First-trimester fetal sex determination in maternal serum using real-time PCR

An Erratum has been published for this article in Prenatal Diagnosis 22(13) 2002, 1241. Fetal sex prediction can be achieved using PCR targeted at the SRY gene by analysing cell-free fetal DNA in maternal serum. Unfortunately, the results reported to date show a lack of sensitivity, especially during the first trimester of pregnancy. Therefore, determination of fetal sex by maternal serum analysis could not replace karyotype analysis following chorionic villus sampling. A new highly sensitive real-time PCR was developped to detect an SRY gene sequence in maternal serum. Analysis was performed on 121 pregnant women during the first trimester of pregnancy (mean gestational age: 11.8 weeks). Among them, 51 had at least one previous male-bearing pregnancy. Results were compared with fetal sex. SRY PCR analysis of maternal serum was in complete concordance with fetal sex. Among the 121 pregnant women, 61 were bearing a male fetus and 60 a female fetus. No false-negative results were observed. Furthermore, no false-positive results occurred, even though 27 women carrying a female fetus during the current pregnancy had at least one previous male-bearing pregnancy. This study demonstrates that a reliable, non-invasive sex determination can be achieved by PCR analysis of maternal serum during the first trimester of pregnancy. This non-invasive approach for fetal sex prediction should have great implications in the management of pregnant women who are carriers of an X-linked genetic disorder. Prenatal diagnosis might thus be performed for male fetuses only, avoiding invasive procedures and the risk of the loss of female fetuses. Copyright © 2001 John Wiley & Sons, Ltd.     

Funipuncture for fetocide in late termination of pregnancy

The most widely used method for fetocide in late termination of pregnancy for fetal abnormalities (TOPFA) consists of injecting of potassium chloride (KCl) into the fetal heart and is likely to be painful after 22 weeks of gestation. We studied ten consecutive women undergoing TOPFA between 22 and 38 weeks. This technique for fetocide consisted of a single umbilical vein puncture under ultrasound guidance with injections of sufentanil 5 µg followed by KCl 2 g. No electrocardiographic modifications could be observed and maternal plasma potassium levels did not show any significant variation throughout the procedure. Fetal umbilical phlebotomy for fetal analgesia followed by fetocide therefore appears to be a safe procedure for the mother and allows the fetus to die without pain when late termination of pregnancy (TOP) is indicated. Copyright © 2002 John Wiley & Sons, Ltd.     

Prenatal diagnosis of a 45,X male with a SRY-bearing chromosome 21

Male phenotype associated with a 45,X karyotype is an infrequent finding. We present a case diagnosed prenatally on amniocentesis performed for maternal age. The male phenotype was associated with a translocation of a distal part of Yp including the pseudoautosomal SHOX gene and SRY gene on the short arm of a chromosome 21. By DNA analysis we could show that the X chromosome was of maternal origin and that the breakpoint was in interval 3 of the Y chromosome. Mechanisms and genetic counselling are discussed based on a review of published cases of 45,X and XX males. Copyright © 2002 John Wiley & Sons, Ltd.     

Dandy – Walker syndrome and corpus callosum agenesis in 5p deletion

5p deletion syndrome commonly known as cri du chat is well described in affected neonates with catlike cry and hypotonia. Karyotyping will usually show a deletion of the short arm of one chromosome 5 with variable breakpoints. Only a few cases have been reported prenatally, and the fetal form of the syndrome has not been clearly individualised. We report a new case of 5p deletion syndrome diagnosed prenatally in association with Dandy–Walker syndrome and agenesis of the corpus callosum. Other brain anomalies have been reported previously, but this unusual association suggests the use of a specific probe in the investigation of these malformations. Copyright © 2005 John Wiley & Sons, Ltd.     

Development of a practical forest ecosystem classification from existing biophysical studies: An approach used in northwestern Quebec

While forest ecosystem classification work in Quebec has traditionally concentrated on inventory and mapping, more effort is now being placed on developing field guides similar to those produced in other Canadian provinces. As part of a project to produce a practical forest ecosystem field guide for the Amos Lowlands Ecological Region in northwestern Quebec, existing sub-regional ecological studies were exploited in order to develop a regional classification of forest ecosystems, or forest stations. Review of four fundamental studies provided a list of 107 ecological phases, each representing a particular combination of forest composition, surface deposit type and moisture regime. A series of silvicultural and environmental interpretations were developed and values for each were attributed to the ecological phases. Cluster analysis was then performed to classify phases into 29 broader units. A large, regional biophysical database which became available later in the project provided a means of validating and effectively modifying the classification. The justifications for using the original approach are discussed.     

Meckel-Gruber syndrome: Prenatal diagnosis at 10 menstrual weeks using embryoscopy

A case of Meckel—Gruber syndrome was diagnosed by embryoscopy at 10 menstrual weeks, allowing for early termination of pregnancy. Post-mortem examination confirmed the presence of polydactyly and bilateral cystic lesions of the mesonephros and metanephros. Both the forming nephrons and the collecting ducts were involved in the formation of renal cysts.     

Prenatal diagnosis of chronic granulomatous disease (CGD) in four high risk male fetuses

Prenatal diagnosis of chronic granulomatous disease (CGD) was performed in four male high risk fetuses. The male sex was previously determined by an amniotic cell karyotype. Three kinds of test were performed on fetal blood obtained by umbilical venous puncture under fetoscopy at the 20th gestational week: nitroblue tetrazolium reduction (NBT) cytochemical test with phorbol myristate acetate (PMA) as activator; luminol enhanced chemiluminescence with activation by serum opsonized zymosan (STZ) or PMA; superoxide anion (0) production by measurement of the superoxide dismutase inhibitable reduction of cytochrome c with PMA as activator. Results were compared to those obtained in six fetuses investigated for other inherited diseases. In one case, absence of granulocyte defects was confirmed at birth. In three other cases, the tests showed deficient metabolic oxidative granulocytes. The pregnancy was terminated and the CGD diagnosis was confirmed on the products of abortion. The use of three different techniques performed on whole blood for CGD prenatal diagnosis is recommended instead of a single isolated test to ensure a higher confidence in the diagnosis.     

Removal efficiency of emerging micropollutants in biofilter wastewater treatment plants in tropical areas

Environmental Science and Pollution Research - We studied the removal of 61 emerging micropollutants, including illicit drugs, in a biofilter wastewater treatment plant located in the French Indies...     

Afforestation opportunities when stand productivity is driven by a high risk of natural disturbance: a review of the open lichen woodland in the eastern boreal forest of Canada

Afforestation has the potential to offset the increased emission of atmospheric carbon dioxide and has therefore been proposed as a strategy to mitigate climate change. Here we review the opportunities for carbon (C) offsets through open lichen woodland afforestation in the boreal forest of eastern Canada as a case study, while considering the reversal risks (low productivity, fires, insect outbreaks, changes in land use and the effects of future climate on growth potential as well as on the disturbances regime). Our results suggest that : (1) relatively low growth rate may act as a limiting factor in afforestation projects in which the time available to increase C is driven by natural disturbances; (2) with ongoing climate change, a global increase in natural disturbance rates, mainly fire and spruce budworm outbreaks, may offset any increases in net primary production at the landscape level; (3) the reduction of the albedo versus increase in biomass may negatively affect the net climate forcing; (4) the impermanence of C stock linked to the reversal risks makes this scenario not necessarily cost attractive. More research, notably on the link between fire risk and site productivity, is needed before afforestation can be incorporated into forest management planning to assist climate change mitigation efforts. Therefore, we suggest that conceivable mitigation strategies in the boreal forest will likely have to be directed activities that can reduce emissions and can increase C sinks while minimizing the reversal impacts. Implementation of policies to reduce Greenhouse Gases (GHG) in the boreal forest should consider the biophysical interactions, the different spatial and temporal scales of their benefits, the costs (investment and benefits) and how all these factors are influenced by the site history.