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At least 379 records · Page 21Linked to original sources
PubMed2006

Informed choice of pregnant women in prenatal screening tests for Down's syndrome.

BACKGROUND: Although maternal serum screening (MSS) for Down's syndrome has become routinely available in most obstetric clinics in many countries, few studies have addressed the reasons why women agree to undergo the MSS test. OBJECTIVES: The aims of this study were to describe the circumstances in which MSS was offered to pregnant women and their reasons for undertaking it. METHODS: Participant observation and in depth interviews were used in this study; specifically, the experiences of women who had a positive result for MSS and who then followed this up with amniocentesis were examined. The interviewees were twenty six mothers aged between 22 and 35 years. The interviews were audio taped and transcribed for analysis. The results were analysed by the constant comparative method. RESULTS: This study identified the reasons on which pregnant women appeared to base their decisions when undergoing MSS. The reasons were first, the recognition that the procedure was a prenatal routine procedure; second, the need to avoid the risk of giving birth to a baby with Down's syndrome, and third, a trust in modern technology and in the professional authorities. CONCLUSIONS: This study offers insights into the informed choice made by women with a positive MSS result. The reasons for undergoing MSS might help health professionals and policy makers to reflect on their practice and this may, in turn, improve the quality of prenatal care during MSS.

Adult↗
PubMed1984

[Interlaboratory variation in the prenatal screening test for neural tube closing defects].

Early detection of neural-tude defects is possible by determining Alpha-fetoprotein (AFP) in maternal serum. 16'685 pregnant women were observed. Three methods for the determination of the "normal" range are compared. The first one, already used in similar studies, makes use of a constant multiple of the median. The other two ones make use of robust estimates of location and scale. Their comparison shows the interest of the robust methods to reduce the interlaboratory variability.

Female↗
PubMed1999

Utilisation of predictive, prenatal and diagnostic testing for Huntington's disease in Johannesburg.

CONTEXT: Huntington's disease (HD) is a dominantly inherited condition in which the gene defect is known. As such individuals in at-risk families can be tested before symptoms occur, prenatally, or after symptoms appear to confirm the diagnosis. OBJECTIVES: To investigate the utilisation and sequelae of the predictive, prenatal and diagnostic services offered to families with suspected Huntington's disease. DESIGN: A retrospective design was used. The 1975-1997 records of the Department of Human Genetics for all families with a history of HD presenting for genetic counselling and DNA analysis were studied. SETTING: Department of Human Genetics, South African Institute for Medical Research and University of the Witwatersrand, Johannesburg. SUBJECTS: There were 30 at-risk (50% risk) subjects for predictive testing, 7 women (10 pregnancies) for prenatal testing, and 52 subjects for diagnostic testing. OUTCOME MEASURES: These were provided by the results from molecular studies and by the action taken by subjects after a predictive or prenatal result was given. RESULTS: Altogether 15 (50%) subjects for predictive testing had a positive result, but none had serious psychiatric sequelae. Two women were found to be carrying an affected fetus and both requested pregnancy termination. Of 52 diagnostic tests, 33 (63%) were positive. CONCLUSION: The service was used appropriately, and there were no traumatic incidents following positive results. There was no genotypic or sex bias in subjects presenting for testing. Black and white patients were equally likely to be positive for HD on diagnostic testing. The families appreciated the service and found it useful in the detection and prevention of HD.

Female↗
PubMed1997

Rapid DNA-based prenatal diagnosis by genetic linkage in three families with Alport's syndrome.

Alport's syndrome (AS) is a clinically and genetically heterogeneous progressive inherited glomerulonephritis characterized by hematuria, sensorineural hearing loss, ocular lesions, and specific alterations of the glomerular basement membrane. Typically, AS shows an X-linked dominant pattern of inheritance, with mutations affecting the collagen type IV alpha5 chain gene (COL4A5) at Xq22. Rarely, AS is caused in some families by mutations of the COL4A3/A4 genes on chromosome 2q, showing an autosomal recessive transmission. Very few families have been described with possible autosomal dominant AS, but no mutations in any of the COL4 genes have been found. We describe three unrelated families affected with a severe AS phenotype in which DNA-based prenatal diagnosis by linkage analysis was made in fetuses at risk for the disease. In two families, the pedigree structure and the clinical picture were consistent with typical X-linked dominant AS. In these families, autosomal inheritance was also ruled out molecularly. In one family, despite careful clinical and molecular evaluation, the mode of transmission could not be firmly established. We used tightly linked and intragenic COL4A5 markers, as well as COL4A3/A4-linked markers. A chromosome Y-specific marker for fetal sex determination was simultaneously used. In all the families, before the fetal analysis, the putative at-risk X haplotype was identified with high diagnostic accuracy. We diagnosed a healthy male fetus in one family, and female but carrier fetuses in the other two kindreds, who decided not to terminate their pregnancies. We used rapid nonisotopic polymerase chain reaction-based methods, and the results were available within 2 to 3 days. The genetic results significantly affected the reproductive decisions of the parents. This report illustrates the application of genetic linkage analysis as an additional tool for molecular diagnosis in AS, and also addresses the issue of the attitudes of the families toward prenatal testing. To our knowledge, prenatal diagnosis of AS using a genetic linkage approach has not been previously reported.

Adult↗
PubMed2003

Carrier testing and prenatal diagnosis of haemophilia B by SSCP in an Iranian family.

Haemophilia B is an X-linked recessive bleeding disorder caused by multiple molecular defects in factor IX gene. During our genotyping programme of haemophilia B patients, a family from the west of Iran was referred to us. We first detected the mutation in the index case of the family by single-strand conformation polymorphism (SSCP) technique. This technique was then applied in carrier detection and prenatal diagnosis for females of this family. Sequencing later revealed the mutation as being G to A at 20519.

Factor IX↗
PubMed1995

Voluntary newborn HIV-1 antibody testing: a successful model program for the identification of HIV-1-seropositive infants.

Harlem Hospital in New York City has one of the highest HIV-1 newborn seroprevalence rates in the United States. We report the results of a program introduced in 1993 and designed to identify HIV-1-seropositive (HIV+) newborns at birth. All new mothers, independent of risk, received HIV counseling that emphasized the medical imperative to know the infant's HIV status as well as their own. Consent was obtained to test the infant; discarded cord blood samples were tested by enzyme-linked immunosorbent assay (ELISA), and when positive, Western Blot confirmation. We compared the number of HIV+ infants identified through voluntary testing with the number reported by the anonymous New York State Newborn HIV Seroprevalence Study. In 1993, 97.8% (91 of 93) of the number of HIV+ infants identified by the anonymous testing were identified through voluntary maternal and newborn testing programs. Eighty-five HIV+ infants were identified before nursery discharge: 50% (42/85) through newborn testing; 14% (12/85) through prenatal testing; 13% (11/85) presented to care knowing their status; 23% (20/85) were known because of a previous HIV+ child. Six additional HIV+ children were diagnosed after hospital discharge (mean age, 5.5 months; range 1.5 through 17 months); four presented with symptomatic disease. The optimal time for identification of the HIV+ pregnant woman is before or during pregnancy, but when this does not occur, voluntary newborn testing can identify many HIV+ infants who would otherwise be discharged undiagnosed from the nursery.

Blotting, Western↗