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Results for “Chorionic Villi Sampling”

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PubMed1995

DNA-based prenatal carrier detection for group A xeroderma pigmentosum in a chorionic villus sample.

DNA-based prenatal carrier detection of group A xeroderma pigmentosum (XP-A) is reported. Chorionic villus sampling was done at the tenth gestational week in a pregnant woman whose first child suffers from XP-A. Genomic DNAs from the villi, proband, and parents were PCR (polymerase chain reaction)-amplified using three sets of primers, because the PCR and a subsequent enzyme digestion with HphI, AlwNI, or MseI may detect the three most frequent mutations of the XP-A complementing gene (XPAC) in Japanese XP-A patients. The results showed that the proband is a homozygote and that the parents and fetus are heterozygotes for a base substitution at the 3' acceptor site of intron 3 of XPAC, indicating that the fetus is a healthy carrier of XP-A. This is the first case of prenatal carrier detection of the disorder.

Base Sequence↗
PubMed2005

Invasive diagnostic procedures in twin pregnancies.

The rising rate of multiple pregnancies and its association with advanced maternal age has expanded the need for prenatal diagnosis in twins and higher order gestations. The complexity of the invasive diagnostic procedures and the risk of loss of an unaffected twin raise significant clinical, technical and ethical issues. In this review we discuss the specific issues of early scanning, counseling and determination of chorionicity prior to invasive procedures in twins. We present the available data describing the risk associated with these procedures in twins and compare data of fetal loss rate from different studies. We also discuss the issues of fetal blood sampling and late karyotyping in twin pregnancies.

Amniocentesis↗
PubMed1989

Is there a correlation between morphological and cytogenetic findings in placental tissue from early missed abortions?

A retrospective study of 200 missed abortions was performed to determine whether morphological criteria alone are sufficient to ascertain a chromosomal aetiology. Placental changes were classified into five morphological and four morphometric groups, according to the severity of alterations, and were then correlated with the cytogenetic data. The rate of chromosome anomalies was approximately 50% and was thus not significantly different within the groups II-V, but it was 80% in group I, which covered the most severe placental alterations, namely the partial hydatidiform moles. There was a high incidence of triploidies in group I, trisomies with obligatory early lethality in groups II and III, and X-monosomies in group III. Our findings do not support previous evidence regarding the specificity of certain villous alterations in association with chromosome aberrations. Indeed, they indicate that the placental villi may react similarly to chromosomal and non-chromosomal disturbances and that placental morphology depends on the severity and the temporal onset of the underlying disorder rather than on its type. With respect to chorionic villus samplings (CVS), this would mean that an abnormal villous structure may be suggestive for a chromosome anomaly but does not exclude a normal karyotype.

Abortion, Missed↗
PubMed2004

Chorionic villus sampling (CVS) and fluorescence in situ hybridization (FISH) for a rapid first-trimester prenatal diagnosis.

OBJECTIVES: Early diagnosis of unbalanced chromosomal abnormalities can be crucial in minimizing the trauma caused by an elective abortion. Chorionic villus sampling (CVS) can be performed from 9 weeks of gestation. However, two major problems are encountered in fetal karyotyping using cultured cells from chorionic villi: the relatively slow growth of these cells in culture, which delays the diagnosis, and the occurrence of maternal cell contamination (MCC). With FISH, a result can be obtained within 24 h, and, as no cell culturing is involved, the problem of MCC is minimized. METHODS: Thirty-two women undergoing CVS between 9 and 12 weeks of gestation were offered FISH analysis in addition to the standard chromosome analysis. RESULTS: FISH was informative in all of the cases tested. Eleven aneuploidies were detected in cases of hygroma or abnormal nuchal translucency and two out of four fetuses from parental translocation were unbalanced. The decision to perform early termination of these chromosomally abnormal pregnancies was based on FISH results and ultrasound abnormalities, without waiting for karyotype results. CONCLUSION: The present study confirms that the association of FISH and CVS allows a rapid and early prenatal diagnosis, and emphasizes that this association is of great benefit in cases of known parental balanced translocation or when hygroma is detected by ultrasonography.

Aneuploidy↗
PubMed1997

Detection of adeno-associated virus type 2 sequences in the human genital tract.

Adeno-associated virus (AAV) is a defective parvovirus with unknown pathogenicity. It requires helper functions for its normal replication in human tissue and therefore is not readily isolated from clinical specimens. We have used the PCR method to examine the following clinical samples for the presence of AAV sequences: (i) 15 nasopharyngeal aspirates from symptomatic patients, (ii) 7 swab or fluid specimens from vesicles of patients suspected of having varicella-zoster virus infections, (iii) 21 human papilloma virus-positive genital biopsy specimens, (iv) 61 genital swab specimens from women suspected of having herpes simplex virus (HSV) infection examined either directly or following propagation in tissue culture, (v) 62 samples of first-trimester aborted material, including 38 samples from spontaneous abortions and 24 samples from induced abortions, (vi) 11 samples of chorionic villi taken from women undergoing genetic prenatal diagnosis, and (vii) three lots of cultured human embryonic cells. AAV sequences were detected only in samples taken from the genital tracts of women suspected of having HSV infection and not in any of the other types of samples. Samples from 11 patients were positive for AAV: for 4 patients the original swab sample was positive, for 4 patients the cultured swab sample was positive, and for 3 patients both the original swab samples and the cultures were positive. Five of the 11 patients were infected with HSV. Our study demonstrates the presence of AAV in the female genital tract. However, in contrast to a previous report (E. Tobiasch, M. Rabreau, K. Geletneky, S. Larue-Charlus, F. Severin, N. Becker, and J. R. Schlehofer, J. Med. Virol. 44:215-222, 1994), we did not find solid evidence of its replication in maternal or embryonal tissues from the first trimester of pregnancy. The questions of a potential pathogenic etiology of AAV and the interaction with HSV remain open.

DNA, Viral↗
PubMed1996

Diagnosis of fetal rubella infection with reverse transcription and nested polymerase chain reaction: a study of 34 cases diagnosed in fetuses.

OBJECTIVE: Our purpose was to develop a reliable method for prenatal diagnosis of fetal rubella infection through the detection of viral ribonucleic acid extracted from the chorionic villi, amniotic fluid, or fetal blood in pregnant women. STUDY DESIGN: Double amplification of rubella viral ribonucleic acid by nested polymerase chain reaction after reverse transcription was applied to samples from 34 women suspected of having rubella. The results were compared with those of serum antibody and levels of rubella virus-specific immunoglobulin M antibodies in fetal blood. RESULTS: Viral ribonucleic acid was revealed in 8 of 34 cases (23.5%). In the remaining 26 cases, healthy babies were born in 24, 1 was electively aborted, and 1 died in the thirty-sixth week of pregnancy of unknown causes. CONCLUSIONS: This method allowed very early detection of fetal rubella infection by sampling of chorionic villi and amniotic fluid compared with evaluation of the maternal symptoms and serum antibody levels. Fetal blood was also more useful for making a diagnosis up to the twentieth week of pregnancy than was measuring rubella virus-specific immunoglobulin M antibodies.

Adult↗
PubMed1989

Down syndrome at birth not detected by first-trimester chorionic villus sampling.

A case of a false-negative first-trimester diagnosis following chorionic villus sampling is reported that ended with the birth of a child with Down syndrome. Chromosome analysis of 30 metaphases from 24 h-cultured chorionic villi obtained in week 12 of gestation showed a normal chromosome constitution. However, the newborn showed manifestations of Down syndrome, and 99 of 100 metaphases analysed from cultured lymphocytes showed 47, XY, + 21. The remaining metaphase was normal (46, XY).

Chorionic Villi Sampling↗