Abstract:
OBJECTIVE:A common concern of utilizing prenatal advanced genetic testing is that a result of uncertain clinical significance will increase patient anxiety. However, prenatal ultrasound may also yield findings of uncertain significance, such as 'soft markers' for fetal aneuploidy, or findings with variable prognosis, such as mild ventriculomegaly. In this study we compared risk perception following uncertain test results from each modality. METHODS:A single survey with repeated measures design was administered to 133 pregnant women. It included 'intolerance of uncertainty' questions, two hypothetical scenarios involving prenatal ultrasound or advanced genetic testing, and response questions. The primary outcome was risk perception score. RESULTS:Risk perception did not vary significantly between ultrasound and genetic scenarios (p = 0.17). The genetic scenario scored a higher accuracy (p = 0.04) but lower sense of empowerment (p = 0.01). Furthermore, patients were more likely to seek additional testing after an ultrasound than after genetic testing (p = 0.05). There were no differences in other secondary outcomes including perception of life-altering consequences and hypothetical worry, anxiety, confusion, or medical care decisions. CONCLUSIONS:Our data suggest that uncertain findings on prenatal genetic testing do not elicit a higher perception of risk or anxiety when compared to ultrasound findings of comparable uncertainty. © 2015 John Wiley & Sons, Ltd.
journal_name
Prenat Diagnjournal_title
Prenatal diagnosisauthors
Richards EG,Sangi-Haghpeykar H,McGuire AL,Van den Veyver IB,Fruhman Gdoi
10.1002/pd.4680subject
Has Abstractpub_date
2015-12-01 00:00:00pages
1213-7issue
12eissn
0197-3851issn
1097-0223journal_volume
35pub_type
杂志文章abstract::Two severely growth-retarded fetuses found to have maternal uniparental disomy (UPD) for chromosome 16 and trisomy 16 placental mosaicism both had an unfavourable outcome. Antenatally, the first case was complicated by an unexplained raised maternal serum alpha-fetoprotein concentration, preterm premature rupture of t...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970140817
更新日期:1994-08-01 00:00:00
abstract:OBJECTIVES:To assess the effect of altering image size on the absolute nuchal translucency (NT) measurement. METHODS:NT was measured at three image magnifications (60%, 100% and 200%) in 120 singleton pregnancies. RESULTS:The mean +/- SD NT measurements were 1.52 +/- 0.57 mm, 1.35 +/- 0.53 mm and 1.18 +/- 0.48 mm at ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.577
更新日期:2003-04-01 00:00:00
abstract::Fetomaternal haemorrhage (FMH) was studied after 46 cordocenteses. alpha-Fetoprotein (AFP) concentration and Kleihauer staining of maternal blood, taken both before and after the procedure, revealed increases in AFP values of more than 40 per cent in 30 per cent of the patients examined; fetal haemorrhage of more than...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970150403
更新日期:1995-04-01 00:00:00
abstract:OBJECTIVES:Prenatal screening for Down syndrome has become standard practice in many western countries. In the Netherlands, however, prenatal screening tests for congenital defects are not offered routinely. The present study aims to assess test uptake in a large, unselected population of pregnant women, and to give mo...
journal_title:Prenatal diagnosis
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1002/pd.1090
更新日期:2005-01-01 00:00:00
abstract:OBJECTIVE:The cerebroplacental ratio (CPR) is a semi-quantitative marker for fetal brain-sparing. Our purpose was to measure the CPR at the time of treatment with selective laser photocoagulation of communicating vessels in gestations with twin-twin transfusion syndrome (TTTS) to test its association with neurological ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4713
更新日期:2016-01-01 00:00:00
abstract::Superoxide dismutase (SOD: EC1.15.1.1) has been shown to increase in Down syndrome (DS) subjects and in amniotic fluid from DS affected pregnancies. In order to verify a possible increase of maternal serum SOD in DS affected pregnancies and its possible contribution in prenatal screening, the serum enzyme activity was...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:
更新日期:1999-11-01 00:00:00
abstract::There are a number of potential biochemical markers that may have some role in predicting renal function postnatally. These include urinary sodium, calcium and beta2-microglobulin. The latter may also be measured in fetal serum. However, the accuracy of these parameters at a point in time is far from perfect as urinar...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,评审
doi:10.1002/pd.212
更新日期:2001-11-01 00:00:00
abstract::Maternal uniparental disomy (UPD) 20 was found in a 35-month-old girl, the product of a pregnancy complicated by a prenatal diagnosis of mosaic trisomy 20. Phenotypic abnormalities included pre- and postnatal growth failure, microcephaly, minor dysmorphic features and psychomotor developmental delay. Chromosomal analy...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.158
更新日期:2001-10-01 00:00:00
abstract::Chemical and biochemical studies were performed on two unrelated fetuses affected with Niemann-Pick disease type A, following abortion at about the 19th week of gestation. Abortion was performed as a consequence of previous findings, in amniotic fluid cell cultures, that sphingomyelinase activity was completely absent...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970020306
更新日期:1982-07-01 00:00:00
abstract::Eight pregnancies at risk for cystic fibrosis have been monitored by first-trimester prenatal diagnosis with DNA amplification analysis. The polymerase chain reaction (PCR) was used in all cases to amplify the region detected by KM19. In two cases, the region detected by CS.7, another DNA probe tightly linked to the C...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970090508
更新日期:1989-05-01 00:00:00
abstract::We report a case of maternal uniparental disomy 2, detected through routine screening of placental karyotypes following the finding of 'atypical' AFP/hCG levels in the second trimester, with intrauterine growth retardation (IUGR) but otherwise normal outcome at term. Although the child remained small, subsequent early...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.143
更新日期:2001-10-01 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 develop a simulation model and assess the learning curve of fetal shunting. METHODS:Three staff and three trainees performed fetal shunting on a model using the fetal bladder stent. The model was evaluated according to various sources of validity evidence. The number of procedures to reach competency was...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.5599
更新日期:2019-12-01 00:00:00
abstract:OBJECTIVES:To present the prenatal genetic diagnoses and counseling for two cases of oculocutaneous albinism (OCA) type I family by detection of mutations in the OCA1 gene by denaturing high performance liquid chromatography (DHPLC) system and a review of the literature. METHODS:All DNA samples were extracted from per...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1439
更新日期:2006-05-01 00:00:00
abstract::We report on the prenatal diagnosis of ring chromosome 15 in a fetus with increased nuchal fold and intrauterine growth restriction (IUGR). A 27-year-old woman gravida 2, para 1 had normal maternal serum screen tests in the early second trimester of the index pregnancy. Fetal nuchal fold thickening up to 8 mm was inci...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.168
更新日期:2001-12-01 00:00:00
abstract::Few reports concerning intrauterine shunting are available. We investigated the impact of this method. In order to evaluate intrauterine shunting and the complication rate for different indications, we sent a questionnaire to all German-speaking level 3 centres. In four level 3 centres, 52 intrauterine catheters were ...
journal_title:Prenatal diagnosis
pub_type: 临床试验,杂志文章,多中心研究
doi:10.1002/pd.1970140910
更新日期:1994-09-01 00:00:00
abstract::An unusual case of apical diverticulum complicated by serous pericardial effusion and diagnosed ultrasonographically at 13 weeks of gestation is described. A therapeutic abortion was induced at 14 weeks and the complete post-mortem examination did not show additional malformation. Cardiac diverticulum is a rare malfor...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970150817
更新日期:1995-08-01 00:00:00
abstract:BACKGROUND:Posterior fossa abnormalities (PFAs) are commonly identified within routine screening and are a frequent indication for fetal magnetic resonance imaging (MRI). Although biometric measurements of the posterior fossa (PF) are established on fetal ultrasound and MRI, qualitative visual assessments are predomina...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,评审
doi:10.1002/pd.5874
更新日期:2020-11-29 00:00:00
abstract::Six cases are reported with discrepancies between the karyotypes of placental cells and cells from other fetal tissue. The respective findings were: 48, + 7, + 18 resp. 47, + 18. 46,i(18q) resp. 46,del18(p11). 46,XX resp. 46,XX/47,XXX. 46,X,Yq+ and 46,XY resp. 46,XY. 46/47, + 12 resp. 46. 46/47, + 5 resp. 46. These di...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970070508
更新日期:1987-06-01 00:00:00
abstract:OBJECTIVE:To describe brain imaging findings and outcomes in fetuses with confirmed congenital toxoplasmosis (CTX). METHODS:Physicians from Prenatal Diagnosis Units in ten Latin American countries were contacted and asked to provide data on fetuses with ultrasound findings suggestive of intrauterine infection and a po...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.2795
更新日期:2011-09-01 00:00:00
abstract:OBJECTIVE:Genetic carrier screening has the potential to identify couples at risk of having a child affected with an autosomal recessive or X-linked disorder. However, the current prevalence of carrier status for these conditions in developing countries is not well defined. This study assesses the prevalence of carrier...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.5656
更新日期:2020-04-01 00:00:00
abstract:OBJECTIVE:To assess whether existing weight correction formulas for PAPP-A and free-beta-hCG developed for weeks 11 to 14 can be applied to pregnancies in weeks 8 to 10. METHODS:Development of formulas based on limited data sets of 8- to 10-week pregnancies and comparison with existing formulas. Calculation of median ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1176
更新日期:2005-06-01 00:00:00
abstract:OBJECTIVES:To assess incidence and volume of fetomaternal hemorrhage (FMH) after chorionic villus sampling (CVS) by Kleihauer Betke test (KBT) and rise in maternal protein (MSAFP). METHODS:A prospective study was conducted on 61 cases requiring CVS. FMH due to CVS was assessed by KBT and MSAFP. RESULTS:Out of 61 case...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1632
更新日期:2007-02-01 00:00:00
abstract::In order to elucidate the consistency between generally used age-dependent risk values for Down syndrome (DS) and estimates of the probability of miscarriage in Down pregnancies we have compared expected numbers with estimated numbers of births with DS in Denmark had no intervention at all been carried out. The expect...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.113
更新日期:2001-08-01 00:00:00
abstract:OBJECTIVE:We sought to evaluate the impact of mode of delivery (MOD) on early outcome for neonates diagnosed prenatally with major forms of congenital heart disease (CHD). METHODS:We retrospectively studied infants admitted, over a 2-year period, to a single institution for cardiac intervention. Infants were grouped o...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.3991
更新日期:2012-12-01 00:00:00
abstract:OBJECTIVES:To determine if the ultrasound marker Nuchal Index (NIx) is gestational age independent, and to determine its specificity and sensitivity for Down syndrome (DS) identification. METHODS:Prospective cohort. A prospective database of fetal biometry and soft markers of aneuploidy was searched for fetuses with t...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.497
更新日期:2002-12-01 00:00:00
abstract:OBJECTIVES:This study was performed in order to provide a description of indications for induced elective terminations of pregnancy (ETOP), their characteristics (e.g. gestational age), and their evolution over time. DESIGN OF THE STUDY:This is an epidemiological study. The geographic area covered is the French county...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.711
更新日期:2003-11-01 00:00:00
abstract::A reliable cost-effective protocol for the diagnosis of various defective genes in single blastomeres from preimplantation embryos has been established. Single cells were lysed in alkali buffer followed by neutralization and addition of a solution containing a high concentration of sulfhydryl reducing agents and MgCl(...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/1097-0223(200012)20:12<979::aid-pd966>3.0.
更新日期:2000-12-01 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:Fetal face malformations represent one of the most challenging prenatal diagnoses mainly because of the wide range of morphological features involved. We tested an approach based on a combination of conventional two-dimensional ultrasound with the more recent three-dimensional technique plus magnetic resonan...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.925
更新日期:2004-07-01 00:00:00