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PubMed2004

Prenatal HIV testing and antiretroviral prophylaxis at an urban hospital--Atlanta, Georgia, 1997-2000.

In 1994, the U.S. Public Health Service (USPHS) recommended the use of zidovudine (ZDV) to reduce perinatal human immunodeficiency virus (HIV) transmission; in 1995, USPHS recommended universal prenatal HIV counseling and voluntary testing. Widespread implementation of these recommendations, together with increased use of antiretroviral therapy (ART) and scheduled cesarean delivery, has resulted in substantial declines in perinatal HIV transmission. However, perinatal HIV transmission continues to occur. To identify missed prevention opportunities, CDC analyzed the incidence of perinatal HIV infection among a cohort of HIV-exposed infants born during 1997-2000 at Grady Memorial Hospital (GMH) in Atlanta, Georgia. This report describes the results of that analysis and underscores the challenges to universal prevention of infant HIV infections. Efforts to reduce perinatal HIV transmission should focus on increasing prenatal care rates, promoting adherence to recommended treatment regimens during pregnancy, and increasing prenatal HIV testing, particularly in areas where missed opportunities for prevention of perinatal HIV transmission persist.

AIDS Serodiagnosis↗
PubMed2006

Normal obstetric ultrasound reduces the risk of Down syndrome in fetuses of older mothers.

The objective of this study is to determine whether a normal fetal morphology ultrasound scan in women older than 35 years reduces the risk of aneuploidy. We reviewed the results of amniocentesis and second trimester sonogram in all women older than 35 years from 1991 to 1995. None had prior screening. We excluded fetuses with structural anomalies. We determined the sensitivity and specificity of minor markers in detecting Down syndrome and also determined the reduction in risk of a normal sonogram. Among the 2060 women older than 35 years giving birth during the study period, 16 (0.78%) delivered an infant with Down syndrome. Of the 16 fetuses, two had no prenatal testing or ultrasound, two had invasive testing but no second trimester sonogram, five had a normal sonogram and seven had one or more sonographic markers of Down syndrome. At least 17% of women older than 35 years did not participate in prenatal testing or ultrasound. Ultrasound detected Down syndrome with a sensitivity of 59% (95% confidence interval: 45-72%), a false-positive rate of 10.6% (9.4-11.8%) and a positive predictor value of 1 in 9. The likelihood of having normal karyotype if the sonogram was normal was 0.46 (0.31-0.61). In women older than 35 years, a normal second trimester sonogram reduces the risk of Down syndrome by more than 50%. At least 17% of women older than 35 years do not participate in prenatal testing or ultrasound.

Adult↗
PubMed1992

The introduction of cystic fibrosis carrier screening into clinical practice: policy considerations.

Routine prenatal testing for cystic fibrosis (CF) should be halted until the detection rate reaches 95 percent. Pilot studies are needed in order to evaluate the feasibility of meeting education, consent, and counseling requirements in order to facilitate informed reproductive decisions by clients and to minimize the potential for confusion, stigmatization, and discrimination. Primary care physicians may not be trained adequately to provide appropriate information, and prenatal visits may not be an ideal setting. The public's interest in carrier testing, prenatal testing, and pregnancy termination is uncertain because CF patients have an increasing median survival, variable disability, and normal intelligence. Even with a goal that limits testing for the purpose of informed reproductive decision making, the considerable cost of screening per case prevented must be considered before it becomes public policy. Until these issues have been clarified, the duty of primary care physicians is to inform patients of the test's availability and to refer interested patients to qualified genetic counselors rather than to provide the test themselves.

Attitude to Health↗
PubMed1993

Prenatal paternity testing with DNA analyses.

Two PCR amplified loci and 3 single locus DNA probes were applied in a paternity case in which a married woman became pregnant after being raped. DNA analysis were performed using samples from the woman, her husband and amniotic fluid cells taken during the 16th week of pregnancy. The combined probability of paternity for her husband was calculated as 0.999997107. The application of PCR analyses and single locus DNA probes were considered to be extremely informative in prenatal paternity testing.

Amniotic Fluid↗
PubMedDate not supplied

[Prenatal diagnosis: an attempt at evaluation of effectiveness and risk based on the experience of one center].

We present the results of prenatal diagnosis in 2241 women carried out in one centre in the period 1985-1994. Indications were cytogenetic in 84% of the cases, of those in 77% it was maternal age 35 years and over. The second most frequent indication was open neural tube defect in a previously born child (7.5%). Abnormal results of prenatal tests in whole material were obtained in 60 cases (2.4%); in 47 cases this was chromosomal aberration. Abnormal result of prenatal test did not necessarily mean selective termination of pregnancy. In 17.5% of chromosomal fetal aberrations pregnancy was continued (it concerned mostly aberrations involving sex chromosomes). The risk of prenatal diagnosis (miscarriage due to the procedure) according to our estimation was between 0.3 and 0.6% of the tested pregnancies. Sociological analysis of the tested group showed clearly that women with better education (secondary and higher level) in Poland have much better access to prenatal diagnosis. Most of the tested woman (72%) considered a prenatal test a sine qua non condition of their procreation.

Adult↗
PubMed1976

"Jumping" satellites in three generations: a warning for paternity tests and prenatal diagnosis.

Prominent intensely fluorescent satellites on one chromosome 22 seem to have been transferred, during gametogenesis of a male carrier of a balanced 10/22 translocation, from the normal 22 to the translocated 22 in his daughter and son, both carriers of the translocation. Prenatal diagnosis was performed in the carrier daughter and in the chromosomally normal female foetus the satellites have jumped back to one normal chromosome 22. The phenomenon is probably due to exchanges between the short arms of chromosome 22 at meiotic pairing in the father and in his daughter. These observations give a warning for caution in the use of marker variants for paternity tests and prenatal diagnosis.

Amniocentesis↗
PubMed1999

Medical genetics on the cleft palate-craniofacial team: understanding parental preference.

OBJECTIVE: This study examined health care professionals' perceptions of parental preferences and preferences of parents of affected children (cleft lip, cleft palate, both, or other craniofacial anomaly) for prenatal testing with respect to oral-facial clefts and craniofacial anomalies. DESIGN: This was a descriptive study assessing and comparing questionnaire responses of two independent groups. PARTICIPANTS: Healthcare professional participants comprised 570 U.S. members of the American Cleft Palate-Craniofacial Association. Parent participants comprised 97 parents of children seen at the University of Pittsburgh Cleft Palate-Craniofacial Center. MAIN OUTCOME MEASURES: A practitioner survey was developed to examine practitioner perception of parental desire for involvement, desire for knowledge, and reaction to learning of a birth defect. A parent survey was developed to correspond with the practitioner survey. RESULTS: Health professionals' perceptions of parental preferences often paralleled parental preference data. However, parental responses were found to be significantly different from practitioner perception of parental preferences on one question reflecting desire for involvement (chi2 = 33.35, df=1, p = .001) and on one question reflecting desire for knowledge (chi2 = 4.82, df = 1, p = .03). For both questions, higher percentages of parents responded that they would want this involvement or information. CONCLUSIONS: Findings are consistent with those reported in other studies of prenatal testing preferences and susceptibility. Results suggest that parents of affected children have a strong desire for information and involvement in prenatal testing and counseling decisions. Parents appear to value preparation in spite of acknowledging anxiety associated with prenatal information.

Anxiety↗
PubMed2004

Uptake of a prenatal screening test: the role of healthcare professionals' attitudes towards the test.

OBJECTIVE: To investigate the association between healthcare professionals' attitudes towards prenatal Down syndrome screening and screening uptake in the women who consult them. METHODS: The attitudes of 71 midwives and 18 obstetricians towards Down syndrome screening and screening uptake in the women who consulted them were assessed at two UK hospitals where uptake rates of Down syndrome screening differed (26 vs 61%). RESULTS: Healthcare professionals based at the hospital with higher screening uptake had more positive attitudes towards Down syndrome screening than healthcare professionals based at the hospital with lower screening uptake (19 vs 17, p = 0.03). Pooling across hospitals, obstetricians had more positive attitudes than midwives (20 vs 17, p = 0.004). In a sub-group of women who discussed screening with one healthcare professional, there was no significant association between individual healthcare professionals' attitudes and screening uptake (Spearman correlation coefficient = 0.13, p = 0.51). CONCLUSION: In this study powered to detect a correlation of 0.5 and over (i.e. a large effect), healthcare professionals' attitudes towards screening were unrelated to uptake of screening in the women consulting them. It remains to be determined if a smaller effect exists. The observed association between healthcare professionals' attitudes and uptake rates by hospitals raises the question of whether healthcare professionals' attitudes might influence systems of care, not just communication with pregnant women.

Attitude of Health Personnel↗
PubMed2004

Introduction of routine HIV testing in prenatal care--Botswana, 2004.

In 2003, approximately 37% of pregnant women in Botswana (2001 population: 1.7 million; approximately 40,000 births per year) were infected with human immunodeficiency virus (HIV). Since 2001, all prenatal clinics in Botswana have offered HIV screening and interventions for prevention of mother-to-child transmission of HIV (PMTCT), which can decrease vertical transmission of HIV from 35%-40% to 5%-10%. Historically, HIV testing in Botswana has been performed after individual pretest counseling, with patients actively choosing whether to be tested (i.e., an "opt-in" approach). In 2003, 52% of pregnant women receiving prenatal care nationwide learned their HIV status. In 2004, to increase use of free national PMTCT and antiretroviral treatment (ARV) programs, Botswana began routine, noncompulsory (i.e., "opt-out") HIV screening in prenatal and other health-care settings. Concerns have been raised that routine testing in Africa might deter women from seeking prenatal care and might result in fewer women returning for their test results and HIV care after testing. To assess the early impact of routine testing on HIV-test acceptance and rates of return for care, the CDC Global AIDS Program and the PMTCT program in Botswana evaluated routine prenatal HIV testing at four clinics in Francistown, the second largest city in Botswana, where HIV prevalence has been > or =40% since 1995. This report describes the results of that assessment, which indicated that, during February-April 2004, the first 3 months of routine testing, 314 (90.5%) of 347 pregnant women were tested for HIV, compared with 381 (75.3%) of 506 women during October 2003-January 2004, the last 4 months of the opt-in testing period (p<0.001). However, many women who were tested never learned their HIV status because of logistical problems or not returning to the clinic. Substantial increases in HIV testing of pregnant women were also observed at the Francistown referral hospital and at prenatal clinics nationwide. These findings highlight the potential public health impact of routine HIV testing with rapid, same-day results for programs seeking to increase the number of persons with access to HIV-prevention and treatment services.

AIDS Serodiagnosis↗
PubMed1977

[Quantitative IgM-testing and prenatal rubella infection (author's transl)].

Cord blood of 686 newborns was tested for IgM-levels in connection with an epidemic occurrance of rubella infection in Bonn and its vicinity. In 17 samples IgM was higher than 30 mg/100 ml and in 102 samples higher than 20 mg/100 ml. In 121 cases the cord blood was examined for rubella antibodies and in 85 children it was also checked for the persistence of rubella antibodies at the end of the first six months of life. No unexpected prenatal rubella infection was found. Two children of this group had clinical and serological criteria for rubella embryopathy at birth. In addition 39 cases of verified rubella infections during pregnancy were investigated. In 13 cases abortion was performed during the first trimenon following a rubella infection; the presence of rubella virus embryotic tissue could be proven in 9 cases. A prenatal rubella infection became apparent by illness of the mother during the pregnancy and/or embryopathy of the newborn in 26 children. In 16 of these children prenatal rubella infection was confirmed by the detection of rubella specific IgM which was associated in all instances with elevated levels of IgM, and/or the persistence of rubella antibodies after the sixth month of life. The remaining 10 children had neither clinical nor serological signs. The mothers of 9 of these children had been ill after the 16th week of pregnancy. In at least 21 cases (81%) of 26 maternal rubella infections during the first trimenon of pregnancy the virus passed the placenta. In 13 cases the pregnancy was interrupted; of the remaining 13, 6 children (46%) had embryopathy.

Abortion, Legal↗
PubMedDate not supplied

Acceptance of HIV testing during prenatal care. Perinatal Guidelines Evaluation Project.

OBJECTIVE: The purpose of this study was to assess the factors associated with acceptance of HIV testing during pregnancy on the part of women receiving prenatal care at public clinics. METHODS: Trained interviewers recruited and interviewed 1,357 women receiving prenatal care at clinics in Florida, Connecticut, and New York City. RESULTS: Eighty-six percent of participants reported having been tested or having signed a consent form to be tested. Acceptance of testing was found to be related to strong beliefs about the benefits of testing, knowledge about vertical transmission, perceived provider endorsement of testing, and social support. Women who declined testing said they did so because they did not perceive themselves to be at risk for HIV (21%) or they faced administrative difficulties (16%) with some aspect of the testing process (for example, scheduling, limited availability of pre-test counselors). CONCLUSIONS: Acceptance rates can be increased when women understand the modes of vertical transmission and the role of medication regimens in preventing transmission; believe that prenatal identification of HIV can promote the health of mother and child; and perceive their providers as strongly endorsing testing. These points can be woven into a brief pre-test counseling message and made a routine component of prenatal care.

AIDS Serodiagnosis↗
PubMed2003

Words matter: nomenclature and communication in perinatal medicine.

The best interests of our patients are served by using language that both supports patient autonomy and is neutral. While it remains a "tentative" pregnancy (ie, before the completion of normal prenatal tests), the term "fetus" should be used. After normal prenatal testing, only in rare situations will the pregnant woman request an abortion. In such cases, it is appropriate that the term "fetal patient" or the lay terms "child" or "baby" be used. To be a "mother," however, one must have borne a child. Our language should support the autonomous views of the pregnant woman. The language proposed is not intended to be rigidly adhered to in all situations but rather is an appropriate starting point after which one needs to be responsive to the position of the pregnant woman. It is important to individualize language to cater to the views of individual patients. It is, however, time for doctors to acknowledge that their language can influence reality, particularly because they are frequently considered experts not only in prenatal diagnosis but also in morality. Doctor's language has a powerful influence over the way patients think.

Communication↗
PubMed1994

[Noninvasive serum test for prenatal detection of Down syndrome, other chromosome abnormalities and open neural tube defects--a prospective study].

Between September 1st 1990 and Juli 31st 1993, 5071 pregnant women were screened prospectively by the "triple-test", including maternal serum alpha-fetoprotein, human chorionic gonadotropin and unconjugated oestriol in order to detect chromosomal anomalies and open neural tube defects. The serum samples were collected in collaboration with the obstetricians of the region of West-Mecklenburg and North-West-Brandenburg. Laboratory testing using radioimmunoassays was performed between weeks 15 and 20 of gestation, all serum specimens being investigated in only one institution. The original alpha-software from Wald et al. was the basis for calculating the statistical risk for Down's syndrome. Pregnant women with a high risk for Down's syndrome (cutoff > or = 1:250) were taken care of in a special outpatient clinic including procedures like amniocentesis and fetal blood sampling. Amongst 5071 pregnant women, 21 fetal anomalies were seen. Five cases of Down's syndrome, three of trisomy 18, one trisomy 13, two cases of triploidy and four cases of open neural tube defects, one 46 xy/45 x mosaic karyotype and one case of gastroschisis could be diagnosed correctly. One case of trisomy 21, one case of trisomy 18 and two open neural tube defects showed false negative results. Using the cutoff of 1:250 for prenatal detection of Down's syndrome and performing ultrasound routinely to determine gestational age, the sensitivity of the "triple-test" was 83.33% having a specificity of 92.68%. The predictive value of a positive test for prenatal diagnosis of Down's syndrome was 1.33%.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗
PubMed2001

Antenatal gene tests in low-risk pregnancies: molecular screening for aspartylglucosaminuria (AGU) and infantile neuronal ceroid lipofuscinosis (INCL) in Finland.

Approximately one in five subjects in Finland carries some gene defect associated with 30 diseases belonging to the Finnish disease heritage, and about one in 500 children born is affected. Almost all carriers, women and men, are unaware of their condition. Recent advances in molecular medicine have offered the possibility of population-based carrier screening for recessive disorders. We studied acceptance and attitudes to antenatal screening for aspartylglucosaminuria (AGU) and infantile neuronal ceroid lipofuscinosis (INCL). From January 1995 until December 1996 carrier tests were offered at Kuopio City Health Center, free of charge to all pregnant women attending maternity care units. Women found to be carriers of AGU (n = 47) or INCL (n = 14) underwent detailed genetic counseling, and their male partners were also offered the test. If both partners appeared to be carriers we offered prenatal testing (n = 1). No affected fetuses were detected. Attitudes towards the gene test were elicited by means of a questionnaire. Altogether 87% of pregnant women elected to undertake the gene tests. Antenatal screening for gene defects was feasible and well accepted, and it provided an effective way to find carriers of genetic diseases and to incorporate prenatal testing into this process.

Adult↗
PubMed1997

The comet assay as a repair test for prenatal diagnosis of Xeroderma pigmentosum and trichothiodystrophy.

Xeroderma pigmentosum (XP) and trichothiodystrophy (TTD) are autosomal recessive diseases associated with extreme cutaneous photosensitivity, a defect in nucleotide excision repair (NER), and genetic complexity. Severe prognosis and lack of treatment led families at risk to request genetic counseling. Unscheduled DNA synthesis (UDS) is the classic method for diagnosis and requires 4 to 5 wk before conclusion. The use of the alkaline comet assay (single cell gel electrophoresis assay) is proposed as a simple repair test for earlier prenatal diagnosis. Amniotic or chorionic villus cells in two pregnancies at risk for XP and one for TTD were examined in comparison with skin fibroblasts of family members or with repair-proficient or -deficient control cells. The comet assay and the UDS test were performed in parallel. In repair-proficient cells, DNA strand breaks due to the incision of UV-induced DNA damage result in increased migration of high molecular weight DNA in the comet assay. Fetal cells demonstrate repair capacity similar to that of fibroblasts. In incision repair-deficient XP and TTD cells, after post-UV incubation, migration does not occur and comet moments are reduced. Two fetuses belonging to two XP families responded normally and were diagnosed as unaffected. Fetal cells in a TTD family had reduced comet moments and a low UDS. This fetus was diagnosed and confirmed later as affected. Heterozygotes had normal responses with both assays. The comet assay offers discrimination similar to that of the UDS assay in identifying NER-deficient phenotypes. Practical advantages in view of prenatal diagnosis include the reduced number of cells required, a 24-h delay in obtaining results, and no need for radioactivity.

Cells, Cultured↗