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PubMed1998

Carrier screening for cystic fibrosis, Gaucher disease, and Tay-Sachs disease in the Ashkenazi Jewish population: the first 1000 cases at New York University Medical Center, New York, NY.

BACKGROUND: By late 1993, the genes for cystic fibrosis and Gaucher disease and the mutations common among Ashkenazi Jews had been identified. In response to these advances, heterozygote screening for cystic fibrosis and Gaucher disease was added to the more than 20-year-old Tay-Sachs disease screening program at New York University Medical Center, New York, NY. OBJECTIVE: To review the outcomes from the first 1000 patients screened through this program. METHODS: Patients and their referring physicians were informed about the new carrier tests. At the time of screening, patients could choose their tests (hexosaminidase A by enzyme analysis for Tay-Sachs disease or mutation analysis for cystic fibrosis and Gaucher disease). All partners of Tay-Sachs and cystic fibrosis carriers were tested. Prenatal diagnosis was offered and performed for carrier couples or mixed-marriage couples in whom the Ashkenazi Jewish partner was a carrier of Gaucher disease. Outcomes were measured by: (1) choice of tests, (2) decisions regarding prenatal diagnosis, and (3) phenotypes of children born to patients who underwent screening. RESULTS: The majority of Ashkenazi Jewish patients chose to have testing for all 3 diseases. If they previously underwent screening for Tay-Sachs disease, then they chose to undergo testing for cystic fibrosis and Gaucher disease. All carrier couples for each of these diseases went on to have prenatal testing. All mixed-marriage couples in whom the Jewish partner was found to be a carrier for Gaucher disease chose to have prenatal diagnosis. One fetus was identified as having cystic fibrosis. Since the program was initiated, no Ashkenazi Jewish baby has been born with any of these diseases at New York University Medical Center. CONCLUSIONS: New tests can be readily incorporated into established heterozygote screening programs. The Ashkenazi Jewish population described herein tends to choose testing for all conditions for which heterozygote screening is available.

Cystic Fibrosis↗

PubMed2002

[Second trimester Down syndrome serum screening--results from a pilot study].

The results from a pilot prospective study--second trimester Down syndrome [DS] serum screening between 15 and 21 w.g. with two markers (alpha-fetoprotein and free bb-hCG)--were summarised. Sensitivity, false-positive rate [FPR], positive predictive value [PPV] of the screen positive and negative predictive value [NPV] of the screen negative result for the sbgroups II and below 35 years of age were analysed. The uptake for invasive prenatal testing in screen positive patients and the percentage of terminated pregnancies with prenatally diagnosed DS fetuses as well as the ratio "lost unaffected pregnancies/1 DS fetus diagnosed antenatally" were also calculated. High sensitivity of the DS serum screening was achieved--75% and 87.5% in the subgroups below and II the age of 35 respectively with 6.6 and 31.7% FPR. With higher DS age risk the PPV of the screen positive test was higher and the NPV of the screen negative result--lower. The percentage of invasive prenatal testing in screen positive patients was high (average 83.4%) without significant differences in the two age subgroups. Pregnancy was terminated in all cases with antenatally diagnosed DS fetuses. The ratio "lost unaffected pregnancies/1 DS fetus diagnosed antenatally" for serum screening was lower compared to the same ratio when screening by age. The results from our pilot study (serum screening sensitivity and FPR, uptake for invasive testing in screen-positive cases) are comparable to the ones reported in literature. This is an important prerequisite for introduction of mass DS screening for our population.

Abortion, Induced↗

PubMed1998

Attitudes of young adults to prenatal screening and genetic correction for human attributes and psychiatric conditions.

With recent advances in DNA technology, questions have arisen as to how this technology should be appropriately used. In this article, results obtained from a survey designed to elicit attitudes of college students to prenatal testing and gene therapy for human attributes and psychiatric conditions are reported. The eleven hypothetical disease phenotypes included schizophrenia, alcoholism, tendency toward violent behavior, attention deficit/hyperactivity disorder, depression requiring medical treatment, obesity, involvement in "dangerous" sports activities, homosexuality, borderline normal IQ (80-100), proportional short stature, and inability to detect perfect pitch. Most students supported prenatal genetic testing for psychiatric disorders and behavior that might result in harm to others (i.e., tendency towards violent behavior) and found prenatal genetic testing for human attributes less desirable. However, the lack of unilateral agreement or disagreement toward any one condition or attribute suggests the potential difficulties ahead in the quest for guidelines for the application of new technologies available to manipulate the human genome.

Adolescent↗

PubMed2003

Socioeconomic and state-level differences in prenatal diagnosis and live birth prevalence of Down's syndrome in the United States.

BACKGROUND: Previous studies have shown socioeconomic disparities in the use of prenatal diagnosis in several countries, including France and the United States. Few studies however, have examined the impact of socioeconomic differences in prenatal testing on disparities in the live birth prevalence of congenital anomalies. In this article, we first review and further discuss some of the results of our previously published work that assesses: i) socioeconomic differences in the use of amniocentesis in the United States using data from national birth cohorts; and ii) impact of socioeconomic differences in prenatal diagnosis on the live birth prevalence of Down's syndrome (trisomy 21). We then present the results of a study that explores the potential effects of public policies regarding abortion on state-level differences in the live birth prevalence of Down's syndrome. MATERIALS AND METHODS: We used birth data from the National Center for Health Statistics for the years 1989 to 1991 as well as data from the National Abortion and Reproductive Rights Action League (NARAL) state-by-state review of abortion rights. The main individual-level socioeconomic variables in the analyses were maternal ethnicity and education; the analyses of the interaction effects between maternal age and ethnicity are presented here. Interaction effects were assessed using logistic regression models with likelihood ratio tests. We used hierarchical logistic regression models for analyses of state-level effects while controlling for individual-level socioeconomic factors. RESULTS: We found substantial age-specific socioeconomic differences in the use of amniocentesis and in the rates of age-related increase in the live birth prevalence of Down's syndrome. In particular, African Americans and Mexican Americans were found to have lower odds of amniocentesis use and higher odds of Down's syndrome at birth. In addition, after controlling for maternal age, socioeconomic factors and prenatal care, we found that states which allowed public financing of abortion services for all or most circumstances had lower odds of Down's syndrome at birth. CONCLUSION: Unless socioeconomic differences in prenatal testing are addressed, the increasing use of prenatal testing might result in widening socioeconomic disparities in the live birth prevalence of Down's syndrome and other major congenital anomalies in future years.

Abortion, Induced↗

PubMed2005

Patient and health professional acceptance of integrated serum screening for Down syndrome.

Integrated testing for Down syndrome combines first trimester maternal serum and nuchal translucency (NT) measurements with second trimester maternal serum measurements into a single second trimester Down syndrome risk. A variant of integrated testing, the integrated serum test, requires only the serum measurements and may be more suitable for widespread use in the general pregnancy population. Concern has been voiced that women will find the delay associated with waiting for screening results unacceptable for either fully integrated (including NT measurements) or integrated serum testing. To address this issue, we surveyed 60 women from a population of 8773 women enrolled in an integrated serum screening intervention trial in Maine. The women all had also undergone traditional second trimester screening 1 to 2 years earlier. All 60 women remembered having the integrated serum test, and 59 remembered having a prenatal test in their previous pregnancy. Three-quarters of women did not experience anxiety relating to the wait for final results in the second trimester, and 95% would consider being screened by the integrated serum test in a future pregnancy. Women receiving prenatal care at the primary care level are prepared to wait until the second trimester for more accurate Down syndrome risk estimates on which to base their decision-making.

Adult↗

PubMed2006

Predictive factors for pregnancy hypertension in primiparous adolescents: analysis of prenatal care, ABPM and microalbuminuria.

OBJECTIVE: To quantify PH prevalence in primiparous adolescents; define predictive factors for the occurrence of PH and its impact on newborns. METHODS: We followed 29 primiparous adolescents from the prenatal period through the 12th week of the puerperium, with a mean of sixteen years of age, served at the Outpatient Facility for Adolescents of Maternidade Escola Assis Chateaubriand (MEAC) of Universidade Federal do Ceará (Fortaleza, Brazil). The pregnant adolescents were divided into two groups, that is, those who remained normotensive (Group I) and those who developed PH (Group II). The variables investigated in the assessment of the value of predictability for the development of PH were anthropometric measures, socioeconomic aspects, smoking habit, inheritance for SAH (father/mother), prenatal tests requested in the first prenatal care visit in addition to microalbuminuria and ambulatory blood pressure monitoring (ABPM) in the 28th week of gestation. The pregnant adolescents were followed up at delivery and late puerperium (12th week after the puerperium). The newborns to the mothers included in our study were assessed at birth according to the Apgar score and the Capurro method, for weight, height and perinatal hypoxia. RESULTS: The prevalence of PH was 51.7%. Inheritance for SAH presented the highest predictive value for PH with an odds ratio of 10.99. Diastolic arterial pressure equal to or above 70 mmHg at the gestational age of 35 weeks was statistically significant as a predictive value for PH. At ABPM we found a predictive value for PH: diastolic pressure load during alertness, diastolic and systolic pressure load during night sleep, pressure variability and maximum diastolic pressure during sleep. Specifically a maximum diastolic arterial pressure (DAP) at ABPM during the period of night sleep (3)64 mmHg presented an odds ratio of 6 for PH with a sensitivity of 80% and a specificity of 60% for the development of PH. CONCLUSION: The research for PH predictive factors in primiparous adolescents showed to be easy to apply and useful to stratify high-risk pregnant women as regards the development of PH.

Adolescent↗

PubMed2006

Reproductive freedom, self-regulation, and the government of impairment in utero.

This article critically examines the constitution of impairment in prenatal testing and screening practices and various discourses that surround these technologies. While technologies to test and screen (for impairment) prenatally are claimed to enhance women's capacity to be self-determining, make informed reproductive choices, and, in effect, wrest control of their bodies from a patriarchal medical establishment, I contend that this emerging relation between pregnant women and reproductive technologies is a new strategy of a form of power that began to emerge in the late eighteenth century. Indeed, my argument is that the constitution of prenatal impairment, by and through these practices and procedures, is a widening form of modern government that increasingly limits the field of possible conduct in response to pregnancy. Hence, the government of impairment in utero is inextricably intertwined with the government of the maternal body.

Abortion, Eugenic↗

PubMed1989

[Genetic counseling on a molecular basis for Huntington's chorea].

The gene responsible for Huntington Disease has been mapped at the end of the short arm of chromosome 4. Different polymorphic probes from the immediate vicinity of the gene are available and provide accurate tools for the identification of carriers of the gene. The presymptomatic testing of adults or the prenatal testing (exclusion testing) of the unborn child must be considered with great caution, it requires a multidisciplinary approach and will benefit from intensive collaboration with the lay organizations. Presymptomatic testing will presumably find a much wider application when it can be coupled to an effective preventive treatment.

DNA Probes↗

PubMed1993

Sociocultural differences in the impact of amniocentesis: an anthropological research report.

This research report describes an anthropological study of the social impact and cultural meaning of prenatal diagnosis in New York City. Research parameters, findings and suggestions for designing future prenatal testing services are outlined. The ethnocultural and socioeconomic diversity of those whose lives are touched by prenatal genetic testing is stressed.

Abortion, Induced↗

PubMedDate not supplied

Conception to obtain hematopoietic stem cells.

A couple may have a child to provide stem cells for another child. They may also use preimplantation testing--even, troubling though it is, prenatal testing and selective abortion--to ensure a close tissue match.

Abortion, Eugenic↗

PubMed1997

Sonographic and maternal serum screening abnormalities in fetuses affected by spinal muscular atrophy.

Fetuses with degenerative neurological disorders or metabolic diseases rarely exhibit sonographic abnormalities. As a result, prenatal diagnosis, when available, requires invasive testing. Prenatal diagnosis of spinal muscular atrophy (SMA) can be made by testing chorionic villi or amniocytes. Indirect genotype analysis by use of single- and multi-locus polymorphic microsatellites of the region 5q11.2-q13.3 is used. We present two cases of SMA that manifested at 11 and 16 weeks' gestation by the presence of abnormal ultrasound findings. Each case also had abnormal maternal serum screening.

Chorionic Gonadotropin↗

PubMed1990

Social acceptability of HIV screening among pregnant women.

The paper presents the results of a survey about risk perception, knowledge, and attitudes towards HIV infection among 397 pregnant women in France. The survey was carried out between December 1987 and March 1988 in two Paris-region maternity hospitals where HIV testing is routinely proposed during the first prenatal visit. Uptake of HIV prenatal testing has been rapid in France: before coming to the maternity hospitals, 26.5% of women had already been tested. Social acceptability of testing is high, 68.8% of the sample even supporting mandatory prenatal HIV screening. Such acceptability appears to be based less on an in-depth knowledge about the risks of transmission from mother-to-fetus than on the general French context of free-of-charge mandatory prenatal care and on the potentially reassuring effect of a true negative test. Consensus about abortion for HIV-infected pregnant women is strong (80.1%) and is not influenced by religious beliefs, in contrast to attitudes toward abortion in the case of fetal handicaps. This social environment creates special difficulties for the management of the complex dilemmas regarding pregnancy and childbearing for HIV-infected women.

AIDS Serodiagnosis↗

PubMed1995

Amniocentesis rate and the detection of Down syndrome and other chromosomal anomalies in Israel.

We investigated the contribution of different screening criteria to the prenatal detection of Down syndrome (DS) as well as other chromosomal anomalies in the Jewish population in Israel during 1990 and 1992. There was a significant decrease (P < 0.03) in the incidence of DS live-births during 1992 (40:78 442) compared with 1990 (69:73 751) which paralleled a marked increase in total prenatal testing and in DS cases detected prenatally. Private laboratories, which perform amniocenteses mostly for women with a low risk of DS and without genetic counselling, had a significantly lower detection rate (1:917) compared with that of the genetic institutes, which following genetic counselling test both women > or = 37 years of age (1:91) and women younger than 37 years (1:113). The detection of chromosomal anomalies other than DS was less affected by the reason for amniocentesis. Amniocentesis indicated by maternal serum marker screening of women younger than 37 years identified a greater number of chromosomal anomalies other than DS than amniocentesis based on age (> or = 37 years) alone (111:9604 versus 94:9810; P < 0.06). Prenatal detection of DS is most effective when the indication for amniocentesis follows genetic counselling. The increasing use of maternal serum marker screening leads to a significant improvement in the positive detection rate of chromosomal anomalies other than DS in young women.

Adult↗

PubMed1984

Potential impact of a predictive test on the gene frequency of Huntington disease.

Fifty-five individuals at 50% risk of inheriting Huntington disease (HD) were given in-depth structured interviews to survey attitudes toward use of a predictive test and to assess the possible impact of such a test on the number of gene carriers born. Three-quarters of the sample said they would take predictive test. Given a positive predictive or prenatal test, the number of individuals choosing to have children is reduced from 80% of the total sample to 42%, or by almost one-half. The large proportion of at risk individuals who say they would use a predictive test underscores the importance of developing guidelines for its administration prior to implementation.

Adult↗

PubMedDate not supplied

Risk of mosaicism and uniparental disomy associated with the prenatal diagnosis of a non-homologous Robertsonian translocation carrier.

OBJECTIVE: To estimate the fetal risk of uniparental disomy (UPD) associated with the presence of a Robertsonian translocation (RT) in a parent or in the fetus, to determine whether it is clinically indicated to test these pregnancies for UPD. METHODS: Retrospective analysis of our Centre's experience in testing prenatal specimens for UPD in cases of known familial RTs or fortuitous RT finding. In addition, all reports dealing with prenatal UPD testing in similar populations obtained from PUBMED and the 1995-2001 American Society of Human Genetics Meeting's abstracts were assessed. RESULTS: No case of UPD 14 or 15 was found among the 51 tests performed at our Centre. Meta-analysis identified one case of UPD13 out of 687 UPD studies, conducted in 400 prenatal diagnoses. The 95% confidence interval of the risk of UPD in the population studied (1 in 738) is 0.02-0.76%. In one report, trisomy mosaicism for one of the chromosomes involved in the translocation was found in 3 cases out of 169 (95% confidence interval: 0.1-3 %). CONCLUSIONS: Fetuses carrying a Robertsonian translocation have a risk of UPD of 0.02-0.76% (95% CI). In this population, trisomy mosaicism is more frequent than UPD. This finding justifies the study of additional colonies in all cases of prenatally diagnosed RT.

Chromosomes, Human, Pair 14↗

PubMed1999

Prenatal prediction of spinal muscular atrophy in Chinese.

We used linkage analysis, non-isotope SSCP (single-strand conformation polymorphism) and PCR-RFLP (polymerase chain reaction-restriction fragment length polymorphism) for prenatal diagnosis of spinal muscular atrophy (SMA). A total of 26 cases from 20 SMA families (16, type 1 and 4) were evaluated. 5 out of 26 fetuses were affected and, following genetic counselling, the parents decided to terminate the pregnancies. Aborted fetal tissues were examined and the diagnosis was confirmed in each case. The 21 unaffected cases were either normals (12 cases) or carriers (9 cases). These children have been followed for six months to two and a half years. No false-negative or false-positive results on prenatal testing were found. We conclude that prenatal diagnosis of SMA is reliable and accurate.

Deoxyribonucleases, Type II Site-Specific↗

PubMed2002

Prenatal prediction of childhood-onset spinal muscular atrophy (SMA) in Turkish families.

Childhood-onset spinal muscular atrophy (SMA) is one of the most common neurodegenerative genetic disorders. SMN1 is the SMA-determining gene deleted or mutated in the majority of SMA cases. There is no effective cure or treatment for this disease yet. Thus, the availability of prenatal testing is important. Here we report prenatal prediction for 68 fetuses in 63 Turkish SMA families using direct deletion analysis of the SMN1 gene by restriction digestion. The genotype of the index case was known in 40 families (Group A) but unknown in the remaining 23 families (Group B). A total of ten fetuses were predicted to be affected. Eight of these fetuses were derived from Group A and two of these fetuses were from Group B families. Two fetuses from the same family in Group A had the SMNhyb1 gene in addition to homozygous deletion of the NAIP gene. One fetus from Group A was homozygously deleted for only exon 8 of the SMN2 gene, and further analysis showed the presence of both the SMN1 and SMNhyb1 genes but not the SMN2 gene. In addition, one carrier with a homozygous deletion of only exon 8 of the SMN1 gene was detected to have a SMNhyb2 gene, which was also found in the fetus. To our knowledge, these are the first prenatal cases with SMNhyb genes. Follow-up studies demonstrated that the prenatal predictions and the phenotype of the fetuses correlated well in 33 type I pregnancies demonstrating that a careful molecular analysis of the SMN genes is very useful in predicting the phenotype of the fetus in families at risk for SMA.

Cyclic AMP Response Element-Binding Protein↗

PubMedDate not supplied

Genetic mechanisms and mental retardation.

The past five years have witnessed rapid and apparently relentless progress in the delineation of the genetic basis of disorders associated with mental retardation. Each gene discovery has a new story to tell but inevitably generates further questions. For the clinical geneticist and, perhaps more importantly, for patients and their families, many of these recent discoveries have yielded information which has immediate implications for diagnostic testing, family and population screening and prenatal testing. Many of the ethical issues consequent upon the rapid progress are only now being addressed. This article highlights a number of disorders whose molecular genetic basis has recently been further characterised. Brain development and maintenance of neurological networks provide the unifying theme; the genetic defects are disparate and each of their mechanisms appears to be novel.

Chromosome Deletion↗