Abstract:
OBJECTIVE:To determine the detection rates of whole-genome microarray technology compared to targeted microarray analysis for chromosome abnormalities in prenatal samples submitted for diagnostic testing. METHODS:Microarray analysis using either whole-genome bacterial artificial chromosome (BAC)-based and oligonucleotide (oligo)-based microarrays or targeted BAC microarrays was performed on 182 and 62 prenatal cases, respectively, from North American healthcare providers without previously known chromosome abnormalities or family history of a parent with a known chromosome rearrangement. RESULTS:Microarray analysis identified clinically significant chromosome alterations in 7 out of 182 (3.8%) prenatal specimens, two of which each had two unrelated abnormalities. After excluding two of the cases in which the abnormality would have been identified by routine karyotyping, the diagnostic yield of clinically significant findings was 5 out of 182 (2.7%). One case had a finding of unclear significance (0.5%) and 16 cases had benign copy number variants (CNVs) (8.8%). Targeted microarray analysis combined with previously published data demonstrated detection rates of 0.9% for clinically significant results, 0.5% for results of unclear significance, and 8.0% for benign CNVs. CONCLUSIONS:Whole-genome prenatal aCGH detected clinically significant submicroscopic chromosome abnormalities in addition to chromosome abnormalities that could be identified by concurrent karyotyping without an increase in unclear results or benign CNVs compared to targeted aCGH.
journal_name
Prenat Diagnjournal_title
Prenatal diagnosisauthors
Coppinger J,Alliman S,Lamb AN,Torchia BS,Bejjani BA,Shaffer LGdoi
10.1002/pd.2371subject
Has Abstractpub_date
2009-12-01 00:00:00pages
1156-66issue
12eissn
0197-3851issn
1097-0223journal_volume
29pub_type
杂志文章abstract::Current debates about sex selection start from a paradox: on the one hand, the 'liberal' argument in favour of sex selection is often thought to be sound; but on the other hand there is widespread public opposition to sex selection. So it is worth spending some time examining the arguments against sex selection. Four ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,评审
doi:10.1002/pd.1473
更新日期:2006-07-01 00:00:00
abstract:OBJECTIVE:Discussion of isolated ultrasound (US) markers for fetal aneuploidy can provoke significant patient anxiety. The objective of this study is to quantify maternal anxiety associated with the detection of these markers. METHODS:All patients undergoing routine second-trimester US examination for fetal anatomical...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1618
更新日期:2007-01-01 00:00:00
abstract::Although fetal cells have been known to escape to the maternal circulation for a number of years, research attempts to use them for prenatal diagnosis have not had any consistent success. This review attempts to trace the history of such attempts and to document their progress and reasons for success or failure. The o...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,评审
doi:10.1002/pd.705
更新日期:2003-10-01 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:OBJECTIVE:The objective of the study was to evaluate the performance of first trimester combined screening in cases of placental/fetal, mosaic or non-mosaic, autosomal trisomy other than trisomy 21, 18, or 13, and in cases of aneuploidy for a marker chromosome with focus on biochemical markers. METHOD:We identified 66...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4584
更新日期:2015-06-01 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::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::Amiodarone treatment in pregnancy might be difficult to handle because of the long half-life of the drug (14-28 days up to 2 months) and because it reduces maternal and neonatal thyroid activity. Although short-term use in pregnancy has been described in cases of fetal supraventricular tachycardia, there are few repor...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970120903
更新日期:1992-09-01 00:00:00
abstract:OBJECTIVES:To present prenatally detected mosaic tetrasomy for distal chromosome 15q and a review of the literature. CLINICAL SUBJECT AND METHODS:Amniocentesis was performed at 17 weeks' gestation because of advanced maternal age. Cytogenetic analysis revealed mosaicism for an analphoid supernumerary marker chromosome...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,评审
doi:10.1002/pd.977
更新日期:2004-10-01 00:00:00
abstract:OBJECTIVES:To add to the knowledge of chromosomal abnormalities associated with Dandy-Walker malformation. METHODS:Molecular cytogenetic analyses of a chorionic villus sampling and of an amniocentesis of a fetus with Dandy-Walker malformation and abnormal somatic development. RESULTS:All cells examined showed a 47, X...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.933
更新日期:2004-08-01 00:00:00
abstract::Authors of policy statements from the American College of Obstetricians and Gynecologists and from the Society for Maternal-Fetal Medicine do not acknowledge the potential for their clinical income to influence their opinions, or the positions of the societies they represent. These policy statements were published in ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.5209
更新日期:2018-02-01 00:00:00
abstract:OBJECTIVE:To determine the knowledge of pregnant women about prenatal tests, and what tests they would choose if offered. Also, the preference of pregnant women for second-trimester or first-trimester screening was assessed. PATIENTS AND METHODS:Pregnant women receiving antenatal care in a decentralized primary care s...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.358
更新日期:2002-07-01 00:00:00
abstract:OBJECTIVE:The purpose of this paper is to provide an overview of the 47, XXY syndrome, which is the most commonly occurring X and Y chromosomal variation. This paper seeks to review what is currently known of noninvasive prenatal testing (NIPT) and 47, XXY and investigate potential risks and benefits of prenatal identi...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,评审
doi:10.1002/pd.5044
更新日期:2017-05-01 00:00:00
abstract:OBJECTIVE:Evaluate patient choices and outcomes following positive cfDNA. METHOD:Retrospective cohort study of women with positive cfDNA through two academic centers between March 2012 and December 2014. Patients were screened based on ACOG indications. Medical records reviewed for counseling, ultrasound findings, dia...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4805
更新日期:2016-05-01 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:OBJECTIVES:A QF-PCR test has been developed to diagnose sex chromosome imbalances in prenatal samples and has been applied to a diagnostic service. METHODS:The test uses a PCR multiplex with eight primer pairs: six X-chromosome polymorphic markers, including two markers from Xp (a region not included in previously pub...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.569
更新日期:2003-03-01 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::Second trimester amniotic fluid fibrinolytic system was examined in normal pregnancies and those complicated by anencephaly, spina bifida and fetal chromosome abnormalities. No significant difference was demonstrated between the fibrinolytic systems from normal pregnancies and those complicated by fetal chromosome abn...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970030212
更新日期:1983-04-01 00:00:00
abstract::A case of gastric outlet obstruction diagnosed prenatally at 22 weeks' gestation is described. The differential diagnosis and the clinical management of this rare condition are discussed, and an updated literature review is presented. ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970140921
更新日期:1994-09-01 00:00:00
abstract::We report the first prenatal diagnosis of an affected fetus with Chediak-Higashi syndrome (CHS). Diagnosis was accomplished via fetal blood sampling at 17 menstrual weeks and was confirmed after birth. Retrospective measurement of the largest acid phosphatase-positive lysosomes in cultured amniotic fluid cells and cho...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970121105
更新日期:1992-11-01 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:BACKGROUND:An initial study of trisomy 21 cases showed that prior to 10 weeks, maternal serum levels of intact hCG in the early first trimester are lower than normal. Here we further study the levels prior to and after 10 weeks of gestation to further establish whether or not the intact hCG is effective as a very early...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.2148
更新日期:2008-12-01 00:00:00
abstract::Tyrosinaemia type I is caused by a deficiency of fumarylacetoacetate hydrolase and mainly affects the liver. This disease is characterized by the presence of a high level of succinylacetone. This metabolite has been used for prenatal diagnosis from amniotic fluid samples. One case with a normal level of succinylaceton...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/(sici)1097-0223(199901)19:1<61::aid-pd455>
更新日期:1999-01-01 00:00:00
abstract::Fetal karyotypes can be routinely obtained by chorionic villus biopsy, amniocentesis, or fetal blood sampling. Interpretation of results and subsequent counselling can be complicated by pseudomosaicism or mosaicism confined to the placenta or other tissues. We illustrate this by reporting a case of an abnormal fetus w...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970130308
更新日期:1993-03-01 00:00:00
abstract:OBJECTIVE:The objective of this study was to determine the contribution of uterine (UtA) and umbilical arteries (UA) Doppler examination at 28 weeks to predict adverse pregnancy outcomes in women who had increased resistance in UtA in the early second trimester. METHODS:Women with UtA mean pulsatility index (PI) above...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4542
更新日期:2015-03-01 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::The presence of two independent translocations in one person is rare. Herein, we report the prenatal diagnosis of two sibling fetuses with holoprosencephaly, whose father is a carrier of double translocations. The karyotype of the father is 46,XY, t(1;7) (q32;q32), t(14,15) (q32.1;q26.3). The two fetuses had variable ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.552
更新日期:2003-02-01 00:00:00
abstract::The significance of trisomy 20 mosaicism in cultured amniotic fluid cells is still confusing. We report a case of amniotic cell normal/trisomy 20 mosaicism diagnosed prenatally. The pregnancy was carried to term and a normal baby girl was delivered. The authors consider that in cases of amniotic fluid cell normal/tris...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970020312
更新日期:1982-07-01 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::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