Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “Chorionic Villi Sampling”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 1,747 records · Page 97Linked to original sources
PubMed1992

[Noninvasive screening for chromosome abnormalities in young pregnant patients].

Two thirds of the patients with Down's syndrome are born by women below 35 years of age. An extension of invasive prenatal diagnosis to these women is problematical due to the operative risks and the relatively high costs. Therefore, non-invasive screening methods are sought, apt to identify groups at high risk. Biochemical screening methods applied at 16 weeks of pregnancy (triple test) and the new first trimester tests are discussed. Ultrasound screening at 10 to 12 weeks is dealt with in more detail. A large fluid cushion over most of the back was documented not only in most cases of trisomy 21 but in trisomies 18 and 13 and in Turner's syndrome as well. Only few chromosomally normal fetuses with the same peculiarity were observed. Systematic first trimester screening for nuchal fluid accumulation seems to be a recommendable method for the detection of chromosome anomalies. It compares favourably with current methods of maternal serum screening performed at 16-18 weeks which require a manyfold higher number of invasive procedures.

Amniocentesis↗
PubMed2004

[Invasive prenatal diagnosis in the Netherlands, 1991-2000: number of procedures, indications and abnormal results detected].

OBJECTIVE: To provide an overview of invasive prenatal diagnosis in the Netherlands during the period 1991-2000 and to analyse potential trends. DESIGN: Retrospective. METHOD: The annual results from all 13 Dutch centres for invasive prenatal diagnosis over the period 1991-2000 were combined and described, with particular emphasis on indications, number and type of invasive procedures, and number and type of abnormal results. RESULTS: The percentage of pregnancies in which invasive prenatal diagnostics were carried out increased from 5% in 1991 to 6% in 1996 and remained at the same level until 2000. 'Maternal age' was the main reason for prenatal testing (69.2-73.3% of procedures). However, the number of pregnant women aged 36 or over increased by 69.9%. An abnormal result was found in an average of 4.7% of procedures, rising from 3.6% in 1991 to 5.4% in 2000. In 70.8% of cases with abnormal results, the pregnancy was terminated. Important trends were the relative decrease of cordocentesis (-82%) and chorionic villi biopsy (-18%) in favour of amniocentesis (+48%), and a strong decrease in the number of amniocentesis procedures on indication of increased risk of neural tube defect. CONCLUSION: The total number of invasive prenatal diagnostic procedures remained stable. However, there was an important decrease in the percentage of pregnant women aged 36 or over who underwent invasive prenatal diagnosis without previous prenatal screening.

Adult↗
PubMed1992

[Massive subchorionic fibrin deposit: echographic diagnosis].

Intra-placental sub-chorionic fibrin deposition is a frequent finding but generally does not involve alterations of hemodynamics or the organ's gaseous metabolism. If the deposition is massive, as in the two cases reported here, delayed fetal growth may occur due to altered placental function. Diagnosis using ultrasound is useful both to identify fibrin plaques and to identify possible fetal hypo-development.

Adult↗
PubMed1992

Cystic fibrosis. Part I. Frequency of the delta F508 mutation in South African families with cystic fibrosis.

Cystic fibrosis (CF) is a common autosomal recessive disorder among people of European origin. With the localisation of the gene locus to chromosome 7q31 and the identification of closely linked polymorphic markers in 1985, it became possible to offer prenatal testing to couples at risk of having CF children, provided a live affected individual from that family was available for investigation. The CF gene, named CFTR, was cloned and sequenced in 1989 and the most common CF-causing mutation, delta F508, identified. A search for this mutation has been carried out in 81 South African white CF families of European origin. Using the polymerase chain reaction (PCR) technique the frequency of delta F508 was found to be 0.81. This mutation was not found in the 1 negroid and the 1 Indian CF family investigated.

Amniocentesis↗
PubMedDate not supplied

[Hematopoietic stem cell transplant in combined immunodeficiency syndromes of childhood: an optimal treatment for primary immunodeficiency].

The congenital immunodeficiency disorders in which the defect has been clearly traced to the stem cell can be cured with allogeneic stem-cell transplantation (SCT) from an unaffected donor. Widespread application of this treatment modality has been tempered by the fact that risk-benefit considerations do not always favor a procedure that carries a significant risk for morbidity and mortality. Some malignant disorders of childhood eventually have to be treated by an autologous or allogeneic SCT, however nonmalignant disorders can also be treated with this approach. This article reviews the current status of SCT for nonmalignant inherited immunodeficiency disorders.

Adolescent↗
PubMed2005

Rapid and cost-effective antenatal diagnosis of haemoglobin Bart's hydrops foetalis syndrome using a duplex-polymerase chain reaction.

Haemoglobin Bart's hydrops foetalis syndrome (--SEA/--SEA) is not compatible with life and contributes to a majority of the hydropic foetuses in the Malaysian Chinese alpha-thalassaemia carriers who possess the 2-alpha-gene deletion in cis (--SEA/alphaalpha). A duplex-PCR which simultaneously amplifies a normal 136 bp sequence between the psialpha-alpha2-globin genes and a 730 bp Southeast Asian deletion-specific sequence (--SEA) between the psialpha2-theta1-globin genes was established. The duplex-PCR which detects the --SEA deletion in both chromosomes serves as a rapid and cost-effective confirmatory test in the antenatal diagnosis of Haemoglobin Bart's hydrops foetalis syndrome in Malaysia. In addition, the duplex-PCR is simple to perform as both the normal and deletion-specific alpha-globin gene sequences are amplified in the same PCR reaction.

Chorionic Villi Sampling↗
PubMed2006

Detection of alpha-thalassemia in beta-thalassemia carriers and prevention of Hb Bart's hydrops fetalis through prenatal screening.

The aim of this study was to detect alpha-thalassemia in beta-thalassemia carriers during prenatal screening. During a 12-year prenatal screening program, a total of 158 couples (3.2%) were diagnosed to be the discordant alpha- and beta-thalassemia carriers. Of the 158 beta-thalassemia partners, seven (4.4%) were found to have co-inheritance of alpha0-thalassemia, and three (1.9%) found to have co-inheritance of alpha(+)-thalassemia. Three pregnancies affected with Hb Bart's hydrops fetalis were terminated in the 158 couples. The results showed that molecular analysis must be used for accurate diagnosis of double heterozygotes in couples presumed to be discordant for alpha- and beta-thalassemia on hematologic testing.

Abortion, Eugenic↗
PubMed1991

Haemophilia management: the application of DNA analysis for prenatal diagnosis.

The haemophilias are chronic debilitating disorders which cause significant morbidity for the patient and may affect the whole family. An important part of the management of these disorders is the provision of accurate carrier detection and prenatal diagnosis in conjunction with genetic counselling services. We report the results of carrier detection and prenatal diagnosis obtained over a two year period using recombinant DNA techniques. Eighty-seven individuals from 15 families with either haemophilia A or B have been evaluated using informative intragenic factor VIII or IX restriction fragment length polymorphisms. Chorionic villi biopsies for prenatal diagnosis have been performed in four subjects, revealing two female carriers, one normal male, one normal of unknown sex and one haemophiliac male. The use of genotypic diagnosis of haemophilia A and B, in conjunction with conventional assays, is now a routine part of the modern management of haemophilia and many other inherited disorders.

Chorionic Villi Sampling↗
PubMed1990

[Prenatal diagnosis in Denmark, development, current status and future trends].

The fields of indication for prenatal diagnostics in Denmark have hardly varied since 1981. The number of amniocenteses has remained almost constant since 1984 while the number of chorion villus biopsies has risen in the past year. This reflects the fact that many women seek prenatal diagnosis while this can be made before attainment of the abortion limit in the 12th week of pregnancy. There is at present no political desire to extent the age limits for prenatal diagnostics, or to introduce serum-AFP-screening or general ultrasonic screening of expectant mothers.

Abortion, Induced↗
PubMed1990

[Prenatal diagnosis].

There is probably no other medical field which has undergone such rapid development during the past 20 years as prenatal diagnosis. The number of women who desire this assistance is steadily increasing and more and more techniques have become available which enable a growing number of genetic defects to be diagnosed with certainty prior to birth. Prenatal diagnosis is a significant tool of genetic counselling.

Amniocentesis↗