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PubMed1996

Molecular prenatal diagnosis of glycogen storage disease type Ia.

Glycogen storage disease type Ia (GSD Ia, von Gierke disease) is an autosomal recessive inborn error of metabolism caused by the deficiency of D-glucose-6-phosphatase (G6Pase). Since this enzyme is expressed primarily in hepatocytes, couples at risk for GSD type Ia relied on fetal liver biopsy for prenatal diagnosis. The recent isolation of the G6Pase gene and identification of several disease-causing mutations have permitted molecular prenatal diagnosis using amniocytes or chorionic villi. Chorionic villus sampling (CVS) was performed in an Ashkenazi Jewish family in whom a previous child was homoallelic and both parents were heterozygous for the R83C mutation. Molecular analysis revealed that the fetus was not affected. The prenatal diagnosis was confirmed postnatally by biochemical and molecular studies. Thus, the molecular prenatal diagnosis of GSD type Ia can be safely and accurately made in the first trimester.

Base Sequence↗
PubMed1988

[A study of various properties of beta-galactocerebrosidase from human chorion using synthetic fluorescent substrates].

The properties of beta-galactocerebrosidase from human chorionic villi, cultured chorionic villi and cultured skin fibroblasts were compared, using 6-hexadecanoylamino-4-methylumbelliferyl-beta-D-galactopyranoside (HMGaL) as substrate. The effects of bile salt and Triton X-100 on beta-galactocerebrosidase were examined. It was shown that optimization of the HMGaL assay system requires the presence of pure sodium taurocholate and Triton X-100 at concentrations of 4.5 mM and 0.28 mM, respectively. The optimal pH value was found to be equal to 4.5-5.0; Km for the substrate was 0.03 mM. A comparison of beta-galactocerebrosidase from chorionic villi and cultured chorionic villi with the enzyme from skin fibroblasts revealed the similarity of some properties of these enzymes. The experimental results suggest that HMGaL can be used as a substrate for the identification of chorionic villi beta-galactocerebrosidase in an early prenatal diagnosis of Krabbe's disease.

Cells, Cultured↗
PubMed1998

[Localization and quantitative analysis of insulin-like growth factor-I in placenta of extreme fetus].

OBJECTIVE: To investigate the immunohistochemical localization of insulin-like growth factor-I (IGF-I) in human placenta and to evaluate the role of IGF-I in fetal growth and placental growth. METHODS: In 72 tested samples, The cellular distribution of IGF-I in human placenta was determined by using immunohistochemistry. The relative area and mean absorbance were determined by using image analysis technique. Student's t-test was used to compare mean values between groups. RESULTS: IGF-I immunostaining was found in syncytiotrophoblast, cytotrophoblast and Hoffbauer's cells of chorionic villi and chorion of fetal membranes. The strongest immunoreactivity was observed in the syncytiotrophoblast and cytotrophoblast. The relative area and absorbance in placenta of SGA group were significantly lower than those of AGA group respectively (t = 4.65, P < 0.001; t = 2.15, P < 0.05). But the relative arca and absorbance of LGA were significantly higher than those of AGA (t = 8.72, P < 0.001; t = 7.82, P < 0.001). CONCLUSION: These results suggested that IGF-I in human placenta was principally synthsized and secreted by syncytiotrophoblast, cytotrophoblast, hoffbauer's cells of chorionic villi and chorion of fetal membranes. IGF-I is an improtant regulator of fetal and placental growth and development. It has the key role for macrosomia and IUGR forming.

Adult↗
PubMed1992

Mevalonate kinase assay using DEAE-cellulose column chromatography for first-trimester prenatal diagnosis and complementation analysis in mevalonic aciduria.

Mevalonic aciduria due to mevalonate kinase deficiency, an inherited defect of cholesterol biosynthesis, has presented with clinical variability in 10 patients from 7 families. We sought to define a genetic basis for this heterogeneity by determining mevalonate kinase activity in fibroblast heterokaryons obtained by polyethylene glycol fusion. To this end we developed a DEAE-cellulose (Cl-) column chromatography procedure for assessing mevalonate kinase in cell extracts that would allow multiple rapid analyses. Fusion of control fibroblasts with those from affected patients from six families with mevalonate kinase deficiency yielded 37% of the mean control activity. None of the fusions between the six cell lines of patients resulted in measurable mevalonate kinase activity. Using the chromatographic procedure, we developed an optimized assay for mevalonate kinase in biopsied chorionic villi. Km values for chorionic villi were similar to those obtained in fibroblasts. Mevalonate kinase activity in biopsied chorionic villi showed a linear increase (0.75-4.3 nmol/min per mg protein) with gestational age from 7 to 14 weeks. Using the optimized assay in biopsied chorionic villi we performed a first-trimester prenatal diagnosis in a pregnancy at risk for mevalonate kinase deficiency and correctly diagnosed an unaffected fetus. The availability of an optimized assay for mevalonate kinase in biopsied chorionic villi should allow reliable first-trimester prenatal diagnosis for families at risk.

Chorionic Villi↗
PubMed1994

Morphological studies on the placenta.

Morphological studies were done on 109 placentae of 6 to 43 gestational weeks. Soft x-ray figures are useful for detecting the development of the placenta, which is closely correlated to enlargement of cotyledon and vascular growth in the chorionic villi. At histological figures, chorionic villi, corresponding to intermediate mature villi at the early gestational weeks, reveal large size with edematous stroma and prominent interstitial cells. Their size becomes smaller with aging, with decreased interstitial cells and stroma. At the early gestational period until 23 weeks, chorionic villi are lined by two cell layers of S-(syncytial) and C-(cytotrophoblastic) cells. After 24 gestational weeks C-inner lining decreases in number. Syncytial knots become marked after 32 weeks. As aging, the intervillous space becomes narrow and is occupied by the small sized terminal and mature chorionic villi with congestive capillaries. Syncytial knots and fibrin deposit around chorionic villi are increased with placental aging. By the immunohistoenzymatical examination, S-lining is positive by hCG (human Chorionic Gonadotropin) at the early gestation, but is markedly positive by hPL(human Placental Lactogen) and SP-1 (Specific Protein 1) lately.

Chorionic Villi↗
PubMed2001

Pre- and postnatal diagnosis of patients with CLN1 and CLN2 by assay of palmitoyl-protein thioesterase and tripeptidyl-peptidase I activities.

Palmitoyl-protein thioesterase (PPT) and tripeptidyl-peptidase I (TPP-I) activities were measured in leucocytes and fibroblasts. Fourteen patients were confirmed as having late infantile neuronal ceroid lipofuscinosis due to a deficiency of TPP-I activity. This included one patient with a milder and more protracted form of the disease. In addition this enzyme deficiency was found in a clinically normal younger sibling of a patient. Of particular importance was the finding of normal TPP-I activity in two patients who had been diagnosed as having classical late infantile neuronal ceroid lipofuscinosis. A deficiency of PPT was confirmed retrospectively in stored fibroblasts from two patients who had already died having been diagnosed with infantile neuronal ceroid lipofuscinosis. Palmitoyl-protein thioesterase or TPP-I activities were measured in chorionic villi and cultured chorionic villi cells in three pregnancies. The enzyme results were confirmed by mutational analysis if the mutations were known, or, in the case of the pregnancy at risk for infantile neuronal ceroid lipofuscinosis by electron microscopy of the chorionic villi. Our results show that assay of PPT and TPP-I is reliable in the diagnosis of patients with mutations in the CLN1 and CLN2 genes. It is imperative to assay these enzymes in all patients to confirm the diagnosis and ensure accurate genetic counselling of other family members. Once an enzyme deficiency has been confirmed reliable prenatal diagnosis is available even if both mutations have not been detected.

Adult↗
PubMed1993

Prenatal quantitation of number of X-chromosomes by slot blot hybridization and autoradiography.

OBJECTIVE: To study the use of slot blot hybridization as a method of prenatal quantification of the number of X-chromosomes in chorionic villi samples. METHOD: DNA of chorionic villi from fetuses with karyotypes of 46,XY; 45,XO; 47,XXX; 69,XXX and 48,XXXX were extracted, slot blotted and hybridized to the following radioactive probes: beta 0.9, FVIII, pY3.4 and pBLUR. DNA of chorionic villi from five other fetuses with unknown karyotypes were similarly blotted and hybridized. Autoradiography with pre-exposed films was carried out and the density of each of the hybridized bands was scanned by a laser densitometer. RESULTS: It was found that with increasing amounts of DNA in the samples, the intensity of the bands hybridized with FVIII and beta 0.9 probes increased proportionately. However, the intensity of the bands obtained with the probes pY3.4 and pBLUR (probes containing multiple repeat sequences) varied little with increasing DNA concentrations. The ratios of radioactivity obtained for the two probes FVIII/beta 0.9, were well correlated with the number of X-chromosomes in the samples. Calculations of the FVIII/beta 0.9 ratio for the five samples with the unknown karyotypes gave a correct prediction of the number of X-chromosomes in each case. CONCLUSION: Slot blot hybridization can be used as a method of prenatal quantitation of the number of X-chromosomes in chorionic villi samples. The method could be useful for rapid prenatal diagnosis of other numerical chromosomal abnormalities.

Adult↗
PubMed1995

Prenatal diagnosis of galactosemia.

The experience from three different European centres with the prenatal diagnosis of galactose-1-phosphate-uridyltransferase (GALT) deficiency is presented and the question whether or not there is a need for prenatal diagnosis of this disorder is discussed. Most prenatal diagnoses (n = 50) have been performed by assay of GALT activity in cultured amniotic fluid cells. The assay used is reliable and clearly distinguishes homozygous affected fetuses (n = 11; 0%-2.3% of mean control enzyme activity) from non-(homozygous)-affected fetuses. The GALT assay for cultured amniocytes was adapted to assay the enzyme directly in chorionic villi. The experience with chorionic villi comprises 23 cases with 5 affected fetuses (0%-4.2% of mean control enzyme activity). In 36 cases galactitol was determined in amniotic fluid supernatant by gas chromatography-mass spectrometry. This method also differentiated affected (n = 11; galactitol 5.9-10.6 mumol/l) and unaffected pregnancies (galactitol 0.23-1.6 mumol/l) clearly and has the advantage of providing a result within a day or two after amniocentesis. Prenatal diagnosis of galactosemia is undertaken rarely and sometimes for the wrong reasons, but it should perhaps be considered more seriously until better methods of treatment are established.

Amniocentesis↗
PubMedDate not supplied

Cytokeratin immunohistochemistry: a procedure for exclusion of pregnancy in chorionic villi-negative specimen.

The confirmation or exclusion of the presence of products of conception (POC) in biological material may be crucial. This analysis has been undertaken to check how efficient the H&E examination of the putative POC specimen is in practice and to prove the hypothesis that the use of cytokeratin immunostaining can increase the diagnostic accuracy. Of 1078 POC specimens, 94 cases which were signed out as 'No chorionic villi identified' or 'Negative for POC' and in which all submitted material was histologically examined, were re-reviewed histologically and examined immunohistologically using the low molecular weight cytokeratin antibody CAM5.2. In six cases, the originally missed trophoblastic cells were found on re-review of the H&E slides, which was confirmed by CAM5.2 immunostaining. Of seven further cases which were suspicious for trophoblastic cells on re-review, three cases were positive for trophoblastic cells by CAM5.2 and four were negative. Of the remaining 81 cases negative for trophoblastic cells on H&E re-review, CAM5.2 was positive for the trophoblast in 13 (16 per cent). There were no false positive cases on CAM5.2 immunostaining of the endometrial curettings in 22 ectopic pregnancies and 22 cases with dysfunctional endometrial bleeding clinically and secretory endometrium histologically. Therefore, although the overall efficiency of the original diagnosis could have been as high as 98 per cent (1029 of 1051), the false negative rate was 23 per cent (22 of 94) in the chorionic villi-negative material. Even though the morphology of trophoblastic cells on conventional H&E staining is well known, it may be practically difficult to exclude pregnancy by the examination of uterine contents using conventional H&E staining only. The use of the cytokeratin immunostaining can decrease the rate significantly and should be considered in all chorionic villi-negative specimens without obvious extravillous trophoblasts.

Adult↗