Abstract:
OBJECTIVES:To describe women's preferences for prenatal testing outcomes and to explore their association with sociodemographic characteristics and attitudes. METHODS:We conducted a cross-sectional study of 584 racially/ethnically and socioeconomically diverse pregnant women aged 16 to 47 years recruited from 23 San Francisco Bay Area practices. We assessed preferences for 12 potential prenatal testing outcomes using the time trade-off metric for all outcomes and the standard gamble metric for two outcomes. Preferences were calculated on a scale of 0 (death) to 1 (perfect health). Participants also completed a sociodemographic and attitude survey. RESULTS:Highest preference scores were assigned to outcomes resulting in the birth of a chromosomally normal infant (mean = 0.91-0.93; median = 0.99-1.00). Lower scores were obtained for outcomes involving pregnancy loss (mean = 0.69-0.87; median = 0.76-0.92), which were correlated with attitudes regarding miscarriage, pregnancy termination, and Down syndrome. The lowest scores were assigned to Down syndrome-affected births (mean = 0.67-0.69; median = 0.73-0.75), which also were correlated with attitudes toward Down syndrome. We did not find a statistically significant relationship between participants' preference scores and age. CONCLUSION:Preferences for prenatal testing outcomes vary according to the pregnant women's underlying attitudes about pregnancy loss and Down syndrome, and not according to her age. Current age/risk-based guidelines should account for individual variation in patient preferences.
journal_name
Prenat Diagnjournal_title
Prenatal diagnosisauthors
Kuppermann M,Nease RF Jr,Gates E,Learman LA,Blumberg B,Gildengorin V,Washington AEdoi
10.1002/pd.892subject
Has Abstractpub_date
2004-06-01 00:00:00pages
424-9issue
6eissn
0197-3851issn
1097-0223journal_volume
24pub_type
杂志文章abstract:OBJECTIVE:This study introduces a novel method, referred to as SeqFF, for estimating the fetal DNA fraction in the plasma of pregnant women and to infer the underlying mechanism that allows for such statistical modeling. METHODS:Autosomal regional read counts from whole-genome massively parallel single-end sequencing ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4615
更新日期:2015-08-01 00:00:00
abstract::A comparative study of women who underwent prenatal cystic fibrosis (CF) carrier screening by either the 'two-step method' or the 'couple method' was carried out 2-4 years after testing. Recall of the screening test and test result, understanding of the implications of the test result, and reproductive intentions and ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/(sici)1097-0223(199709)17:9<853::aid-pd151
更新日期:1997-09-01 00:00:00
abstract::A de novo mosaic extra structurally abnormal chromosome (ESAC) was detected in 33 per cent of cultured amniotic fluid cells from a pregnant woman. Neither Q-banding nor fluorescence in situ hybridization (FISH) employing a DNA probe for nucleolar organizer region demonstrated the presence of satellites on the ESAC. Sp...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:
更新日期:1999-05-01 00:00:00
abstract::Based on the presence of immature cells in fetal blood, and in an attempt to shorten the cytogenetic reporting time, three simultaneous one-day culture regimes were established in 23 fetal blood samples: (a) the standard phytohemagglutinin (PHA)-stimulated lymphocytes culture, (b) a culture using the granulocyte-macro...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:
更新日期:1999-01-01 00:00:00
abstract::The sonographic diagnosis of duodenal atresia and associated anomalies was made in a fetus at 15 weeks' gestation. A transient double-bubble sign was observed in three other normal fetuses. Sonographers are cautioned that normal intestinal peristalsis may cause a false image of duodenal atresia. ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/(SICI)1097-0223(199606)16:6<564::AID-PD903
更新日期:1996-06-01 00:00:00
abstract:OBJECTIVE:To identify the correlation between the renal vascularization index (VI), the flow index (FI) and the vascularization and flow index (VFI) and placental and fetal hemodynamics in fetuses with growth restriction. METHOD:Bidimensional ultrasound and three-dimensional power Doppler with the VOCAL technique were...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.5099
更新日期:2017-08-01 00:00:00
abstract:OBJECTIVE:To evaluate the potential of maternal serum A Disintegrin And Metalloprotease 12-S (ADAM12s) as an additional marker for the combined test in the Dutch first-trimester national Down syndrome (DS) screening program. METHODS:Serum samples were collected between 2004 and 2007 as part of the national program. A ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.2300
更新日期:2009-09-01 00:00:00
abstract:OBJECTIVE:Placental cytogenetic studies may reveal the origin of discordant noninvasive prenatal testing (NIPT). We performed placental studies to elucidate discordances between NIPT showing a structural chromosome aberration and the fetus having a different chromosome aberration in three cases. METHOD:Diagnostic test...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.5531
更新日期:2019-10-01 00:00:00
abstract:OBJECTIVE:To determine whether abnormal levels of first-trimester maternal serum free β-hCG and PAPP-A are associated with significant copy number variants (CNVs) on chromosomal microarray analysis (CMA). METHODS:Retrospective cohort of singleton prenatal CMA studies (n = 2880). Cases with an abnormal karyotype, benig...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.5350
更新日期:2018-11-01 00:00:00
abstract::We investigated a case (I.I.) of the severe form of mucopolysaccharidosis I (Hurler syndrome). Prenatal diagnosis was requested by the parents and the next pregnancy was monitored. We report here a special difficulty arising in this diagnosis due to the low enzyme activity in the mother's cells (10-15 per cent of cont...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970050209
更新日期:1985-03-01 00:00:00
abstract::Multicystic dysplastic kidney disease (MDKD) is one of the most common congenital renal anomalies. We report 16 consecutive cases of MDKD recognized in the antenatal period by sonography. Diagnosis is usually easy as MDKD has in the vast majority of cases a striking ultrasound appearance including enlargement of the k...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970070207
更新日期:1987-02-01 00:00:00
abstract::We describe a fetus with a hypoplastic right ventricle detected by prenatal ultrasound examination. A possible causal relationship with prenatal valproate exposure is discussed. ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1098
更新日期:2005-02-01 00:00:00
abstract::We report cytogenetic results from a randomized Danish chorionic villus sampling (CVS) and amniocentesis (AC) study including 2928 placental and 1075 amniotic fluid specimens processed in the same laboratory. The results are presented in groups comparing CVS with amniocentesis and transabdominal (TA) CVS with transcer...
journal_title:Prenatal diagnosis
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1002/pd.1970130807
更新日期:1993-08-01 00:00:00
abstract::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 r...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.384
更新日期:2002-08-01 00:00:00
abstract:OBJECTIVE:To examine the ability of chorionic villus sampling (CVS) and fluorescence in situ hybridization (FISH) to detect aneuploidy before first trimester fetal reduction (FR) in sonographically normal-appearing fetuses. METHODS:A retrospective review of 470 patients referred to our unit for FR from January 2007-Ma...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4213
更新日期:2013-10-01 00:00:00
abstract::Prenatal diagnosis of Duchenne and Becker muscular dystrophy is performed as a routine procedure in many laboratories around the world, using numerous molecular genetic techniques. Rather than discussing methods that are commonly in use, this review concentrates on some of the methods that are less widely available. T...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,评审
doi:10.1002/(SICI)1097-0223(199612)16:13<1187::AID-PD9
更新日期:1996-12-01 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::The prenatal sonographic findings in two children with Aicardi syndrome are reported. ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:
更新日期:2000-04-01 00:00:00
abstract:OBJECTIVE:Barth Syndrome (BTHS) is an X-linked multisystem disorder (OMIM 302060) usually diagnosed in infancy and characterized by cardiac problems [dilated cardiomyopathy (DCM) ± endocardial fibroelastosis (EFE) ± left ventricular non-compaction (LVNC)], proximal myopathy, feeding problems, growth retardation, neutro...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.2599
更新日期:2010-10-01 00:00:00
abstract::Haemolytic disease of the fetus and newborn (HDFN) due to red cell alloimmunization was a significant cause of fetal and neonatal morbidity and mortality until the introduction of anti-D immunoglobulin, which has dramatically changed the incidence of the disease. However, it is still a major problem in affected pregna...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,评审
doi:10.1002/pd.2551
更新日期:2010-07-01 00:00:00
abstract::In a woman with a partial hydatidiform molar pregnancy with 69,XXY karyotype, the presence of male fetal cells of trophoblastic origin was demonstrated in maternal blood by X/Y-chromosome specific PCR and by immunostaining combined with FISH on two cell populations isolated from maternal blood. Blood was obtained thre...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.190
更新日期:2001-12-01 00:00:00
abstract::The aim of this study was to determine the prenatal fetal pyelectasis which requires postnatal evaluation. This was a retrospective analysis involving 65 infants with complete urological follow-up; 59 had shown prenatal evidence of pyelectasis using previously published standards. Males were more common in both the no...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/(sici)1097-0223(199705)17:5<451::aid-pd83>
更新日期:1997-05-01 00:00:00
abstract:OBJECTIVE:The objective of the study was to detect aneuploidy in single fetal nucleated red blood cells (FNRBCs) from placental villi using whole genome amplification (WGA) and next generation sequencing. METHODS:Three single FNRBCs per sample were manually picked from villi collected from ten women undergoing electiv...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4491
更新日期:2015-07-01 00:00:00
abstract:OBJECTIVES:Our objective is to report long-term outcome after fetal cystoscopy for lower urinary tract obstruction (LUTO), as well as to investigate the accuracy of fetal cystoscopy in diagnosing the cause of bladder outlet obstruction. METHODS:This is a retrospective cohort study of all fetuses who underwent cystosco...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4771
更新日期:2016-04-01 00:00:00
abstract:OBJECTIVE:We aimed to study the role of placental pathology in the prediction of preeclampsia (PE) recurrence. METHODS:The medical records and pathological placental reports of all women diagnosed with PE, during 2008-2015, were reviewed. The study population was divided according to the outcome of their subsequent pr...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4918
更新日期:2016-10-01 00:00:00
abstract::Twelve second-trimester fetuses with cystic hygroma underwent fetal blood sampling for rapid karyotyping, haematologic evaluation, and blood gas analysis. An abnormal karyotype was found in seven cases: monosomy X in five, trisomy 21 in one, and trisomy 13 in the other. Eight of ten fetuses undergoing blood gas analys...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970100309
更新日期:1990-03-01 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:OBJECTIVES:To replace G-banded chromosome analysis for miscarriage products with a combined molecular approach: QF-PCR and MLPA, to increase efficiency, reduce costs, and improve the diagnostic success rate for these samples. METHODS:A review of 10 years of karyotype results for miscarriages products indicated that 2....
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.2424
更新日期:2010-02-01 00:00:00
abstract::Data from 3611 consecutive CVS (TC, N = 1780; TA, N = 1831) were analysed with emphasis put on influence of maternal and gestational age at CVS on the fetal loss rate less than 28 weeks. For TC-CVS the gestational age varied from 9.3-11.6 weeks, for TA-CVS from 9.3-20 weeks. Sampling efficacy at first attempt was 86.5...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970110811
更新日期:1991-08-01 00:00:00
abstract:OBJECTIVE:To present a series of cases with a sonographic thick and heterogeneous placenta, and to review the literature. METHODS:A series of 16 cases were analyzed. A heterogeneous placenta was defined as a thick placenta with a patchy decrease of echogenicity, which quivered like jelly to sharp abdominal pressure. A...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,评审
doi:10.1002/pd.828
更新日期:2004-03-01 00:00:00