Prenatal detection of trisomy 9 mosaicism

Chromosomal mosaicism in amniotic fluid cells poses a serious dilemma in prenatal diagnosis since the observation may represent: (1) pseudomosaicism—an inconsequential tissue culture artefact; or (2) true mosaicism—occurring in approximately 0.0 per cent of amniocenteses with a significant impact on pregnancy outcome. Mosaicism for trisomy 9 was observed in an amniotic fluid specimen obtained for advanced maternal age with two cell lines [46,XX (46 per cent)/47,XX, + 9 (54 per cent)] present in each of four culture flasks. Since more than 75 per cent of newborns with trisomy 9 mosaicism have complex cardiac malformations, a fetal echocardiogram was obtained at 20 weeks' gestation and interpreted as normal. A fetal blood sample (22 weeks' gestation) disclosed only a single trisomy 9 cell among the 100 metaphases analysed. However, a second fetal echocardiogram performed at the time of blood sampling suggested a non-specific cardiac anomaly. Fetal autopsy following elective pregnancy termination revealed several malformations including severe micrognathia, persistence of the left superior vena cava, and skeletal anomalies. Cytogenetic studies of cell cultures derived from several fetal tissues demonstrated trisomy 9 ranging from 12 to 24 per cent.     

岛屿生境下苦槠丛枝菌根(AM)与根际土壤磷酸酶活性的相关性研究

以浙江千岛湖典型生境片断化区域苦槠(Castanopsis sclerophylla)为材料,研究了水库形成后岛屿化导致的群落生境差异对苦槠AM侵染率的影响以及AM侵染率与根际土壤磷酸酶活性的相关性.结果表明,以生境面积为因子进行单因素方差分析,则不同岛屿生境对苦槠AM侵染率影响差异不显著;但以Pearson相关性分析,AM侵染率与岛屿面积之间呈显著负相关.苦槠根际土壤酸性磷酸酶活性在中岛、大岛与陆地间差异显著,但与AM侵染率之间无显著相关性.     

Prenatal diagnosis of hemoglobinopathies in twin pregnancies by double simultaneous fetoscopy

A new technique for sampling fetal blood in twin pregnancies using two fetoscopes simultaneously is described. Two fetoscopes were inserted, one after the other, into both amniotic cavities and fetal blood samples were obtained from either the chorionic plate vessels or the umbilical cord insertion area. The observation of the bright tip of the second fetoscope behind the septum using the first fetoscope assured the successful entry of the two fetoscopes into the two different amniotic sacs. This technique was performed on 15 out of 17 patients. In all patients the fetuses were at risk of β-thalassemia major. Sampling was successful in all cases. Double simultaneous fetoscopy seems to be a safe and accurate technique without technical problems or complications. The simultaneous use of two fetoscopes opens new possibilities in intrauterine fetal surgery and research.     

Prenatal sonographic diagnosis of metastatic neuroblastoma: Report of a case and review of the literature

Congenital malignant tumours are rare. Neuroblastoma is the most common solid tumour, accounting for about 30–50 per cent of tumours evident during the neonatal period. A case of metastatic, rapidly growing neuroblastoma, diagnosed prenatally by ultrasound at 32 weeks' gestation, is presented.     

Echocardiographic diagnosis of fetal marfan syndrome at 34 weeks' gestation

Fetal echocardiography was performed during the third trimester in a normal primigravida. The fetal heart was severely affected with the typical cardiac manifestations of Marfan syndrome. The medical history of the father was investigated and a mild form of the syndrome was diagnosed. The neonate died at 2 months of age of congestive heart failure.     

Umbilical and uterine flow velocity waveforms in pregnancies complicated by major fetal anomalies

A continuous wave Doppler unit was used to obtain umbilical and uterine artery flow velocity waveforms in pregnancies complicated by a major fetal abnormality. A total of 139 examinations were performed on 32 women between 26 to 41 weeks' gestation, and the records were reviewed to determine the changes associated with fetal malformation. The systolic/diastolic (A/B) ratio was used as an index of blood flow resistance in the umbilical artery and the systolic minus diastolic divided by systolic (A–B)/A for the branches of the uterine artery. Seventeen out of 32 patients showed high systolic/diastolic ratio in waveforms taken from the umbilical artery. In 30 out of 32 patients the uterine artery waveform was normal (in two patients the results were equivocal). It appears that a fetal mechanism may determine the changes in the umbilical placental circulation resulting in an umbilical artery pattern of high flow resistance in more than half of the patients with congenital anomalies.     

Long-term impacts of exposure to high temperatures on human capital and economic productivity

Weather anomalies have a range of adverse contemporaneous impacts on health and socio-economic outcomes. This paper tests if temperature anomalies around the time of birth can have long-term impacts on individuals' economic productivity. Using unique data sets on historical weather and earnings, place and date of birth of all 1.5 million formal employees in Ecuador, we find that individuals who have experienced in-utero temperatures that are 1 °C above average are less educated and earn about 0.7% less as adults. Results are robust to alternative specifications and falsification tests and suggest that warming may have already caused adverse long-term economic impacts.