Abstract:
:The uptake of any screening test is influenced by knowledge of the condition being screened for. In the present study, the knowledge and the source of knowledge of women offered antenatal screening for Down syndrome (DS) was assessed by means of a self-administered questionnaire. The questionnaire was administered to 300 consecutive women booking for antenatal care, of the 245 (82%) women who completed and returned the questionnaire, 117 (48%) were Caucasian, 85 (35%) were Asian born outside the UK, 32 (13%) were Asian born in the UK and ten (4%) belonged to other categories. Only 30% of the cohort had a good understanding of the condition. Racial groups other than Caucasian had a poorer understanding of DS. The factors which affected knowledge of DS included quality of spoken English, knowing an affected child, parity and religion. The most significant factor affecting acceptance of screening was the woman's knowledge of DS. The source of information for the condition varied widely: 42% from a general practitioners (GP), 24% from the hospital and 16% from midwives. The proportion with good knowledge was similar in those women whose source of information was the GP (45%) and the midwife (41%). These proportions were, however, higher (though not significantly) when the source of information was from magazines and newspapers (67%) and from friends (53%). Uptake of the screening test was best in those with good knowledge (53%) compared to those with poor knowledge (23%) (p<0.02). Between 28% and 66% (depending on the ethnic group) of women had a screening blood test "allegedly" without knowing why it had been performed. In order to improve uptake of the screening test for DS there is need for better education and counselling of women attending for antenatal care.
journal_name
Prenat Diagnjournal_title
Prenatal diagnosisauthors
Chilaka VN,Konje JC,Stewart CR,Narayan H,Taylor DJdoi
10.1002/1097-0223(200103)21:3<159::aid-pd20>3.0.cosubject
Has Abstractpub_date
2001-03-01 00:00:00pages
159-64issue
3eissn
0197-3851issn
1097-0223pii
10.1002/1097-0223(200103)21:3<159::AID-PD20>3.0.COjournal_volume
21pub_type
杂志文章abstract:OBJECTIVE:To present the results of 10 years of quantitative fluorescence PCR (QF-PCR) analysis of prenatal samples for the rapid diagnosis of the common aneuploidies. This represents the largest QF-PCR data set from a single testing centre. METHODS:QF-PCR analysis using a single assay containing 17 microsatellite mar...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.3986
更新日期:2012-12-01 00:00:00
abstract::A 20-year-old woman with Beckwith-Wiedemann syndrome (BWS) was ultrasonographically appraised at intervals during her pregnancy. Unequivocal evidence for a diagnosis of BWS was obtained in the fetus and this was confirmed postnatally. Early ultrasound diagnosis enabled appropriate genetic counselling to be given; neon...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,评审
doi:10.1002/pd.1970110306
更新日期:1991-03-01 00:00:00
abstract:OBJECTIVE:This study aimed to detect genomic imbalances in fetuses with congenital heart defect (CHD) by high-resolution single-nucleotide polymorphism (SNP) array. METHODS:A total of 99 fetuses with CHDs with or without other ultrasound anomalies (including structural anomalies and soft markers) but normal karyotypes...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4383
更新日期:2014-09-01 00:00:00
abstract::Trisomy 12 mosaicism was found in about 15 per cent of cultured amniocytes obtained from a 32-year-old white female at 17.6 weeks of gestation. Termination of pregnancy was elected and multiple tissues were obtained for chromosome analysis. Of 158 cells examined, only 1 cell in placenta was found with an extra number ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,评审
doi:10.1002/pd.1970101204
更新日期:1990-12-01 00:00:00
abstract::We studied two children born to a myasthenic mother. The first child, a female, had multiple flexion contractures. She died 1 h after birth. In the second pregnancy, 3 years later, ultrasonographic examination at 20 weeks showed decreased fetal movements and multiple flexion contractures. The pregnancy was interrupted...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,评审
doi:10.1002/pd.1970110104
更新日期:1991-01-01 00:00:00
abstract::Following the birth of a baby girl confirmed to be homozygous normal for the delta F508 deletion causing cystic fibrosis (CF), many single-gene defects have been diagnosed by polymerase chain reaction (PCR) for preimplantation genetic diagnosis (PGD). A few misdiagnoses have been reported but no large-scale studies ha...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/(sici)1097-0223(199812)18:13<1402::aid-pd5
更新日期:1998-12-01 00:00:00
abstract:OBJECTIVE:The aim of this article is to assess the predictive value of second trimester mean uterine artery Doppler pulsatility index (mUtA PI) for pregnancy complications in women with systemic lupus erythematosus (SLE). METHODS:Cohort study of consecutive pregnancies complicated with SLE during a period of 12 years ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4517
更新日期:2015-05-01 00:00:00
abstract:OBJECTIVES:To evaluate the diagnostic yield of noninvasive prenatal diagnosis (NIPD) for FGFR3-related skeletal dysplasias and assess the accuracy of referrals based on sonographic findings to inform guidelines for referral. METHODS:We retrospectively reviewed laboratory and referral records from 2012 to 2018 to ascer...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.5687
更新日期:2020-06-01 00:00:00
abstract:OBJECTIVE:Early elective termination of pregnancy is the most common outcome of a diagnosis of anencephaly in developed countries. Experience and expertise with management of ongoing pregnancies is limited. We aimed to investigate the natural history of these pregnancies from diagnosis to delivery and to determine timi...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.2490
更新日期:2010-04-01 00:00:00
abstract:OBJECTIVE:Efficient prenatal risk communication hinges upon parents' grasp of statistical information. When forming their subjective representation of a probability, pregnant women may focus on inappropriate factors and ignore the appropriate factors. METHOD:The present research investigates the subjective probability...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.2771
更新日期:2011-08-01 00:00:00
abstract::Pallister-Killian syndrome (tetrasomy 12p) is an uncommon aneuploidy, which may present in the prenatal period with an ultrasonographically detected fetal abnormality or following karyotyping for maternal age. We report a case that presented with increased nuchal translucency and hydrops at a first trimester screening...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/1097-0223(200008)20:8<670::aid-pd885>3.0.c
更新日期:2000-08-01 00:00:00
abstract::Fetal gastroschisis is regarded as a relatively straightforward ultrasound diagnosis. We report two cases of infants born with undiagnosed gastroschisis despite several detailed prenatal assessments following raised serum alphafetoprotein measurements. In both cases, the bowel was healthy with no evidence of long-term...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970070812
更新日期:1987-10-01 00:00:00
abstract:OBJECTIVE:Audit the crown-rump length (CRL) measurements taken at 11 to 13 weeks scan, using operator-specific median multiples of the median (MoM) for pregnancy-associated plasma protein-A (PAPP-A) and free β-human chorionic gonadotropin (β-hCG) plots, to identify deviations potentially related to a systematic CRL bia...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4996
更新日期:2017-03-01 00:00:00
abstract::A (semi-) randomized controlled study with long-term follow-up was conducted to compare the effects of transabdominal chorionic villus sampling and early amniocentesis on fetal mortality and child morbidity. Women requesting early prenatal diagnosis for advanced maternal age were allocated to early amniocentesis or tr...
journal_title:Prenatal diagnosis
pub_type: 临床试验,杂志文章,随机对照试验
doi:
更新日期:1998-05-01 00:00:00
abstract::A single umbilical artery was seen in 10 out of 117 cytogenetically abnormal pregnancies. The abnormal karyotypes found to be associated with a single umbilical artery were trisomy 18 (n = 5), monosomy X (n = 2), triploidy (n = 1), sex chromosome (47,XYY; n = 1) and translocation (46t(X,5)(q13p15);n = 1). With the exc...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970121118
更新日期:1992-11-01 00:00:00
abstract:OBJECTIVE:To evaluate the population parameters applied to the calculation of risk for Down syndrome (DS) in the first trimester screening (FTS) and the comparison of performance obtained including or excluding maternal age from the mathematical algorithm. METHODS:Three different calculation engines for prenatal risk ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.2937
更新日期:2012-03-01 00:00:00
abstract::Acquired immunodeficiency syndrome (AIDS) was first described in 1981, and continues to be one of the worst global health pandemics in recorded history. Concerted international efforts have helped to increase awareness of human immunodeficiency (HIV) status, improve access to treatment and continuation of therapy to a...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,评审
doi:10.1002/pd.5769
更新日期:2020-12-01 00:00:00
abstract:OBJECTIVES:Fetal aortic valvuloplasty (FAV) for severe aortic stenosis (AS) has shown promise in averting progression to hypoplastic left heart syndrome. After FAV, predicting which fetuses will achieve a biventricular (BiV) circulation after birth remains challenging. Identifying predictors of postnatal circulation on...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.5885
更新日期:2021-01-18 00:00:00
abstract::We report a case of severe intrauterine growth retardation (IUGR) and hypospadias in association with trisomy 22 diagnosed following chorionic villus sampling (CVS). Subsequent analysis of amniotic fluid cultures showed a normal male karyotype, 46,XY. As a previous case had been reported with similar abnormalities, in...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.260
更新日期:2002-02-01 00:00:00
abstract::A systematic search was made for uniparental disomy (UPD) in familial or de novo balanced Robertsonian translocations, identified by prenatal cytogenetic investigations. Parent-of-origin studies were performed using molecular markers for both chromosomes involved in the translocation. No UPD cases were identified out ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:
更新日期:2000-06-01 00:00:00
abstract:OBJECTIVE:To examine the cost and performance implications of introducing cell-free fetal DNA (cffDNA) testing within modeled scenarios in a publicly funded Canadian provincial Down syndrome (DS) prenatal screening program. METHOD:Two clinical algorithms were created: the first to represent the current screening progr...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4311
更新日期:2014-04-01 00:00:00
abstract::We present the first report of prenatally diagnosed Dandy-Walker malformation with the karyotype of partial trisomy 11 and 22 due to familial translocation t(11;22)(q23;q11) inherited in three generations. We demonstrate that the Dandy-Walker malformation can be an associated congenital malformation of supernumerary d...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/(SICI)1097-0223(199612)16:12<1137::AID-PD9
更新日期:1996-12-01 00:00:00
abstract::Fourteen (2.5 per cent) of 568 chromosome preparations after CVS showed discrepancies between the placental and fetal karyotype, mainly due to placental mosaicism. The presence of a second cell line within the placenta was confirmed in all but one case, in which cytogenetic reinvestigations were carried out. Our clini...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970090907
更新日期:1989-09-01 00:00:00
abstract::Current debates about sex selection start from a paradox: on the one hand, the 'liberal' argument in favour of sex selection is often thought to be sound; but on the other hand there is widespread public opposition to sex selection. So it is worth spending some time examining the arguments against sex selection. Four ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,评审
doi:10.1002/pd.1473
更新日期:2006-07-01 00:00:00
abstract:OBJECTIVE:To test the hypothesis that free fetal DNA (ffDNA) circulating in maternal plasma originates mainly from the placenta we studied ffDNA levels in anembryonic pregnancies. METHODS:Maternal blood samples were collected from 15 normal first-trimester pregnancies in which fetal sex was subsequently determined and...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1700
更新日期:2007-05-01 00:00:00
abstract:OBJECTIVES:The objective of this study was to identify maternal characteristics associated with a failed cell-free DNA (cfDNA) test due to a low fetal fraction (FF). METHOD:Retrospective cohort study of women with singleton pregnancies who had cfDNA screening at 10-25 weeks gestation between October 2011 and January 2...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.5152
更新日期:2017-11-01 00:00:00
abstract:OBJECTIVE:Evaluate patient choices and outcomes following positive cfDNA. METHOD:Retrospective cohort study of women with positive cfDNA through two academic centers between March 2012 and December 2014. Patients were screened based on ACOG indications. Medical records reviewed for counseling, ultrasound findings, dia...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4805
更新日期:2016-05-01 00:00:00
abstract::Prenatal diagnosis of cord defects by means of ultrasound examination is possible and highly accurate. Although this is a rare pathological finding, we report two cases in which umbilical cord pseudocysts were associated with trisomy 18. These observations underscore the need of umbilical blood sampling for establishi...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970080802
更新日期:1988-10-01 00:00:00
abstract:OBJECTIVE:Low levels of maternal serum pregnancy associated plasma protein-A (PAPP-A) have been linked to chromosome anomalies such as trisomy 21, 13 and 18, triploidy and sex chromosome aneuploidy. Low levels of PAPP-A have also been implicated in spontaneous miscarriage. The purpose of this study was to evaluate whet...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.407
更新日期:2002-09-01 00:00:00
abstract::The diagnosis of Dandy-Walker malformation was made on the ultrasonographic evaluation of a 33-week male fetus. Pedigree analysis revealed a family history of isolated Dandy-Walker malformation in three other males, suggesting an X-linked recessive inheritance pattern. ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970130203
更新日期:1993-02-01 00:00:00