◽  
Trisomy 21 ◽  
Partial Trisomy ◽  
Molecular Evaluation ◽  
Down Syndrome Phenotype

A patient with partial trisomy 21 and 7q deletion expresses mild Down syndrome phenotype

Gene ◽  
2014 ◽  
Vol 536 (2) ◽  
pp. 441-443 ◽  
Author(s):  
I. Papoulidis ◽  
E. Papageorgiou ◽  
E. Siomou ◽  
E. Oikonomidou ◽  
L. Thomaidis ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Trisomy 21 ◽  
Partial Trisomy ◽  
7Q Deletion ◽  
Down Syndrome Phenotype

Prenatal decision-making in the second and third trimester in trisomy 21-affected pregnancies

2017 ◽  
Vol 45 (2) ◽  
Author(s):  
Alexander Weichert ◽  
Thorsten Braun ◽  
Christine Deutinger ◽  
Wolfgang Henrich ◽  
Karim D. Kalache ◽  
...  
Keyword(s):  
Decision Making ◽  
Down Syndrome ◽  
Prenatal Diagnosis ◽  
Pregnancy Outcomes ◽  
Trisomy 21 ◽  
Chromosome Abnormality ◽  
Advanced Stage ◽  
Single Factor ◽  
Third Trimester ◽  
Ultrasound Findings

AbstractDown syndrome (DS) is the most common chromosome abnormality among live-born infants and the most frequent genetic cause of intellectual disability. The majority of pregnancies affected by DS are terminated. The decision concerning whether or not to continue a pregnancy following the prenatal diagnosis of DS is complex and amongst others, motivated by attitudes towards termination, socioeconomic factors, and ultrasound findings. In Germany, termination of pregnancy (TOP) is a legal option, even during the later stages of gestation. The aim of the present study was to evaluate the pregnancy outcomes as well as possible factors that influence the decisions made by women with trisomy 21-affected pregnancies. In our study 112 pregnancies affected by trisomy 21 were included. Our data confirm that most patients are more likely to terminate a trisomy 21-affected pregnancy [76 (67.9%) vs. 36 (32.1%) continued pregnancies]. Beyond that we found that women who continued their pregnancy tended to be at an advanced stage in their pregnancy at the time of karyotyping. With regards to factors from their medical history as well as sonographic findings there was no identifiable single factor that could distinguish between women that opted to continue or terminate their pregnancy.

DESIGN AN “IN-HOUSE” SOFTWARE FOR CALCULTING THE RISK OF TRISOMY 21 AND OPEN NEURAL TUBE DEFECTS IN THE GESTATIONAL AGE 15 – 22 WEEKS

2012 ◽  
pp. 25-36
Author(s):  
Phan Tuong Quynh Le ◽  
Viet Nhan Nguyen
Keyword(s):  
Down Syndrome ◽  
Prenatal Diagnosis ◽  
Neural Tube ◽  
Neural Tube Defects ◽  
Gestational Age ◽  
Trisomy 21 ◽  
Prenatal Screening ◽  
Trisomy 18 ◽  
Edwards Syndrome ◽  
Microsoft Office

Objectives: Design an “in-house” software for calculating the risk of fetus has Down syndrome, Edwards syndrome and open neural tube defects in prenatal screening at the gestational age 15-22. Methods: Based on the Excel program of Microsoft Office and the articles with the Excel of Microsoft Office and the related articles have been published. Results: In cases have the risk of trisomy 21 with the range from 1/251 to 1/350: the risk tends to be lower than Prisca (83.7%). In cases have the high risks of trisomy 21 in screening but the results of prenatal diagnosis are not trisomy: the risks of “in house” software are lower than the risks of Prisca (73%) with 29% of cases has the risks less than 1/250. In cases of trisomy 18 with the risks are lower than 1/150: there are statistical significant differences between the two softwares (P <0.05). In screening open neural tube defects, the cases have the threshold higher than 1.50 MoM AFP: The results in the “in house” software tend to higher than Prisca (94%). The cases have the threshold lower than 1.50 MoM AFP: Where the disability screening of neural tube openings with thresholds lower than 1.5 MoM AFP: there are no statistical significant differences between the two softwares (P >0.05). Conclusion: The “in house” software has all the necessary functions for calculating the risk of Down syndrome, Edwards syndrome and open neural tube at the gestational age 15-22.

scholarly journals Early Prenatal Diagnosis of an Extremely Rare Association of Down Syndrome and Transposition of the Great Vessels

2019 ◽  
Vol 70 (7) ◽  
pp. 2574-2578
Author(s):  
Cristina Crenguta Albu ◽  
Dinu-Florin Albu ◽  
Stefan-Dimitrie Albu ◽  
Anca Patrascu ◽  
Ana-Roxana Musat ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Down Syndrome ◽  
Heart Disease ◽  
Prenatal Diagnosis ◽  
Trisomy 21 ◽  
Congenital Heart ◽  
Heart Defects ◽  
Live Births ◽  
Cardiac Malformations ◽  
Great Vessels

Every year, an estimated 7.9 million infants (6% of worldwide births) are born with serious�birth defects [1].�Congenital cardiovascular defects make up one of the largest groups of severe congenital malformations [2].The incidence of congenital heart defects in different studies varies from about 4/1,000 to 50/1,000 live births [3].� Congenital heart disease is frequently described in patients with Down syndrome and is the main cause of death in this population during the first two years of life [4].�Trisomy 21 with cardiovascular malformations have a maternal age-adjusted regional prevalence of 4.33/10,000 for the white population and 3.70/10,000 for the nonwhite population [5].�Prenatal diagnosis of�congenital�heart disease is important for proper perinatal and neonatal management, as congenital cardiac malformations occurs in approximately eight of 1000 live births [6]. We present an extremely rare case of early prenatal diagnosis and management of a fetus with trisomy 21 associated with the transposition of the great vessels, one of the most mysterious congenital cardiac malformations.

scholarly journals Atypical Down Syndrome phenotype with translocation Trisomy 21

1999 ◽  
Vol 1 (2) ◽  
pp. 64-64
Author(s):  
J Welch ◽  
K Kermler-Noreuil ◽  
H Major ◽  
Q Qiau ◽  
C Epstein ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Trisomy 21 ◽  
Down Syndrome Phenotype

‘The Stuff of Slow Constitution’: Reading Down Syndrome for Race, Disability, and the Timing that Makes Them So

Somatechnics ◽  
2016 ◽  
Vol 6 (2) ◽  
pp. 235-248 ◽  
Author(s):  
Mel Y. Chen
Keyword(s):  
Down Syndrome ◽  
Trisomy 21 ◽  
Historical Perspective ◽  
Early History ◽  
Present Moment ◽  
History Of ◽  
Living Being

In this paper I would like to bring into historical perspective the interrelation of several notions such as race and disability, which at the present moment seem to risk, especially in the fixing language of diversity, being institutionalised as orthogonal in nature to one another rather than co-constitutive. I bring these notions into historical clarity primarily through the early history of what is today known as Down Syndrome or Trisomy 21, but in 1866 was given the name ‘mongoloid idiocy’ by English physician John Langdon Down. In order to examine the complexity of these notions, I explore the idea of ‘slow’ populations in development, the idea of a material(ist) constitution of a living being, the ‘fit’ or aptness of environmental biochemistries broadly construed, and, finally, the germinal interarticulation of race and disability – an ensemble that continues to commutatively enflesh each of these notions in their turn.

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