Results 251 to 260 of about 2,436,409 (301)
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Prenatal diagnosis of galactosemia
Clinica Chimica Acta, 1977Prenatal diagnosis of disorders of galactose metabolism was done in one instance in a family with a known galactokinase deficiency and in six cases in five families at risk for galactosemia. The galactokinase activity in cultured amniotic cells was found to be normal, and the diagnosis was confirmed postnatally.
W G, Ng +4 more
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European Journal of Human Genetics, 1997
In Finland the local authorities are responsible for the provision of prenatal diagnostic services for the communities or the community pays for the visits of its citizens to the larger hospitals. The local authorities have autonomy in making the policies for prenatal diagnosis, which leads to an uneven availability of the services, i.e.
R, Salonen, P, Ammälä
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In Finland the local authorities are responsible for the provision of prenatal diagnostic services for the communities or the community pays for the visits of its citizens to the larger hospitals. The local authorities have autonomy in making the policies for prenatal diagnosis, which leads to an uneven availability of the services, i.e.
R, Salonen, P, Ammälä
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Prenatal diagnosis of choroideremia
Acta Ophthalmologica Scandinavica, 1996ABSTRACT With the mapping of the locus CHM for choroideremia and the subsequent cloning of the gene, reliable carrier and prenatal diagnosis has become a possibility. We discuss our experience with prenatal diagnosis of choroideremia, an X‐linked choroidoretinal dystrophy leading to blindness in otherwise healthy males.
M, Schwartz, T, Rosenberg
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Prenatal diagnosis by ultrasound
The Journal of Perinatal & Neonatal Nursing, 1989Prenatal diagnosis is defined as the determination of the nature of a disease in the fetus. Although only 3% to 5% of infants are born with a birth defect, prenatal diagnosis is an expanding field in health care practice. Prenatal diagnosis involves the disciplines of obstetric ultrasound, laboratory study for chromosome analysis/biochemical evaluation,
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Prenatal diagnosis of fucosidosis
Clinical Genetics, 1976A pregnancy from a family at risk for fucosidosis was monitored. Determinations of fucosidase and mannosidase were performed on the serum and white blood cells of several members of the family, on amniotic fluid and amniotic fluid cells of the fetus at several passages, and on fibroblast cell lines from index cases.
L, Poenaru +5 more
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An Abuse of Prenatal Diagnosis
JAMA: The Journal of the American Medical Association, 1972To the Editor.— A recent situation pointed out for me a possible abuse of prenatal chromosome evaluation of the fetus. The patient, a 38-year-old mother of one boy and two girls, asked her obstetrician for an amniocentesis to rule out Down's syndrome.
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Prenatal Diagnosis in Luxembourg
European Journal of Human Genetics, 1997Social and medical issues regarding prenatal diagnosis in Luxembourg are addressed. The organisation and the overall impact of amniocentesis on aneuploid births are described. Legal aspects are discussed as are future developments.
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Clinical Genetics, 1978
With the combination of the various banding techniques (G, Q, and R), a small deletion of the short arm of a No. 5 chromosome was detected prenatally in the pregnancy of a 39–year‐old woman. The deletion appeared to be either interstitial in nature, involving part of p13 and p14, or the result of a translocation with deletion of pl3→pter.
K, David +5 more
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With the combination of the various banding techniques (G, Q, and R), a small deletion of the short arm of a No. 5 chromosome was detected prenatally in the pregnancy of a 39–year‐old woman. The deletion appeared to be either interstitial in nature, involving part of p13 and p14, or the result of a translocation with deletion of pl3→pter.
K, David +5 more
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Prenatal diagnosis of triploidy
International Journal of Gynecology & Obstetrics, 1983AbstractTwo cases of late midtrimester triploid gestation are presented. This unusual condition might be suspected in cases of first and second trimester bleeding when the uterus appears to be unusually large as estimated by the menstrual history. Early presence of gestational hypertension also points suggestively toward a triploid fetus.
M S, Chatterjee +3 more
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AMNIOCENTESIS FOR PRENATAL DIAGNOSIS
Clinical Obstetrics and Gynecology, 1981Amniocentesis is a relatively safe and reliable procedure. However, there probably is a slightly increased risk of fetal loss following amniocentesis (approximately 0.5%). Other risks are minimal. Amniocentesis should be performed by obstetrician-gynecologists familiar with both the indications for the technique of second-trimester genetic ...
M S, Verp, A B, Gerbie
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