Abstract:
:Amniotic fluid samples received for routine prenatal diagnosis of open neural tube defects were used for a study to compare amniotic fluid acetylcholinesterase (AChE) determination using a monoclonal antibody (4F19) enzyme antigen immunoassay and amniotic fluid alpha-fetoprotein (AFP) measurement as diagnostic tests for open neural tube defects. The study was based on 9964 women with singleton pregnancies and known outcome (including 6 with anencephaly and 18 with open spina bifida) having an amniocentesis at 14-23 weeks of gestation. The AChE immunoassay yielded detection rates for anencephaly of 100 per cent (95 per cent confidence interval (CI) 54.07-100 per cent), for open spina bifida of 100 per cent (95 per cent CI 81.47-100 per cent), for anterior abdominal wall defects of 20 per cent (95 per cent CI 0.51-71.64 per cent), and a false-positive rate of 0.22 per cent (95 per cent CI 0.14-0.34 per cent) excluding anencephaly, open spina bifida, and anterior abdominal wall defects. For similar detection rates the false-positive rate of the AFP test was significantly higher, 0.74 per cent (95 per cent CI 0.58-0.94 per cent). On the basis of these findings, it is recommended that the technically simple AChE immunoassay should be used on all samples; the AFP test should only be used on the 0.5 per cent of the samples with concentrations of AChE activity > or = 8.5 nkat/l for clear samples and blood-stained samples becoming clear after centrifugation, and > or = 25.0 nkat/l for blood-stained samples that are discoloured after centrifugation; an AFP cut-off level of 2.0 MOM is recommended for this policy. Thereby, the detection rates for anencephaly, open spina bifida, and anterior abdominal wall defects would be 100, 100, and 20 per cent, respectively (95 per cent CIs 54.07-100, 81.47-100, and 0.51-71.64 per cent, respectively), and the false-positive rate would be 0.08 per cent (95 per cent CI 0.03-0.16 per cent) (excluding anencephaly, open spina bifida, and anterior abdominal wall defects).
journal_name
Prenat Diagnjournal_title
Prenatal diagnosisauthors
Loft AG,Høgdall E,Larsen SO,Nørgaard-Pedersen Bdoi
10.1002/pd.1970130204subject
Has Abstractpub_date
1993-02-01 00:00:00pages
93-109issue
2eissn
0197-3851issn
1097-0223journal_volume
13pub_type
杂志文章abstract::A mosaic chromosome complement, 46,XY/47,XY,+r(15), was detected at prenatal diagnosis. Family studies showed the mother and one of her two children to have a bisatellited supernumerary marker chromosome (SMC) in all lymphocytes examined. The maternal grandfather also showed a bisatellited SMC, but in only 2 per cent ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/(sici)1097-0223(199802)18:2<178::aid-pd233
更新日期:1998-02-01 00:00:00
abstract::A single base substitution in exon 10 of the glucocerebrosidase gene was detected in families affected by Gaucher disease (GD) type III. This mutation, which results in the substitution of proline for leucine in position 444 of glucocerebrosidase, has been shown to result in type III GD in a Swedish population. Three ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970120706
更新日期:1992-07-01 00:00:00
abstract::A prenatal diagnosis of arthrogryposis multiplex congenita (AMC) has been carried out on a 19-week-old fetus by means of echography. The ultrasonographic characteristics were unnatural position of the four limbs associated with articular anomalies together with absence of active fetal movements. A therapeutic interrup...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970130514
更新日期:1993-05-01 00:00:00
abstract:OBJECTIVE:We hypothesized that Doppler measurements of the placental and fetal central and peripheral hemodynamics would predict adverse outcomes in prolonged uncomplicated singleton pregnancies. METHOD:A total of 160 participants were recruited to this study. Doppler measurements of placental and fetal hemodynamics a...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4828
更新日期:2016-07-01 00:00:00
abstract:OBJECTIVE:Maternal serum pregnancy-associated plasma protein-A (PAPP-A) and free beta-human chorionic gonadotrophin (beta-hCG) are useful markers in the screening of Down syndrome in the first trimester. We investigated the effect of intracytoplasmic sperm injection (ICSI), freezing and thawing of embryos on the levels...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1169
更新日期:2005-05-01 00:00:00
abstract::As a preliminary step to preimplantation diagnosis of sickle cell disease in unfertilized eggs or 8-cell embryos of heterozygous parents, we established quality control for detection of the mutant and normal alleles of the beta-haemoglobin gene using single buccal cells. Efficient polymerase chain reaction (PCR) ampli...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970130107
更新日期:1993-01-01 00:00:00
abstract:OBJECTIVE:The objective of this article is to evaluate the efficacy of the first trimester sonomarkers (11-14 weeks) in predicting hemoglobin (Hb) Bart's disease among fetuses at risk MATERIALS AND METHODS:Prospective analysis was conducted on pregnancies at risk of fetal Hb Bart's disease at 11 to 14 weeks of gestati...
journal_title:Prenatal diagnosis
pub_type: 临床试验,杂志文章
doi:10.1002/pd.4293
更新日期:2014-03-01 00:00:00
abstract::A 17-year-old woman was referred for amniocentesis due to a low maternal serum alpha-fetoprotein (AFP) concentration in a voluntary screening test. The fetal karyotype was 48,XXYY, and the pregnancy was terminated. Autopsy of the fetus disclosed agenesis of the corpus callosum and unusual facial features. ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970140724
更新日期:1994-07-01 00:00:00
abstract::We encountered a fetus who exhibited transient (at most 30 s), repeated episodes of tachyarrhythmia (240 bpm). This female neonate was born at 36 weeks of gestation and showed a markedly prolonged QT interval and transient, repeated episodes of polymorphic ventricular tachycardia. Congenital long QT syndrome was diagn...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/(sici)1097-0223(199910)19:10<990::aid-pd67
更新日期:1999-10-01 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:OBJECTIVE:The objective of this study is to validate the diagnostic accuracy of a non-invasive prenatal test for detecting trisomies 13, 18, and 21 for a population in Germany and Switzerland. METHODS:Random massively parallel sequencing was applied using Illumina sequencing platform HiSeq2000. Fetal aneuploidies were...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4278
更新日期:2014-02-01 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:OBJECTIVE:The purpose of this study was to investigate the clinical value of velocity vector imaging (VVI) in the assessment of normal fetal regional myocardial performance and to establish a normative data set for normal Chinese fetuses. METHODS:One hundred and fifty-one healthy Chinese fetuses were divided into five...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.2386
更新日期:2009-12-01 00:00:00
abstract::Preimplantation genetic diagnosis (PGD) was developed more than a decade ago to offer an alternative to prenatal diagnosis for couples at risk of transmitting an inherited disease to their offspring. Portuguese-type familial amyloidotic polyneuropathy (FAP type I), is an autosomal dominant disease presenting an inheri...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.250
更新日期:2001-12-01 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::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: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::Three monoclonal antibodies (MAbs) against trophoblast (GB17, GB21, and GB25) and flow cytometry were used to sort trophoblast-like cells (TLCs) from peripheral blood of pregnant women. Sorted TLCs were processed for electron microscopy and fetal DNA amplification of the Y-specific sequences from mothers carrying male...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970111007
更新日期:1991-10-01 00:00:00
abstract::Consanguineous partners had a boy with campomelic dysplasia who died of increasing respiratory distress soon after birth. The next pregnancy was monitored frequently by ultrasonography and a healthy male infant was born at term. During a further pregnancy, ultrasonography suggested campomelic dysplasia in the 16th wee...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970050102
更新日期:1985-01-01 00:00:00
abstract::Osteogenesis imperfecta (OI) Type II was diagnosed accurately in an at-risk fetus at 16 weeks gestation by real-time sonography. The most important findings were shortening, deformity and possibly fracture in the long bones particularly the femurs. Ultrasonic visualization of these signs in a fetus at risk will provid...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970040314
更新日期:1984-05-01 00:00:00
abstract::A case of congenital short femur in an otherwise healthy infant is described. Antenatal sonographic diagnosis was made at 26 weeks of gestation. The left femur was shorter than the right (ratio 0.82-0.85). In this case, the occurrence of congenital short femur was sporadic. The diagnosis was confirmed after delivery. ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970100110
更新日期:1990-01-01 00:00:00
abstract:OBJECTIVES:Amniotic fluid stem cells (AFSCs) are derived from the amniotic fluid of the developing fetus and can give rise to diverse differentiated cells of ectoderm, mesoderm, and endoderm lineages. Intrauterine transplantation is an approach used to cure inherited genetic fetal defects during the gestation period of...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4334
更新日期:2014-05-01 00:00:00
abstract:OBJECTIVE:To determine the frequency of diagnostic indications among women seeking to terminate pregnancies for reasons of fetal abnormality, spontaneous fetal demise, or a genetic disorder in a private outpatient clinic specializing in late outpatient abortion procedures. METHOD:A total of 1005 women requested termin...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4324
更新日期:2014-05-01 00:00:00
abstract:OBJECTIVE:To describe prenatal magnetic resonance imaging (MRI) findings of dural sinus malformation (DSM), a very rare, congenital form of dural arteriovenous shunt (DAVS), typically affecting newborns. METHODS:Ultrasound (US) and MRI were performed at 34 weeks' gestation, and the findings of these examinations were ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1347
更新日期:2006-01-01 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::Four fetuses with a femur measuring greater than two standard deviations below the mean compared with the biparietal diameter are presented. These four fetuses were subsequently determined to have severe intrauterine growth retardation and no evidence of skeletal dysplasias. ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970130605
更新日期:1993-06-01 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:OBJECTIVE:The aim of the study was to analyze the risk of adverse pregnancy outcome in three subgroups with extremely low maternal pregnancy-associated plasma protein-A (PAPP-A), that is, <0.3 multiples of median (MoM) at the first trimester screening. METHOD:A cohort of 961 pregnancies with PAPP-A levels < 0.3 MoM at...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4946
更新日期:2016-12-01 00:00:00
abstract::FISH analysis of uncultured interphase amniotic fluid cells from a male fetus revealed two signals using an alpha-satellite X-chromosome DNA probe. One of the signals was much smaller than the other. It was subsequently shown that the normal sized signal was located on the X chromosome and the smaller signal was locat...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/(sici)1097-0223(199909)19:9<832::aid-pd653
更新日期:1999-09-01 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