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PubMed1987

Krabbe's disease: first trimester diagnosis confirmed on cultured amniotic fluid cells and fetal tissues.

Chorionic villi obtained during the first trimester from a pregnancy at risk for Krabbe's disease were shown to have reduced cerebroside-beta-galactosidase (E.C.3.2.1.46) activity using the artificial substrate trinitrophenylaminolauryl galactocerebroside (TNPAL-galactocerebroside). Assay of this enzyme in cultured amniotic fluid cells following amniocentesis, performed at the patient's request confirmed the diagnosis. Termination of pregnancy was performed and subsequent enzyme studies of the fetal tissues were consistent with the diagnosis of Krabbe's disease, thus confirming that chorionic villi can be used for first trimester diagnosis of this condition.

Amniocentesis↗

PubMed1989

[Chorionic villus sampling (CVS): level of activity and methods to resolve certain difficulties in interpretation].

As of December 1, 1988, we had, as part of our prenatal diagnostic service, studied 458 transcervical chorionic villus biopsies. Three-fourths of these samples were taken because of advanced maternal age (greater than or equal to 35 years), whereas nearly one fifth were done to alleviate parental anxiety. The remainder were performed because of a precedent chromosomal anomaly in child or parent, to determine fetal sex in the case of X-linked familial disorders, or to obtain DNA for molecular analyses. Among the cytogenetic anomalies detected after 24 to 48 hours of culture, eight involved classical trisomies. In four other instances the chromosomal abnormalities were more difficult to interpret (mosaic trisomies 10, 13 and 15, an apparently uniform trisomy 7). All four were revealed to be "false positives", since neither the amniocenteses nor the karyotypes of the normal newborns (one pregnancy is still ongoing) confirmed an abnormal karyotype. In the case of the trisomy 7 we were able, after birth of the baby, to study two placental biopsies, one of which revealed an abnormality distinct from that detected in the chorionic villi. The observations concerning a fifth false positive are more worrisome, as an apparently uniform trisomy 18, with a fetus showing growth retardation on ultrasound, could not be confirmed in the abortus. Otherwise, we have not encountered a false negative result. In this article we discuss the mechanisms potentially responsible for the cytogenetic discrepancies sometimes observed between fetal and placental tissues. Molecular analyses may help to establish whether a chromosomal anomaly present in fetal chorionic villi had its origin in the pre- or post-zygotic stage; in the latter case the aneuploidy may be uniquely extrafetal.

Chorionic Villi Sampling↗

PubMed1998

Systemic infantile complex I deficiency with fatal outcome in two brothers.

A male infant presented at 5 months of age with vomiting, developmental stagnation and convulsions. Complex I activity was in skeletal muscle 0.025 mU/mU CS (N 0.044-0.265) and in fibroblasts 0.046 mU/mU CS (N 0.100-0.307). Despite riboflavine supplementation progressive neurological deterioration occurred and he died at 14 months of age. During the mother's following pregnancy complex I activity was measured in chorionic villi and found mildly reduced, pregnancy was continued. A male infant was born who presented at 7 months of age with vomiting, developmental stagnation and hypotonia. Complex I activity was in skeletal muscle 0.031 mU/mU CS and in fibroblasts 0.100 mU/mU CS. There was progressive neurological deterioration and he died at 17 months of age. Complex I activity in autopsy liver of both patients was normal. Apparently, complex I deficiency presenting in infancy can have a fatal outcome despite only mild reduction of enzyme activity in skeletal muscle and/or fibroblasts, and chorionic villi and normal activity in liver.

Chorionic Villi↗

PubMed1993

Chorionic DNA analysis for the prenatal diagnosis of familial hypercholesterolaemia.

Prenatal diagnosis for familial hypercholesterolaemia (FH) was performed by using restriction fragment length polymorphisms (RFLPs) of the LDL receptor gene on chorionic villi DNA taken during the 10th week of pregnancy. Both parents were FH heterozygotes and had previously had a healthy son and an FH homozygous son. Two RFLPs were informative in this family and revealed that the fetus was unaffected by FH. At birth the child was found to have an LDL cholesterol level of 30 mg/dl and a normal LDL receptor activity in cultured umbilical cord fibroblasts. RFLP analysis on chorionic villi DNA is highly recommended for all heterozygous FH couples in whom the LDL receptor gene mutation/s is/are still to be characterized.

Cells, Cultured↗

PubMed2001

Complete karyotype discrepancy between placental and fetal cells in a case of ring chromosome 18.

A case of complete karyotype discrepancy between cultured chorionic villi and amniotic in addition to fetal cells is reported. Ring chromosome 18 and monosomy 18 mosaicism was detected after amniocentesis. The pregnancy was terminated in the 23rd gestational week. Cytogenetic analysis of cultured umbilical cord tissue after termination confirmed the finding of ring chromosome 18/monosomy 18 mosaicism. In cultured umbilical blood lymphocytes monosomic cells 45,-18 were not detected and the karyotype was 46,XY,r(18). In contrast, short-term and long-term cultured chorionic villi showed a normal male karyotype of 46,XY. Ultrasonographic examination revealed amniotic band syndrome and scoliosis in the caudal region of the spine.

Abortion, Induced↗

PubMed1998

Beta-glucuronidase deficiency as cause of recurrent hydrops fetalis: the first early prenatal diagnosis by chorionic villus sampling.

We describe a patient with recurrent non-immune hydrops fetalis diagnosed as mucopolysaccharidosis type VII. This rare autosomal recessive disorder is caused by a beta-glucuronidase deficiency. Chorionic villus sampling was performed in the 11th week of the subsequent pregnancy and beta-glucuronidase deficiency in chorionic villi indicated that the fetus was affected. After termination in the 12th week, signs of early hydrops fetalis were observed.

Adult↗

PubMedDate not supplied

Expression of syndecan-1 in human placenta and decidua.

Syndecan-1 is a cell surface heparan sulphate proteoglycan, which binds to the extracellular matrix (ECM), growth factors and antithrombin III. The early expression of syndecan-1 during mouse embryonic development suggests a potential role in the communication between the embryo and the ECM of decidua. Using immunohistochemical methods, the present study showed that the expression of syndecan-1 in the trophoblast cells changes along trophoblast differentiation. The syncytiotrophoblasts in the chorionic villi exhibited an apical expression of syndecan-1. This suggests that the expression is restricted to non-migrating, non-proliferating trophoblasts. The mode of syndecan-1 expression by human placental trophoblasts is independent of gestational age. The expression is not changed in miscarriages. In pre-eclampsia, the staining for syndecan-1 on the villous syncytiotrophoblast is weaker compared to normal pregnancy, but in placental bed the expression is similar. The unique apical localization of syndecan-1 in chorionic villi, not detected in any other tissues, suggests a potential role in fetomaternal communication probably via growth factor binding and in anticoagulation of intervillous circulation.

Adult↗

PubMedDate not supplied

Distribution of CA 125 in placental tissues.

The presence of the tumor marker CA 125 was studied in different compartments of the human placenta. Levels of CA 125 in the cytosol of chorionic villi ranged from 27-17100 U/g (median 560 U/g). In the placental amnion and chorion concentrations ranged from 175-29000 U/g, median 1060 U/g and were not statistically different. In the umbilical cord values were significantly lower (range 44-7600 U/g; median 180 U/g). Maternal serum probes were above the upper limit of normal in all cases (range 48-500 U/ml; median 131 U/ml). Immunohistochemistry detected CA 125 exclusively within the amniotic cells of the placenta and the umbilical cord. This might be because CA 125 fixes more to insoluble structures in the amnion or because of contamination of chorionic villi with the underlying decidua.

Antigens, Tumor-Associated, Carbohydrate↗

PubMed1996

Prenatal diagnosis by enzyme analysis in 15 pregnancies at risk for the Lesch-Nyhan syndrome.

Fifteen pregnancies at risk for Lesch-Nyhan syndrome were investigated between 8 and 17 weeks' gestation by measurement of hypoxanthine-guanine phosphoribosyl transferase (HGPRT) and adenine phosphoribosyl transferase (APRT) enzyme activities in chorionic villus samples (cultured and uncultured) or in cultured amniotic fluid cells. Ten pregnancies had normal enzyme levels and a normal outcome while a further two predicted to be normal miscarried later in the pregnancy. Three pregnancies had low levels of residual HGPRT activity in chorionic villi. Comparable levels of residual activity in the index case in two pregnancies and in cells from the abortus in the third case confirmed that the pregnancies were affected.

Adenine Phosphoribosyltransferase↗

PubMed2000

Fetoplacental chromosomal discrepancy.

Chorionic villus sampling is now an acceptable alternative to second trimester amniocentesis. Several reports have raised concerns about the occurrence of discrepancies between the chorionic villi and fetal chromosomal constitution, which adds multiple diagnostic complexities to the process of prenatal genetic counselling. We report on a series of 26 cases in which fetoplacental discrepancies have occurred. The chromosomal aberration was exclusively confined to the placenta in 21 cases. Twice the identical aberration was also observed in amniotic fluid with variant range of aneuploidy. The chromosomal abnormality was found in amniotic fluid and fetal blood samples in two cases, and was absent in chorionic villi. One case had very unusual cytogenetic findings as two different non-mosaic chromosomal abnormalities were identified separately in the placenta and amniocytes. Among the 21 gestations with confined placental abnormal karyotype, three cases of intrauterine growth retardation were identified. Of six cases evaluated for uniparental disomy, four demonstrated biparental inheritance. These findings support a positive correlation between placental aneuploidy and abnormal fetal development. They also emphasize the importance of further DNA analysis whenever discrepant karyotype findings between the placenta and amniocytes are identified.

Amniotic Fluid↗

PubMed1988

Extra embryonic/fetal karyotypic discordance during diagnostic chorionic villus sampling.

From a total of 1312 diagnostic chorionic villus samplings (CVS) there were 22 which showed discordance between the karyotype of the chorionic villi and that of the fetus. This frequency was some 20-fold higher than that reported at amniocentesis. In the majority of discordant cases, the fetal karyotype was normal while the placental karyotype was mosaic. In four cases, the placental karyotype was non-mosaic (a trisomy 16, a monosomy X, and two tetraploids) while the fetal karyotype was normal. In one case, the placenta was trisomy 18 while the fetus was mosaic. There were two 'false-negative' results where short-term methods showed only normal cells while both long-term cultures of chorionic villi and fetal cells were mosaic, in one 46,XY/47,XXY and in the other 46,XY/47,XY,+21.

Biopsy, Needle↗

PubMed1990

Transabdominal chorionic villus sampling in a multiple pregnancy at risk of argininosuccinic aciduria: a case report.

We report on a 32-year-old G3P2 woman at increased risk of argininosuccinic aciduria in her offspring. In her first infant, the disease was diagnosed at age 3 months. In the second pregnancy, the disorder was excluded following incorporation of radio-labeled 14C-citrulline in intact chorionic villi obtained through transcervical chorionic villus sampling at 10 weeks gestation. Twins were diagnosed in the third pregnancy. Separate transabdominal chorionic villus sampling of both fetuses was carried out at 10 weeks gestation. Chromosome analysis demonstrated a normal male and female karyotype. Incorporation of radio-labeled 14C-citrulline in intact villi was deficient in both villus samples, establishing the diagnosis of argininosuccinic aciduria in both fetuses. The present results confirm the reliability of direct analysis of villi for the diagnosis of argininosuccinic aciduria.

Adult↗

PubMedDate not supplied

Telomerase activity and apoptosis as indicators of ageing in placenta with and without intrauterine growth retardation.

Telomerase activity (TA) and apoptosis were analysed in placenta with and without intrauterine growth retardation (IUGR). Thirty-one specimens were taken from chorionic villi in the first trimester (Group A), 32 placenta specimens were obtained from cases without IUGR in second and third trimester (Group B) and 12 specimens of placenta tissue were obtained from cases of asymmetric IUGR between 26 and 39 weeks of gestation (Group C). TA was analysed by the Telomeric Repeat Amplification Protocol (TRAP) and in situ TRAP assay. Apoptotic changes were assessed by immunohistochemical staining using Bcl-2 monoclonal antibody and by terminal transferase-mediated in situ end-labelling (TUNEL). TA was detected in 29 of the 31 (93.5 per cent) chorionic villi (Group A) and in 20 of the 32 (62.5 per cent) placenta without IUGR (Group B), whereas weak TA was observed in the placenta of all 12 asymmetric IUGR cases (Group C). Significantly higher Bcl-2 immunoreactivity was observed in trophoblastic cells of Group A (85.9+/-4.2 per cent) and Group B (72.8+/-7.2 per cent) than Group C (54.84+/-4.83 per cent), while TUNEL positive cells were identified at a significantly higher frequency in the trophoblastic cells of Group C (9.7+/-7.4 per cent) than Group A (1.1+/-1.9 per cent) or Group B (2.9+/-3.7 per cent).

Adult↗

PubMed2004

Genetic approach to prenatal diagnosis in urea cycle defects.

OBJECTIVE: To demonstrate the feasibility of prenatal diagnosis by molecular genetics in all urea cycle defects in order to improve and standardize the current approaches. METHODS: Deceased index patients who had suffered from a urea cycle disorder were investigated for mutations of the biochemically most likely affected gene. If no material of index patients was available, parental DNA was studied for obligate carrier status. Fetal cells of 15 pregnancies, either chorionic villi or amniotic fluid cells, were used for direct sequence analysis of the respective mutations. Thirteen families were investigated, of which two were affected by N-acetylglutamate synthase deficiency, four by carbamoylphosphate synthetase 1 deficiency, one by ornithine transcarbamylase deficiency, three by argininosuccinate synthetase deficiency, two by argininosuccinate lyase deficiency, and one by arginase deficiency. RESULTS: Molecular genetics allowed the determination of the fetal status in all cases. Besides 14 known mutations, we detected the novel mutation c.544delC of the N-acetylglutamate synthase gene, the novel missense mutation c.721G>A (E241K) of the argininosuccinate lyase gene, and the novel double mutated allele comprising the known mutation c.703G>A (G235R) and the novel insertion c.712ins[GGACC](2) (254X) of the arginase 1 gene. CONCLUSION: Direct genetic analysis of chorionic villi or amniotic fluid cells is feasible, fast, and specific, and can be regarded as the method of choice for prenatal diagnosis in urea cycle disorders.

Acetyltransferases↗

PubMed1998

11Beta-hydroxysteroid dehydrogenase expression in first trimester human trophoblasts.

This study evaluated the levels and the enzymatic characteristics of 11beta-hydroxysteroid dehydrogenase activity (11beta-HSD) of chorionic villi isolated from first trimester human placenta. The results demonstrated a predominant expression of the NAD-dependent dehydrogenase isoform (11beta-HSD2) over the NADP-dependent oxoreductase (11beta-HSD1). Thus, in tissue homogenates exogenous NAD increased the conversion of corticosterone to 11-dehydrocorticosterone of about 14-fold while NADP was ineffective. There was no conversion of 11-dehydrocorticosterone to corticosterone either with NADH or NADPH demonstrating the lack of reductase activity. In keeping with these results, RT-PCR analysis indicated a mRNA for 11beta-HSD2 in villous tissue while 11beta-HSD1 mRNA levels were undetectable. In addition, immunohistochemical staining localized the 11beta-HSD2 protein to syncytiotrophoblasts and cell columns of the chorionic villi. These results suggest roles for the trophoblast-associated 11beta-HSD2 oxidative activity in modulating the exposure of the embryo to active glucocorticoids in the early gestation and in regulating trophoblasts invasion of the uterine wall.

11-beta-Hydroxysteroid Dehydrogenases↗

PubMed1996

DNA methylation patterns in human tissues of uniparental origin using a zinc-finger gene (ZNF127) from the Angelman/Prader-Willi region.

In order to further our understanding of the epigenetic modifications of DNA and its role in imprinting, we examined DNA methylation patterns of human tissues of uniparental origin. We used complete hydatidiform moles (CHM), which are totally androgenetic conceptions, to examine the paternal methylation pattern in the absence of a maternal contribution and we used ovarian teratomas to represent the maternal counterpart. We carried out an analysis of DNA methylation of a gene which has been shown to contain sites which are differentially methylated in a parent-specific fashion. The gene, ZNF127, is located on chromosome 15q11-q13 in the region associated with Prader-Willi and Angelman syndromes. The parent-of-origin DNA methylation has been postulated to reflect the presence of an imprint and recent studies have confirmed that ZNF127 is differentially expressed only from the paternal chromosome. We identified a unique pattern of hyper- and hypomethylated sites in androgenetic conceptions which was nearly identical to the paternal pattern found in sperm. This may represent the paternal germ-line methylation imprint. We also studied partial hydatidiform moles, non-molar triploid conceptions, normal chorionic villi, and somatic tissue. These all demonstrated a modified DNA methylation pattern characteristic of normal chorionic villi with only limited findings of the imprint. Our results suggest that human androgenetic conceptions may provide an excellent model to analyze epigenetic DNA modifications, such as methylation, in imprinted genes. The paternal allele-specific methylation imprint will also be useful clinically to confirm the androgenetic nature of suspected molar conceptions in which parental blood samples may not be available.

Angelman Syndrome↗

PubMed1986

[Studies on the immunohistochemical localization of coagulation fibrinolysis factors in the placenta, especially of placental plasminogen activator (PPA)].

We succeeded for the first time in extracting and purifying a coagulation fibrinolysis factor in the placenta, that is, a placental plasminogen activator (PPA). Using the enzyme-labeled antibody technique (indirect method), we investigated the localization of PPA, fibrinogen (FBG) and fibronectin (FN) in the placenta. And we tried to elucidate the physiological significance of the above three. The F(ab')2 fragments of their antibodies were produced by pepsin digestion, because there were various Fc receptors in the placenta. The results are summarized as follows: PPA was produced in the trophoblast, and was secreted out of the microvilli. FBG was located in the plasma. But, in the placenta, it was not in the cells and the connective tissue of which chorionic villi was composed. FN was located in the ground substances of connective tissue in the chorionic villi, and was associated with the cell structure. Because PPA, FBG and FN showed the same distribution on the fibrinoid material, it is expected that coagulation fibrinolysis activity proceeds in that fibrinoid material.

Female↗

PubMed2002

Prenatal diagnosis of Crigler-Najjar syndrome type I by single-strand conformation polymorphism (SSCP).

Crigler-Najjar syndrome type I (CN-I) is a rare and severe inherited disorder of bilirubin metabolism, caused by the total deficiency of bilirubin-UDP-glucuronosyltransferase (UGT) activity. Enzymatic diagnosis cannot be performed in chorionic villi or amniocytes as UGT is not active in these tissues. The cloning of the UGT1 gene and the identification of disease-causing mutations have led to the possibility of performing DNA-based diagnosis. Here we report DNA-based prenatal diagnosis of CN-I in two Tunisian families in whom CN-I patients were diagnosed. As we had previously shown that CN-I was, in Tunisia, associated with homozygosity for the Q357R mutation within the UGT1 gene, we were able to detect this mutation in both families and to show that it was easily recognized by single-strand conformation polymorphism (SSCP) analysis. In both cases, SSCP analysis of fetal DNA showed that the fetus was heterozygous for the Q357R mutation. In one family, the pregnancy was carried to term and a healthy baby was born, whereas, in the other family, the pregnancy is still continuing. Thus the prenatal diagnosis of CN-I is possible, provided disease-causing mutations have been identified. SSCP analysis of DNA prepared either from amniocytes or from chorionic villi is a simple, reliable and fast method for prenatal diagnosis.

Chorionic Villi Sampling↗