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Results for “Chorionic Villi Sampling”

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At least 1,621 records · Page 90Linked to original sources
PubMed1988

Prenatal diagnosis and carrier detection by DNA studies in a Duchenne muscular dystrophy family with no living affected male.

Restriction fragment length polymorphism studies and gene dosage analysis using the intragenic probes pERT87 were used to detect deletions in potential carriers in a family with Duchenne muscular dystrophy in which the only affected male was deceased. Two females were found to have inherited the paternal pERT87 alleles but not the maternal alleles, suggesting that they have inherited the pERT87 deletion from their mothers. The hybridization signals of pERT87 from these two females upon gene dosage analysis also suggested that they had a single copy of pERT87. The chorionic villi of a male fetus from one of these two females was found to be deleted for pERT87, suggesting that it was affected. This result confirmed the carrier status of the mother.

Alleles↗
PubMed2004

Prenatal diagnostic testing and Down Syndrome in Victoria 1992--2002.

OBJECTIVE: To describe patterns of uptake of prenatal diagnostic testing and prenatal detection rates for Down syndrome in Victoria with regard to maternal age and prenatal screening practices. METHODS: Analysis of routinely collected statewide datasets for 1992 to 2002, containing detailed information on all prenatal diagnoses, births and birth defects. RESULTS: Utilisation of prenatal diagnosis in women less than 37 years has increased significantly (p<0.0001), whereas in older women it has fallen from 65.1% in 1996 to 42.7% in 2002. The overall proportion of diagnostic tests prompted by an increased risk screening test result has increased five-fold over 11 years to 35.4% in 2002 (p<0.0001). Almost 6% of diagnostic tests done in 2002 detected a fetal chromosome abnormality, compared with 3.0% in 1992. Prenatal detection of Down syndrome has increased in women less than 37 years with approximately 70% of cases now diagnosed prenatally (p<0.0001). A smaller non-significant increase (from 67% to 82%) in prenatal detection of Down syndrome was observed among older women. CONCLUSIONS: The widespread use of prenatal screening for Down syndrome has changed the demographic profile of women having prenatal diagnosis in terms of their age. An increasing number and proportion of younger women and fewer older women are having prenatal diagnosis. The declining figures for diagnostic testing in older women have not had an impact on prenatal detection rates for Down syndrome. IMPLICATION: Current prenatal screening practices provide a more effective risk assessment for Down syndrome and indication for prenatal diagnosis than advanced maternal age alone.

Adult↗
PubMed1991

Chromosome abnormalities detected in chorionic villus biopsies of failing pregnancies in a subfertile population.

OBJECTIVE: To determine the range and prevalence of chromosomal abnormalities occurring in failing pregnancies in subfertile women. DESIGN: Prospective biochemical and ultrasound monitoring of all pregnancies conceived between 1988 and 1990 in a subfertile population. SETTING: A single-centre specialist fertility clinic in Perth, Western Australia. SUBJECTS: Tissue from 50 early pregnancy losses was successfully cultured for chromosomal analysis from 46 pregnancies comprising 29 anembryonic pregnancies, 9 miscarriages and 8 ectopic pregnancies. MAIN OUTCOME MEASURES: Impending pregnancy loss was identified at an early stage. Chromosomal analysis was performed on chorionic villi obtained before the diagnosis became clinically evident. RESULTS: Significant chromosomal abnormalities were identified in 54% (14/26) of early pregnancy losses where gamete manipulation was involved and 45% (9/20) of those following spontaneous conception. The most common abnormalities were trisomies (12 pregnancies, mainly trisomy 16), triploidies (3 pregnancies) and monosomy X (3 pregnancies). An excess of female fetuses was noted with only 24% of conceptuses (11/46) bearing a Y chromosome. CONCLUSIONS: The data indicate a similar rate of chromosomal abnormalities underlying pregnancy losses at earlier stages of pregnancy and after infertility treatments as that reported from the general population. Gamete manipulation does not appear to confer a higher rate of chromosomal abnormalities in ensuing pregnancies.

Adult↗
PubMed1999

The predictive value of endometrial stripe thickness in patients with suspected ectopic pregnancy who have an empty uterus at ultrasonography.

UNLABELLED: Prior research suggests that, in patients with empty uteri at ultrasonography, endometrial stripe thickness may be predictive of ectopic pregnancy or the likelihood of obtaining chorionic villi after a dilatation and evacuation procedure (D+E). However, it is unclear whether the predictive value of endometrial stripe thickness is confined to patients with low beta-human chorionic gonadotropin (beta-hCG) values. OBJECTIVE: To determine whether endometrial stripe thickness is predictive of the risk of ectopic pregnancy or the likelihood of obtaining chorionic villi after D+E in patients with beta-hCG values >1,000 mIU/mL or < or =1,000 mIU/mL. METHODS: In an urban academic ED, the authors conducted a retrospective chart review of consecutive ED patients from August 1991 to August 1997 with abdominal pain or vaginal bleeding, a positive beta-hCG value, and an empty uterus by transvaginal ultrasound examination. Patients were divided into four groups-group 1: endometrium thin, beta-hCG value < or =1,000 mIU/mL; group 2: endometrium thick, beta-hCG value < or =1,000 mIU/mL; group 3: endometrium thin, beta-hCG value >1,000 mIU/ mL; and group 4: endometrium thick, beta-hCG value >1,000 mIU/mL. The secondary analysis was limited to patients who had a D+E performed within 48 hours of the ED visit. The risks of ectopic pregnancy and the likelihoods of obtaining chorionic villi after D+E were compared using chi-square or Fishers' exact test where appropriate, with a p-value of 0.05 being significant. RESULTS: 224 patients were enrolled in the initial analysis. Intergroup differences in the frequency of ectopic pregnancy were of borderline significance (p = 0.08). However, when the comparison was limited to the groups with beta-hCG values < or =1,000 mIU/mL, the predictive value of endometrial stripe thickness reached statistical significance (group 1: 27/99 [27%], group 2: 2/28 [7%], p = 0.05). 79 patients had a D+E performed. Intergroup differences in the rate of obtaining chorionic villi were significant (p = 0.002). Group 1 had the lowest frequency of having chorionic villi identified (4/26 [15%]) and was the only group in which villi were obtained in fewer than 50% of cases. CONCLUSION: Endometrial stripe thickness may be predictive of the risk of ectopic pregnancy and the likelihood of obtaining chorionic villi at D+E. However, its predictive value appears to be confined to patients with beta-hCG values < or =1,000 mIU/mL.

Academic Medical Centers↗
PubMed1991

Prenatal diagnosis of thalassemia and hemoglobinopathies in Switzerland.

During a 10-month period, 10 couples originating from Africa (3), the tropics (1) and the thalassemia-belt region (6), living in Switzerland, requested prenatal diagnosis of hemoglobinopathies. Hb SS (twice), Hb Bart's (Hydrops fetalis) and beta-thalassemia major were diagnosed either by gene mapping or by direct detection of the mutations in DNA amplified by the PCR procedure. Whenever it was possible to obtain fetal blood or tissue, diagnosis was confirmed. In one Vietnamese man, concomitant existence of alpha-thal 1 with beta-thalassemia resulted in an unusually high Hb level because of balanced alpha and beta globin synthesis. The 10 couples examined originated from 7 different countries and presented at least 7 different Hb pathologies. This variety of pathologies represents the main difficulty for prenatal diagnosis of hemoglobinopathies in a non-endemic country. A diagnostic approach to overcome this problem is developed.

Base Sequence↗
PubMed1990

In vitro gene amplification for prenatal diagnosis of congenital adrenal hyperplasia.

A simple, rapid, non-radioactive method for detecting homozygous deletions/conversions of the steroid 21-hydroxylase gene is described. In our experience this method will be useful for first trimester prenatal diagnosis of congenital adrenal hyperplasia in 17% of families of a child with the salt losing form. This test includes an internal control to monitor the success of amplification.

Adrenal Hyperplasia, Congenital↗