Abstract:
OBJECTIVES:To review the accuracy of self-reporting of smoking status in our first trimester screening population and to assess the levels of pregnancy-associated plasma protein-A (PAPP-A) and free-β human chorionic gonadotropin (free-hCGβ) in women who were classified for smoking status by serum cotinine concentrations and self-reporting. METHODS:Cotinine concentration was determined in the stored serum 696 self-reported smokers and 442 self-reported non-smokers. PAPP-A and free-hCGβ multiples of the medians (MoMs) determined at screening were reverted to uncorrected for self-reported smoking status. RESULTS:A total of 21.7% of those self-reporting as non-smokers had increased serum cotinine concentrations (using a cut-off of 13.7 ng/mL), indicating a positive smoking status. This under-reporting meant that serum PAPP-A and free-hCGβ MoMs were greater reduced in smokers classified by cotinine levels (17.2% and 9.7%) than in those classified by self-reporting (14.6% and 2.8%). Women who were classified as smokers at conception but had stopped at some time afterwards did not have significantly reduced marker MoMs to non-smokers. CONCLUSIONS:Self-reporting results in under-representation of smoking in our population, resulting in a significant bias and inflated screen-positive rates.
journal_name
Prenat Diagnjournal_title
Prenatal diagnosisauthors
Spencer K,Cowans NJdoi
10.1002/pd.4053subject
Has Abstractpub_date
2013-03-01 00:00:00pages
245-50issue
3eissn
0197-3851issn
1097-0223journal_volume
33pub_type
杂志文章abstract::We report a case of a fetal haemangioblastoma located in the cerebellopontine angle. On prenatal ultrasonographic examination a hyperechogenic and heterogeneous mass with a major vascularization on colour Doppler imaging was observed. It increased progressively and laminated the cerebellum. A neoplastic tumour was sus...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,评审
doi:10.1002/pd.452
更新日期:2002-11-01 00:00:00
abstract:OBJECTIVES:The objective of this article is to investigate whether sonographic identification of the fetal anal mucosa (AM) can assist in the diagnosis of anal atresia (AA) in fetuses referred for congenital anomalies of kidney and urinary tract (CAKUT) malformation. METHODS:During a 3-year study period, 245 fetuses r...
journal_title:Prenatal diagnosis
pub_type: 临床试验,杂志文章
doi:10.1002/pd.4472
更新日期:2014-12-01 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:OBJECTIVE:This study aimed to determine if screening for preeclampsia could be improved between 20 and 24 weeks of gestation by uterine artery Doppler (UAD), biomarkers and lipid-related markers. METHOD:Women at high risk of preeclampsia according to obstetric and medical characteristics and history were prospectively...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4198
更新日期:2013-11-01 00:00:00
abstract::This paper reports our experience of molecular analysis and diagnosis of beta-thalassaemia and sickle cell anaemia (HbS) in 70 prospective parents of Turkish descent and their fetuses. Molecular screening was carried out by allele-specific oligonucleotide (ASO) hybridization of amplified DNA to the 12 most common muta...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/(SICI)1097-0223(199603)16:3<252::AID-PD839
更新日期:1996-03-01 00:00:00
abstract:OBJECTIVES:To assess the attitudes of health professionals in Lebanon towards prenatal diagnosis and termination of pregnancy, for a series of genetic, non-genetic and non-medical conditions. METHODS:A total of 158 questionnaires were sent to geneticists, family doctors, pediatricians and obstetricians/gynecologists, ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.429
更新日期:2002-10-01 00:00:00
abstract:OBJECTIVES:To study the clinical, emotional and moral difficulties that French midwives encounter in the labor ward while performing termination of pregnancy (TOP) for fetal abnormality. SETTING:Six public maternity hospitals located in the Ile de France region, two of which were referral centers for prenatal diagnosi...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1755
更新日期:2007-07-01 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:OBJECTIVES:We aim to develop non-invasive prenatal diagnosis (NIPD) for cystic fibrosis (CF) and determine costs and implications for implementation. METHODS:A next-generation sequencing assay was developed to detect ten common CF mutations for exclusion of the paternal mutation in maternal plasma. Using uptake data f...
journal_title:Prenatal diagnosis
pub_type: 临床试验,杂志文章
doi:10.1002/pd.4585
更新日期:2015-10-01 00:00:00
abstract::Sacrococcygeal teratoma (SCT) is one of the most common tumors in newborns with a birth prevalence of up to 1 in 21,700 births. Routine fetal anomaly screening programs allow for prenatal diagnosis in many cases. Fetal ultrasound with Doppler evaluation and more recently magnetic resonance imaging may be used to docum...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,评审
doi:10.1002/pd.2781
更新日期:2011-07-01 00:00:00
abstract::A polymorphic short tandem repeat (STR) in intron 3 (Goltsov et al., 1993) and a variable number of tandem repeats (Hind III-VNTR) flanked by two constant Hind III sites (Golstov et al., 1992) have been recently identified in the human phenylalanine hydroxylase (PAH) gene. These polymorphisms are easily detected by th...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970141011
更新日期:1994-10-01 00:00:00
abstract::Two consecutive pregnancies in a woman with initially undiagnosed type I distal arthrogryposis (DA) are reported. A prenatal diagnosis of the condition was made by ultrasound in the 17th week of gestation in one of the pregnancies, whereas in the subsequent pregnancy the disorder was excluded as early as 13 weeks' ges...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970121211
更新日期:1992-12-01 00:00:00
abstract::The pregnancy outcome of 1936 women who had transcervical chorionic villus sampling (CVS) with a flexible biopsy forceps was evaluated. Follow-up until 4 weeks after delivery was 99.4 per cent. Various patient- and procedure-related risk factors for spontaneous loss (fetal or neonatal death) were analysed using stepwi...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970150904
更新日期:1995-09-01 00:00:00
abstract::Published studies have reached varying conclusions as to the benefit of replacing human chorionic gonadotropin (hCG) measurements with the free beta-subunit of hCG (the free beta-subunit) for Down syndrome screening. One study reports 14 per cent higher detection for the free beta-subunit, while another finds an actua...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:
更新日期:1998-03-01 00:00:00
abstract::Single umbilical artery is among the most common funicular vascular anomalies. In contrast, umbilical artery stenosis is rare, and has only been reported in three-vessel cords. We describe a case of single umbilical artery stenosis in a fetus with no associated malformations. Intrauterine fetal death occurred at 28 we...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.316
更新日期:2002-03-01 00:00:00
abstract::Counselling in connection with prenatal diagnosis (PND) is a common task for the obstetrician and the midwife. However, the decision making processes of pregnant women are not completely known, for instance, the questions of women's autonomy, the decision on how to act in the case of an abnormal test, and the partner'...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970080404
更新日期:1988-05-01 00:00:00
abstract:OBJECTIVE:The aim of this study was to assess the effect of fetal sex on the accuracy of multiple formulas for sonographic estimation fetal weight (SEFW). METHODS:The cohort included all singleton live births recorded at a single medical center from January 2004 to September 2011. The accuracy of SEFW was compared bet...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4482
更新日期:2014-12-01 00:00:00
abstract::During prenatal diagnosis for advanced maternal age, a pericentric inversion of a chromosome 19 was detected in a male fetus. The inversion was familial, transmitted to the fetus by the phenotypically normal mother. The pregnancy resulted in a term birth of a phenotypically normal male infant. Inversion 19 appears to ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970060111
更新日期:1986-01-01 00:00:00
abstract:BACKGROUND:Fetal cells in maternal blood still present an enticing alternative for the development of a safe and efficacious non-invasive method for prenatal diagnosis. However, most enrichment methods are very tedious and have failed to realise this long sought after goal. We developed a simple, robust TaqMan real-tim...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1521
更新日期:2006-09-01 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:OBJECTIVE:The FASTER trial compared first and second trimester screening methods for aneuploidy. We examined relationships between maternal serum markers and common congenital anomalies in the pediatric outcome data set of 36 837 subjects. METHODS:We used nested case-control studies, with cases defined by the most com...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,多中心研究
doi:10.1002/pd.2082
更新日期:2008-12-01 00:00:00
abstract::In the first trimester of pregnancy the biochemical markers free beta-hCG and pregnancy associated plasma protein-A (PAPP-A) are used for the prenatal screening of trisomy 21, either alone or in combination with nuchal translucency (NT) thickness. In this study, I have analysed the distribution of these biochemical ma...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/(sici)1097-0223(200002)20:2<91::aid-pd759>
更新日期:2000-02-01 00:00:00
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: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:OBJECTIVE:Non-invasive prenatal diagnosis of chromosome aneuploidies has been achieved by measuring the ratio of two alleles of a single nucleotide polymorphism (SNP) in circulating placental mRNA (the RNA-SNP allelic ratio approach) in maternal plasma. We investigated the feasibility of applying this approach for the ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.2340
更新日期:2009-11-01 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::The aim of this study was to evaluate the detection of fetal structural abnormalities by the 11-14 week scan. 2853 pregnant women were submitted to a routine ultrasound scan between the 11th and 14th week and the fetal skull, brain, spine, abdominal wall, limbs, stomach and bladder were examined. Following the scans t...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.200
更新日期:2002-01-01 00:00:00
abstract:OBJECTIVE:Whole-genome sequencing of circulating cell free (ccf) DNA from maternal plasma has enabled noninvasive prenatal testing for common autosomal aneuploidies. The purpose of this study was to extend the detection to include common sex chromosome aneuploidies (SCAs): [47,XXX], [45,X], [47,XXY], and [47,XYY] syndr...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4127
更新日期:2013-06-01 00:00:00
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::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