Antenatal diagnosis of tetrahydrobiopterin deficiency by quantification of pterins in amniotic fluid and enzyme activity in fetal and extrafetal tissue

1994 ◽  
Vol 226 (2) ◽  
pp. 159-169 ◽  
Author(s):  
N. Blau ◽  
L. Kierat ◽  
A. Matasovic ◽  
W. Leimbacher ◽  
C.W. Heizmann ◽  
...  
Keyword(s):  
Enzyme Activity ◽  
Amniotic Fluid ◽  
Antenatal Diagnosis ◽  
Tetrahydrobiopterin Deficiency

scholarly journals Amniotic fluid macrophages and the antenatal diagnosis of anencephaly and spina bifida.

1975 ◽  
Vol 12 (2) ◽  
pp. 135-137 ◽  
Author(s):  
G R Sutherland ◽  
D J Brock ◽  
J B Scrimgeour
Keyword(s):  
Spina Bifida ◽  
Amniotic Fluid ◽  
Antenatal Diagnosis

Antenatal genetic diagnosis in Newcastle: experience of 1200 requests

1981 ◽  
Vol 13 (1) ◽  
pp. 81-86
Author(s):  
A. R. Boon
Keyword(s):  
Amniotic Fluid ◽  
Antenatal Diagnosis ◽  
Genetic Diagnosis ◽  
Consecutive Series ◽  
Advisory Service

SummaryA consecutive series of 1200 specimens of amniotic fluid obtained by amniocentesis from patients requesting antenatal diagnosis coming to a regional genetic advisory service is reviewed. The analysis identifies the conditions that most frequently come for antenatal diagnosis, picks out the conditions showing the highest frequency of affected fetuses on termination, and examines the success of the procedure as regards the accuracy of the genetic diagnosis and the ensuing normality of the pregnancy.

Antenatal Diagnosis

1969 ◽  
Vol 14 (8) ◽  
pp. 277-281 ◽  
Author(s):  
A. E. H. Emery ◽  
M. M. Nelson ◽  
G. Gordon ◽  
D. Burt
Keyword(s):  
High Risk ◽  
Amniotic Fluid ◽  
Early Pregnancy ◽  
Genetic Disease ◽  
Biochemical Composition ◽  
Antenatal Diagnosis ◽  
Sex Chromatin ◽  
Biochemical Studies ◽  
Important Approach ◽  
Exciting Development

The diagnosis of genetic disease in utero in early pregnancy is a new and exciting development with important applications in the management of families with a high risk of producing a child with an hereditary disorder. Techniques currently under investigation are briefly reviewed and include sex chromatin, cytogenetic and biochemical studies on amniotic fluid cells and the biochemical composition of amniotic fluid. The study of amniotic fluid and its contained cells would seem to offer a promising and important approach to the prevention of genetic disease.

Selective treatment of myelomeningocele: To treat or not to treat?

PEDIATRICS ◽  
1974 ◽  
Vol 53 (3) ◽  
pp. 307-308
Author(s):  
John Lorber
Keyword(s):  
Amniotic Fluid ◽  
Antenatal Diagnosis ◽  
Alpha Fetoprotein ◽  
Selective Treatment ◽  
Satisfactory Method ◽  
The Future ◽  
Technical Advances

There never was and perhaps never will be a really satisfactory method of treatment for infants born with severe myelomeningocele, nor for the management of their families, in spite of the best technical advances and the most humane attempts. The best hope for the future lies in prevention of conception of such infants, but we are far from that. The next best hope is early antenatal diagnosis so that at least we can prevent the birth of such infants. The recent discovery that abnormally high levels of alpha-fetoprotein are present in the amniotic fluid of women carrying an infant with spinal or cranial dysraphism has already been put to routine practical use.

COMPARISON OF AMNIOTIC-FLUID AND MATERNAL SERUM ALPHA-FETOPROTEIN LEVELS IN THE EARLY ANTENATAL DIAGNOSIS OF SPINA BIFIDA AND ANENCEPHALY

The Lancet ◽  
1974 ◽  
Vol 303 (7855) ◽  
pp. 429-433 ◽  
Author(s):  
R. Harris ◽  
R.F. Jennison ◽  
A.J. Barson ◽  
K.M. Laurence ◽  
E. Ruoslahti ◽  
...  
Keyword(s):  
Spina Bifida ◽  
Amniotic Fluid ◽  
Antenatal Diagnosis ◽  
Maternal Serum ◽  
Alpha Fetoprotein ◽  
Serum Alpha Fetoprotein
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