Prenatally diagnosed non-immune hydrops caused by congenital transient leukaemia

Congenital transient leukaemia (CTL) is a haematological disorder characterized by proliferation of myeloblasts within the bone marrow and peripheral blood of affected newborns. Infants with Down syndrome are most frequently affected and although the disorder can result in fetal death due to hydrops, it typically resolves spontaneously after birth. We present a case of prenatally diagnosed fetal hydrops accompanied by splenomegaly and an enlarged, echogenic liver in a fetus identified with CTL after birth.     

First trimester serum screening for down's syndrome

Screening for Down's Syndrome has been shown to be effective at 10 weeks of pregnancy. A multicentre study (the First trimester serum screening study) has shown that there are two biochemical markers of choice at this time in pregnancy, namely pregnancy associated placental protein A (PAPP-A) and the free β-sub-unit of human chorionic gonadotrophin (free β-hCG). When used together with maternal age these two biochemical markers have an estimated detection rate of 62% and a 5% false-positive rate. The results are consistent with those obtained from a systematic review of the world literature. Other markers are less predictive of Down's syndrome though there is still some uncertainty over the value of dimeric inhibin-A at 10 weeks of pregnancy. Nuchal translucency measurement, from an ultrasound examination performed at about 10 weeks of pregnancy, is associated with Down's syndrome and is emerging as an important potential screening marker. At present there is uncertainty over its quantitative performance and performance when combined with biochemical markers. The resolution of these issues is currently the subject of active research. Ten week screening for Down's syndrome is an advance that is now technically possible though there is still insufficient information to justify its use in routine screening practice.     

Determining indoor air quality and identifying the origin of odour episodes in indoor environments

A methodology for identifying volatile organic compounds (VOC) and determining air quality of indoor air has been developed. The air samples are collected using pump samplers by the inhabitants when they perceive odorous and/or discomfort episodes. Glass multi-sorbent tubes are connected to the pump samplers for the retention of VOC. The analysis is performed by automatic thermal desorption (ATD) coupled with gas chromatography-mass spectrometry (GC/MS). This methodology can be applied in cases of sick building syndrome (SBS) evaluation, in which building occupants experience a series of varied symptoms that appear to be linked to time spent in the building. Chemical pollutants concentrations (e.g., VOC) have been described to contribute to SBS. To exemplify the methodology, a qualitative determination and an evaluation of VOC present were performed in a dwelling where the occupants experienced the SBS symptoms. Higher total VOC (TVOC) value was detected in episodes in indoor air (1.33 ( 1.53 mg/m3) compared to outdoor air (0.71 ( 0.46 mg/m3). The concentrations of individual VOCs, such as ethanol, acetone, isopropanol, 1-butanol, acetic acid, acetonitrile and 1-metoxy-2-propanol, were also higher than the expected for a standard dwelling. The external source of VOC was found to be a not declared activity of storage and manipulation of solvents located at the bottom of a contiguous building.