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Results for “prenatal testing”

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PubMed1985

A simple sensitive prenatal test for hydrops fetalis caused by alpha-thalassaemia.

Slot blot analysis was used to differentiate between the genotypes of homozygous alpha-thalassaemia and those of haemoglobin-H disease and alpha-thalassaemia trait. The method is simple and rapid because restriction enzyme digestion and gel electrophoresis are not needed. Because of the great sensitivity of the test, as little as 0.5 micrograms of DNA can be studied with an 35S-labelled probe which has a longer isotopic half life than the 32P probes normally used for gene mapping. This assay should facilitate prenatal diagnosis in countries where pregnancies at risk for alpha-thalassaemia are common.

Amnion↗
PubMed1996

Attitudes to prenatal testing and notification for HIV infection in Nairobi, Kenya.

Four hundred antenatal clinic attendants were surveyed for their attitude to testing and notification for HIV infection test results. The participants were systematically sampled from the antenatal clinic at the Kenyatta National Hospital, Nairobi, and interviewed using a closed-ended structured questionnaire. All the attendants had heard of HIV, and only 5(1.3%) did not know how Acquired Immunodeficiency Syndrome (AIDS) presents. Fifty one percent of them had no objection to their blood being tested for HIV. In fact, 52.5% thought, wrongly, that blood was routinely tested for HIV at the hospital's antenatal clinic. More than one third (35.8%) of respondents wished their permission to be obtained before the testing and 95% wished to be informed of the test result. Acceptability of testing was 33.8%, for Named Voluntary Testing, 62.0% for Universal Testing and 1.0% for Anonymous Testing. All the women said they would want to use a method of contraception, principally tubal ligation, if found HIV seropositive and 63.7% would seek a termination of pregnancy. In this study population, acceptability and expressed willingness to know HIV test results and willingness to let a spouse/sexual partner know the result was high. This paper makes recommendations that HIV testing be made available at the ANC, together with competent pre and post-test counselling.

Adolescent↗
PubMed1987

Prenatal testing for maternal serum alpha-fetoprotein.

The maternal serum alpha-fetoprotein level should be measured in all pregnant women at 16 to 20 weeks of gestation. Elevated alpha-fetoprotein levels require evaluation by ultrasonography and, sometimes, amniocentesis to detect neural tube defects. Low alpha-fetoprotein levels may be associated with chromosomal anomalies and should be evaluated with amniocentesis. Alpha-fetoprotein testing is cost-effective, and medicolegal liability makes it imperative to offer this screening test to all pregnant women.

Enzyme-Linked Immunosorbent Assay↗
PubMed1998

With HIV prevalence among women increasing, more provinces encourage prenatal testing.

Testing of pregnant women for antibodies to HIV remains a thorny medical and ethical issue. On the one side are children who stand to benefit if their mothers' HIV status is determined. On the other is women's right to determine what tests they will receive. A majority of provinces now have counselling programs in place to encourage women to undergo testing. However, testing remains voluntary and informed consent is required before a test is done--policies that have CMA support.

AIDS Serodiagnosis↗
PubMed1996

Prenatal testing to predict the severity of hemolytic disease of the fetus and newborn.

The severity of hemolytic disease of the fetus or newborn can be assessed with certainty only by measurement of fetal parameters. However, these invasive procedures are not without risk for the fetus. Most erythrocyte antibodies do not cause significant hemolytic disease of the fetus or newborn and various assays are available to assist obstetricians in predicting the likely effect of maternal alloantibodies on fetal erythrocytes. Initially, immunohematologic tests are performed on maternal serum to identify antibodies with a potential for causing hemolytic disease of the fetus or newborn. Antibody concentration is measured by indirect antiglobulin technique titration, or where possible (for anti-D or -c), by quantitation. When used consecutively throughout pregnancy, these tests will reveal a trend that helps to predict the likelihood of hemolytic disease of the fetus or newborn. Functional assays (antibody-dependent cell-mediated cytotoxicity and chemiluminescence) are probably superior to serologic tests for predicting hemolytic disease of the fetus or newborn. Unfortunately, the assays do not reflect accurately the in vivo conditions for a given patient. Knowledge of the immunoglobulin subclass can help to assess the hemolytic potential of maternal antibody, but quantitative measurement of subclasses is still experimental. Diagnostic testing should be approached in a structured manner, commencing with simple serology, followed, in selected cases, by more complex functional assays and indirect fetal tests to identify those fetuses at greatest risk. This approach will enable direct fetal tests to be undertaken only when there is strong suspicion of severe hemolytic disease of the fetus or newborn.

Erythroblastosis, Fetal↗
PubMed1990

Trade-off between gestational age and miscarriage risk of prenatal testing: does it vary according to genetic risk?

It has been generally assumed that as genetic risk rises, so the higher procedure-related miscarriage rates of diagnostic tests done earlier in gestation become more acceptable. To test the hypothesis a decision tree was used, in which the only differences between two tests A and B were that A was carried out earlier in pregnancy and was more likely to cause miscarriage. Over a wide range of rankings for the three outcomes (procedure-related miscarriage of a normal baby, early termination of pregnancy after test A, late termination of pregnancy after test B), the expected utility (relative desirability) of an earlier, but more risky, test was greater at a high (1 in 4) than at a low (1 in 100) genetic risk.

Abortion, Spontaneous↗
PubMed1986

Eugenics and prenatal testing.

Prejudices against people with disabilities, poor people, and immigrants during the nineteenth century generated a science of "race improvement" called eugenics. In the United States, a number of eugenic measures were enacted early in this century, but it was in Nazi Germany that eugenics flourished under the name of racial hygiene (Rassenhygiene). In the guise of furthering the health of the German people, German scientists and physicians initially designed programs of sterilization. Next came euthanasia and finally mass extermination of "lives not worth living." Remembering this history, many German women oppose the new technical developments in prenatal diagnosis because they see them as yet another way to specify what kinds of people are and are not fit to inhabit the world. This paper tries to place the new technologies in the context of eugenics and to point out some of the ways in which the new, supposedly liberating, choices in fact limit women's control over our lives.

Abortion, Induced↗
PubMed1998

Novel mutations in the LAMB3 gene shared by two Japanese unrelated families with Herlitz junctional epidermolysis bullosa, and their application for prenatal testing.

The LAMB3 gene encoding the beta3 chain of laminin 5 is a candidate gene for mutations in the autosomal recessive blistering skin disorder, junctional epidermolysis bullosa. In this study, we performed genetic analyses in two unrelated Japanese families with Herlitz junctional epidermolysis bullosa and identified two novel nonsense mutations in the LAMB3 gene. One of them, Q166X (CAG --> TAG), was found in the maternal allele of family 1 and the paternal allele of family 2. Conversely, the other mutation, W610X (TGG --> TGA), was found in the paternal allele of family 1 and the maternal allele of family 2. Thus, probands of both families were compound heterozygotes for these nonsense mutations. Haplotype analyses with intragenic LAMB3 polymorphisms suggested that both mutations had arisen independently in these two families. Both mutations create a premature translation termination codon predicting truncated beta3 chains that lead to absent expression of laminin 5 in the epidermal basement membrane zone. Based on these results, DNA-based prenatal diagnosis was performed by chorionic villus sampling for subsequent pregnancies in both families. Both fetuses were found to be heterozygous carriers of the W610X mutation together with a normal LAMB3 allele, indicating that they were phenotypically unaffected. These findings expand the repertoire of LAMB3 mutations in junctional epidermolysis bullosa, and emphasize the notion that premature termination codons in both alleles of the laminin 5 genes result in Herlitz junctional epidermolysis bullosa.

Base Sequence↗
PubMed1988

Wide variation in maternal serum alpha-fetoprotein reports in one metropolitan area: concerns for the quality of prenatal testing.

The variation in reported laboratory values, medians, and confounding variables used in the interpretation of alpha-fetoprotein (AFP) values from 14 laboratories servicing the Detroit-Metropolitan area was assessed by reviewing the laboratory report forms. The wide variation found in reported values, medians, and use of correction factors makes interpretation of results difficult and inaccurate. The need for large data bases for continuous correction of medians, uniform use of correction factors, and clinical decision making is emphasized.

Black People↗
PubMed1997

Deficiency of dihydrolipoamide dehydrogenase due to two mutant alleles (E340K and G101del). Analysis of a family and prenatal testing.

A male child with metabolic acidosis was diagnosed as having dihydrolipoamide dehydrogenase (E3) deficiency. E3 activity of the proband's cultured fibroblasts and blood lymphocytes was 3-9% of normal, while in the parent's lymphocytes it was about 60% of normal. The proband's pyruvate dehydrogenase complex (PDC) and the alpha-ketoglutarate dehydrogenase complex activities from cultured skin fibroblasts were 12% and 6% of normal, respectively. PDC activity in the parents cultured fibroblasts was 25-31% of normal. Western and Northern blot analyses showed similar quantities of E3 protein and mRNA in cultured fibroblasts from the proband and his parents. DNA sequencing of cloned full-length E3 cDNAs, from the proband and the parents, showed two mutations on different alleles of proband were inherited from the parents. One mutation is a three nucleotide (AGG) deletion, from the mother, resulting in deletion of Gly101 in the FAD binding domain. The other mutation is a nucleotide substitution (G to A), from the father, leading to substitution of Lys for Glu340 in the central domain. The same deletion mutation was found in E3 cDNA from a chorionic villus sample and cultured fibroblasts obtained from the mother's subsequent offspring. This finding illustrates the possibility of successful prenatal diagnosis of E3 deficiency utilizing mutations characterized prior to initiation of pregnancy.

Acidosis↗
PubMed1988

Prenatal testing for Duchenne and Becker muscular dystrophy.

DNA studies were undertaken following 53 requests from pregnant women at risk for Duchenne and Becker muscular dystrophy, including 32 in whom there was only 1 affected individual in the family (sporadic cases). The DNA restriction fragment length polymorphisms were informative in 51 of the 53 cases. In 10 of 25 pregnancies with male fetuses the risk to the fetus was reduced to 5% or less. Referral of possible carriers before onset of pregnancy is strongly advisable on both medical and economic grounds. The banking of DNA from affected individuals for future use in the estimation of risks to their relatives should be encouraged.

Carrier State↗
PubMed2006

Women's interpretation of an abnormal result on measurement of fetal nuchal translucency and maternal serum screening for prenatal testing of Down syndrome.

OBJECTIVE: To assess the effects of sociodemographic and health-provider factors on women's understanding of abnormal results on measurement of nuchal translucency (NT) and maternal serum screening (MSS), 18 months after the implementation of a policy aimed at increasing women's awareness regarding MSS. METHODS: A representative sample of women (n = 734) who gave birth in Parisian maternity units in 1999 were asked about their understanding of an abnormal result on MSS and NT. We assessed the effects of sociodemographic and health-provider factors on the probability of women interpreting an abnormal result correctly, misinterpreting it as a definitive diagnosis, or declaring that they did not know how to interpret the result. Response rate was 92% and the analyses included multinomial models. RESULTS: For both MSS and NT measurement, the majority of women interpreted an abnormal result correctly. However, there were substantial sociodemographic differences in the probability of women interpreting an abnormal result correctly, and more so in the probability of their declaring not to know how to interpret the result. The probability of correct interpretations was substantially higher, and that of declaring not to know how to interpret the result substantially lower, for MSS than NT measurement. However, for several sociodemographic groups, the proportion of women who misinterpreted an abnormal result on screening as indicative of a definitive diagnosis was also higher for MSS as compared with NT measurement. CONCLUSIONS: These findings underscore the need for additional efforts, along with alternative strategies, to inform women about the implications of prenatal screening, particularly in the case of measurement of NT.

Adult↗