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PubMedDate not supplied

Prenatal paternity testing using DNA extracted from coelomic cells.

OBJECTIVE: Prenatal paternity testing can be performed following invasive prenatal diagnosis with amniocentesis or CVS. Coelocentesis is a new technique that could be used as an alternative method early in the first trimester of pregnancy. The aim of this study is to investigate the potential use of the DNA extracted from coelomic cells in the prenatal paternity testing. METHODS: Coelocentesis was performed in 20 singleton pregnancies at 7-9 weeks of gestation immediately before surgical termination of pregnancy. Chorionic cells from the placenta and blood cells from the parents were processed by the standard salt extraction method. Two loci, TPO and Apo B, were used for paternity testing in the DNA of coelomic cells, chorionic cells and blood cells. RESULTS: There was concordance in the results obtained from the coelomic cells and chorionic villi. In two cases only the polymorphisms used were not conclusively informative for paternity exclusion. CONCLUSIONS: Coelomic cells are potentially useful for early paternity testing.

Apolipoproteins B↗
PubMed2003

Social and familial context of prenatal genetic testing decisions: are there racial/ethnic differences?

The purpose of this cross-sectional study of 999 socioeconomically and racially/ethnically diverse pregnant women was to explore prenatal genetic testing attitudes and beliefs and the role of external influences. Surveys in English, Spanish, and Chinese included questions regarding the value of testing, pregnancy, and motherhood; the acceptability of Down syndrome in the subject's community; and the role of social and cultural influences in prenatal testing decisions. We analyzed racial/ethnic differences in all attitudinal and external influence variables, controlling for age, relationship status, and socioeconomic status. We found statistically significant racial/ethnic group differences in familiarity with an individual with Down syndrome and in 10 of 12 attitude, belief, and external influence variables, even after controlling for other sociodemographic characteristics. We also observed substantial variation within racial/ethnic groups for each of these measures. Despite the statistically significant group differences observed, R(2) values for all multivariate models were modest and response distributions overlapped substantially. Social and familial contexts for prenatal testing decisions differ among racial/ethnic groups even after accounting for age, marital status, and other socioeconomic factors. However, substantial variation within groups and overlap between groups suggest that racial/ethnic differences play a small role in the social and familial context of prenatal genetic testing decisions.

Attitude to Health↗
PubMed2004

Genetic prenatal RET testing and pregnancy management of multiple endocrine neoplasia Type II A (MEN2A): a case report.

Multiple endocrine neoplasia 2A (MEN 2A) is an inherited dominant syndrome characterised by medullary thyroid carcinoma, adrenal pheochromocytoma and hyperparathyroidism due to specific RET proto-oncogene mutations. Fertile MEN 2A women are at risk of complicated pregnancy because of unrecognised pheochromocytoma and transmission of RET mutation to the progeny. This condition may cause psychological distress in affected pregnant patients and their families. Here we describe the genetic prenatal testing, the pregnancy management and obstetric outcome in a MEN 2A patient with a right side adrenal hyperplasia and elevated calcitonin levels, a condition suspicious for possible recurrence of pheochromocytoma. We confirm that maternal or fetal complications are rare when MEN 2A diagnosis is made before pregnancy and an accurate monitoring is instituted. Furthermore, our results indicate that prenatal testing for RET mutations is highly recommended in making decisions and assuring parents on the lifelong risk of tumors. This will avoid the psychological distress that can further complicate the pregnancy of affected women.

Adrenal Hyperplasia, Congenital↗
PubMed1995

The prenatal exclusion test for Huntington's disease: experience in the west of Scotland, 1986-1993.

Information about the prenatal exclusion test for Huntington's disease (HD) has been given to an unselected series of couples who attended the genetic counselling clinic from 1986 onwards. Ten couples underwent 13 prenatal tests during this period with expressed intention of stopping a pregnancy if the result indicated a high risk (almost 50%) that the fetus carried the HD gene. Nine fetuses at nearly 50% risk of carrying the HD gene were identified but only six such pregnancies were terminated. In each of three high risk pregnancies which continued, the mother made a "final hour" decision not to undergo the scheduled, first trimester termination. In our experience, late reversal of a previous decision to undergo first trimester pregnancy termination for a genetic indication is uniquely frequent among couples who have undergone the prenatal exclusion test for HD.

Adult↗
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↗
PubMed2003

Molecular genetic testing for prenatal diagnosis.

In the past few decades, enormous progress has been made in the field of prenatal molecular genetic testing. Based on the inheritance patterns of the disease and type of mutation, prenatal diagnosis is possible using direct or indirect methods of detection. Although direct mutation analysis is highly accurate, accuracy of indirect mutation analysis depends on the distance of the DNA marker to the disease locus. In the past decade, the discovery of new concepts--such as atypical inheritance patterns due to UPD and imprinting and triplet repeat disorders--have helped to increase understanding of the molecular basis of these unusual genetic disorders. Prenatal diagnosis using a single cell from a blastomere is rapidly becoming routine in clinical practice. Noninvasive procedures to obtain fetal DNA for molecular testing also are progressing very rapidly. With the completion of the genome project, resources now are available for developing new technologies, such as microarrays (DNA chips), for accurate, simultaneous, mutation detection. The next few decades hold the promise of many more advances in genetic testing, drug discovery, and therapy.

Adult↗
PubMed1980

Prenatal diagnosis of metachromatic leukodystrophy in a family with pseudo arylsulfatase A deficiency by the cerebroside sulfate loading test.

Prenatal diagnosis was requested by a family at risk for metachromatic leukodystrophy (MLD). An examination of the family leukocyte arylsulfatase A profile revealed that the mother had pseudo arylsulfatase A deficiency. Cultured amniotic fluid cells were deficient in arylsulfatase A, so two possibilities were indicated: the fetus was affected with MLD or had the pseudodeficiency phenotype. The only known biochemical test to differentiate the two enzyme deficient phenotypes is cerebroside sulfate loading of growing fibroblasts. The pseudodeficient cells hydrolyze the incorporated sulfatide as efficiently as control cells, whereas MLD cells show no hydrolysis. Application of this test to the at risk cultured amniotic fluid cells resulted in appreciable uptake of the sulfolipid, but no hydrolysis. Control amniotic fluid cell cultures hydrolyzed 82 to 95% of the incorporated sulfatide. Therefore, an affected fetus was indicated. Fibroblasts derived from the aborted fetus showed a deficiency of arylsulfatase A and a similar inability to hydrolyze cerebroside sulfate in the loading test. The loading technique allowed the prenatal diagnosis of MLD when the arylsulfatase A analysis was equivocal.

Amniotic Fluid↗
PubMed1980

Properties of fetal and adult red blood cell arginase: a possible prenatal diagnostic test for arginase deficiency.

Prenatal diagnosis of inborn errors of metabolism has been possible only if the enzyme affected is expressed in amniotic fluid cells grown in culture. Arginase is essentially undetectable in normal human fibroblasts, amniotic fluid, and amniotic fluid cells but is present in high amounts in red blood cells. It is absent in the red blood cells of patients with liver arginase deficiency. The properties of the enzyme in the red cells of healthy children and adults were compared to those of the enzyme obtained from cord blood red cells of 13--20-week fetuses obtained at hysterotomy. The activities, heavy metal requirements, heat stability, pH optimum, kinetic properties, and reaction with anti-arginase antibody were examined. Both enzyme species were either identical or substantially similar by all criteria. The adult and fetal enzymes are, therefore, probably determined by the same structural gene. Fetal red cells obtained during amniocentesis and amnioscopy should then be a suitable tissue to use to make the prenatal diagnosis of arginase deficiency.

Arginase↗
PubMed1996

Prenatal paternity testing with deoxyribonucleic acid techniques.

OBJECTIVES: Our purpose was to determine the feasibility and optimal techniques for prenatal paternity testing. STUDY DESIGN: Since January 1989 we have offered prenatal paternity testing by deoxyribonucleic acid testing. We analyzed the ability to complete the testing and the time required to complete the testing and developed polymerase chain reaction-based tests to speed test results. RESULTS: Before April 1990 only five of nine cases could be completed. Since that time 28 consecutive cases were successfully completed before delivery. Introduction of polymerase chain reaction-based testing has allowed us to perform testing on uncultured chorionic villi and to derive results within 3 weeks. CONCLUSION: Analysis of uncultured chorionic villi allows prenatal paternity testing to be completed within the first trimester of pregnancy. Prenatal paternity testing can also be performed on cultured amniocytes and chorionic villi.

Abortion, Therapeutic↗
PubMed2004

Utilization of prenatal genetic testing by Israeli Moslem women: a national survey.

The number of prenatal genetic tests that are being offered to women is constantly increasing. However, there is little national data as to who is performing the tests and the reasons for doing or not doing so. The aim of the study was to evaluate the proportion of Israeli Moslem women who perform the various prenatal genetic tests and the factors affecting the performance of these tests. A 2-day survey was conducted in all the maternity departments in Israel based on a structured interview. Of the 242 women interviewed, 74.2% underwent the triple test (TT), 15.8% of the women older than 35 years who were eligible to take the test free of charge underwent amniocentesis and only 1.5% underwent fragile-X (FX) carrier testing which costs 100 dollars privately. In the stepwise regression analysis, having fewer children and having had a higher education affected the performance of the TT. None of the sociodemographic factors were associated with the performance of amniocentesis or FX carrier testing, but the sample sizes were small. The main reason reported by the women for not performing the TT and FX carrier testing was not being referred for testing. The main reason for not performing amniocentesis was that they chose not to perform the test (the majority of these women were religious or ultrareligious). Consideration should be given to providing first-trimester prenatal diagnosis when termination of pregnancy in the Moslem population is more acceptable. In addition, consideration should be given to including state-subsidized FX testing as there is a low rate of FX testing partly due to the cost. Primary care givers should be educated about the importance of prenatal genetic testing.

Adult↗
PubMed2006

The moral implications of prenatal genetic testing.

The advance of medical technology now permits many genetic tests to be administered to a fetus in the womb. The goal of this testing is to determine the potential for genetically based disorders and disabilities. The use of these tests has major implications on the decision of a parent to abort a child based on what information they find in the prospective child's genes. Advocates of prenatal testing argue that it enables the families of these prospective children to make an informed decision when faced with the possibility of disability. I argue that this choice is drastically limited by social coercion through a discriminatory and stereotyped perception of the disabled community. Permitting an uncontrolled barrage of prenatal genetic tests will further promote the stereotype of a disabled life, and thus hinders our societal goal to recognise and promote equality and individuality. Which disabilities to test for, or what genes to search for, is a judgement that should be made only through extensive consultation with members of the disabled community, including individuals who have suffered from or who have been directly associated with the disability which is said to be tested.

Abortion, Eugenic↗
PubMed2001

Barriers to universal prenatal HIV testing in 4 US locations in 1997.

OBJECTIVES: We determined rates of prenatal HIV testing and investigated barriers to testing. METHODS: We surveyed 1362 representative parturient women from 7 hospitals in 4 locations of the United States. RESULTS: Overall, 89.9% of women reported being offered HIV testing and 69.6% reported being tested. Proportions of women not offered testing differed by location (range = 5.2%-16.3%), as did proportions not tested (range = 12.2%-54.4%). Among women who perceived that their clinicians had not recommended testing, 41.7% were tested, compared with 92.8% of women who perceived a strong recommendation (P < .05). Private insurance for prenatal care was also associated with not being tested. Women gave multiple reasons for not being tested, most commonly not being at risk, having been tested recently, and the test's not being offered or recommended, cited by 55.3%, 39.1% and 11.1% of women, respectively. CONCLUSIONS: Although most parturient women were offered a prenatal HIV test and got tested, testing proportions did not reach national goals and differed significantly by location and payment status. Concern about testing consequences was not a major barrier. Perception of clinicians' recommendations strongly influenced testing. Changing provider practices will be essential to implementing universal prenatal HIV testing.

AIDS Serodiagnosis↗
PubMed2002

Issues surrounding prenatal genetic testing for achondroplasia.

OBJECTIVES: Mutations in the gene encoding fibroblast growth factor receptor 3 cause achondroplasia, the most prevalent form of dwarfism. Since the discovery of the mutations and gene in 1994, commercial testing has been available for use in prenatal diagnosis. This study sought to determine the awareness of, interest in and use of prenatal genetic testing for achondroplasia. METHODS: Surveys were collected from both individuals affected with achondroplasia (n = 189) and their average statured relatives (n = 136). RESULTS: The majority of participants were aware of the prenatal genetic testing at the time they were surveyed, but less than 10% had actually used the testing. Affected individuals were much more interested in using the testing if they became pregnant (62%) than were their relatives (28%). The groups were remarkably similar in their interest in using the testing to identify the lethal, homozygous form of achondroplasia and in their unwillingness to consider termination of pregnancies based on a diagnosis of either achondroplasia or average stature. Affected status and perception of the condition were correlated with the importance placed on knowing the prenatal diagnoses of achondroplasia and average stature. Views on abortion were highly correlated with all aspects of interest in prenatal diagnosis for achondroplasia. CONCLUSION: These results elucidate the role of selected attitudes and beliefs that contribute to reproductive decision making about achondroplasia. Furthermore, the findings provide insights into education and counseling issues for families and health care practitioners.

Abortion, Induced↗
PubMed2003

Prenatal HIV tests. Routine testing or informed choice?

OBJECTIVE: To examine how prenatal care providers responded to a new provincial policy of offering HIV testing to all prenatal patients, and to determine factors associated with self-reported high testing rates. DESIGN: Cross-sectional mailed survey. SETTING: Outpatient practices in three Ontario health-planning regions. PARTICIPANTS: Prenatal care providers: 784 family physicians, 200 obstetricians, and 103 midwives were sent questionnaires and were eligible to participate. MAIN OUTCOME MEASURES: Self-reported testing of 80% or more prenatal patients ("high testers") and associated practice characteristics, attitudes, and counseling practices. RESULTS: Response rate was 57% (622/1087): 43% of respondents were high testers. Family physicians were most likely and midwives least likely to be high testers. High testers tended to report that they had adequate knowledge of HIV testing, that HIV risk among their patients warranted testing all of them, and that testing should be routine. Encouraging women to test and not providing written information or choice were independently associated with high testing rates. CONCLUSION: Strongest predictors of high prenatal HIV testing rates were attitudes and practices that favoured a routine approach to testing and that placed little emphasis on informed consent.

AIDS Serodiagnosis↗
PubMed2005

Disparities in prenatal HIV testing: evidence for improving implementation of CDC screening guidelines.

OBJECTIVES: We investigated the within-group and between-group variation in prenatal HIV testing in a sample of low-income pregnant and recently postpartum women. METHODS: Multivariable linear regression was used to estimate proportional differences in prenatal HIV testing for the total sample and stratified by race. RESULTS: In bivariate analyses, race and site of care jointly affected the probability of being tested. Hispanic women had the highest probability of being tested in public practice settings but relative to white women, black women had a higher probability of being tested in public and private practice settings. Predictors of prenatal HIV testing differed by race. Receiving prenatal care in a community health center or hospital outpatient clinic increased the probability of testing for Hispanics. Being a recent victim of intimate partner violence was associated with less frequent testing for blacks. Positive beliefs about HIV screening, while significant for blacks and Hispanics, was the only factor associated with testing for whites. CONCLUSION: Our data suggest that racial biases may be influencing providers' approach to testing, rather than CDC's 2001 guidelines for HIV screening of pregnant women. Study findings are being used to modify social marketing campaigns and improve provider trainings regarding prenatal HIV testing.

Adolescent↗
PubMed2004

Social and ethnic inequalities in the offer and uptake of prenatal screening and diagnosis in the UK: a systematic review.

OBJECTIVE: To review studies addressing the question of whether there are social inequalities in either the offer or the uptake of prenatal testing in the UK. METHOD: Systematic review of studies assessing the offer or uptake of prenatal screening or diagnosis according to social class or ethnic origin. Electronic databases were searched using a strategy developed for a review of inequalities in access to maternity care supplemented with terms specific to prenatal testing. Further papers were identified from reference lists, citation searches and key organizations. RESULTS: From over 600 identified papers, 41 were potentially relevant. Twenty met the inclusion criteria. The studies included covered screening and/or diagnosis for Down's syndrome, neural tube defects, haemoglobin disorders and HIV. Many studies were limited by small numbers or poor reporting of data and analysis. Six studies reported data on prenatal testing according to women's social class or educational level. None found any significant social inequalities in testing. Some studies suggested that women of South Asian origin might be up to 70% less likely to receive prenatal testing for haemoglobin disorders and Down's syndrome than White women. A small number of studies suggested that South Asian women might be less likely to be offered testing. CONCLUSIONS: This review provides some evidence of ethnic inequalities in access to prenatal testing. Further research is required to improve our understanding of why testing may not be offered, the reasons for failure to take up testing when offered, and to identify whether there are other social inequalities in access to prenatal testing.

Down Syndrome↗
PubMed2006

Medical records and women's self-report are not reliable sources for determining whether prenatal HIV testing was done.

OBJECTIVE: To determine whether medical records and the self-report of a postpartum patient provide reliable information about whether or not prenatal HIV testing has been done. METHODS: Women on the postpartum wards at three Toronto teaching hospitals who gave informed consent were included in the study. The presence or absence of prenatal HIV testing was determined by interviews with postpartum women, review of hospital charts, and search of the Public Health Provincial Laboratory and Prenatal Testing databases. RESULTS: Two hundred ninety-nine women were enrolled. All had had at least one prenatal visit, and 92% had copies of prenatal records in their hospital charts. Health records and patient reports were both unreliable for determining who had and who had not had HIV testing. HIV status was documented on 55% of the charts; on 46% it was noted that testing was performed, and on 46% there was documentation of pre& or post&test counselling. In interviews, 73% of the women reported having an HIV test during this pregnancy. Using the laboratory databases as the gold standard of whether testing had truly been done, medical record sensitivity and specificity were 65% and 62% respectively, and self-report sensitivity and specificity were 87% and 52% respectively. Using medical records resulted in an underestimation and self-reports an overestimation of the number of women who had been tested. CONCLUSIONS: Both medical records and patient self-report are unreliable at the time of labour and delivery for determining whether or not a woman has been tested for HIV in pregnancy. Clinical and public health decisions may therefore be compromised by a lack of accurate testing information at the bedside.

Adolescent↗
PubMed1997

The future of prenatal HIV testing.

The use of zidovudine for the prevention of mother-to-child transmission of human immunodeficiency virus, as well as continuing advances in our understanding of the determinants of that transmission, and of potential new avenues of intervention augur ever more efficient perinatal prevention strategies in the near future. In this paper the evolving role of prenatal testing in an era of ever more successful interventions will be discussed. At least four factors will be critical in determining what that role will be: clinical, legal, ethical and economic. Each of these are parochial, i.e. they will feature in eradication strategies in different ways in different geographical, economic and cultural settings. An understanding of these factors will help to suggest what course testing policy should take and to determine the role clinicians must play if any testing policy is to succeed in contributing to the end of pediatric HIV disease.

AIDS Serodiagnosis↗