Renatal diagnosis of mosaic tetrasomy 12p/trisomy 12p by fluorescent in situ hybridization in amniotic fluid cells: A case report of pallister–killian syndrome

A prenatally detected case of a rare mosaic tetrasomy 12p/trisomy 12p is reported, presenting as the well-known accessory isochromosome 12p and a supernumerary single 12p marker in 17/24 and 6/24 clones of cultured amniotic fluid cells, respectively. The chromosomal nature of both marker chromosomes was investigated in cultured amniotic fluid cells by fluorescent in situ hybridization with various probes: the 12-centromeric probes pa12H8 and D12Z3, a whole chromosome 12 paint, and the chromosome 12p-specific paint M28. DNA analysis revealed a maternal origin of the extra 12p material. After counselling, the parents requested termination of pregnancy. Inspection and autopsy of the fetus revealed many of the dysmorphisms and internal structural abnormalities of the Pallister–Killian syndrome.     

Human parvovirus B19 infection and unbalanced translocation in a case of hydrops fetalis

In a case of hydrops fetalis, serological examination showed a recent maternal human parvovirus B19 infection. Amniocentesis revealed a unique unbalanced translocation between chromosomes 3 and 11 of the fetus. The mother proved to have a balanced reciprocal translocation between chromosomes 3 and 11. A grossly macerated hydropic male fetus was delivered with a flat nose and low implanted deformed ears. Histopathological examination revealed nuclear inclusion bodies in fetal erythroid cells, confirming human parvovirus B19 infection. Parvovirus B19 DNA was demonstrated by in situ hybridization in the nuclei of heart muscle cells. Our finding of two different disorders in one case illustrates the importance of a complete evaluation of every case of hydrops fetalis, especially concerning counselling on the outcome of future pregnancies. The human parvovirus B19 infection will not recur due to the acquired immunity of the mother, whereas the balanced reciprocal translocation will endanger future pregnancies.     

Mesoderm induction by transforming growth factor β: Medium conditioned by TGF-β-treated ectoderm enhances the inducing activity

Dedicated to Professor Dr. Tuneo Yamada on the occasion of his 80th birthday.     

False-negative amniotic fluid acetylcholinesterase in a case of meningo-encephalocele

We describe a patient with a significantly elevated serum alphafetoprotein (AFP) concentration at 17 weeks of gestation, who showed only a marginally increased amniotic fluid AFP and lacked the second rapidly migrating band of acetylcholinesterase electrophoresis. Ultrasound examination revealed an encephalocele and ventriculomegaly. Autopsy showed that the encephalocele was not covered by skin.     

In vitro characteristics of human fetal cells obtained from chorionic villus sampling and amniocentesis

In vitro characteristics of human fetal cells have been investigated after chorionic villus sampling at the first trimester and amniocentesis at the second trimester of pregnancy. Light microscopy revealed heterogeneous morphology of cell types in both the chorionic villus culture and the amniotic fluid cultures. Based on the experiments performed, chorionic villus cells are more sensitive to pronase, trypsin, and versene during subculture and have a higher DNA content per single cell and release more [¹²⁵I]-Beta-human chorionic gonadotropin into culture medium than those found in amniotic fluid cells. The practical applications of this study are discussed.     

厦门西港海水质量对鱼卵胚胎发育畸形率的影响

以养殖场培育的花尾胡椒鲷受精卵为实验材料测试了厦门西域5个站位的表层水水样对花尾胡椒鲷受精卵的胚胎发育毒性，并运用GC－MS手段分析了水样中的美国EPA优控的16PAHs组分的含量。结果表明：3号站位（厦门市工业和生活污水主要排放口的外侧）和4号站位（厦门西港的港区）的水样对鱼卵的胚胎发育的毒性最强。8号站位（位于主航道并濒临嵩屿电厂）的水样对鱼卵胚胎发良的毒性次之，1号站位（湾口）和5号站位（内港）的水样对鱼卵的胚胎发育的毒性较小。水样中的PAHs含量分析结果表明，仅用水样中的PAHs含量不能全面地反映水样对鱼卵胚胎发育的毒性。最后，对本实验方法应用于海洋环境生物监测的有效性进行了探讨。