Abstract:
OBJECTIVES:Prenatal diagnosis of critical congenital heart disease, which requires surgical or catheter intervention in the first 30 days of life, allows for delivery at a specialized center and can reduce preoperative morbidity and mortality. We sought to identify the risk factors for a missed prenatal diagnosis of critical congenital heart disease. METHODS:Patients presenting to the Children's Hospital of Wisconsin with critical congenital heart disease from 2007 to 2013 were included. Those with a prenatal diagnosis were compared with those with a postnatal diagnosis. RESULTS:The cohort included 535 patients with prenatal diagnosis made in 326 (61%). The prenatal diagnostic rate improved from 44% in 2007 to 69% in 2013. Independent factors associated with a postnatal diagnosis were a lesion that required a view other than a four chamber view to make the diagnosis (p < 0.0001), absence of another organ system anomaly (p < 0.0001), and living in a higher poverty (p = 0.02) or lower population density communities (p = 0.002). CONCLUSIONS:While the prenatal diagnostic rate for critical congenital heart disease is improving, those living in impoverished or rural communities are at highest risk of not having a diagnosis made prenatally. Interventions to improve prenatal detection of congenital heart disease should target these vulnerable areas.
journal_name
Prenat Diagnjournal_title
Prenatal diagnosisauthors
Hill GD,Block JR,Tanem JB,Frommelt MAdoi
10.1002/pd.4622subject
Has Abstractpub_date
2015-09-01 00:00:00pages
859-63issue
9eissn
0197-3851issn
1097-0223journal_volume
35pub_type
杂志文章abstract:OBJECTIVE:To describe prenatal magnetic resonance imaging (MRI) findings of dural sinus malformation (DSM), a very rare, congenital form of dural arteriovenous shunt (DAVS), typically affecting newborns. METHODS:Ultrasound (US) and MRI were performed at 34 weeks' gestation, and the findings of these examinations were ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1347
更新日期:2006-01-01 00:00:00
abstract::A child was tentatively diagnosed as having cystic fibrosis, based on neonatal presentation with severe gastrointestinal complications; the diagnosis was not confirmed biochemically and no tissues were available for DNA analysis. The mother presented in her subsequent pregnancy, and microvillar enzyme analysis of cell...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970100911
更新日期:1990-09-01 00:00:00
abstract:OBJECTIVES:To present the prenatal diagnosis of a fetus of mos46,X,del(Y)(q11.2)/45,X by cytogenetic and molecular analysis. CASE AND METHODS:A 35-year-old pregnant woman came to our hospital for amniocentesis, and fetal chromosomal aberrations with mos46,X, + mar/45,X were found. Fluorescence in situ hybridization re...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.817
更新日期:2004-02-01 00:00:00
abstract:OBJECTIVE:The aim of this study was to compare the levels of maternal serum placental growth factor (PlGF) and soluble fms-like tyrosine kinase-1 (sFlt-1) between pregnancies with fetal hemoglobin (Hb) Bart's disease and unaffected pregnancies. METHODS:Ninety-one pregnancies at risk for fetal Hb Bart's disease schedul...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4246
更新日期:2013-12-01 00:00:00
abstract::Osteogenesis imperfecta (OI) Type II was diagnosed accurately in an at-risk fetus at 16 weeks gestation by real-time sonography. The most important findings were shortening, deformity and possibly fracture in the long bones particularly the femurs. Ultrasonic visualization of these signs in a fetus at risk will provid...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970040314
更新日期:1984-05-01 00:00:00
abstract::Maternal serum CA 125 levels were determined at 9-11 menstrual weeks for 26 cases of trisomy 13 (n = 4), trisomy 18 (n = 7), trisomy 21 (n = 15), and appropriate controls. There were no statistically significant differences between groups. ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970120911
更新日期:1992-09-01 00:00:00
abstract::A comparative study of women who underwent prenatal cystic fibrosis (CF) carrier screening by either the 'two-step method' or the 'couple method' was carried out 2-4 years after testing. Recall of the screening test and test result, understanding of the implications of the test result, and reproductive intentions and ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/(sici)1097-0223(199709)17:9<853::aid-pd151
更新日期:1997-09-01 00:00:00
abstract::We report a case of severe intrauterine growth retardation (IUGR) and hypospadias in association with trisomy 22 diagnosed following chorionic villus sampling (CVS). Subsequent analysis of amniotic fluid cultures showed a normal male karyotype, 46,XY. As a previous case had been reported with similar abnormalities, in...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.260
更新日期:2002-02-01 00:00:00
abstract:OBJECTIVE:The aim of this study was to determine whether fetal nucleated red blood cells (NRBCs) could be distinguished from maternal cells in peripheral blood using an erythroblast scoring system based on the unique morphological and hemoglobin staining characteristics of this cell type. Presumptive fetal NRBCs were f...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1199
更新日期:2005-07-01 00:00:00
abstract:OBJECTIVE:The study aims to describe our two-dimensional (2D) ultrasound approach to visualize the fetal secondary palate and plot its growth curve and to describe and demonstrate its clinical implementation. METHODS:This is a two parts retrospective study. First, we measured the antero-posterior length of the bony se...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.5385
更新日期:2018-12-01 00:00:00
abstract::In 3 fetuses affected by congenital chloride diarrhoea there were characteristic prenatal ultrasonic findings. In all cases the fetal abdominal cavity was filled with distended loops of fetal intestine, the fetal stomach was of normal size and polyhydramnios was present. The prenatal ultrasonic findings in this metabo...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970040611
更新日期:1984-11-01 00:00:00
abstract:OBJECTIVE:The aim of this study was to quantify glycosaminoglycans (GAGs) in amniotic fluid (AF) from an MPS VII fetus compared with age-matched fetuses obtained from normal pregnancies. METHOD:Disaccharides were measured by liquid chromatography tandem mass spectrometry, compared to age-matched controls. Enzyme assay...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.5028
更新日期:2017-05-01 00:00:00
abstract::Trophoblast cells can be detected in maternal blood during normal human pregnancy and DNA from these cells may be used for non-invasive prenatal diagnosis of inherited diseases. The possibility of enriching trophoblast cells from maternal blood samples using a monoclonal antibody (LK26) against a folate-binding protei...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/(sici)1097-0223(199903)19:3<271::aid-pd517
更新日期:1999-03-01 00:00:00
abstract::Diagnosis of twin reversed arterial perfusion (TRAP) syndrome is a rare fetal anomaly that can be misdiagnosed on prenatal ultrasound. We confirmed the use of colour-flow Doppler for prenatal diagnosis of TRAP syndrome and used serial fetal echocardiography for non-invasive evaluation of the fetus. A patient with twin...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/1097-0223(200008)20:8<615::aid-pd855>3.0.c
更新日期:2000-08-01 00:00:00
abstract::We have evaluated the effect of maternal intravenous immunoglobulin G (ivIgG) treatment on platelet counts in fetal alloimmune thrombocytopenia. Seven patients were studied. All of them were multiparous women who had been immunized against the HPA-1a antigen during previous pregnancies and had given birth to at least ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/(SICI)1097-0223(199606)16:6<495::AID-PD899
更新日期:1996-06-01 00:00:00
abstract:BACKGROUND:The use of preimplantation genetic diagnosis (PGD) to select genetically 'normal' human embryos and to transfer them to the uterus of a woman has generated considerable controversy. Debate has occurred over the implications of PGD, sex selection, safety of embryonic manipulation and eugenics. This study eval...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.498
更新日期:2002-12-01 00:00:00
abstract:OBJECTIVE:To evaluate the association between echogenic appearing lungs on ultrasonographic examination of the fetus and aneuploidy. METHODS:Cases in which echogenic lungs were prospectively identified on ultrasonographic examination were collected. Other abnormal ultrasonographic findings were documented, as were pat...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1112
更新日期:2005-03-01 00:00:00
abstract:OBJECTIVE:N-Acetyltransferase 2 (NAT2) is a phase II xenobiotic-metabolizing enzyme participating in the detoxification of toxic arylamines and aromatic amines. The present study was designed to investigate whether maternal NAT2 genetic polymorphisms are associated with fetal susceptibility to congenital heart diseases...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.5516
更新日期:2019-10-01 00:00:00
abstract:OBJECTIVE:The purpose of this study was to investigate the clinical value of velocity vector imaging (VVI) in the assessment of normal fetal regional myocardial performance and to establish a normative data set for normal Chinese fetuses. METHODS:One hundred and fifty-one healthy Chinese fetuses were divided into five...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.2386
更新日期:2009-12-01 00:00:00
abstract::Most of cystic fibrosis (CF) pre-implantation genetic diagnosis (PGD) cases described to date are limited to the detection of DeltaF508. Beside this predominant mutation, over 1000 mutations have been identified, rendering the development of a mutation-based PGD protocol impracticable. This is the reason why we, as we...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.924
更新日期:2004-07-01 00:00:00
abstract::Nuchal translucency (NT) measurement between 11 and 14 weeks' gestation is an undisputed marker for aneuploidies. When conventional karyotyping is normal, enlarged NT is a strong marker for adverse pregnancy outcome, associated with miscarriage, intrauterine death, congenital heart defects, and numerous other structur...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,评审
doi:10.1002/pd.2396
更新日期:2010-02-01 00:00:00
abstract::Right pulmonary agenesis is a rare congenital malformation which results in secondary dextrocardia in situs solitus. Ipsilateral microtia in this context composes a laterality syndrome. The prenatal sonographic findings of this abnormality have not been previously reported. We describe the association of dextrocardia ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/1097-0223(200102)21:2<125::aid-pd999>3.0.c
更新日期:2001-02-01 00:00:00
abstract:OBJECTIVES:Our objective is to report long-term outcome after fetal cystoscopy for lower urinary tract obstruction (LUTO), as well as to investigate the accuracy of fetal cystoscopy in diagnosing the cause of bladder outlet obstruction. METHODS:This is a retrospective cohort study of all fetuses who underwent cystosco...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4771
更新日期:2016-04-01 00:00:00
abstract:OBJECTIVES:To display and compare the different published formulae that specify the association between maternal age and the risk of a Down syndrome live birth. METHODS:Papers published since 1987 on the prevalence of Down syndrome live births in relation to maternal age were located using MEDLINE and the references g...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.568
更新日期:2003-03-01 00:00:00
abstract:OBJECTIVE:To report a rare case of umbilical cord hemangioma and to discuss its association with vascular birthmarks. METHODS:A case of umbilical cord hemangioma diagnosed by ultrasound at 28 weeks of gestation is reported. After labor induction at 38 weeks of gestation, a male infant was born. Examination of the newb...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,评审
doi:10.1002/pd.1109
更新日期:2005-04-01 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::Prenatal diagnosis of Duchenne and Becker muscular dystrophy is performed as a routine procedure in many laboratories around the world, using numerous molecular genetic techniques. Rather than discussing methods that are commonly in use, this review concentrates on some of the methods that are less widely available. T...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,评审
doi:10.1002/(SICI)1097-0223(199612)16:13<1187::AID-PD9
更新日期:1996-12-01 00:00:00
abstract::Toriello-Carey syndrome is a rare malformative complex, described for the first time in 1988, characterized by agenesis of the corpus callosum, facial anomalies, cardiac defects and hypotonia. Relatively few neonatal cases have been reported. We describe here the first prenatal ultrasound diagnosis of the syndrome bas...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.488
更新日期:2002-12-01 00:00:00
abstract::This paper examines the association between fetal choroid plexus cysts (CPCs) and trisomy 18 and proposes a method by which risks can be derived taking into account both sonographic findings and maternal age. Data from our centre on the sonographic findings of 58 fetuses with trisomy 18 and 387 fetuses with CPCs as we...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970141205
更新日期:1994-12-01 00:00:00
abstract:OBJECTIVE:To determine the value of a first trimester fetal ultrasound examination in cases of an increased nuchal translucency (NT). METHOD:A detailed fetal ultrasound examination was performed within 4 days of a detection of a first trimester increased NT. RESULTS:As many as 23 fetuses were evaluated. Severe anomal...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.2119
更新日期:2008-11-01 00:00:00