The 48,XXYY syndrome: A case detected by maternal serum alpha-fetoprotein screening

A 17-year-old woman was referred for amniocentesis due to a low maternal serum alpha-fetoprotein (AFP) concentration in a voluntary screening test. The fetal karyotype was 48,XXYY, and the pregnancy was terminated. Autopsy of the fetus disclosed agenesis of the corpus callosum and unusual facial features.     

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.     

First-trimester prenatal diagnosis of aspartylglucosaminuria

Fetal aspartylglucosaminuria (AGU) was studied during the first trimester of pregnancy in six at-risk pregnancies using chorionic villus samples. The activity of aspartylglucosaminidase (AGA) was high in five cases, indicating an unaffected fetus. This was confirmed through delivery of healthy newborns with a normal pattern of urinary oligosaccharides. Low enzyme activity in an uncultured biopsy specimen and in cultured amniotic fluid cells in one case demonstrated that the fetus was affected. The pregnancy was terminated and the prenatal diagnosis was confirmed by showing reduced AGA activity in cultured fibroblasts of the fetus.     

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。