Results 261 to 270 of about 146,711 (318)
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Prenatal Diagnosis of Hypophosphatasia
New England Journal of Medicine, 1976Hypophosphatasia is a rare, recessively inherited metabolic disorder characterized by low serum and tissue alkaline phosphatase, the presence of phosphoethanolamine in the urine1 , 2 and osseous ch...
N L, Rudd +4 more
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Prenatal Diagnosis by Amniocentesis
Annual Review of Medicine, 1985One of the major applications of somatic cell genetics to clinical medicine is in the area of prenatal diagnosis by genetic amniocentesis, which permits the accurate prediction of fetal disease and allows pregnant women to selectively maintain unaffected fetuses.
A, Robinson, G P, Henry
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European Journal of Human Genetics, 1997
Prenatal diagnosis (PND) in Denmark is covered by 5 genetic departments. More than 10% of all pregnancies are monitored by amniocentesis (AC) or chorionic villus sampling (CVS). Prenatal cytogenetic analyses are recorded in the Danish Central Cytogenetic Register (DCCR), which provides information on individual cases for genetic counselling and allows ...
C, Lundsteen, L O, Vejerslev
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Prenatal diagnosis (PND) in Denmark is covered by 5 genetic departments. More than 10% of all pregnancies are monitored by amniocentesis (AC) or chorionic villus sampling (CVS). Prenatal cytogenetic analyses are recorded in the Danish Central Cytogenetic Register (DCCR), which provides information on individual cases for genetic counselling and allows ...
C, Lundsteen, L O, Vejerslev
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PREIMPLANTATION PRENATAL DIAGNOSIS
Obstetrics and Gynecology Clinics of North America, 1993Preimplantation prenatal diagnosis refers to the application of molecular genetic techniques to the assessment of gametes before conception or to early embryos before implantation. Such techniques could allow couples at significant risk for a variety of known genetic diseases to use assisted reproductive technology in achieving pregnancies that are ...
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Prenatal Diagnosis of Hemoglobinopathies
Clinics in Perinatology, 1990Hemoglobinopathies are frequently occurring disorders for which prenatal diagnosis is possible. Couples in which one parent has microcytic hypochromic red blood cells; is of Southeast Asian, Mediterranean, Middle Eastern, Indian, or African origin; or had one previous child with a known hemoglobinopathy or a previous hydropic stillbirth should be ...
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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 craniopagus
Acta Obstetricia et Gynecologica Scandinavica, 1991The long‐term prognosis of craniopagus, a congenital abnormality of monozygotic twinning, is strictly correlated to the type of shared cerebral structures. Hence, the purpose of prenatal diagnosis is not only to detect this malformation, but also to identify the fused cerebral structures.
LOVERRO G +4 more
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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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