Turner syndrome: sonography showing fetal hydrops simulating hydramnios

Alpha‐fetoprotein and ultrasound scanning in the prenatal diagnosis of Turner's Syndrome

“…In accordance with Pawlowitzki and Wormann (1979) and Robinow et al (1980) our results indicate that the integrity of the fetal surface is not impaired in a cystic hygroma, and that the high concentration of AFP found in fluid obtained at amniocentesis is due not to leakage of AFP into amniotic fluid, but to the fluid being obtained from the cystic lesion. In 4 of our cases (1, 2, 4 and 5) the AFP concentration in cystic fluid was very high, however, it was normal or only slightly elevated in amniotic fluid, except for case 5, where leakage of cyst fluid-caused by the puncture of the lesion 2 weeks earlier-may have taken place.…”

“…Our findings can explain the reports of either a very high AFP (Cederqvist et al, 1979;Chemke et al, 1979;Hunter et al, 1976;Pawlowitzki and Wormann, 1979;Robinow et al, 1980) or a normal AFP (Tabor et al, 1981) in similar cases of fetal Turner's Syndrome. The cases reported by Seller et al (1974) should be interpreted differently because these samples were obtained from spontaneous abortions in which the fetuses were macerated.…”

“…Maternal serum AFP concentrations have been found to be normal or only slightly elevated (Cederqvist et al, 1979;Robinow et al, 1980;Tabor et al, 1981). It has been speculated that AFP leaks across the skin covering the cystic hygroma (Hunter et al, 1976) or that the fluids believed to be amniotic fluid actually were drawn from the cystic hygroma (Pawlowitzki and Wormann, 1979;Robinow et al, 1980). We present results of AFP analyses on fluids obtained from 6 cases of fetal chromosome anomalies -5 of them with cystic hygroma-strongly favouring the latter theory.…”

“…Very high concentrations of alpha-fetoprotein (AFP) in amniotic fluid have been reported in several cases of fetal Turner's Syndrome (Cederqvist et al, 1979;Chemke et al, 1979;Hunter et al, 1976;Pawlowitzki and Wormann, 1979;Robinow et al, 1980) although others have found normal concentrations (Tabor et al, 1981). Maternal serum AFP concentrations have been found to be normal or only slightly elevated (Cederqvist et al, 1979;Robinow et al, 1980;Tabor et al, 1981). It has been speculated that AFP leaks across the skin covering the cystic hygroma (Hunter et al, 1976) or that the fluids believed to be amniotic fluid actually were drawn from the cystic hygroma (Pawlowitzki and Wormann, 1979;Robinow et al, 1980).…”

Diagnostic accuracy of paediatric skull radiograph versus whole skeletal survey in skeletal dysplasias and dysostoses in high risk groups

“…Two patients had diffuse decreased density of skull [2], one patient with platybasia and multiple appendicular skeleton fractures turned out to be osteogenesis imperfecta [1,14,15] and another female patient with positive metacarpal sign had turner's syndrome [16,17],other differentials like hypophosphatasia & menkes syndrome should be ruled out. Another two patients had focal decreased density of skull [2] and patients had other features like premature fusion of sutures and diagnosed as craniosynostosis [2,18,19] Fig.…”