Results 251 to 260 of about 4,187,133 (314)
Some of the next articles are maybe not open access.
Prenatal diagnosis and management of omphalocele.
Seminars in Pediatric Surgery, 2019Omphalocele (exomphalos) is one of the most common abdominal wall defects. The size of the defect and the severity of the associated anomalies determine the overall morbidity and mortality.
Mariatu A. Verla, C. Style, O. Olutoye
semanticscholar +1 more source
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
openaire +3 more sources
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
openaire +3 more sources
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.
Thomas Rosenberg, Marianne Schwartz
openaire +3 more sources
Prenatal diagnosis of haemophilia
Haemophilia, 1996Genotype 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 ...
openaire +5 more sources
Fetoscopy in Prenatal Diagnosis
Clinics in Perinatology, 1983This article details the developing consensus concerning the techniques, indications, and safety of fetoscopy.
openaire +4 more sources
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.
Lillian Y. F. Hsu +5 more
openaire +3 more sources
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.
Lillian Y. F. Hsu +5 more
openaire +3 more sources
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. A. Martinez +5 more
openaire +3 more sources
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,
openaire +4 more sources
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
Ikeuchi Tatsuro +6 more
openaire +3 more sources
Prenatal diagnosis of lissencephaly
Prenatal Diagnosis, 1991AbstractWe report two cases of prenatal detection of lissencephaly by high‐resolution ultrasound. The first case studied was referred for high‐risk obstetrical management and serial antenatal ultrasounds because of a family history of lissencephaly in an unresolved chromosomal abnormality.
Daniel H. Saltzman +6 more
openaire +3 more sources