Abstract:
OBJECTIVE:To validate an updated version (Version 2) of a single-nucleotide polymorphism (SNP)-based noninvasive prenatal test (NIPT) and to determine the likelihood of success when testing for fetal aneuploidies following a redraw. METHODS:Version 2 was analytically validated using 587 plasma samples with known genotype (184 trisomy 21, 37 trisomy 18, 15 trisomy 13, 9 monosomy X, 4 triploidy and 338 euploid). Sensitivity, specificity and no-call rate were calculated, and a fetal-fraction adjustment was applied to enable projection of these values in a commercial distribution. Likelihood of success of a second blood draw was computed based on fetal fraction and maternal weight from the first draw. RESULTS:Validation of this methodology yielded high sensitivities (≥99.4%) and specificities (100%) for all conditions tested with an observed no-call rate of 2.3%. The no-call threshold for sample calling was reduced to 2.8% fetal fraction. The redraw success rate was driven by higher initial fetal fractions and lower maternal weights, with the fetal fraction being the more significant variable. CONCLUSIONS:The enhanced version of this SNP-based NIPT method showed a reduced no-call rate and a reduced fetal-fraction threshold for sample calling in comparison to the earlier version, while maintaining high sensitivity and specificity.
journal_name
Fetal Diagn Therjournal_title
Fetal diagnosis and therapyauthors
Ryan A,Hunkapiller N,Banjevic M,Vankayalapati N,Fong N,Jinnett KN,Demko Z,Zimmermann B,Sigurjonsson S,Gross SJ,Hill Mdoi
10.1159/000442931subject
Has Abstractpub_date
2016-01-01 00:00:00pages
219-223issue
3eissn
1015-3837issn
1421-9964pii
000442931journal_volume
40pub_type
杂志文章abstract::Spontaneous preterm birth has enormous consequences for newborns, children, and families. Intra-amniotic inflammation (IAI) is the leading cause of spontaneous preterm delivery, mainly at earlier gestational ages. Amniocentesis is the only method used to identify IAI in clinical practice. Although it is an invasive pr...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章,评审
doi:10.1159/000480232
更新日期:2018-01-01 00:00:00
abstract::A case of sirenomelia in a 27-year-old woman detected at 11 weeks 5 days of gestation is presented. It was suspected by two-dimensional sonography and color Doppler imaging. Three-dimensional ultrasound confirmed the final diagnosis. With detailed evaluation of the acquired volumes, valuable information was obtained a...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000236359
更新日期:2009-01-01 00:00:00
abstract:OBJECTIVES:The incidence of Down syndrome increases with maternal age and a rapid and accurate method for prenatal diagnosis is a necessity. This study was devised to evaluate and compare the methods for detecting trisomy 21 by polymerase chain reaction (PCR)-associated analysis of small tandem repeats (STR) of D21S11 ...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000020870
更新日期:1998-11-01 00:00:00
abstract:OBJECTIVE:To describe procedure-related complications and perinatal survival after intrauterine transfusion (IUT) before 20 weeks of gestation in fetuses with severe anemia due to human parvovirus B19 infection. MATERIALS AND METHODS:A retrospective study was conducted of all fetuses requiring IUT before 20 weeks of g...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章,多中心研究
doi:10.1159/000477208
更新日期:2018-01-01 00:00:00
abstract:INTRODUCTION:Fetal surgery for myelomeningocele (MMC) results in better outcomes compared to postnatal treatment. However, risks are present. We describe our experience with intraoperative fetal echocardiography during repair of MMC and report on the management of serious cardiovascular events. MATERIAL AND METHODS:Th...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000364863
更新日期:2015-01-01 00:00:00
abstract::We report the prenatal ultrasound and magnetic resonance imaging finding of periventricular, large subependymal pseudocysts (SEPCs) in a patient who was later diagnosed as having mitochondrial depletion syndrome (MDS). To our knowledge, this is the first report of fetal SEPCs in a patient with MDS. These findings may ...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000209385
更新日期:2009-01-01 00:00:00
abstract::Fetal magnetocardiograms (FMCGs) were recorded in a case of fetal complete heart block (CHB) from the 30th to the 37th week of gestation using the multichannel SQUID system (Hitachi, Japan). M-mode ultrasonography and direct fetal electrocardiography using needle electrodes revealed fetal CHB. We identified independen...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000053878
更新日期:2001-01-01 00:00:00
abstract::The ability to diagnose fetal cardiovascular malformations prenatally has been established during the past 14 years. This has naturally led to an increased interest in the possibility of providing timely therapy in the neonatal period and has raised the prospects for prenatal intervention. Before medical, catheter, an...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章,评审
doi:10.1159/000263663
更新日期:1992-01-01 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: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:OBJECTIVE:To evaluate the efficiency of percutaneous intratumor laser ablation for fetal solid sacrococcygeal teratoma (SCT). SUBJECTS AND METHODS:We carried out percutaneous ultrasound-guided intratumor laser ablation through a 17-gauge needle using an output of 40 W in 7 fetuses with large solid SCT and reviewed the...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章,评审
doi:10.1159/000500775
更新日期:2020-01-01 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: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:OBJECTIVE:Our purpose was to evaluate the relationship between meconium-stained amniotic fluid (MEC-AF) and amniotic fluid volume (AFV) and their impact on the risk of cesarean delivery for fetal indications in term pregnancies. METHODS:1,655 live-born singleton gestations delivering at > or = 37 weeks within 7 days o...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000048013
更新日期:2002-03-01 00:00:00
abstract::Described as a myeloproliferative disorder mainly affecting elderly women, recent reports now confirm the occurrence of essential thrombocythemia at younger ages, which questions treatment during pregnancy. We report a further case of uneventful full term pregnancy with the use of interferon-alpha for maternal essenti...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章,评审
doi:10.1159/000207555
更新日期:2009-01-01 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: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:OBJECTIVES:The aim of the study was to investigate the levels of anxiety and depression, as well as liability to depression, of women undergoing chorionic villus sampling (CVS) due to the risk of giving birth to a child suffering from hemoglobinopathy, or trisomy. METHODS:The study population consisted of 309 women wh...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000075140
更新日期:2004-03-01 00:00:00
abstract:OBJECTIVE:This systematic review evaluated the existence of risk factors for the fetal manifestation of long QT syndrome (LQTS). METHODS:Prenatal cardiac findings suggestive of fetal LQTS were studied using 30 English literature reports extracted from the Pubmed database (1979 to December 2011) using the search terms ...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章,评审
doi:10.1159/000339150
更新日期:2013-01-01 00:00:00
abstract:BACKGROUND:Lymphangiomas are commonly diagnosed by prenatal ultrasound. These anomalies are most often cervical, but occasionally present in the axilla, thorax and abdomen. We present a case in which intrauterine drainage was followed by an uneventful vaginal delivery. CASE:A 30-year-old G4P3 female was referred to ou...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000264305
更新日期:1996-05-01 00:00:00
abstract:OBJECTIVES:To assess the messenger ribonucleic acid expression in placental tissue of growth factors, cytokines, angiogenic and anti-angiogenic factors in one case of recurrent multiple chorioangiomas. METHODS:Complementary deoxyribonucleic acid array analysis was performed on the affected placentae and on normal plac...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000098708
更新日期:2007-01-01 00:00:00
abstract::We report a case of nonimmune hydrops fetalis detected at 32 weeks of gestation. Fetal heart rate was 300 beats per minute. Ultrasound and fetal Doppler echocardiography showed it to be due to supraventricular tachycardia (SVT). Following failed maternal therapy with digoxin alone, amiodarone with digoxin was used. Co...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章,评审
doi:10.1159/000089052
更新日期:2006-01-01 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::Since 1984 percutaneous mitral balloon commissurotomy (PMC) has replaced closed mitral commissurotomy in most of its indications. However the application of this technique to pregnant women had raised considerable concern essentially because of the risk of fetal distress and irradiation. Of 1,017 PMC performed between...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000263936
更新日期:1994-07-01 00:00:00
abstract::Septo-optic dysplasia, also known as de Morsier syndrome, is a rare congenital entity almost always characterized by hypoplasia/dysplasia of the optical nerve, chiasma or optic radiations and the complete or partial absence of the septum pellucidum. It may also be accompanied by other malformations, including multiple...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000207450
更新日期:2009-01-01 00:00:00
abstract::Fetal responses in 7 cases of mid-trimester amniocentesis, complicated by inadvertent contact between the amniocentesis needle and fetal parts, were analyzed by retrospective videotape review. The incidence of inadvertent needle contact with the fetus was 0.4% (7 of 1,458). Responses included brisk withdrawal of the '...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000264210
更新日期:1995-03-01 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::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::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::Since its inception in 1995, the mission of the Center for Fetal Diagnosis and Treatment at the Children's Hospital of Philadelphia (CHOP) has been to provide comprehensive, multidisciplinary expertise in all facets of prenatal diagnosis, reproductive genetics, and prenatal, perinatal, and postnatal treatment for abno...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章,评审
doi:10.1159/000068075
更新日期:2003-03-01 00:00:00