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491.
Gross scoliosis of the fetal thoracic spine was diagnosed at 18 weeks gestation. The pregnancy was terminated and the fetus found to have webbing of the neck and an imperforate anus in addition to vertebral defects. 相似文献
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496.
Prenatal diagnosis in a kindred with the Opitz (BBB) syndrome is presented. The inheritance is consistent with either autosomal dominant inheritance with sex limited expression or X-linked inheritance. The abnormalities in the kindred consist of hypertelorism, hypospadias, ambiguous genitalia, urocolic fistula, imperforate anus, mental retardation, diaphragmatic hernia, and malrotation with volvulus. A male fetus at 19 weeks was found by ultrasound to have hypertelorism and hypospadias with a small phallus consistent with the syndrome. The diagnosis was confirmed by pathologic examination after pregnancy termination. This is the first report of prenatal diagnosis of Opitz syndrome by ultrasonographic demonstration of hypertelorism and hypospadias in the second trimester. 相似文献
497.
Fetal urinary insulin-like growth factor I and binding protein 3 in bilateral obstructive uropathies
L. Bussieres K. Laborde J. C. Souberbielle F. Muller M. Dommergues C. Sachs 《黑龙江环境通报》1995,15(11):1047-1055
Fetal urinary concentrations of insulin-like growth factor I (UIGF-I) and binding protein 3 (UIGFBP-3) were determined in patients with prenatal diagnosis of bilateral obstructive uropathy. Patients were retrospectively assigned to three groups, on the basis of outcome: group 1, termination of pregnancies (n = 11) with sonographic evidence of severe oligohydramnios or renal dysplasia, confirmed at histological examination; group 2, patients (n = 10) with postnatal plasma creatinine > 50 μmol/1 at the age of 1 year (1 yr-pCreat); and group 3, patients (n = 16) with 1 yr-pCreat ≤ μmol/1. The results show a significant increase in UIGF-I and UIGFBP-3 in groups 1 (18 159 ± 9083 pg/ml; 2657 ± 669 ng/ml) and 2 (1574 ± 847 pg/ml; 176 ± 50 ng/ml) in comparison with group 3 (35 ± 6 pg/ml; 21 ± 2 ng/ml). UIGF-I and UIGFBP-3 were significantly correlated with postnatal plasma creatinine, and were both sensitive (90 per cent; 80 per cent) and specific (88 per cent; 88 per cent) for prediction of elevated 1 yr-pCreat (>50 μmol/1). Fetal urinary IGF-I and IGFBP-3 are increased in severe fetal bilateral obstructive uropathy, possibly reflecting tubular dysfunction or/and increased synthesis consequent upon fetal kidney injury. Their predictive value for postnatal renal function needs further assessment. 相似文献
498.
Prenatal diagnosis in a pregnancy at risk for a juvenile B1 variant of GM2-gangliosidosis was carried out. The biochemical study of the cultured amniocytes and the affected fetal brain is reported. The results obtained show that the sulphated artificial substrate can be used in the diagnosis of B1 variant, but not the neutral one. The accumulation of GM2-ganglioside in the fetal brain of the B1 juvenile form and an infantile form of GM2-gangliosidosis (0 variant) was compared. 相似文献
499.
Prenatal diagnosis on chorionic villous tissue was performed for a woman with the karyotype 46,XX,t(2;18)(q32;q12)—a subtle ‘difficult’ translocation. The case illustrates the necessity of good quality cytogenetics for accurate prenatal diagnosis. For chorionic villi this can be obtained only with long-term culture. 相似文献
500.
Klaus Peter Sauer Thomas Lubjuhn Jörn Sindern Harald Kullmann Joachim Kurtz Conny Epplen Jörg Thomas Epplen 《Die Naturwissenschaften》1998,85(5):219-228
Panorpa vulgaris has become a model insect for testing theories of sexual selection. This contribution summarizes that which has been learned
in recent years and presents new data that clearly show that the mating system of P. vulgaris is not simply a resource-defense polygyny, as has previously been thought. In P. vulgaris neither the pattern in food exploitation nor the ratio of variance in the lifetime reproductive success of the two sexes
is in accordance with that expected in resource defense polygynous mating systems. Lifetime mating duration is the most important
proximate determinant of male fitness. Males employing alternative mating tactics obtain copulations of varying duration in
relation to the following sequence: saliva secretion 1 food offering 1 no gift. The number of salivary masses which males
provide to females during their lifetime is significantly correlated with the lifetime condition index. The condition index
depends on the fighting prowess of males and their ability to find food items. Thus saliva secretion of Panorpa is considered a Zahavian handicap, which can serve as an honest quality indicator used by mating females. Our results confirm
four main predictions of the indicator model of the theory of sexual selection: (a) the indicator signals high ecological
quality of its bearer, (b) the indicator value increases with phenotypic quality, (c) the indicator value is positively correlated
with the genetic quality affecting offspring fitness in a natural selection context, and (d) the quality indicator is more
costly for low- than for high-quality individuals. The evolutionary consequences of the mating pattern and the sperm competition
mechanism in P. vulgaris are discussed in the context the way in which sexual selection creates and maintains sperm mixing and the evolution of a
promiscuous mating system. 相似文献