Abstract:
OBJECTIVE:Pregnant women who receive a high screening risk result for Down, Edwards or Patau syndrome are offered diagnostic tests that carry a risk of miscarriage. This study determined how many women had such tests per syndrome diagnosis. METHOD:The number of tests per Down, Edwards or Patau syndrome diagnosis adjusted for maternal and gestational age at diagnosis was calculated using routine data from 18 (95%) cytogenetic laboratories in England and Wales in 2008. RESULTS:There were 19,326 tests that identified 1118 diagnoses of Down syndrome and 615 of Edwards and Patau syndromes. There were eight chorionic villus samplings (CVS) per syndrome diagnosis compared with 16 amniocenteses (gestational age adjusted). The lowest number of tests per diagnosis (three for CVSs and for amniocentesis) resulted from an abnormal ultrasound scan. Among pregnant women, 2.9% had an invasive diagnostic test. If a CVS and an amniocentesis increase the risk of a miscarriage by 1% and 0.5%, respectively, approximately one miscarriage for every 14 Down, Edwards or Patau syndrome diagnosis would have occurred. CONCLUSION:A simple measurement of the population impact of screening for Down syndrome can be calculated using data already collected. Annual estimates should be produced to monitor the national fetal anomaly screening programme. © 2012 John Wiley & Sons, Ltd.
journal_name
Prenat Diagnjournal_title
Prenatal diagnosisauthors
Morris JK,Waters JJ,de Souza Edoi
10.1002/pd.3866subject
Has Abstractpub_date
2012-06-01 00:00:00pages
596-601issue
6eissn
0197-3851issn
1097-0223journal_volume
32pub_type
杂志文章abstract:OBJECTIVE:Little is known about the obstetric care of an ongoing pregnancy with trisomy 21. We sought to ascertain an obstetric profile for pregnancies with Down syndrome to help guide prenatal management. METHOD:Pregnancies managed for delivery with trisomy 21 between 2003 and 2014 were analyzed. We reviewed demograp...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.5054
更新日期:2017-07-01 00:00:00
abstract::Fetal triploidy is commonly found in early pregnancy. The majority of these pregnancies spontaneously abort in the first trimester. Occasionally, the pregnancy progresses to the second and third trimesters. We reviewed the maternal serum alpha-fetoprotein (MSAFP), amniotic fluid alpha-fetoprotein (AFP), amniotic fluid...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970091005
更新日期:1989-10-01 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: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::Toriello-Carey syndrome is a rare malformative complex, described for the first time in 1988, characterized by agenesis of the corpus callosum, facial anomalies, cardiac defects and hypotonia. Relatively few neonatal cases have been reported. We describe here the first prenatal ultrasound diagnosis of the syndrome bas...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.488
更新日期:2002-12-01 00:00:00
abstract::This paper reports prenatal diagnosis of 787 fetuses of beta-thalassaemia and other haemoglobinopathies in Indian high-risk communities. DNA based diagnosis was offered in the first, as well as the second trimester, in 489 pregnancies (with five twins) on fetal tissues such as chorionic villus (CV) and amniocytes usin...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:
更新日期:2000-03-01 00:00:00
abstract:OBJECTIVE:We sought to compare the fetal nasal bone length (FNBL) between different ethnic groups at 11-14 weeks' gestation. METHODS:FNBL and the FNBL/CRL ratio were measured in patients undergoing first trimester ultrasound for nuchal translucency (NT) and the ethnicity of the patient was recorded under four categori...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1195
更新日期:2005-08-01 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::Cytogenetic studies of cultured amniocytes demonstrated a karyotype of 46,XX/47,XX, +mar. A bisatellited, dicentric, distamycin-DAPI negative, NOR-positive marker was present in 76 per cent of the metaphases examined. Similar markers have been associated with cat eye syndrome (CES). We report on the utilization of flu...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970141104
更新日期:1994-11-01 00:00:00
abstract::Activity levels of total and placental alkaline phosphatase (AP) were determined in maternal serum and neutrophils of normal and Down syndrome pregnancies. The placental iso-enzyme (PAP) was identified by its relative stability to urea and heat. Significant increase in the activity of all iso-enzymes across gestationa...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:
更新日期:1999-03-01 00:00:00
abstract::Based on 9350 pregnant Japanese women who were screened by serum triple-marker determination, accuracy of predicted risk for Down syndrome was examined using 24 Down syndrome cases detected either prenatally or postnatally. The correlation is statistically very high (r = 0.98) between the predicted risks and the preva...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:
更新日期:1998-09-01 00:00:00
abstract:OBJECTIVE:To determine the visualization rates of fetal anatomic structures by three-dimensional ultrasound (3DUS) at 12-13 weeks of gestation. STUDY DESIGN:This was a prospective observational study of women presenting for nuchal translucency ultrasound. Five 3D volumes of the fetus were acquired transabdominally. Tw...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.2446
更新日期:2010-03-01 00:00:00
abstract:OBJECTIVES:Hysterotomy scar disruption, ranging from myometrial thinning to complete dehiscence, is a well-established complication of open-hysterotomy fetal myelomeningocele (MMC) repair. This study sought to (a) determine the feasibility of postoperative magnetic resonance imaging (MRI) in detecting signs of hysterot...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.5565
更新日期:2020-01-01 00:00:00
abstract::Study of different tissues of an aborted female fetus showed similar levels of fragile-X expression (6.3-9.2 per cent) and of early replication of the FRAXA-positive cells (50-66 per cent) in fetal tissues. Different culture media did not significantly affect either investigation. It is suggested that the distribution...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970110510
更新日期:1991-05-01 00:00:00
abstract:OBJECTIVE:Ventriculomegaly (VM) is the most common brain anomaly in prenatal ultrasound (US) diagnosis. There is a general trend to perform fetal magnetic resonance imaging (MRI) when VM is severe (greater than 15 mm) and/or it is not isolated. The role of MRI is debated when VM is borderline (between 10 and 15 mm) and...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.3896
更新日期:2012-08-01 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::Inexpensive and accurate carrier testing for cystic fibrosis (CF) will be possible in the near future. There are no existing studies on the attitudes of English persons in the community to carrier testing for CF or any other recessive disorder. We have conducted a trial study of 166 persons at two schools, two doctors...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970091008
更新日期:1989-10-01 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::A complex chromosome rearrangement, apparently a balanced translocation involving chromosomes 4, 6, 15 and 16, was found in cultured cells of amniotic fluid from a 32-year-old primigravida who requested amniocentesis for prenatal diagnosis because of a family history of mental retardation. Chromosome analysis of perip...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970060308
更新日期:1986-05-01 00:00:00
abstract:OBJECTIVE:To establish the relationship between the first-trimester screening markers [pregnancy-associated plasma protein A (PAPP-A), free human chorionic gonadotrophin-beta (beta-hCG), nuchal translucency (NT)], the Down syndrome (DS) risk estimate, and the adverse outcomes such as low birth weight, small for gestati...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1946
更新日期:2008-03-01 00:00:00
abstract::Maternal serum free beta (hCG) levels are elevated (median 2.20 MOM) in the first trimester of pregnancy in 38 Down syndrome cases as compared with appropriate controls. This observation may form the basis for its use as a marker in screening for Down syndrome in the first trimester. Altered levels of the free beta an...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970130704
更新日期:1993-07-01 00:00:00
abstract::Anomalies of the thorax and abdomen can be found in a number of genetic syndromes. Whilst it may not be possible to make a definitive diagnosis before birth, knowledge of the potential associations can be useful for the prenatal diagnostician when examining the fetus and counselling the parents. In this article, we de...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,评审
doi:10.1002/pd.2023
更新日期:2008-07-01 00:00:00
abstract::Gas chromatographic/mass spectrometric (GC/MS) analysis of maternal urine and serum steroids from 13 pregnancies at 25% risk for Smith-Lemli-Opitz syndrome (SLOS) was undertaken. All patients were between 12 and 31 weeks' gestational age. From dehydrocholesterol/cholesterol ratios determined in amniotic fluid and chor...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/1097-0223(200103)21:3<207::aid-pd27>3.0.co
更新日期:2001-03-01 00:00:00
abstract:OBJECTIVES:To identify expressed sequence tag (EST) clusters preferentially expressed in placentas. METHODS:The National Center for Biotechnology's online UniGene database contains 14 placenta libraries. In silico (computer-based) subtraction compared placenta libraries against the remaining libraries to identify tran...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.608
更新日期:2003-05-01 00:00:00
abstract::An i(Yp) is a rare marker chromosome. We present a case of de novo 46,X,i(Yp) detected prenatally in an amniotic fluid specimen. Fluorescence in situ hybridization (FISH) studies using a panel of Y-specific biotinylated DNA probes identified the marker chromosome as i(Yp). Comparative genomic hybridization (CGH) studi...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970151206
更新日期:1995-12-01 00:00:00
abstract::A child was tentatively diagnosed as having cystic fibrosis, based on neonatal presentation with severe gastrointestinal complications; the diagnosis was not confirmed biochemically and no tissues were available for DNA analysis. The mother presented in her subsequent pregnancy, and microvillar enzyme analysis of cell...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970100911
更新日期:1990-09-01 00:00:00
abstract::Respiratory chain deficiency (RCD) is responsible for a clinically heterogeneous group of early-onset untreatable disorders. Enzymological prenatal diagnosis (PD) can only be offered to a fraction of families. Moreover, due to the two-fold genetic origin of the respiratory chain (nuclear and mitochondrial DNA) and owi...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.126
更新日期:2001-07-01 00:00:00
abstract::Maternal serum CA 125 levels were determined at 9-11 menstrual weeks for 26 cases of trisomy 13 (n = 4), trisomy 18 (n = 7), trisomy 21 (n = 15), and appropriate controls. There were no statistically significant differences between groups. ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970120911
更新日期:1992-09-01 00:00:00
abstract:OBJECTIVE:Ethical and counseling challenges are expected with the introduction of prenatal whole exome sequencing. In this study, we describe specific challenges identified through the UNC-Chapel Hill Prenatal Exome Sequencing Study. METHODS:Participants were a subset of women participating in the fetal exome study, w...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.5353
更新日期:2018-11-01 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