Cast aside

2021 ◽  
pp. 191-196
Author(s):  
Michael Obladen

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.

1995 ◽  
Vol 59 (3) ◽  
pp. 253-269 ◽  
Author(s):  
G. E. DAVIES ◽  
C. M. HOWARD ◽  
M. J. FARRER ◽  
M. M. COLEMAN ◽  
L. B. BENNETT ◽  
...  

2021 ◽  
Vol 5 (2) ◽  
Author(s):  
Madbouhi K ◽  
◽  
Cherkaoui O ◽  

We report the case of an 18-year-old patient who consults for a loss of visual acuity in the right eye for 1 year. On clinical examination, visual acuity is 20/100. Eye tone is 12 mmhg. Examination of the anterior segment shows the existence of a cataract made up of whitish opacities corresponding to a congenital cerulean cataract (Figure 1). The treatment consisted of a cataract cure by phacoemulsification with good progress. Cerulean cataract is a rare congenital form of bluish tint, made up of whitish opacities in concentric layers with a radial arrangement at their center. Visual acuity is fairly good in childhood but may deteriorate later. In the literature, the incidence of cataracts in Down’s children ranges from 5% to 50%. In previous studies of congenital or infantile cataract, 3-5 % of cases were associated with Down’s syndrome [1].


1997 ◽  
Vol 98 (2) ◽  
pp. 109-112 ◽  
Author(s):  
Shinji Kounami ◽  
Noriyuki Aoyagi ◽  
Hiroshi Tsuno ◽  
Hiroyuki Suzuki ◽  
Naomi Kitano ◽  
...  

PEDIATRICS ◽  
1978 ◽  
Vol 62 (1) ◽  
pp. 52-53
Author(s):  
Richard H. Heller ◽  
Lee S. Palmer

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.


1987 ◽  
Vol 50 (1) ◽  
pp. 110-111 ◽  
Author(s):  
J R Ara ◽  
M Tamparillas ◽  
M Montori ◽  
J L Capablo ◽  
A Oliveros

1994 ◽  
Vol 1 (4) ◽  
pp. 233-237 ◽  
Author(s):  
Joan K Morris ◽  
David E Mutton ◽  
Roy Ide ◽  
Eva Alberman ◽  
Martin Bobrow

The national register of chromosomal anomalies that lead to Down's syndrome has enabled the monitoring of change in prenatal diagnosis for this condition, and the factors which affect the change. The proportion of cases of cytogenetically diagnosed Down's syndrome in England and Wales detected prenatally rose to 46% in 1991–2 from 31% in 1988–9, a 1·5-fold increase (95% confidence interval 1·3 to 1·7). The increase was confined to mothers under 40 years and was due to the introduction of screening by maternal serum analysis and ultrasound. Over a quarter of affected pregnancies in women aged 25–29 were detected prenatally in 1991–2 compared with less than 10% in 1988–9. Analysis of the data showed regional differences in prenatal diagnosis rates, and in the length of time elapsing between the diagnostic test and termination of an affected pregnancy. An inexplicable finding was that this period varied with the sex of the fetus, being on average a day longer for females than for males.


The Lancet ◽  
1967 ◽  
Vol 289 (7504) ◽  
pp. 1389 ◽  
Author(s):  
M. Fraccaro ◽  
J. Lindsten ◽  
L. Tiepolo

1994 ◽  
Vol 31 (5) ◽  
pp. 418-419 ◽  
Author(s):  
I M Thomas ◽  
R Sayee ◽  
L Shavanthi ◽  
H Sridevi

1966 ◽  
Vol 69 (5) ◽  
pp. 952-953 ◽  
Author(s):  
Spencer O. Raab ◽  
W.J. Mellman ◽  
F.A. Oski ◽  
D. Baker

Sign in / Sign up

Export Citation Format

Share Document