Abstract:
OBJECTIVE:To evaluate the clinical and economic impact of adopting noninvasive prenatal testing (NIPT) using circulating cell-free DNA as a first-line screening method for trisomy 21, 18, and 13 in the general pregnancy population. METHODS:A decision-analytical model was developed to assess the impact of adopting NIPT as a primary screening test compared to conventional screening methods. The model takes the Belgium perspective and includes only the direct medical cost of screening, diagnosis, and procedure-related complications. NIPT costs are EUR 260. Clinical outcomes and the cost per trisomy detected were assessed. Sensitivity analysis measured the impact of NIPT false-positive rate (FPR) on modelled results. RESULTS:The cost per trisomy detected was EUR 63,016 for conventional screening versus EUR 66,633 for NIPT, with a difference of EUR 3,617. NIPT reduced unnecessary invasive tests by 94.8%, decreased procedure-related miscarriages by 90.8%, and increased trisomies detected by 29.1%. Increasing the FPR of NIPT (from < 0.01 to 1.0%) increased the average number of invasive procedures required to diagnose a trisomy from 2.2 to 4.5, respectively. CONCLUSION:NIPT first-line screening at a reasonable cost is cost-effective and provides better clinical outcomes. However, modelled results are dependent on the adoption of an NIPT with a low FPR.
journal_name
Fetal Diagn Therjournal_title
Fetal diagnosis and therapyauthors
Kostenko E,Chantraine F,Vandeweyer K,Schmid M,Lefevre A,Hertz D,Zelle L,Bartha JL,Di Renzo GCdoi
10.1159/000491750subject
Has Abstractpub_date
2019-01-01 00:00:00pages
413-423issue
6eissn
1015-3837issn
1421-9964pii
000491750journal_volume
45pub_type
杂志文章abstract:OBJECTIVE:To demonstrate the coincidence of fetal magnetocardiography (FMCG) and fetal direct electrocardiography (FDECG) in a case of fetal atrial flutter (AF). METHODS:FMCG and FDECG using a fetal scalp electrode were recorded in the case of fetal AF at 41 weeks' gestation. RESULTS:FMCG revealed fetal AF with 2:1 a...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000065379
更新日期:2002-11-01 00:00:00
abstract:OBJECTIVES:To determine if maternal serum levels of 25(OH)D at 11-13 weeks' gestation are altered in pregnancies that subsequently deliver small for gestational age (SGA) neonates and whether the levels are related to placental function reflected in serum concentration of pregnancy-associated plasma protein-A (PAPP-A)....
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000333810
更新日期:2012-01-01 00:00:00
abstract::Acute hydramnios is a rare complication of pregnancy, usually of idiopathic etiology and associated with a very poor perinatal prognosis. In this single case report, acute hydramnios at 21 weeks' gestation, associated with fetal CMV infection, was treated by a single large volume reduction amniocentesis combined with ...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000264339
更新日期:1996-09-01 00:00:00
abstract:OBJECTIVES:The aims of this study were to gain some insight with regard to the safety of the coelocentesis procedure and, to determine pH, pCO2, and base excess status of the extracoelomic fluid 40 days after fertilization. METHODS:Twenty-eight timed-mated baboons from the breeding colony of the Biological Resource La...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000020850
更新日期:1998-07-01 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:AIM:We present and discuss delivery (maternal and fetal) outcome of macerated stillbirths in the third trimester. MATERIAL AND METHODS:In this retrospective observational study, the course of labor was analyzed in 10 stillborn fetuses with a varying grade of maceration during the third trimester. Medical documentation...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000132405
更新日期:2008-01-01 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::It has long been appreciated that the measurement of biochemical parameters for prenatal screening for neural tube defects, and later aneuploidy, is not as simple as measuring hemoglobin or hematocrit. Early in the game, it was recognized that there are gestational age curves, and that since alpha-fetoprotein (AFP), f...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章,评审
doi:10.1159/000020887
更新日期:1999-01-01 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:To evaluate the perinatal and long-term neurodevelopmental outcome in a cohort of children with intracranial haemorrhage (ICH) due to fetal and neonatal alloimmune thrombocytopenia (FNAIT) and to clearly outline the burden of this disease. SUBJECTS AND METHODS:We performed an observational cohort study and ...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000488280
更新日期:2019-01-01 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:BACKGROUND:Fetal growth may vary significantly in different congenital heart defects (CHDs). OBJECTIVES:To investigate prenatal growth of CHD fetuses and its correlation with classifications based upon expected oxygen delivery to the fetal brain or structural findings. METHODS:Seventy-nine euploid fetuses with isolat...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000493938
更新日期:2020-01-01 00:00:00
abstract::Fetal growth restriction with oligohydramnios occurring in the preterm gestation is associated with significant fetal morbidity and mortality. We investigated the possibility that transabdominal amnioinfusion might relieve acute cord compression and allow prolongation of gestation long enough to administer corticoster...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000264266
更新日期:1995-11-01 00:00:00
abstract:OBJECTIVE:To develop a model for prediction of late preeclampsia (PE; which develops at or after 34 weeks' gestation) based on maternal history and characteristics, mean arterial pressure (MAP), and circulating levels of mRNA for the placenta-specific 1 (PLAC1) gene in maternal plasma at 14-18 weeks' gestation. METHOD...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000360854
更新日期:2014-01-01 00:00:00
abstract:INTRODUCTION:The purpose of this study was to obtain precise knowledge of fetal biometric measurements, in particular crown-rump length (CRL). Our results have been carefully compared to equations found in the literature. MATERIALS AND METHODS:Single-operator measurements of 2,123 spontaneous pregnancies from a genera...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000339272
更新日期:2012-01-01 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: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: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::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:This study describes the association between the complexity of congenital cardiac and extracardiac malformations, and the parental decision of pregnancy continuation or termination. METHODS:Congenital heart defects (CHD) was diagnosed by ultrasound in 251 fetuses before the 24th week (23 + 6 weeks) of gestat...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000346564
更新日期:2013-01-01 00:00:00
abstract:OBJECTIVE:We reviewed women with previable spontaneous premature rupture of membranes (sPPROM) in whom an amniopatch was performed and compared their pregnancy outcomes with a conservative management group. METHODS:Amniopatch, an amnioinfusion of autologous platelet concentrate followed by cryoprecipitate, was perform...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000342418
更新日期:2013-01-01 00:00:00
abstract::The aortic isthmus (AoI) is a unique fetal watershed with a waveform reflecting its complex haemodynamic physiology. The systolic component represents left and right ventricular systolic ejection, and the diastolic component represents comparative downstream vascular impedance between the brachiocephalic and subdiaphr...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章,评审
doi:10.1159/000446942
更新日期:2016-01-01 00:00:00
abstract::The present study provides detailed neonatal and congenital malformation follow-up from 695 women enrolled in a prospective randomized multicenter study comparing the safety and accuracy of early (11-12 weeks of gestation) and midtrimester amniocentesis (15-16 weeks of gestation). No differences were found for total p...
journal_title:Fetal diagnosis and therapy
pub_type: 临床试验,杂志文章,多中心研究,随机对照试验
doi:10.1159/000264440
更新日期:1997-03-01 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: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::In order to elucidate the effects of corticosteroids on fetal hearts during midtrimester, pregnant rats were injected with a daily dose of betamethasone (1 mg/kg) from the 12th day through the 17th day of pregnancy. The fetal cardiovascular and pulmonary systems were studied on the 21st day of pregnancy (term). The tr...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000263754
更新日期:1993-03-01 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:OBJECTIVE:To evaluate the diagnostic relevance to neonatal infections of the soluble intercellular adhesion molecule 1 (sICAM-1) cord serum level. METHODS:The case-control study included 66 term newborn infants with and without risk factors for neonatal infections. Cord blood serum determinations of white blood cell c...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000048032
更新日期:2002-05-01 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::The authors describe the first case of an isolated bilateral radial ray reduction occurring in a fetus exposed in utero to valproic acid; the diagnosis was made by ultrasound during the second trimester. This case of an isolated radial ray reduction associated with valproic acid use in pregnancy is a reminder for sono...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000263924
更新日期:1994-05-01 00:00:00