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PubMedDate not supplied

Increased nuchal translucency thickness in a fetus at risk for beta-thalassaemia.

In Greece and other Mediterranean countries up to 10% of the population are carriers of beta-thalassaemia and this is the most common indication for chorion villus sampling (CVS): Cytogenetic analysis of the samples is not carried out routinely, but is confined only to women aged 35 years or more. In this report we present a case that illustrates how the measurement of fetal nuchal translucency may be useful in selecting the cases where in addition to the DNA analysis for beta-thalassaemia the samples can be tested for chromosomal defects.

Adult↗
PubMed1997

Incidence and outcome of chromosomal mosaicism found at the time of chorionic villus sampling.

OBJECTIVE: Chromosomal mosaicism has been reported in about 1% to 3% of chorionic villus sampling specimens. This report provides incidence and outcome information that should be useful in counseling patients found to have mosaicism on chorionic villus sampling. STUDY DESIGN: A retrospective analysis of 11,200 consecutive patients undergoing chorionic villus sampling at the University of California, San Francisco, during the period from Jan. 1, 1984, to June 1, 1996, was undertaken. RESULTS: A total of 140 cases of mosaicism were identified for an incidence of 1.3%. Follow-up information was available for 130 cases, 26 of which (20%) were confirmed in fetal tissue. Confirmation rates for specific types of mosaicism were as follows: autosomal trisomy 7.6%, sex chromosome 25%, structural abnormality 27.3%, and marker chromosome 77.8%. Neonatal outcome was normal in all cases for which pregnancy continued. CONCLUSION: The data indicate that in most cases of chromosomal mosaicism found by chorionic villus sampling the mosaicism is unlikely to be clinically significant in the fetus.

Chorionic Villi Sampling↗
PubMed1989

First trimester diagnosis of a partial mole with the combined use of ultrasound and chorionic villous sampling.

A patient with vaginal bleeding in the first trimester of pregnancy had a serum human chorionic gonadotropin (hCG) titer of 495,132 mlU/ml and an abdominal ultrasound examination revealed an intrauterine gestational sac without a fetal pole. Two and a half weeks later the hCG titer was 385,000 mlU/ml and a fetal pole was visualized. Transabdominal villous sampling was performed because of the suspicion of a partial mole. Histopathologic examination showed hydropic villi and chromosomal studies were consistent with triploidy. The diagnosis of partial mole in the first trimester of pregnancy was made and the pregnancy terminated.

Adult↗
PubMed1989

Transabdominal chorionic villus sampling in the second trimester of pregnancy: feto-maternal transfusions in relation to pregnancy outcome.

Volumes of feto-maternal transfusions (FMTs) in transabdominal chorionic villus sampling (TACVS) in the second trimester of pregnancy were calculated from the difference between maternal alpha-fetoprotein (AFP) concentrations before and 1 h after TACVS. In 50 pregnancies, there existed no correlation between FMT volume and the amount of villi collected or the number of TACVS attempts. The expected risk of fetal exsanguination due to very voluminous FMT could not be substantiated. In one case, immunization could have been the cause of hydrops fetalis, although only a volume of 0.15 ml could be calculated.

Adult↗
PubMed2000

Chorion villus sampling versus amniocentesis for prenatal diagnosis.

BACKGROUND: Amniocentesis test results are usually available only after 18 weeks gestation. Chorion villus sampling (CVS) may be performed transabdominally or transvaginally, usually between 10 and 12 weeks gestation. OBJECTIVES: The objective of this review was to assess the safety and accuracy of chorion villus sampling compared to amniocentesis. SEARCH STRATEGY: We searched the Cochrane Pregnancy and Childbirth Group trials register. SELECTION CRITERIA: Randomised trials comparing first trimester chorion villus sampling and second trimester amniocentesis. DATA COLLECTION AND ANALYSIS: Trial quality was assessed. MAIN RESULTS: Three studies involving over 9000 women were included. The trials were generally of good quality. Compared to amniocentesis, chorion villus sampling was associated with more sampling and technical failures, and more false positive and false negative results. Pregnancy loss was more common after chorion villus sampling (odds ratio 1.33, 95% confidence interval 1.17 to 1.52). There is a suggestion (though not statistically significant) of an increase in stillbirths and neonatal deaths following chorion villus sampling. Maternal complications were uncommon. REVIEWER'S CONCLUSIONS: The increase in miscarriages after chorion villus sampling compared to amniocentesis appear to be procedure related. Second trimester amniocentesis appears to be safer than chorion villus sampling. The benefits of earlier diagnosis with chorion villus sampling must be set against the greater risk of pregnancy loss.

Chorionic Villi Sampling↗
PubMed1991

Intraplacental sonolucent spaces: incidences and relevance to chorionic villus sampling.

Detailed ultrasound examination of the placentae from 293 consecutive women requesting first-trimester chorionic villus sampling (CVS) showed evidence of intraplacental sonolucent spaces with varying density in 42.3 per cent of these placentae. Their presence, however, did not complicate the subsequent course of these women's pregnancies. Their prime significance relates to CVS, where inadvertent entry into these areas can lead to bleeding and contamination of the villus specimens with blood. A search for these spaces should be made before sampling, and when present, they should be avoided wherever possible.

Chorionic Villi Sampling↗
PubMed1998

Abnormal karyotypes in semi-direct chorionic villus preparations of women with different cytogenetic risks.

Among 3499 cytogenetically investigated semi-direct chorionic villus samples, 219 (6.3 per cent) abnormal karyotypes were encountered. The karyotypes were considered certainly abnormal (generalized abnormal with high probability) in 109 cases (3.1 per cent), and in 110 cases (3.1 per cent) uncertainly abnormal (potentially confined to the placenta), requiring further investigation. Of these 110 uncertain abnormalities, the cytogenetic result turned out to be finally abnormal representing generalized abnormality in 36 cases (32.7 per cent), finally normal representing confined placental mosaicism (CPM) in 69 cases (62.7 per cent), and remained undetermined in 5 instances (4.5 per cent). The rate of the numbers of certainly abnormal and all (certainly + uncertainly) abnormal results, the certainty rate, and that of generalized abnormalities and all abnormalities (generalized abnormalities + CPM cases), the predictive value, are strongly correlated with the cytogenetic risk. Therefore, we advise chorionic villus sampling for cytogenetic investigation only in women with a cytogenetic risk equal to or exceeding that of a 40-year-old pregnant woman. Because of the high rate of prenatal follow-up investigations after the finding of uncertain results in semi-direct villi, semi-direct and cultured villi should be karyotyped simultaneously.

Adult↗
PubMed1989

Direct chromosome analysis in the second and third trimesters by placental biopsy in 30 pregnancies.

Direct chromosome analysis was performed on placental villi obtained by ultrasound-guided transabdominal needle aspiration in 30 women at between 23 and 37 weeks gestation. Placental biopsy is simple in the presence of severe oligohydramnios where fetal blood sampling is usually more difficult. Direct karyotyping of placental villi is more rapid than chromosomal analysis from fetal blood and from amniotic fluid. Two chromosomal anomalies were discovered: one trisomy 18 and one 6p+. Villus sampling failed in one woman and two samples obtained at 36 and 37 weeks gestation could not be karyotyped. The procedure did not affect the outcome of the pregnancy.

Adult↗
PubMed2005

Prenatal diagnosis in a family with X-linked hydrocephalus.

The neural cell adhesion molecule L1 is a transmembrane glycoprotein belonging to the immunoglobulin superfamily of cell adhesion molecules (CAMs). Its expression is essential during embryonic development of the nervous system and it is involved in cognitive function and memory. Mutations in the L1CAM gene are responsible for four related L1 disorders; X-linked hydrocephalus/HSAS (Hydrocephalus as a result of Stenosis of the Aqueduct of Sylvius), MASA (Mental retardation, Aphasia, Shuffling gait, and Adducted thumbs) syndrome, X-linked complicated spastic paraplegia type I (SPG1) and X-linked Agenesis of the Corpus Callosum (ACC). These four disorders represent a clinical spectrum that varies both between and within families. The main clinical features of this spectrum are Corpus callosum hypoplasia, mental Retardation, Adducted thumbs, Spastic paraplegia and Hydrocephalus (CRASH syndrome). Since there is no biochemically assayed disease marker, molecular analysis of the L1CAM gene is the only means of confirming a clinical diagnosis. Most L1CAM mutations reported to date are point mutations (missense, nonsense, splice site) and only a few patients with larger rearrangements have been documented. We have characterised a rare intragenic deletion of the L1CAM gene in a sample of DNA extracted from a chorionic villus biopsy (CVB) performed at 12 weeks' gestation. =

Chorionic Villi Sampling↗
PubMed1995

[Prenatal diagnosis].

A growing number of methods for the in-utero diagnosis of fetal disease became available during recent decades, mainly due to rapid advances in ultrasound technology and laboratory methods. Exclusion of fetal aneuploidy in pregnancies of women beyond 34 years is still by far the most common reason for an invasive procedure event at a time when the number of diagnosable inborn errors of metabolism and monogenetic disorders is increasing rapidly. Great efforts have been made to improve the poor predictive value of maternal age as an indicator for an increased risk for fetal aneuploidy. Maternal serum screening using various parameters [e.g. AFP, hCG, uE3] has been found effective in identifying the majority of pregnancies with Down syndrome in the second trimester. Current research goals are the optimal choice of markers and the introduction of maternal serum screening in the first trimester of pregnancy. Ultrasound is another suitable tool to identify pregnancies at high risk for aneuploidy at least in the hands of experienced operators. The diagnostic use of fetal cells in the maternal circulation is presently investigated in a large collaborative trial. Second trimester amniocentesis still is the most widely applied invasive technique in pregnancies with maternal age related risks for fetal aneuploidy. Safety and diagnostic accuracy are well established and amniotic fluid can easily be shipped. Without major changes in conventional sampling and laboratory techniques the procedure can be performed at 13 weeks of gestation and later. The safety and efficacy of first-trimester amniocentesis has still to be established in larger series. First-trimester chorionic villus sampling is a well-established alternative to amniocentesis with comparable procedure-related risks. It is the method of first choice in pregnancies at high risk for aneuploidy, inborn errors of metabolism and monogenic disorders, since uncultured villi can be used for a rapid diagnosis. Placental biopsy should also be considered in the second and third trimester of pregnancy for these indications whenever time is a critical issue. Fetal blood obtained by ultrasound-guided cordocentesis has successfully been used for the diagnosis of fetal infection and is at the same time another good source of cells for rapid karyotyping. Other invasive procedures such as fetal skin or liver biopsies for electron microscopy or specific metabolic tests are restricted to the relatively rare instances of diseases where DNA diagnosis is currently not available or uninformative. Providing information on the different alternatives in an individual situation is one of the critical issues in pregnancy care today.

Amniocentesis↗
PubMed1992

Prenatal diagnosis of Chediak-Higashi syndrome.

We report the first prenatal diagnosis of an affected fetus with Chediak-Higashi syndrome (CHS). Diagnosis was accomplished via fetal blood sampling at 17 menstrual weeks and was confirmed after birth. Retrospective measurement of the largest acid phosphatase-positive lysosomes in cultured amniotic fluid cells and chorionic villus cells showed that in CHS these lysosomes are significantly larger than those in normal cells. This method may be used for prenatal diagnosis of CHS by amniocentesis and chorionic villus sampling (CVS).

Acid Phosphatase↗