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.

Real possibilities of prenatal diagnosis of translocation form Down’s syndrome

2018 ◽  
Author(s):  
O.L. Galkina, E.V. Vlasenko, N.B. Shmakova, O.V. Sahar
Keyword(s):  
Prenatal Diagnosis ◽  
Pregnant Women ◽  
Trisomy 21 ◽  
Perinatal Outcome ◽  
Chromosomal Abnormalities ◽  
Down's Syndrome ◽  
Down’S Syndrome ◽  
Biochemical Screening ◽  
Ultrasound Evaluation ◽  
Prenatal Examination

Objective: analyses of real possibilities of prenatal diagnosis of translocation form Down’s syndrome. Materials: 243 cases of Down's syndrome were diagnosed within 15 years, translocation variant of trisomy 21 was found in 5 cases (2 %). The article provides the analyses of the results of prenatal examination of the fetuses with the translocation form of Down's syndrome. Results: in all 5 cases abnormal biochemical screening and ultrasound markers of chromosomal abnormalities were recorded. Prenatal karyotyping was carried out in one observation. In 4 cases cytogenetic diagnosis was performed postnatally. The perinatal outcome is known in all the observations. Conclusion: Prenatal diagnosis of the translocation form of Down's syndrome is possible in most cases, provided that the screening time of the examination of pregnant women is met and the indications for an expert ultrasound evaluation of the fetus using the latest technology are broadened

Genetic variation in the COL6A1 region is associated with congenital heart defects in trisomy 21 (Down's syndrome)

1995 ◽  
Vol 59 (3) ◽  
pp. 253-269 ◽  
Author(s):  
G. E. DAVIES ◽  
C. M. HOWARD ◽  
M. J. FARRER ◽  
M. M. COLEMAN ◽  
L. B. BENNETT ◽  
...  
Keyword(s):  
Genetic Variation ◽  
Congenital Heart Defects ◽  
Trisomy 21 ◽  
Congenital Heart ◽  
Heart Defects ◽  
Down's Syndrome ◽  
Down’S Syndrome

Immunochemical quantification of Cu/Zn superoxide dismutase in prenatal diagnosis of Down's syndrome

1990 ◽  
Vol 85 (3) ◽  
pp. 362-366 ◽  
Author(s):  
Tomas Porstmann ◽  
Roselotte Wietschke ◽  
Günther Cobet ◽  
Katja Lorenz ◽  
Roland Grunow ◽  
...  
Keyword(s):  
Superoxide Dismutase ◽  
Prenatal Diagnosis ◽  
Down's Syndrome ◽  
Down’S Syndrome

Down's Syndrome and the Family

1982 ◽  
Vol 6 (1) ◽  
pp. 21-42
Author(s):  
Olwen Rowlands
Keyword(s):  
Down's Syndrome ◽  
Down’S Syndrome ◽  
The Family

Prenatal diagnosis of pectus excavatum and its relation to Down's syndrome

1992 ◽  
Vol 2 (6) ◽  
pp. 446-447 ◽  
Author(s):  
A. Salamanca ◽  
A. Girona ◽  
M. C. Padilla ◽  
R. M. Sabatel ◽  
F. Gonzales-Gomez
Keyword(s):  
Prenatal Diagnosis ◽  
Pectus Excavatum ◽  
Down's Syndrome ◽  
Down’S Syndrome

Cast aside

2021 ◽  
pp. 191-196
Author(s):  
Michael Obladen
Keyword(s):  
Trisomy 21 ◽  
Homo Sapiens ◽  
Down's Syndrome ◽  
Scientific Progress ◽  
Down’S Syndrome ◽  
Chromosomal Anomalies ◽  
Additional Chromosome ◽  
Ethnic Classification ◽  
The Right ◽  
Invasive Techniques

Trisomy 21 originated with Homo sapiens, or even before, as it exists in other primates. However, in antiquity, Down’s syndrome was rare: mothers were younger, and children failed to reach adulthood. For centuries, trisomy 21 and hypothyreosis were confused. Scientific reports originated from asylums for the mentally retarded. In 1866, John Langdon Down at Earlswood published a description of symptoms in his ‘Ethnic classification of idiots’ and coined the term ‘Mongolian’. Jerôme Lejeune identified an additional chromosome 21 causing the disorder. Maternal age rose markedly for various reasons, as did the prevalence of trisomy 21. From 1968, high-risk pregnancies were screened and interrupted because of Down’s syndrome. Non-invasive techniques now enable all pregnancies to be screened to detect chromosomal anomalies early and precisely. The topic is hotly debated and consensus unlikely. Legislation will not halt scientific progress, but it should ensure that in the same society contradictory attitudes can be held and mutually respected: the right to accept a disabled infant and the right not to accept it.

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