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Results for “Chorionic Villi Sampling”

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PubMed1990

[Fetal diagnosis of Edwards syndrome].

Eight cases of Edward's syndrome were found prenatally by cytogenetical analysis of 1680 pregnant women. It has been estimated that after Down's syndrome Edwards's syndrome is the most frequently encountered chromosomal abnormality. This syndrome is associated with high rate of anomalies detectable by ultrasound (e.g. omphalocele, polyhydramnion, growth retardation). Here it is discussed in relation with sonographical findings related to Edwards's syndrome and representing clear indications for chromosomal analysis. The authors call attention to the importance of the diagnosis of Edward's syndrome at each gestational age.

Abnormalities, Multiple↗
PubMedDate not supplied

[Fetal chromosome studies in the first trimester of pregnancy].

The possibility of transcervical biopsy of chorion by the method of forceps and production of "direct" preparations of chromosomes in the first trimester of pregnancy has been studied. Satisfactory preparations are obtained during short-term incubation of villi for 24 and 48 hours. Portion of complete metaphases constitutes 0.23.

Chorionic Villi Sampling↗
PubMed1990

Efficiency of modified medium for direct chromosome preparation of the chorionic villi.

The direct chromosome preparation from the CV is a reliable method for diagnosis of the gross chromosomal anomalies and could be completed in the shortest possible time. However, direct villi preparation does not always provide sufficient or good quality metaphases. The culture medium plays an important role in achieving a good success rate. We report the efficacy of our modified medium and compared it with Chang's. The modified medium showed slightly higher successful karyotyping (68.4%) than the Chang medium (65.4%). This success rate showed no statistically significant difference. The success rate enhanced up to 92.3 per cent using our modified medium when the CV was of good quality. The higher amount of CV did not lead to a higher success rate. Any amount more than 5 mg of the CV was sufficient for direct chromosome preparation.

Chorionic Villi Sampling↗
PubMed1990

[Transabdominal chorion villus biopsy following abnormal ultrasonic findings in the second trimester].

If oligohydramnios, growth retardation or foetal malformations are demonstrated by ultrasonic scanning in the second or third trimesters, this implies that the risk of chromosome anomalies is significantly increased. In cases such as these, determination of the foetal karyotype may therefore be indicated. Until recently, amniocentesis has been employed for this but the results of the chromosome investigation are not available until two to three weeks after the intervention. The delay between amniocentesis and the result of chromosome investigation imposes a mental strain on the pregnant woman. Three patients with abnormal ultrasonic findings in the second trimester were, therefore, submitted to transabdominal chorion villus biopsy and, in all three cases, a karyotype was available within 48 hours. Chorion villus biopsy in the second (and third) trimester is indicated in pregnancies in which oligohydramnios, growth retardation or foetal malformations have been demonstrated by ultrasonic scanning, in cases where referral for antenatal diagnosis is very late and when chromosome investigation after amniocentesis proves unsuccessful and repeated amniocentesis would result in an unacceptably late result.

Chorionic Villi Sampling↗
PubMed1989

[Prenatal diagnosis in a family carrying the fragile X syndrome using recombinant DNA technics].

The prenatal diagnosis in a family carrying the Fragile Chromosome X Syndrome (sex linked mental retardation) has been performed using Recombinant DNA techniques. The use of these techniques together with cytogenetics and prenatal diagnosis using chorial biopsy, have enabled the diagnosis of the disease on a male foetus on the twelfth week of pregnancy. Similarly, we have been able to confirm the carrier state of the mother (proven) and the grand mother, and furthermore, the non affected condition of an older son to this mother. The results obtained reveal the importance of the new molecular techniques applied to the diagnosis of certain diseases with a genetic origin.

Adult↗
PubMed1989

Prenatal diagnosis of alpha-1-antitrypsin deficiency using polymerase chain reaction (PCR). Comparison of conventional RFLP methods with PCR used in combination with allele specific oligonucleotides or RFLP analysis.

Prenatal diagnosis of alpha 1-antitrypsin (AAT) deficiency can be performed in the 1st trimester of pregnancy. These diagnoses have been based on DNA technology using either RFLP analysis or hybridization with allele specific oligonucleotides. Several RFLPs within and flanking the AAT gene have been found to render most families informative. The polymerase chain reaction allows specific DNA sequences to be amplified up to ten million fold. Both sequences containing a specific mutation or an RFLP can be amplified by this method. We have compared conventional RFLP methods with PCR used in combination with allele specific oligonucleotides or RFLP analysis, in a case of prenatal diagnosis of AAT deficiency of the ZZ type.

Adult↗

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