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European Journal of Human Genetics, 1997
In Italy, there are about 560,000 births per year. The number of prenatal diagnoses (PND) performed is estimated at 80,000 examinations per year, but no official data are available regarding the distribution of the different procedures. There are no official registers, either at a national or at a regional level, concerning PND and particularly the ...
CLERICI, Graziano +3 more
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In Italy, there are about 560,000 births per year. The number of prenatal diagnoses (PND) performed is estimated at 80,000 examinations per year, but no official data are available regarding the distribution of the different procedures. There are no official registers, either at a national or at a regional level, concerning PND and particularly the ...
CLERICI, Graziano +3 more
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European Journal of Human Genetics, 1997
Prenatal diagnoses (PND) in Belgium are performed exclusively in licensed centres of medical genetics linked to university hospitals. These centres of genetics provide comprehensive genetic services which include, in addition to genetic tests, genetic counselling and moral support.
Vamos, Eszter +2 more
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Prenatal diagnoses (PND) in Belgium are performed exclusively in licensed centres of medical genetics linked to university hospitals. These centres of genetics provide comprehensive genetic services which include, in addition to genetic tests, genetic counselling and moral support.
Vamos, Eszter +2 more
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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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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 Hemoglobinopathies
Clinics in Perinatology, 1979Abstract We attempted prenatal diagnosis of hemoglobinopathies in 15 cases — 11 for β-thalassemia and four for sickle-cell disease. Fetoscopy was used in seven cases, and placental aspiration in eight. One premature labor, with fetal loss, followed placental aspiration.
D G, Nathan, B P, Alter, S H, Orkin
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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) 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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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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