Absence of Maternal Contamination of Chorionic Villi Used for Fetal-Gene Analysis

Elles, Rob; Williamson, Robert; Niazi, Meena; Coleman, D. V.; Horwell, David

doi:10.1097/00006254-198403000-00003

Cited by 6 publications

(8 citation statements)

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“…The faint band seen with mutant sickle cell primer could be due to maternal contamination. Elles [38] reported that chances of ambiguous results in CVS are high because sometimes maternal cells are indistinguishable from fetal cells and may be included in cell analysis. Chorionic villi were meticulously separated from maternal deciduas under dissecting microscope but no other method was used to rule out maternal contamination.…”

Section: Fetus Genotypementioning

confidence: 99%

“…As maternal contamination is major cause of diagnostic error, it is a prerequisite to separate villi from maternal deciduas under inverted or dissecting microscope [38,39]. Very little amount of maternal DNA present in fetal sample can amplify with either of ARMS-PCR primer and forms a band visible on gel electrophoresis, resulting in misdiagnosis.…”

Section: Fetus Genotypementioning

confidence: 99%

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Prenatal Diagnosis of Sickle Cell Disease by the Technique of PCR

Singh

Shrivastava

Shrikhande

2014

Indian J Hematol Blood Transfus

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Sickle cell disease (SCD) is prevalent in Central India and causes major morbidity and mortality. There is a lack of prenatal diagnostic facility near population affected with SCD. This is the pilot study in our region with the aim to establish prenatal diagnostic facility for the couples carrying sickle cell gene in Central India, in order to help them take an informed decision regarding fetus affected with SCD and also to calculate sensitivity of polymerase chain reaction (PCR) technique in our set up with follow up high performance liquid chromatography (HPLC) of baby's blood sample. Fetal sampling was done by chorionic villous biopsy. Extracted DNA was subjected to amplification refractory mutation system (ARMS-PCR) to detect sickle cell mutation (GAG ? GTG) in the sixth codon of b globin gene. Follow-up HPLC was done to detect baby's Hb pattern. Prenatal diagnosis of sickle cell anemia was offered in total 37 cases out of which one (2.7 %) fetal sample was inadequate. Total 26 (70.27 %) fetuses had AS Hb genotype, 3 (8.11 %) had AA Hb genotype and 3 (8.11 %) had SS Hb genotype while remaining 4 (10.81 %) were given AA/AS Hb genotype. All couples with SS fetuses opted for MTP. Follow up HPLC was performed in 24 cases, out of which 18 (75 %) were correlated and 6 (25 %) were mismatched. In present study sensitivity of ARMS-PCR was 75 %. ARMS-PCR is a simple technique to be established initially for providing rapid prenatal diagnosis to the couples with known sickle cell mutation. The sensitivity of ARMS-PCR can be increased by using suitable techniques to detect maternal cell DNA contamination.

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Section: Fetus Genotypementioning

confidence: 99%

Section: Fetus Genotypementioning

confidence: 99%

Prenatal Diagnosis of Sickle Cell Disease by the Technique of PCR

Singh

Shrivastava

Shrikhande

2014

Indian J Hematol Blood Transfus

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“…The first one is the maternal contamination of chorionic villi samples that will lead to erroneous results. Histological and immunocytochemical procedures (Upadhayaya et al, 1984) and genetic analysis (Elles et al, 1983) showed that a rigorous selection of chorionic villi under microscopic examination is highly efficient in obtaining a pure fetal sample.…”

Section: Discussionmentioning

confidence: 99%

“…Assuming that chorionic tissue biopsy in the first trimester of pregnancy proves to be safe for the mother and the fetus, this technique will gain further interest also because chorionic villi are an adequate source of pure fetal DNA for prenatal diagnosis using recombinant DNA techniques (Williamson et al, 1981 ;Elles et al, 1983;Upadhyaya et al, 1984). The aim of our study was to investigate the activities of fifteen lysosomal enzymes in chorionic villi and to compare their values to those obtained in cultured amniotic fluid cells, in view of the possibility of utilizing the villus tissue for prenatal detection of the respective genetic deficiencies.…”

Section: Introductionmentioning

confidence: 99%

Comparative study of 15 lysosomal enzymes in chorionic villi and cultured amniotic fluid cells. Early prenatal diagnosis in seven pregnancies at risk for lysosomal storage diseases

et al. 1985

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A large number of chorionic villi samples obtained from women undergoing elective first trimester termination of pregnancy was analysed by enzyme assays similar to those applied to cultured amniotic cells. The levels of 15 lysosomal enzymes were compared to those observed in tissue cultures of amniotic cells obtained through amniocentesis at 16-18 weeks of pregnancy and the results were discussed in order to assess the usefulness of trophoblast biopsy for first trimester diagnosis of hereditary lysosomal diseases. The data suggest the applicability of this source of fetal cells for prenatal diagnosis of fifteen respective genetically determined enzyme deficiencies with the probable exception of alpha-L-iduronidase deficiency. Enzyme determinations were performed on chorionic villi samples of two pregnancies at risk for Tay-Sachs disease, three pregnancies for GM1 gangliosidosis type 1, one for mucopolysaccharidosis type VI and one for Wolman's disease.

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“…The villi are separated from the maternal decidua under the microscope. DNA analysis has demonstrated the absence of maternal con tamination of these chorionic villi [35]. The fetal tissues may be directly processed for chromosomal [36] or biochemical studies ture.…”

Section: Chorion Biopsymentioning

confidence: 99%

Prenatal Diagnosis of Inborn Errors of Metabolism

Vámos¹,

Liebaers²

1984

Enzyme

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The evolution of the techniques aiming at the prenatal diagnosis of inborn metabolic disorders has closely reflected the progress in the knowledge of their underlying molecular defects. Initially, abnormal metabolites have been looked for in amniotic fluid. Recently, improved techniques of detection have permitted fast and reliable prenatal diagnoses through biochemical studies of cell-free amniotic fluid. Presently, the most widely used approach is the search for the defective gene product in cultured amniotic cells obtained through amniocentesis. Because of its relative safety, this procedure should be recommended, provided three prerequisites are met: a most accurate diagnosis of the index patient, the knowledge of the defective enzyme and its expression in cultured cells. For a correct interpretation of the results, cell culture parameters as well as specific activities of the mutant enzyme in the index case and the parental cells must be taken into account. Fetal blood sampling is a valuable alternative for some of the genetic disorders that cannot be detected in cultured amniocytes. The recently developed technique of chorion biopsy enables now to sample fetal cells during the first trimester of gestation. Meanwhile, the progress in DNA technology has uncovered exciting perspectives for the prenatal diagnosis of monogenic disorders at the gene level. Restriction endonuclease mapping has enabled to diagnose prenatally some forms of haemoglobinopathies, first through the polymorphism of sequences adjacent to the ß-globin gene, and now for the sickle-cell disease, by direct identification of the mutation.

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Absence of Maternal Contamination of Chorionic Villi Used for Fetal-Gene Analysis

Cited by 6 publications

References 0 publications

Prenatal Diagnosis of Sickle Cell Disease by the Technique of PCR

Prenatal Diagnosis of Sickle Cell Disease by the Technique of PCR

Comparative study of 15 lysosomal enzymes in chorionic villi and cultured amniotic fluid cells. Early prenatal diagnosis in seven pregnancies at risk for lysosomal storage diseases

Prenatal Diagnosis of Inborn Errors of Metabolism

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