Abstract:
OBJECTIVE:To study patient choice regarding testing for sex chromosome aneuploidy (SCA) and the performance of cell-free DNA (cfDNA) screening for SCA. METHODS:Patient choice regarding screening for SCA and factors influencing this choice were evaluated in a single center. In a subsequent two-center study, cases that screened positive for SCA were analyzed to determine the positive predictive value (PPV) for each SCA. RESULTS:In all, 1,957 (61.9%) of the 3,162 patients undergoing cfDNA testing opted for SCA screening. Regression analysis demonstrated that independent predictors of a patient's decision for SCA were earlier gestational age, spontaneous conception, and cfDNA chosen as a primary method of screening. A total of 161 cases screened positive for SCA and follow-up data were available for 118 (73.3%). Forty-six of the 61 cases of 45,X were false-positive results and 15 were concordant with the fetal karyotype (PPV = 24.6%). Seventeen of the 22 cases of 47,XXX were false positive and 5 concordant (PPV = 22.7%). Eleven of the 30 cases of 47,XXY were false positive and 19 concordant (PPV = 63.3%). All 5 cases of 47,XYY were correctly identified, thus yielding a PPV of 100%. CONCLUSION:More than half of the patients undergoing cfDNA aneuploidy screening also opted for SCA testing, but they were less likely to do so in the presence of an increased risk of trisomy. SCAs involving the X chromosome had a lower PPV than those involving the Y chromosome.
journal_name
Fetal Diagn Therjournal_title
Fetal diagnosis and therapyauthors
Bevilacqua E,Ordóñez E,Hurtado I,Rueda L,Mazzone E,Cirigliano V,Jani JCdoi
10.1159/000479507subject
Has Abstractpub_date
2018-01-01 00:00:00pages
98-104issue
2eissn
1015-3837issn
1421-9964pii
000479507journal_volume
44pub_type
杂志文章,多中心研究abstract:OBJECTIVE:The purpose of this study was to objectively evaluate prolonged fetal heart rate (FHR) monitoring, which has been difficult to do with conventional cardiotocogram (CTG). METHODS:FHR was analyzed by an artificial neural network computer that calculates probabilities of normal, pathologic and suspicious outcom...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000071982
更新日期:2003-09-01 00:00:00
abstract::We report a fetus scanned by color Doppler ultrasound at 37 weeks for suspicion of growth restriction with an extremely rare variation of duplicated middle cerebral artery. Three-dimensional color power Doppler and tomographic ultrasound imaging enhanced our incidental finding. ...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000309498
更新日期:2010-01-01 00:00:00
abstract:OBJECTIVE:To evaluate the impact of smoking and number of previous births on maternal serum levels of alpha-fetoprotein and free beta-subunit of human chorionic gonadotropin (free beta-hCG). METHODS:The study included 3,252 completed unaffected singleton pregnancies that proceeded beyond 37 weeks' gestation and result...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000047999
更新日期:2002-01-01 00:00:00
abstract:OBJECTIVE:To determine the value of routine transvaginal color Doppler assessment of the uterine arteries at 22-24 weeks of gestation in the prediction of placental insufficiency. METHODS:Women with singleton pregnancies scheduled for routine ultrasound scans at 22-24 weeks were offered Doppler assessment of the uteri...
journal_title:Fetal diagnosis and therapy
pub_type: 临床试验,杂志文章
doi:10.1159/000178141
更新日期:2008-01-01 00:00:00
abstract:BACKGROUND:There is no precise prenatal indicator to refine an accurate prognosis in case of sacral agenesis and to define the diagnostic approach and outcome criteria in case of fetal sacral agenesis using 3 characteristics of the conus medullaris (CM): its position, its appearance, and associated spinal abnormalities...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000451080
更新日期:2017-01-01 00:00:00
abstract:OBJECTIVE:We describe a technique to maintain amniotic fluid in fetuses with severe oligo-/anhydramnios secondary to lower urinary tract obstruction or fetal renal disease when urine production is inadequate to maintain a normal amniotic fluid volume (AFV). METHODS:An amnioport was inserted into the amniotic space. Th...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000445946
更新日期:2017-01-01 00:00:00
abstract:OBJECTIVE:To identify the fetal and neonatal imaging characteristics of meconium peritonitis (MP) and their clinical outcome. We also studied the role of prenatal ultrasound (US) in antenatal diagnosis and its use in predicting the need for surgical intervention postnatally. MATERIAL AND METHODS:We conducted a retrosp...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000449380
更新日期:2017-01-01 00:00:00
abstract:OBJECTIVE:To evaluate alterations of arterial and ductus venosus blood flow velocities during deterioration and their interdependence. METHODS:37 high-risk pregnancies complicated by umbilical absent or reverse end-diastolic flow velocities (AREDV) were monitored by measurement of the pulsatility index of the umbilica...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000069371
更新日期:2003-05-01 00:00:00
abstract::We present the first study that investigates the effect of maternal body mass index (BMI) on the quantity of circulating fetal cells available to use in cell-based noninvasive prenatal test (cbNIPT). cbNIPT has been proposed as a superior alternative to noninvasive prenatal test from cell-free fetal DNA. Kølvraa et al...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000492028
更新日期:2019-01-01 00:00:00
abstract:OBJECTIVES:We evaluated the hypothesis that in fetuses with congenital heart disease (CHD) there is a correlation between the expected pattern of in utero brain blood supply and the severity of neurodevelopmental impairment. METHODS:A total of 58 fetuses with CHD and 58 controls underwent a Doppler ultrasound and feta...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000439527
更新日期:2016-01-01 00:00:00
abstract::This report describes a fetus with a large multiloculated cystic liver mass. Two small abdominal cysts were seen on ultrasound at 19 weeks of gestation but the patient was referred to us at 23 weeks, after the mass had grown to 8.0 x 5.6 x 7.0 cm, displacing intra-abdominal organs, heart and diaphragm. There was a sma...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章,评审
doi:10.1159/000082439
更新日期:2005-03-01 00:00:00
abstract:OBJECTIVE:To assess the risk for preeclampsia (PE) by maternal characteristics, uterine artery pulsatility index (Ut-PI), mean arterial pressure (MAP), serum placental growth factor (PlGF) and soluble fms-like tyrosine kinase-1 (sFlt-1) at 30-33 weeks' gestation. METHODS:This was a screening study in singleton pregnan...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000362518
更新日期:2014-01-01 00:00:00
abstract::The incidence of chromosomal abnormalities in spontaneous abortions is much higher than commonly appreciated. Using postmortem chorionic villus sampling (as we have previously described), our much increased yield of results allows us to divide embryos into two groups based upon potential viability. Embryonic size at t...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000263821
更新日期:1993-05-01 00:00:00
abstract::We report prenatal diagnostic studies for metaphyseal chondrodysplasia of the Schmid type. Identification of a specific COL10A1 gene mutation in an affected father allowed prenatal diagnosis by chorionic villus sampling in a twin pregnancy. Neither of the nonidentical twins received the abnormal COL10A1 gene from thei...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000020831
更新日期:1998-05-01 00:00:00
abstract:OBJECTIVE:To assess the current problem of alloimmunization in a tertiary referral center in Croatia. The results obtained were compared to data published worldwide. METHODS:Retrospective case analysis included women with Rhesus (Rh) alloimmunization treated in our department from January 1997 to January 2003. Data of...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000086819
更新日期:2005-09-01 00:00:00
abstract:OBJECTIVE:The aim was to study the predictive value and feasibility of fetal scalp lactate microsampling in the management of non-reassuring fetal status during labor. METHODS:A prospective observational study was conducted on cord blood gas samplings from 7,617 singleton and cephalic deliveries at > or =37 weeks of g...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000262281
更新日期:2010-01-01 00:00:00
abstract::We herein reviewed 630 malformed fetuses delivered from 24 weeks of gestation onwards in our institute over the past 22 years. These fetuses were divided into 2 groups: 210 from 1970 to 1982 (group 1) and 420 from 1983 to 1991 (group 2). Twenty-two varieties of congenital malformations were diagnosed antenatally in gr...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000263857
更新日期:1993-11-01 00:00:00
abstract::We report a patient with a dichorionic triplet pregnancy complicated by Quintero stage IV twin-twin transfusion syndrome, presenting with hypertension and severe edema at 19 weeks of gestation. Sonography revealed one set of female twins with poly-/oligohydramnios sequence, the recipient twin showing hydropic changes,...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000106348
更新日期:2007-01-01 00:00:00
abstract:OBJECTIVE:To examine the outcomes of patients with twin reversed arterial perfusion (TRAP) sequence in which the acardiac twin was journal_title:Fetal diagnosis and therapy pub_type: 杂志文章 doi:10.1159/000295176 更新日期:2010-01-01 00:00:00
abstract::We present a case where the embryo showed an increased nuchal edema and a metabolic disorder. At 31 weeks of gestation the fetus developed a cardiomegaly and a hydrops. In this case, a long-chain 3-hydroxacyl-coenzyme A dehydrogenase deficiency (LCHAD deficiency) was confirmed by biochemical investigations in cultured...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000021029
更新日期:2000-11-01 00:00:00
abstract::Fetal dextrocardia is a type of cardiac malposition where the major axis from base to apex points to the right side. This condition is usually associated with a wide spectrum of complex cardiac defects. As a result, dextrocardia is conceptually difficult to understand and diagnose on prenatal ultrasound. The advantage...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章,评审
doi:10.1159/000468929
更新日期:2018-01-01 00:00:00
abstract:OBJECTIVE:To determine the effect of shipping blood in Streck blood collection tubes (BCT) prior to processing on cell-free DNA (cf-DNA) levels. METHODS:Blood was collected in ethylenediaminetetraacetic acid (EDTA) and BCT tubes from 10 pregnant women carrying male fetuses. One set of each tube for each subject was pr...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000335020
更新日期:2012-01-01 00:00:00
abstract:OBJECTIVES:To determine if: (1) human umbilical cord stem cells could survive for 20 h in extra-embryonic celomic fluid obtained at 40 days of development from baboon pregnancies by ultrasound-guided celocentesis and, (2) human hematopoietic stem cell survival could be enhanced by adding increasing concentrations of he...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000097112
更新日期:2007-01-01 00:00:00
abstract:OBJECTIVE:To measure levels of total plasma cysteine, homocysteine, cysteinylglycine and glutathione of normotensive primiparous pregnant women in the second and the third trimester. METHODS:Two consecutive blood samples were taken from 65 healthy primiparous women in the 19th to 21st weeks of pregnancy and then in th...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000100785
更新日期:2007-01-01 00:00:00
abstract:INTRODUCTION:The aim of this study was to describe the association between fetal echogenic bowel (FEB) diagnosed during the second trimester and adverse perinatal outcomes in an Australian antenatal population. METHODS:A retrospective analysis of ultrasound scans was performed between March 1, 2004 and March 1, 2009 a...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000336123
更新日期:2012-01-01 00:00:00
abstract::Functional cardiovascular assessment is becoming an increasingly important tool in the study of fetal pathology. The myocardial performance index (MPI) is a parameter measuring global myocardial function. Since its introduction, several studies have proposed methods to improve its reproducibility and have constructed ...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章,评审
doi:10.1159/000363181
更新日期:2015-01-01 00:00:00
abstract::Chorioangiomas are usually small, clinically inevident, benign vascular lesions of the placenta, but larger ones may cause serious perinatal and neonatal complications. There is need for in utero intervention in these fetuses. Several interventions are described to relieve pathophysiologic insult on fetus. Alcohol inj...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000098718
更新日期:2007-01-01 00:00:00
abstract:OBJECTIVE:To present an ethically justified decision-making pathway to use in the evaluation and treatment of pregnant women whose fetuses have twin-to-twin transfusion syndrome (TTTS). METHODS:The ethical principles of beneficence, autonomy and professional integrity were applied to the diagnostic and treatment optio...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000103292
更新日期:2007-01-01 00:00:00
abstract::We present here a case of transient anhydramnios due to premature rupture of the membranes observed from 19 weeks' gestation. At 27 weeks' gestation, the amniotic fluid had increased due to spontaneous membrane sealing. At 32 weeks' gestation, premature rupture of the membranes occurred again. A male fetus was deliver...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000151673
更新日期:2008-01-01 00:00:00
abstract:OBJECTIVE:To review the incidence of posthysterotomy chorioamniotic membrane separation and delivery outcome following open fetal surgery [myelomeningocele (MMC); cystic adenomatoid malformation (CCAM); congenital diaphragmatic hernia (CDH); sacrococcygeal teratoma (SCT)]. STUDY DESIGN:Retrospective review of a matern...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000071972
更新日期:2003-09-01 00:00:00