Results 171 to 180 of about 147,199 (219)
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Prenatal diagnosis of galactosialidosis
Prenatal Diagnosis, 1988AbstractThe second prenatal diagnosis of galactosialidosis is reported. Neuraminidase and β‐galactosidase activities in cultured amniotic cells were deficient, this being confirmed by skin fibroblast enzyme assay on the affected fetus after interruption of the pregnancy. Cultured placental cells demonstrated the same enzyme deficiencies.
A C, Sewell, B F, Pontz
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Women's Health Issues, 1992
Although the science of prenatal diagnosis is rapidly expanding, the art of caring for these patients is poorly understood and taught. Prenatal diagnosis programs must acknowledge the psychosocial consequences of electing to undergo prenatal testing, receiving either normal or abnormal test results, and choosing to continue or terminate a pregnancy ...
N C, Chescheir, R C, Cefalo
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Although the science of prenatal diagnosis is rapidly expanding, the art of caring for these patients is poorly understood and taught. Prenatal diagnosis programs must acknowledge the psychosocial consequences of electing to undergo prenatal testing, receiving either normal or abnormal test results, and choosing to continue or terminate a pregnancy ...
N C, Chescheir, R C, Cefalo
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Prenatal diagnosis of haemophilia
Haemophilia, 1999Genotype assessment based on direct identification of the pathogenic mutation in a chorionic villi sample obtained in the 11–12th gestational week is the most reliable method for prenatal diagnosis and should be used if available. Genetic linkage studies of polymorphisms should be the second choice in the assessment of carriers and in prenatal ...
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European Journal of Human Genetics, 1997
Prenatal diagnosis (PND) in Germany is well established. A wide spectrum of sonographic, cytogenetic, molecular and biochemical investigations can be chosen by pregnant women. While sonographic examinations are offered to all pregnant women, the methods requiring invasive procedures are performed predominantly when there is a higher risk than in the ...
R D, Wegner, R, Becker
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Prenatal diagnosis (PND) in Germany is well established. A wide spectrum of sonographic, cytogenetic, molecular and biochemical investigations can be chosen by pregnant women. While sonographic examinations are offered to all pregnant women, the methods requiring invasive procedures are performed predominantly when there is a higher risk than in the ...
R D, Wegner, R, Becker
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Prenatal Diagnosis in Portugal
European Journal of Human Genetics, 1997On practical terms we can say that prenatal diagnosis (PND) only started in Portugal in 1984 after the Abortion Act was approved by Parliament. Since then the demand for PND has been increasing, but we realise that the coverage of high-risk pregnancies as well as screening for fetal abnormalities in the general population are below the desirable levels.
M, Rodrigues Pinto, A M, Tavares Fortuna
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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 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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European Journal of Human Genetics, 1997
Prenatal diagnosis (PND) of genetic disorders is provided without costs to the woman or family, in Norway. However, the volume of examinations is significantly smaller than in most other Western European countries. Prenatal diagnosis because of relatively high maternal age is accepted only if the woman will be 38 years or older at the time of delivery.
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Prenatal diagnosis (PND) of genetic disorders is provided without costs to the woman or family, in Norway. However, the volume of examinations is significantly smaller than in most other Western European countries. Prenatal diagnosis because of relatively high maternal age is accepted only if the woman will be 38 years or older at the time of delivery.
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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 and Screening
Dermatologic Clinics, 1987We have limited the scope of this article to those disorders that have already been successfully diagnosed or excluded in utero. We currently have the potential to diagnose a number of others for which the opportunity has not yet arisen. If a biochemical, morphologic, chromosomal, or DNA alteration is known for a specific condition and is likely to be ...
V P, Sybert, K A, Holbrook
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