Abstract:
OBJECTIVES:To evaluate the failure rate and performance of cell-free DNA (cfDNA) testing, mainly in terms of detection rates for trisomy 21, performed by 2 laboratories using different analytical methods. METHODS:cfDNA testing was performed on 2,870 pregnancies with the HarmonyTM Prenatal Test using the targeted digital analysis of selected regions (DANSR) method, and on 2,635 pregnancies with the "Cerba test" using the genome-wide massively parallel sequencing (GW-MPS) method, with available outcomes. Propensity score analysis was used to match patients between the 2 groups. A comparison of the detection rates for trisomy 21 between the 2 laboratories was made. RESULTS:In all, 2,811 patients in the Harmony group and 2,530 patients in the Cerba group had no trisomy 21, 18, or 13. Postmatched comparisons of the patient characteristics indicated a higher no-result rate in the Harmony group (1.30%) than in the Cerba group (0.75%; p = 0.039). All 41 cases of trisomy 21 in the Harmony group and 93 cases in the Cerba group were detected. CONCLUSIONS:Both methods of cfDNA testing showed low no-result rates and a comparable performance in detecting trisomy 21; yet GW-MPS had a slightly lower no-result rate than the DANSR method.
journal_name
Fetal Diagn Therjournal_title
Fetal diagnosis and therapyauthors
Bevilacqua E,Jani JC,Letourneau A,Duiella SF,Kleinfinger P,Lohmann L,Resta S,Cos Sanchez T,Fils JF,Mirra M,Benachi A,Costa JMdoi
10.1159/000489124subject
Has Abstractpub_date
2019-01-01 00:00:00pages
302-311issue
5eissn
1015-3837issn
1421-9964pii
000489124journal_volume
45pub_type
杂志文章abstract:INTRODUCTION:To determine the accuracy of estimated fetal weight (EFW) at the limit of viability in a delivery room setting and its impact on the prediction of neonatal outcome. MATERIAL AND METHODS:In this retrospective, single-center cohort study we included patients with preterm birth between 230/7 and 260/7 weeks ...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000450943
更新日期:2017-01-01 00:00:00
abstract::The objective of this report was to evaluate the effect of ultrasonographic (US) findings on pregnancy management in patients with marker chromosome (MC) aneuploidy ascertained through prenatal diagnosis. From 1989 through June 1993, 15,522 prenatal diagnostic procedures were performed for accepted indications. Charts...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000264230
更新日期:1995-05-01 00:00:00
abstract::Two cases of lissencephaly were prenatally diagnosed by a magnetic resonance image (MRI). Smooth surface of brain and remarkable sylvian fissure, which were barely detectable by ultrasound, were easily observed in MRI. MRI is the most appropriate tool in diagnosing lissencephaly. ...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000263748
更新日期:1993-01-01 00:00:00
abstract:INTRODUCTION:Chronic reduction of oxygen and nutrient delivery to the fetus has been related to neurodevelopmental problems. Placental underperfusion induces a significant reduction in oxygen and nutrient delivery, whereas maternal undernutrition causes mainly nutrient deficiency. A comparison of the neurodevelopmental...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000454859
更新日期:2017-01-01 00:00:00
abstract:INTRODUCTION:We sought to determine the relationship between the degree of stomach herniation by antenatal sonography and neonatal outcomes in fetuses with isolated left-sided congenital diaphragmatic hernia (CDH). MATERIALS AND METHODS:We retrospectively reviewed neonatal medical records and antenatal sonography of f...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000440649
更新日期:2016-01-01 00:00:00
abstract:OBJECTIVES:Investigate the prediction of birth acidemia in pregnancies with placental insufficiency using two newly created venous-arterial Doppler ratios: pulsatility index (PI) of the ductus venosus (DV) over PI of the middle cerebral artery (MCA) and PI of the DV over PI of the umbilical artery and establish cut-off...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000093883
更新日期:2006-01-01 00:00:00
abstract:INTRODUCTION:The aim of this study is to evaluate the incidence and causes of intentional fetal and neonatal demise in twin-twin transfusion syndrome (TTTS). MATERIAL AND METHODS:All TTTS pregnancies managed at our centre between 2000 and 2014 were included. We evaluated incidence and causes of intentional fetal/neona...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000461580
更新日期:2018-01-01 00:00:00
abstract:OBJECTIVES:Assessment of the dimensions of the cardiac chambers and the great arteries in the human fetus may be helpful in the prenatal diagnosis of congenital heart disease. The purpose of this prospective cross-sectional study was to compile normative data in fetal cardiac measurements in early pregnancy. The struct...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000020970
更新日期:2000-01-01 00:00:00
abstract:OBJECTIVE:Separation of Macrosomic, normal and intrauterine growth retarded (IUGR) neonates using the modified Neonatal Growth Assessment Score (NGAS). METHODS:A sample of 23 neonates with evidence of growth acceleration and 74 neonates classified as normal or IUGR in a previous study was used in this investigation. T...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000074262
更新日期:2004-01-01 00:00:00
abstract:OBJECTIVE:We report the first case of thanatophoric dysplasia (TD) successfully diagnosed in utero by a combination of 2-D ultrasound, computed tomography (CT) 3-D imaging and genetic analysis at 26 weeks' gestation. METHODS:Prenatal sonographic examinations performed at 23 weeks' gestation revealed micromelic shorten...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000170092
更新日期:2008-01-01 00:00:00
abstract::Single fetal death in a twin pregnancy in the late second or early third trimester is associated with significant morbidity and mortality rate in the surviving co-twin, especially in monochorionic twin pregnancies. The common causes are twin-to-twin transfusion syndrome, chromosomal abnormalities, and congenital anoma...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000082429
更新日期:2005-03-01 00:00:00
abstract:BACKGROUND:In newborn the finding of adrenal gland hemorrhage is not uncommon. Only few cases of prenatal diagnosis of fetal adrenal bleeding by sonography have been reported. CASE:In a 28-year-old nulliparous pregnant woman, routine sonography performed in 35 + 2 weeks of gestational age showed a cystic mass on the u...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000264316
更新日期:1996-07-01 00:00:00
abstract:OBJECTIVE:Understanding the pathomechanisms underlying high meconium calprotectin concentrations is the key to the potential uses of this parameter for the assessment of the intrauterine environment in which the fetus develops. The aim of this study was to measure calprotectin concentrations in serial meconium portions...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000472150
更新日期:2018-01-01 00:00:00
abstract::Intrauterine growth restriction (IUGR) is an adverse pregnancy outcome associated with significant perinatal and pediatric morbidity and mortality, and an increased risk of chronic disease later in adult life. While a number of maternal, fetal and environmental factors are known causes of IUGR, the majority of IUGR ca...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章,评审
doi:10.1159/000339657
更新日期:2012-01-01 00:00:00
abstract::We herein report the first ultrasound evidence of the self-amputation of an extra digit in case of fetal polydactyly. The prenatal evidence of fetal polydactyly is not always followed by postnatal confirmation. This is not always due to ultrasound misdiagnosis, but often to an in utero self-amputation phenomenon. We d...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000464462
更新日期:2017-01-01 00:00:00
abstract:OBJECTIVES:To determine whether brachial artery flow-mediated dilation (FMD) assessed by ultrasonography during the late first trimester is able to predict the occurrence of hypertensive disorders during pregnancy. METHODS:Maternal endothelial function was assessed by flow-mediated dilation (FMD) of the brachial arter...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000366059
更新日期:2015-01-01 00:00:00
abstract:OBJECTIVE:The management of a case of severe twin-to-twin transfusion syndrome at 24 weeks of gestation is presented, using a combined surgical and medical approach. METHODS:Operative fetoscopy was used to coagulate placental vessels crossing the intertwin membranes. Repeated intrauterine transfusions were used to cor...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000020809
更新日期:1998-03-01 00:00:00
abstract::The objectives of the study were to assess the ability of a fetal pulse oximeter to measure the fetal oxygen saturation (SPO2) continuously during labor and to assess the correlation between readings of fetal pulse oximetry and cord blood gases at birth. The Nellcor N-400 Fetal Oximeter was used in 62 women prospectiv...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000264277
更新日期:1996-01-01 00:00:00
abstract:OBJECTIVE:The aim of this study was to create an animal model of obstructive ventriculomegaly in the fetal lamb at 78 days of gestation by injecting maternal blood into the lateral ventricles under ultrasound guidance. METHODS:An endoscope of 1.2 mm housed in a 1.6-mm trocar was introduced into the dilated lateral ven...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000086829
更新日期:2005-09-01 00:00:00
abstract::Vein of Galen aneurysmal malformations are rarely seen intracranial malformations. They represent less than 1% of the cerebral arteriovenous malformations. Prenatal diagnosis of an arteriovenous fistula malformation may be achieved by real-time and Doppler sonography with color flow imaging, by identifying dilated vei...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000073133
更新日期:2003-11-01 00:00:00
abstract::Prenatal diagnosis of oral cystic lesions is rare but is reported more frequently. The diagnosis of sublingual cyst is important because of the potential for airway obstruction. A rare case of a foregut duplication cyst associated with unilateral sclerocorneal microphthalmia is reported. The differential diagnosis and...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000235883
更新日期:2009-01-01 00:00:00
abstract:OBJECTIVE:This study was undertaken to determine the clinical use of comparative genomic hybridization (CGH) for detection of fetal trisomy 21 from fetal ceIls (nucleated red blood cells; nRBCs) isolated from maternal peripheral venous blood. METHODS:Maternal peripheral venous blood samples were collected in sterile t...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000089062
更新日期:2006-01-01 00:00:00
abstract:INTRODUCTION:The only causal therapy is fetoscopic laser surgery (FLS). The aims of this study were to analyze the long-term outcome of monochorionic twins treated by FLS, including their school career, need for therapy and special aid equipment, and free-time activities, and compare their outcome to matched dichorioni...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000509400
更新日期:2020-01-01 00:00:00
abstract::In this study, we have investigated the maternal effects of distending the uterine cavity with Hartmann's solution in 2nd trimester equivalent pregnant sheep. In 7 pregnant ewes, double endoscopic cannulation of the amniotic cavity was performed under general anesthesia, and 1 liter of Hartmann's solution at 38 degree...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000264464
更新日期:1997-05-01 00:00:00
abstract:INTRODUCTION:Complete congenital high airway obstruction syndrome (CHAOS) usually leads to stillbirth or death within minutes of delivery. We describe the management and long-term follow-up of a baby with a prenatally diagnosed airway obstruction. CASE:Because of progressive hydrops fetalis, massive ascites and everte...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000063179
更新日期:2002-09-01 00:00:00
abstract:BACKGROUND:Hemimegalencephaly (HMC) is a disorder associated with enlarged and dysplastic hamartomatous overgrowth of all or part of the one cerebral hemisphere that can be isolated or associated with other syndromes. In the normal development of the brain it is important to bear in mind that there are two main process...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000322012
更新日期:2011-01-01 00:00:00
abstract::We present 2 cases of maternal mortality after transabdominal amniocentesis performed during the 2nd trimester of pregnancy. In both these cases, blood cultures revealed Escherichia coli. Broad-spectrum intravenous antibiotic treatment started immediately after admission to the hospital did not change the rapid progre...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000075150
更新日期:2004-03-01 00:00:00
abstract:OBJECTIVES:This report wants to focus on the risk of severe prematurity in patients with the hypermobility type of the Ehlers-Danlos syndrome (EDS), a heritable disorder of connective tissue. Although various obstetrical complications have been reported in patients with EDS, most reports specifically comment on the sev...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000020930
更新日期:1999-07-01 00:00:00
abstract::Congenital laryngeal cysts are rare and can cause upper airway obstruction if they are misdiagnosed. We describe a case of large vallecular cyst diagnosed at 33 weeks of gestation. The purpose of an early diagnosis is to establish a careful perinatal management. If the airway is compromised, a multidisciplinary medica...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000077969
更新日期:2004-07-01 00:00:00
abstract:OBJECTIVE:A diagnosis of myocardial dystrophic calcification, a rare cause of fetal cardiac masses, is presented. METHODS:The fetal echocardiography of a 26-year-old pregnant woman who was referred to the Pediatric Cardiology Department at 20 weeks' gestation revealed an echogenic mass in the post wall of the left ven...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000151341
更新日期:2008-01-01 00:00:00