Pitfalls in the prenatal diagnosis of peroxisomal β-oxidation defects by chorionic villus sampling

Variability in the level of expression of very long chain fatty acids (VLCFAs) is documented in cultured chorionic villus (CV) cells derived from two fetuses, one at risk for an unusual peroxisomal fatty acid β-oxidation defect, and the other at risk for the X-linked form of adrenoleucodystrophy (ALD). Cells from early subcultures of chorionic cells from both cases gave normal values for VLCFA ratios. The results for the fetus at risk for the β-oxidation defect were interpreted to indicate that the fetus was not affected; however, at birth, the infant was clinically and biochemically affected. In the case of the fetus at risk for X-linked ALD, although VLCFAs were normal in subculture 1, the levels of these fatty acids increased dramatically in subculture 3, suggesting an abnormal fetus. Termination of the pregnancy and subsequent biochemical and morphological follow-up confirmed that the fetus was indeed affected by ALD.     

Prenatal detection of trisomy 21 in uncultured amniocytes by fluorescence in situ hybridization: A prospective study

A prospective study was undertaken to evaluate the use of fluorescence in situ hybridization (FISH) for the detection of trisomy 21 in interphase nuclei of uncultured amniotic fluid cells. Five hundred cases were analysed in situ and classified as normal or abnormal; the results were subsequently checked against the cytogenetic findings. Four hundred and ninety-three were correctly identified as normal with an 86·6 per cent average frequency of scored nuclei exhibiting two signals; six cases were correctly identified as trisomic for chromosome 21 with 81·7 per cent of scored nuclei exhibiting three signals; and one abnormal case involving an unbalanced chromosome 21·21 translocation was falsely scored as normal due to poor hybridization/detection efficiency. The method has been substantially improved and simplified so that it is suitable for the rapid detection of trisomy 21. As aneuploidy detection in interphase does not identify structural chromosome aberrations, it is not a substitute for fetal chromosome analysis.     

MSAFP levels and oesophageal atresia

This study was undertaken to evaluate the relationship between maternal serum alpha-fetoprotein (MSAFP) levels and oesophageal atresia (OA). OA occurred in 16 fetuses of mothers who had an MSAFP test in the study interval. The multiple of the median (MOM) value for MSAFP averaged 1·54 ± 0·65 (range 0·5–2·9 MOM), which was significantly higher than the value seen in controls. The median MOM was 1·35. Using a cut-off of 2·5 MOM, the sensitivity of MSAFP for detecting OA was 19 per cent. Although OA should be considered in the differential diagnosis of an elevated MSAFP level, MSAFP cannot be considered an appropriate screening test for OA given the low sensitivity.     

Hydrologic Controls on Nitrogen and Phosphorous Dynamics in Relict Oxbow Wetlands Adjacent to an Urban Restored Stream

Although wetlands are known to be sinks for nitrogen (N) and phosphorus (P), their function in urban watersheds remains unclear. We analyzed water and nitrate (NO₃^?) and phosphate (PO₄^3?) dynamics during precipitation events in two oxbow wetlands that were created during geomorphic stream restoration in Baltimore County, Maryland that varied in the nature and extent of connectivity to the adjacent stream. Oxbow 1 (Ox1) received 1.6‐4.2% and Oxbow 2 (Ox2) received 4.2‐7.4% of cumulative streamflow during storm events from subsurface seepage (Ox1) and surface flow (Ox2). The retention time of incoming stormwater ranged from 0.2 to 6.7 days in Ox1 and 1.8 to 4.3 days in Ox2. Retention rates in the wetlands ranged from 0.25 to 2.74 g N/m²/day in Ox1 and 0.29 to 1.94 g N/m²/day in Ox2. Percent retention of the NO₃^?‐N load that entered the wetlands during the storm events ranged from 64 to 87% and 23 to 26%, in Ox1 and Ox2, respectively. During all four storm events, Ox1 and Ox2 were a small net source of dissolved PO₄^3? to the adjacent stream (i.e., more P exited than entered the wetland), releasing P at a rate of 0.23‐20.83 mg P/m²/day and 3.43‐24.84 mg P/m²/day, respectively. N and P removal efficiency of the oxbows were regulated by hydrologic connectivity, hydraulic loading, and retention time. Incidental oxbow wetlands have potential to receive urban stream and storm flow and to be significant N sinks, but they may be sources of P in urban watersheds.