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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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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 exencephaly
Prenatal Diagnosis, 1993AbstractThis paper presents a sonographic diagnosis of exencephaly made during the last trimester of gestation. The sonogram showed the absence of bones in the cranial vault together with the presence of a disorganized cerebral mass, with loss of its normal anatomy. Post‐partum examination of the newborn confirmed the findings of the sonogram.
M, Casellas +5 more
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Prenatal diagnosis of fucosidosis
Clinica Chimica Acta, 1975Pregnancy from a family at risk for fucosidosis was monitored. The fetus was diagnosed as having a carrier state of the disease. alpha-L-fucosidase activity, however, was found to be absent in white blood cells obtained from identical twins after delivery. The diagnostic evaluation of (1) the enzyme activity in amniotic fluid and in cultivated amniotic
Matsuda Ichiro +6 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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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 cytogenetic diagnosis
Medical Journal of Australia, 1985A, Smith, N M, Fisk, J C, Anderson
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Health insurance status and cancer stage at diagnosis and survival in the United States
Ca-A Cancer Journal for Clinicians, 2022Jingxuan Zhao +2 more
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