Prognosis of fetuses with a cystic hygroma

This paper reports our experience with 55 fetuses identified in utero to have a cystic hygroma. The outcome of fetuses with an isolated cystic hygroma, cystic hygroma with non-immune hydrops, and cystic hygroma with multiple anomalies was evaluated. Approximately two-thirds of karyotypes were aneuploid, and a strong association of septation and aneuploidy existed. Only five cases, four of which had isolated hygromas, came to term and resulted in live births. Two of these involved small non-septated lesions which resolved in utero.     

The role of DNA microarrays in the evaluation of fetal death

Fetal death occurs in 15% of clinically recognized pregnancies. Cytogenetic abnormalities are present in 50% of spontaneous abortions (fetal deaths < 20 weeks) whereas the rate is 6% to 13% for stillbirths (fetal deaths ≥ 20 weeks). Microarray has been demonstrated to increase the diagnosis of genetic abnormalities by providing coverage of the entire genome at a higher density, detecting as small as 50 to 100 kb deletions or duplications, known as copy number changes. Microarray is particularly suited for evaluation of fetal death because DNA can still be analyzed in macerated fetuses and nonviable tissue, two situations where culturing and karyotyping is known to have low yield. Microarray has already proven successful in providing additional genetic information beyond karyotype in spontaneous abortion. The few studies on the use of microarray in stillbirth evaluation have been promising, demonstrating an increase in the diagnosis of clinically relevant genetic abnormalities when compared with karyotype. As the cost and technology improve, microarray may ultimately become the first line screen for genetic abnormalities in stillbirth. The accurate diagnosis of a genetic abnormality as the cause for fetal death may provide closure for families, prevent unnecessary treatments, and enable clinicians to more accurately counsel and manage subsequent pregnancies. © 2012 John Wiley & Sons, Ltd.     

芘污染对马氏珠母贝(Pinctada martensi)D型面盘幼虫发育的影响

多环芳烃(PAHs)是一类广泛存在于环境中的持久性有机污染物,大多具有潜在毒性、致癌性及致畸诱变作用。选取马氏珠母贝(Pinctada martensi)作为模式动物,研究芘对马氏珠母贝D型面盘幼虫发育的影响。将马氏珠母贝D型面盘幼虫暴露于不同浓度(2、4、8、16和32μg·L-1)芘(pyrene)中,在暴露后第12、24、36、48、60、72和84小时,分别测定其死亡率和畸形率,并观察形态学的变化。结果表明,芘对D型面盘幼虫的发育有显著影响,同一浓度组的死亡率与时间呈正相关。在2～32μg·L-1浓度范围内,不同暴露时间段,死亡率与浓度呈正相关。芘暴露对马氏珠母贝D型面盘幼虫的形态也有显著影响,随着芘浓度的增大幼虫畸形的比例增高,并呈现明显的剂量-效应关系,其中8和32μg·L-1浓度组的响应最敏感。同时,芘暴露对马氏珠母贝D型面盘幼虫的半数致死浓度(LC50)随着时间的推移逐渐降低,60h后趋于稳定,LC50值为43.50μg·L-1。研究结果表明,芘暴露能影响马氏珠母贝D型面盘幼虫的发育,并可能对其种群结构产生不利影响。     

Prenatal diagnosis of congenital non-bullous ichthyosiform erythroderma (lamellar ichthyosis)

We report the first positive prenatal diagnosis ofcongenital non-bullous ichthyosiform erythroderma or lamellar ichthyosis. Fetal skin samples were obtained by fetoscopy at 21 weeks' gestation and examined by light and electron microscopy. Light microscopy revealed a thickened interfollicular epidermis with multiple layers of flattened cells and excessive keratinization of the epidermal lining of the follicular infundibulum. Electron microscopy of the thickened epidermis revealed granular cells that contained larger-than-normal keratohyalin granules and multiple layers of parakeratotic cornified cells. Although there was regional variation in the degree of interfollicular keratinization, follicles from all regions showed greater and more complete keratinization, indicating that they express the abnormality early enough in development to permit prenatal diagnosis at about 20 weeks' gestation.