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PubMed1993

Prenatal testing in a fetus at risk for autosomal dominant polycystic kidney disease and autosomal recessive junctional epidermolysis bullosa with pyloric atresia.

Amniocentesis and fetal skin biopsies were performed at 18 weeks of gestation in a fetus at risk for autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive junctional epidermolysis bullosa (EBJ) with pyloric atresia. A previous son of the couple under investigation had died at 3 months of EBJ. The mother of the propositus has ADPKD. Genetic linkage studies were carried out in 11 relatives (4 with ADPKD), and on fetal DNA obtained from cultured amniocytes, using 8 flanking DNA markers tightly linked to the PKD1 locus on chromosome 16p, and a DNA marker linked to another putative ADPKD locus on chromosome 2p. The linkage results indicated that the fetus had not inherited the ADPKD chromosome from the affected mother, with a diagnostic accuracy of > 99%. Ultrastructural and immunohistochemical analyses of multiple fetal skin biopsies showed no EBJ-associated abnormalities. Thus, combining recent morphological and molecular diagnostic methods, we could show that the fetus was free from both diseases. After 40 weeks of gestation, a normal male infant was delivered.

Adult↗
PubMed1989

Branching enzyme activity of cultured amniocytes and chorionic villi: prenatal testing for type IV glycogen storage disease.

Although type IV glycogen storage disease (Andersen disease; McKusick 23250) is considered to be a rare, autosomally recessive disorder, of the more than 600 patients with glycogenosis identified in our laboratory by enzymatic assays, 6% have been shown to be deficient in the glycogen branching enzyme. Most of the 38 patients with type IV glycogen storage disease who are known to us have succumbed at a very early age, with the exception of one male teenager, an apparently healthy 7-year-old male, and several 5-year-old patients. Fourteen pregnancies at risk for branching enzyme deficiency have been monitored using cultured amniotic fluid cells, and four additional pregnancies have been screened using cultured chorionic villi. Essentially no branching enzyme activity was detectable in eight samples (amniocytes); activities within the control range were found in five samples (three amniocyte and two chorionic villi samples); and five samples appeared to have been derived from carriers. In two of the cases lacking branching enzyme activity, in which the pregnancies were terminated and fibroblasts were successfully cultured from the aborted fetuses, no branching enzyme activity was found. Another fetus, which was predicted by antenatal assay to be affected, was carried to term. Skin fibroblasts from this baby were deficient in branching enzyme. Pregnancies at risk for glycogen storage disease due to the deficiency of branching enzyme can be successfully monitored using either cultured chorionic villi or amniocytes.

1,4-alpha-Glucan Branching Enzyme↗
PubMed1996

The effects of ethnicity, education and an informational video on pregnant women's knowledge and decisions about a prenatal diagnostic screening test.

Prenatal screening for genetic disease and developmental disabilities is rapidly becoming a routine part of the management of low-risk pregnancies. Yet research on how to best inform pregnant women about these tests and their special ethical entailments remains sparse. We asked 130 low-risk pregnant women of diverse ethnic and social class backgrounds a series of questions about a prenatal test they had been offered within the previous 3 months. All had been given an informational booklet about the test at the time it was offered; about half also saw a video. We found that neither group of women retained much of the information they had received about the prenatal screening but that those who saw the video remembered more. Information-retention also varied significantly by ethnicity and level of education.

Adolescent↗
PubMed1994

A cost-effectiveness analysis of amniocentesis and chorionic villus sampling for prenatal genetic testing.

Amniocentesis and chorionic villus sampling are tests for the prenatal diagnosis of cytogenetic abnormalities. We calculated the incremental costs per abnormal birth averted, and the incremental costs per quality-adjusted outcome, of amniocentesis and chorionic villus sampling performed for the indication of maternal age. Probabilities were obtained from the literature, and direct medical costs from hospital charges deflated to reflect aggregated contracted care reimbursements. Utilities were used to quality-adjust prenatal testing outcomes. Based on costs per abnormal birth averted, at all maternal ages from 30 to 43 years, amniocentesis was more cost-effective than chorionic villus sampling; at ages 44 and 45, chorionic villus sampling was more cost-effective. However, if the anxiety reduction provided by first-trimester diagnosis was equivalent to a 0.2% risk of an abnormal child, chorionic villus sampling was more cost-effective than amniocentesis at all maternal ages. Based on data from the 1988 United States natality cohort, the current policy of testing women aged 35 and older would cost $103,329 and $111,184 per abnormal birth averted for amniocentesis and chorionic villus sampling, respectively. Testing women aged 30 and older would almost double these costs. For either prenatal test, targeting high risk women for testing, and striving for utilization rates of 50% or higher, appeared to be the most cost-effective policy.

Adult↗
PubMed1991

Presymptomatic, prenatal, and exclusion testing for Huntington disease using seven closely linked DNA markers.

Presymptomatic, testing, prenatal diagnosis, or exclusion testing are now available for persons at risk for Huntington disease. These tests will reduce uncertainty, assist in life planning, and prevent the birth of potentially affected children. We present the results of presymptomatic tests for 37 applicants including two prenatal and one exclusion test in 23 families. We initially used the markers G8, H5.52, F5.53, and pTV20 (D4S10), p8 (D4S62), and pRB1.6 (D4S81) and extended the informativity of the test at a later stage with the markers pKP1.65, C4H, S1.5 (D4S43), 674 (D4S95), 157.9 (D4S111), and YNZ32 (D4S125). Applicants with an unsuitable family structure were not admitted to the test. Of the 37 applicants, 33 were informative. In our hands the most efficient strategy is first to use the markers H5.52 (D4S10), pRB1.6 (D4S81), 674 (D4S95), pKP1.65 (D4S43), 157.9 (D4S111), YNZ32 (D4S125), and 252.3 (D4S115). The overall informativity in our data set was 84% and in the most recent test we achieved a 90-95% informativity. The other markers are used only when the first set is not informative.

DNA↗
PubMed2003

Disability rights critique of prenatal genetic testing: reflections and recommendations.

Using prenatal tests to prevent the birth of babies with disabilities seems to be self-evidently good to many people. Even if the testing will not help bring a healthy baby to term this time, it gives prospective parents a chance to try again to conceive. To others, however, prenatal testing looks rather different. If one thinks about the history of our society's treatment of people with disabilities, it is not hard to see why people identified with the disability rights movement might regard such testing as dangerous. For the members of this movement, living with disabling traits need not be detrimental to an individual's prospects of leading a worthwhile life, or to the families in which they grow up, or to society at large. Although the movement has no one position on prenatal diagnosis, many of its adherents believe that public support for prenatal diagnosis and abortion based on disability contravenes the movement's basic philosophy and goals.

Abortion, Eugenic↗
PubMed2002

Postpartum Chlamydia trachomatis and Neisseria gonorrhoeae infections.

OBJECTIVE: The purpose of this study was to investigate Chlamydia trachomatis and Neisseria gonorrhoeae infections that are diagnosed during the postpartum period (defined as the 3 months after delivery). STUDY DESIGN: This was a retrospective cohort study of women delivered of infants at >or=28 weeks of gestation at an urban hospital from 1992 through 1998, including each woman's first delivery during this period. Postpartum C trachomatis and N gonorrhoeae testing were routine. Data were extracted from an electronic medical record system. RESULTS: Of 13,086 women with eligible deliveries, 7258 women (55.5%) underwent postpartum C trachomatis tests; 191 of those women (2.6%) had positive test results. Similarly, 7148 women (54.6%) underwent postpartum N gonorrhoeae tests; 95 of those women (1.3%) had positive test results. Most women with positive postpartum tests had prenatal testing (182/191 with C trachomatis; 94/95 with N gonorrhoeae ), and the last prenatal test results were usually negative (153/182 women with negative prenatal C trachomatis testing; 91/94 women with negative prenatal N gonorrhoeae testing). CONCLUSION: Substantial rates of C trachomatis and N gonorrhoeae were found in postpartum women, most of whom had negative results on the last prenatal test.

Chlamydia Infections↗
PubMed2006

HIV testing among U.S. women during prenatal care: findings from the 2002 National Survey of Family Growth.

OBJECTIVES: To measure progress toward the US Public Health Service recommended goal that HIV screening be part of the routine battery of prenatal tests for all pregnant women, using data from a nationally-representative reproductive health survey. METHODS: Data from the 2002 National Survey of Family Growth (NSFG) measure self-reported prenatal HIV testing for all women who had a completed pregnancy in the 12 months before interview. We estimated the percentage with a prenatal test for categories defined by major socio-economic groups, HIV risk, knowledge of HIV treatment, and access to health care. RESULTS: Sixty-nine percent of 748 recently pregnant women reported receiving a prenatal HIV test. The percentage tested was significantly higher for women with incomes below 300% of the poverty level (76%) and women who reported some degree of HIV risk (82%), suggesting that prenatal care providers offer and encourage testing based on perceived risk, even though universal HIV screening is recommended. Testing was also higher among women with knowledge of interventions to prevent perinatal HIV transmission (74%), suggesting that more public information on these treatments might be helpful. CONCLUSIONS: A national estimate indicates that nearly one in 3 recently pregnant women reported they were not tested for HIV during prenatal care. Studies showing that prenatal testing for other infectious diseases can approach 100% suggest that a similar level of testing is attainable for perinatal HIV screening, particularly if it is incorporated into the routine package of prenatal tests and procedures offered to all pregnant women.

Female↗
PubMed1999

Early pregnancy prenatal diagnostic testing: risks associated with chorionic villus sampling and early amniocentesis and screening options.

Routine amniocentesis is an established test for the prenatal diagnosis of chromosome abnormalities and many single-gene conditions. Chorionic villus sampling and early amniocentesis, which are available in some centers, enable families to receive prenatal test results earlier in the pregnancy. There are concerns regarding the safety of early pregnancy testing because of increased risks for pregnancy loss and possible risks for birth defects. The use of first trimester testing has changed because of these concerns, and alternative methods of screening pregnancies at risk for a chromosome abnormality are being investigated.

Adult↗
PubMed1991

Attitudes toward presymptomatic testing and prenatal diagnosis for adrenoleukodystrophy among affected families.

One hundred and thirty-six individuals with a family history of X-linked adrenoleukodystrophy (ALD) or adrenomyeloneuropathy (AMN) were given a questionnaire surveying their sociodemographic characteristics, knowledge of X-linked inheritance, and attitudes toward prenatal, presymptomatic, and carrier testing. Of the respondents, 68% indicated that they would use prenatal testing. Of these, 57.1% would terminate a pregnancy of a male fetus hemizygous for the ALD gene and 13.5% would reportedly choose to terminate a heterozygote female fetus. Presymptomatic testing would be used by 88.7% of respondents to test at-risk sons and carrier testing would reportedly be used by 95.4% of respondents to test their at-risk daughters. Respondents correctly answered an average of 61% of the questions testing understanding of X-linked inheritance. This indicates a strong interest in prenatal, presymptomatic, and carrier testing and a need for genetic counselors to provide information about these available tests and X-linked inheritance.

Adrenoleukodystrophy↗
PubMed2001

Prenatal diagnosis of prelingual deafness: carrier testing and prenatal diagnosis of the common GJB2 35delG mutation.

Mutations in the gene encoding the gap-junction protein connexin 26 (GJB2) on chromosome 13q11 (DFNB1 locus) have been shown as a major contributor to prelingual, non-syndromic, autosomal recessive deafness in Caucasian populations. One specific mutation, 35delG, has accounted for the majority of the mutations detected in the GJB2 gene and is one of the most frequent disease mutations identified to date. We have previously reported a carrier frequency of 35delG of 3.5% in the Greek population, and the 35delG mutation has been detected in one-third of the alleles in Greek patients with sensorineural, prelingual, non-syndromic deafness. The description of this common mutation has opened the way to prenatal diagnosis of prelingual deafness, and we here describe our experience with 29 couples requesting counseling, carrier testing and prenatal diagnosis of DFNB1 deafness.

Chromosomes, Human, Pair 13↗