Abstract:
OBJECTIVES:To assess the factors associated with utilization of genetic counseling services among pregnant Israeli Arab women. METHODS:A case-control study was conducted among 414 pregnant Arab women who were referred by a family physician or a perinatologist to genetic counseling services between 2008 and 2011. Data was collected using interviews, with both groups 'users' and 'non-users' of genetic counseling, based on a structured questionnaire including demographic, socio-economic, medical and cultural variables. RESULTS:In multivariate analysis, factors affecting women's utilization of genetic counseling service were high income level (OR 3.44, 95%CI 1.8-6.5, p < 0.001), high service accessibility (OR 0.75, 95%CI 0.67-0.84, p = 0.001), more positive attitude toward genetic counseling (OR 0.43, 95%CI 0.27-0.67, p = 0.012) and lower religiosity level (OR 1.40, 95%CI 0.94-2.09, p = 0.04). However, when we examined the following variable: pregnant woman's age, woman's education, consanguinity and pregnancy' age, knowledge level and the perspective toward abortion, no significant differences were found between the users and non-users groups. CONCLUSIONS:The underutilization of genetic counseling services among pregnant Israeli Arab women was associated with the following: lower income level, attitude toward genetic counseling, accessibility to service and religiosity. Thus, it is advisable to expand genetic counseling service within this community. © 2014 John Wiley & Sons, Ltd.
journal_name
Prenat Diagnjournal_title
Prenatal diagnosisauthors
Sharkia R,Tarabeia J,Zalan A,Atamany E,Athamna M,Allon-Shalev Sdoi
10.1002/pd.4550subject
Has Abstractpub_date
2015-04-01 00:00:00pages
370-5issue
4eissn
0197-3851issn
1097-0223journal_volume
35pub_type
杂志文章abstract:OBJECTIVE:To present a report on prenatal diagnosis using direct SPG4 gene analysis in a family with autosomal dominant hereditary spastic paraplegia (AD-HSP). METHODS:Genetic linkage and haplotype analysis were previously carried out with chromosome 2p markers. DNA was obtained from affected individuals, the affected...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.875
更新日期:2004-05-01 00:00:00
abstract:OBJECTIVE:To estimate the improvement in screening efficiency when fetal ductus venosus Doppler studies are added to existing first-trimester Down syndrome screening protocols. METHODS:Statistical modelling was used with parameters derived from prospective ductus venosus studies and from the published literature. The ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1203
更新日期:2005-10-01 00:00:00
abstract:OBJECTIVES:To display and compare the different published formulae that specify the association between maternal age and the risk of a Down syndrome live birth. METHODS:Papers published since 1987 on the prevalence of Down syndrome live births in relation to maternal age were located using MEDLINE and the references g...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.568
更新日期:2003-03-01 00:00:00
abstract:OBJECTIVES:The purpose of this study was to compare prenatal versus postnatal markers of congenital diaphragmatic hernia (CDH) severity at a single fetal-care center. METHODS:A retrospective study was performed of patients having a complete prenatal evaluation and surgical repair (n = 55). Observed-to-expected lung-to...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4721
更新日期:2016-02-01 00:00:00
abstract:OBJECTIVES:To determine the recurrence risk of a free trisomy 21 pregnancy. METHODS:Data from the National Down Syndrome Cytogenetic Register (NDSCR), which contains information on nearly all cases of Down syndrome between 1989 and 2001 in England and Wales were used. Among 11 281 women with a Down syndrome pregnancy ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1292
更新日期:2005-12-01 00:00:00
abstract::A relatively simple method of obtaining high resolution chromosomes from amniotic fluid cells is described. The elongated chromosomes are achieved by adding ethidium bromide (5 micrograms/ml) to the culture 4 1/2 hours before harvesting and the high resolution banding can be produced by usual banding procedures. ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970030315
更新日期:1983-07-01 00:00:00
abstract::Apert syndrome (AS) is clinically characterized by typical facial features and symmetrical syndactyly of the digits. AS is inherited as an autosomal dominant trait. Recently, a fibroblast growth factor receptors 2 (FGFR2) mutation, either C934G or C937G, was identified in exon IIIa. Our report documents an affected mo...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:
更新日期:1998-06-01 00:00:00
abstract::Mosaicism in 4-8-cell human embryos analysed by fluorescence in situ hybridisation (FISH) has been widely reported, but few studies have addressed the incidence of mosaicism in more advanced embryonic stages. In the present study we analysed spare human embryos in a case of preimplantation genetic diagnosis (PGD) for ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:
更新日期:2000-12-01 00:00:00
abstract:OBJECTIVE:The co-occurrence of cancer and pregnancy is more frequently diagnosed. The effects of cancer treatment on maternal and fetal outcomes are less well known. The cardiotoxic effects of chemotherapy are a specific concern for the mother and fetus. We wanted to review the existing literature, mainly consisting of...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,评审
doi:10.1002/pd.3847
更新日期:2012-07-01 00:00:00
abstract::In this paper we report the fetal loss rate in relation to both maternal and gestational age in 1764 pregnant women who underwent transabdominal chorionic villus sampling (TA-CVS) between January 1986 and August 1990. The fetal loss rate, considered as a proportion of continuing pregnancies, decreased with advancing g...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970121007
更新日期:1992-10-01 00:00:00
abstract::22q11.2 deletion, the most common microdeletion syndrome within the general population, is estimated to have a prevalence of 1 in 3000 to 6000. Non-invasive prenatal testing has recently expanded to include screening for several microdeletions including 22q11.2. Given the expansion of prenatal screening options to inc...
journal_title:Prenatal diagnosis
pub_type: 信件
doi:10.1002/pd.5022
更新日期:2017-04-01 00:00:00
abstract::Amniocentesis at 17 weeks' gestation revealed a mosaic karyotype--46,XX/46,XX,-14,+dic(14)(p11). No abnormalities were detected on ultrasound. Growth and placentation were normal. The fetus was examined after termination of pregnancy and micrognathia and pulmonary hyperlobation were the only abnormalities detected. Se...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970140617
更新日期:1994-06-01 00:00:00
abstract::Fetal cardiac intervention was first proposed in the early 1990s to impact cardiac development and survival of fetuses with fetal aortic stenosis and evolving hypoplastic left heart syndrome (HLHS). Although initial attempts of fetal aortic valvuloplasty were unsuccessful and carried a high rate of morbidity and morta...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,评审
doi:10.1002/pd.5631
更新日期:2020-03-01 00:00:00
abstract::Glycogen storage disease type 1b (GSD1b) is an autosomal recessive inborn error of metabolism caused by deficiency of glucose-6-phosphate translocase (G6PT1). Current laboratory diagnosis for GSD1b is established by a functional enzyme assay of glucose-6-phosphatase in both fresh and detergent-treated liver homogenate...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/1097-0223(200009)20:9<765::aid-pd893>3.0.c
更新日期:2000-09-01 00:00:00
abstract:OBJECTIVE:The aims of this study were to review fetal and maternal outcomes after management of the compromised perinatal airway via operation on placental support or ex utero intrapartum treatment and to discuss implications for future management of these complex and rare cases. METHODS:We have presented a retrospect...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4200
更新日期:2013-11-01 00:00:00
abstract:OBJECTIVES:To describe the epidemiology and outcomes of sacrococcygeal teratoma (SCT) and identify the factors affecting prognosis in a population-based cohort. METHODS:Analyses of fetal SCTs from a population-based congenital anomaly register between 1995 and 2012, linked to regional datasets. A systematic literature...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,评审
doi:10.1002/pd.4641
更新日期:2015-11-01 00:00:00
abstract:OBJECTIVES:(1) Assess sensitivity of the measurement of nuchal translucency (NT), for the prenatal screening of congenital heart defect (CHD) on population-based data; (2) examine whether the sensitivity of NT varies for specific types of cardiac defects. METHODS:Using population-based data of the Paris Registry of Co...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.2883
更新日期:2011-12-01 00:00:00
abstract:OBJECTIVES:To determine the cost effectiveness of a universal prenatal screening program for alpha- and beta-thalassaemia. METHODS:We retrospectively reviewed our program from 1998 to 2002, and calculated the direct and indirect costs of various components. RESULTS:18,936 women were screened at our prenatal clinic an...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1035
更新日期:2004-11-01 00:00:00
abstract::Distal 10q trisomy is a well-defined but rare syndrome. Most cases are diagnosed in infancy or in childhood and rarely include prenatal findings. We present a case of fetal distal 10q trisomy with abnormal prenatal sonographic findings. A 19-year-old primigravida was referred for genetic counselling at 18 gestational ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/(sici)1097-0223(199909)19:9<876::aid-pd651
更新日期:1999-09-01 00:00:00
abstract::Iron loaded transferrin (holotransferrin) was used for enrichment of fetal cells from peripheral blood of pregnant women. Cord blood samples were used to evaluate enrichment efficacy of single and double MACS separations. Blood samples were obtained from 10 pregnant women prior to chorion villus sampling (CVS). Erythr...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:
更新日期:2000-05-01 00:00:00
abstract::Deficiency of amylo-1,6-glucosidase activity was expressed in parallel in liver and skin fibroblasts from a patient with type III glycogenosis. In crude extracts of control liver and muscle, amylo-1,6-glucosidase (M.W. 164000) was identified by immunoprecipitation; no cross-reacting material was found in the patient's...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970030104
更新日期:1983-01-01 00:00:00
abstract:OBJECTIVES:We present a case of early prenatal diagnosis of recurrent 46,XY partial gonadal dysgenesis, by combining early genetic and sonographic evaluations. METHODS:The conceptus of a mother with a first child affected by 46,XY gonadal dysgenesis was sonographically evaluated at 21- and 23-mm BPD (12(+2) and 12(+6)...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.673
更新日期:2003-09-01 00:00:00
abstract::The purpose of our study was to assess the influence of intra-uterine insemination (IUI) on the results of maternal serum Down syndrome screening. 43 women with IUI pregnancies and 4507 healthy women who conceived were studied. Ovulation in IUI pregnancies was induced by clomiphene and/or human menopausal gonadotrophi...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/(sici)1097-0223(199911)19:11<1012::aid-pd6
更新日期:1999-11-01 00:00:00
abstract::Glutamic-oxaloacetic transaminase (GOT1) gene dosage studies were performed on uncultured amniotic cells from a fetus at risk for duplication/deficiency of 10q24 leads to qter, due to maternal translocation t(9;10)(p24;q24). Previous investigations in the same pedigree had shown triplex dosage effect of GOT1 on red bl...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970030410
更新日期:1983-10-01 00:00:00
abstract::Between February 1994 and February 1997 a group of 881 women completed a questionnaire on the use of folic acid. During the study period the percentage of women who had been informed about the benefits of folic acid rose from 41 per cent to 90 per cent and the percentage taking supplementation rose from 18 per cent to...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:
更新日期:1999-02-01 00:00:00
abstract:OBJECTIVE:To explore the copy number variants (CNVs) in case of fetal duodenal obstruction (DO) and assess the associated prenatal findings and postnatal outcomes. MATERIALS AND METHODS:This retrospective study reviewed 51 fetuses with DO and the findings of chromosomal microarray analysis (CMA) used as a first-tier t...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.5834
更新日期:2020-09-30 00:00:00
abstract::A number of different models of CF carrier screening have now been tested in pilot trials. Apart from opportunistic and cascade testing (which are strictly speaking not true forms of screening), the major programmes have been directed either to young adults in primary care or to pregnant women in antenatal clinics. On...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,评审
doi:10.1002/pd.1970141309
更新日期:1994-12-01 00:00:00
abstract:OBJECTIVES:A QF-PCR test has been developed to diagnose sex chromosome imbalances in prenatal samples and has been applied to a diagnostic service. METHODS:The test uses a PCR multiplex with eight primer pairs: six X-chromosome polymorphic markers, including two markers from Xp (a region not included in previously pub...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.569
更新日期:2003-03-01 00:00:00
abstract::Nine hundred and thirty-six prenatal chromosomal analyses were performed by four cytogenetic centres after ultrasound diagnosis of fetal abnormalities, amniotic fluid disorders, fetal growth retardation, and fetal or placental abnormalities. During the same period, 6515 fetal karyotypes were analysed because of matern...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970090405
更新日期:1989-04-01 00:00:00
abstract:OBJECTIVE:The objective of this article is to describe the diagnostic significance of prenatal identification of dilated supra-pineal recess (SPR) in cases of ventriculomegaly. METHOD:A retrospective study, based on neurosonography and magnetic resonance imaging, of a series of five prenatal cases referred to our inst...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4323
更新日期:2014-04-01 00:00:00