Early prenatal diagnosis of congenital hypophosphatasia: Case report

Congenital hypophosphatasia is an autosomal recessive disorder, which usually has a fatal outcome during the neonatal period. This report presents the prenatal diagnosis of hypophosphatasia at 16 weeks of gestation. The characteristic ultrasonic findings in this abnormality demonstrate the superiority of ultrasound as compared with radiography.     

First trimester diagnosis of lesch-nyhan syndrome: Applications to other disorders of purine metabolism

The prenatal detection of hypoxanthine phosphoribosyltransferase (HPRT, EC 2.4.2.8) deficiency, the Lesch-Nyhan syndrome, during the first trimester of an affected pregnancy through the use of chorionic villus sampling is reported. Quantitation of reaction products formed by villus cell extracts from exogenous hypoxanthine-8-[¹⁴C] or adenine-8-[¹⁴C] is used in diagnosis. We report the diagnosis of Lesch-Nyhan syndrome using a chorionic villus specimen and confirmation of that diagnosis. In addition, adenosine deaminase (ADA) and purine nucleoside phosphorylase (PNP), enzymes deficient in inherited immune disorders, are detected in chorionic villus samples. These heritable disorders also appear amenable to early prenatal diagnosis.     

Prenatal diagnosis and fetal pathology of partial trisomy 20p–monosomy 4p resulting from paternal translocation

Amniocentesis was performed in view of a paternal balanced chromosomal rearrangement t(4;20)(p16;p12), inv(18)(p11q11). The pregnancy was complicated by severe oligohydramnios. The fetal karyotype was unbalanced: 46XX, der(4), t(4;20)(p16;p12), inv(18) (p11q11)pat., thus resulting in partial trisomy 2Op and monosomy 4p. In addition, the amniotic fluid alpha-fetoprotein (AFP) became increasingly elevated with gestational age. The pregnancy was terminated at 25 weeks. The fetus presented with typical facial dysmorphic features, unilateral cleft lip and palate, severe renal hypoplasia, consistent with the 4p- (Wolf-Hirschhorn) syndrome.     

Cystic hygroma: Prenatal diagnosis and genetic counselling

Six cases of cystic hygromas detected during second trimester ultrasound examination are reported: 4 fetuses (67 per cent) had a 45, X karyotype, 1 fetus had trisomy 18, 1 fetus had a normal karyotype (46,XX) and at autopsy multiple anomalies were observed. In the latter case the family history suggested an autosomal recessive pattern of inheritance. In order to reach a definite diagnosis and give proper genetic counselling when a fetus is found to have cystic hygroma, a fetal karyotype as well as a family and reproductive history should be obtained.     

The fetal behavioural states: An ultrasonic study

In order to accurately detect the fetal behavioural state, we simultaneously measured fetal heart rate and multiple fetal activities in 27 healthy pregnant women at 38 to 40 weeks of gestation. We ultrasonically identified gross body movements, breathing movements and micturition. Analysis of fetal heart rate allowed us to distinguish two different patterns of fetal behaviour: active and quiet phases. The frequency distribution of the analysed fetal events was significantly different in these two phases. These data suggest that a complete biophysical profile of the fetus is effective in differentiating behavioural states and may improve the predictive accuracy of fetal heart rate analysis alone.     

Exclusion of citrullinaemia in the first trimester of pregnancy by direct assay of argininosuccinate synthetase in chorionic villi

Citrullinaemia was presumed to be excluded in a fetus at risk by the direct assay of argininosuccinate synthetase in chorionic villi. The diagnosis was confirmed after amniocentesis by normal argininosuccinate synthetase activity in the cultured amniotic fluid cells and by a normal citrulline concentration in the amniotic fluid. The prediction of a normal fetus was confirmed at term by the birth of a non-citrullinaemic boy.     

The cerebro-hepato-renal (Zellweger) syndrome: Prenatal detection based on impaired biosynthesis of plasmalogens

Prenatal diagnosis of the cerebro-hepato-renal (Zellweger) syndrome has been performed in 10 pregnancies at risk by measuring both the activity of acyl CoA: dihydroxyacetonephosphate acyltransferase (DHAP-AT) and the de novo plasmalogen biosynthesis, either in cultured amniotic fluid cells or in fibroblasts cultured from a chorionic villus biopsy. In 7 of the pregnancies both tests indicated no abnormality. All 7 continued to term and normal infants were delivered. However, in amniotic fluid cells from 2 fetuses affected by Zellweger syndrome unequivocal differences from control values were found. The activity of DHAP-AT was clearly deficient and the de novo plasmalogen biosynthesis was impaired. In one pregnancy at risk prenatal diagnosis was performed during the first trimester by measuring both the DHAP-AT activity and the de novo plasmalogen biosynthesis in fibroblasts cultured from a chorionic villi biopsy. From the deficient DHAP-AT activity and the impaired de novo plasmalogen biosynthesis it was concluded that the fetus was affected. This was confirmed biochemically after induced abortion. It can be concluded that measurement of the DHAP-AT activity and the de novo plasmalogen biosynthesis provides convenient methods for the early prenatal detection of Zellweger syndrome.     

Prenatal diagnosis of omphalocele and gastroschisis by ultrasonography

As the use of ultrasonography has become a routine procedure in the care of pregnant women, fetal congenital malformations have been frequently diagnosed prenatally. During a 4-year period abdominal wall defects (AWD) were diagnosed in 14 cases, five were gastroschises and nine were omphaloceles, seven females and seven males. Concomitant malformations were present in one case of gastroschisis and in five cases of omphalocele. Eleven AWD's were diagnosed in the second trimester and six pregnancies were interrupted. Eight children with AWD were born; two boys with omphalocele and one girl and one boy with gastroschisis are still alive. Alpha-fetoprotein was determined in amniotic fluid in 11 cases and also in maternal serum prior to the amniocentesis in eight cases. Chromosomal investigations were performed in 13 cases, 11 on amniotic fluid cells and two on lymphocytes from a blood sample made postnatally. Two abnormal karyotypes, 47,XX + 18 were found.     

Lost benefits and carbon uptake by protection of Indian plantations

There is a range of problems in assessing how protection of a specific forest to Reduce Emissions from Deforestation and forest Degradation (REDD+) affect global emissions of greenhouse gases. This paper shows how knowledge and information about the biophysical characteristics of forests can be combined with theories of forest management and economic behaviour to derive the impacts on global emissions of REDD+. A modelling experiment from India, where 10% of the forest plantations in eight different regions are protected, shows that the biophysical characteristics of forests are decisive for the global impacts on emissions. In regions with slow-growing forests, agents in the non-protected forests are able to increase their output significantly to fill the demand from the protected forests. This opportunity is strictly limited in regions with fast-growing forests. Therefore, prices increase far more in regions with fast-growing forests than in slow-growing forests. Over time, the markets for Indian forestry products contribute to reduce the resulting price differences across regions. When the carbon uptake from protected forests approaches zero, the leakage of emissions to other Indian forests is between 20 and 40%. Only a small part of this is international leakage. Combining different models also helps to identify knowledge gaps, and to distinguish gaps that potentially may be filled with data and new knowledge, and gaps due to different angling of modelling biophysical processes and modelling of economic behaviour.