Abstract:
:The aim of this study was to evaluate the detection of fetal structural abnormalities by the 11-14 week scan. 2853 pregnant women were submitted to a routine ultrasound scan between the 11th and 14th week and the fetal skull, brain, spine, abdominal wall, limbs, stomach and bladder were examined. Following the scans the patients were examined in the second or third trimester of pregnancy. An isolated increased nuchal translucency was not considered an abnormality. However, these patients had an early echocardiography assessment. Fetal structural abnormalities were classified as major or minor and of early or late onset. A total of 130 (4.6%) defects were identified and 29 (22.3%) of these were diagnosed at the 11-14 week scan, including nine cardiac defects associated with increased nuchal translucency. The antenatal ultrasound detection rate was 71.5%, and 31.2% were detected in the first-trimester assessment. 78.8% of the major defects were diagnosed by the prenatal scan and 37.8% by the 11-14 week scan. Fetal structural abnormalities at the 11-14 week scan were detected in approximately 22.3% of the cases, therefore, a second-trimester anomaly scan is important in routine antenatal care to increase the prenatal detection of fetal defects.
journal_name
Prenat Diagnjournal_title
Prenatal diagnosisauthors
Carvalho MH,Brizot ML,Lopes LM,Chiba CH,Miyadahira S,Zugaib Mdoi
10.1002/pd.200subject
Has Abstractpub_date
2002-01-01 00:00:00pages
1-4issue
1eissn
0197-3851issn
1097-0223pii
10.1002/pd.200journal_volume
22pub_type
杂志文章abstract::Reproductive carrier screening started in some countries in the 1970s for hemoglobinopathies and Tay-Sachs disease. Cystic fibrosis carrier screening became possible in the late 1980s and with technical advances, screening of an ever increasing number of genes has become possible. The goal of carrier screening is to i...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,评审
doi:10.1002/pd.5611
更新日期:2020-02-01 00:00:00
abstract::Apert syndrome (AS) is clinically characterized by typical facial features and symmetrical syndactyly of the digits. AS is inherited as an autosomal dominant trait. Recently, a fibroblast growth factor receptors 2 (FGFR2) mutation, either C934G or C937G, was identified in exon IIIa. Our report documents an affected mo...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:
更新日期:1998-06-01 00:00:00
abstract:OBJECTIVE:This study aimed to determine if screening for preeclampsia could be improved between 20 and 24 weeks of gestation by uterine artery Doppler (UAD), biomarkers and lipid-related markers. METHOD:Women at high risk of preeclampsia according to obstetric and medical characteristics and history were prospectively...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4198
更新日期:2013-11-01 00:00:00
abstract:OBJECTIVE:We theorized that a significant number of women would choose integrated screening (IS) over first trimester screening (FTS) and that demographic characteristics and baseline anxiety levels might predict which patients would choose each test. We also hypothesized that screening results might alter patients' fu...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.2158
更新日期:2008-12-01 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::Activity levels of total and placental alkaline phosphatase (AP) were determined in maternal serum and neutrophils of normal and Down syndrome pregnancies. The placental iso-enzyme (PAP) was identified by its relative stability to urea and heat. Significant increase in the activity of all iso-enzymes across gestationa...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:
更新日期:1999-03-01 00:00:00
abstract::FISH analysis of uncultured interphase amniotic fluid cells from a male fetus revealed two signals using an alpha-satellite X-chromosome DNA probe. One of the signals was much smaller than the other. It was subsequently shown that the normal sized signal was located on the X chromosome and the smaller signal was locat...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/(sici)1097-0223(199909)19:9<832::aid-pd653
更新日期:1999-09-01 00:00:00
abstract:OBJECTIVES:To compare liver volume between trisomy 21 and euploid fetuses at 11 to 13 weeks' gestation. METHODS:Fetal liver volume was measured by 3D ultrasound in fetuses at low risk of aneuploidies (n = 200) and another group at high risk, including 148 euploid and 37 with trisomy 21. The association of liver volume...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.2633
更新日期:2011-01-01 00:00:00
abstract::We have investigated the ability of high-resolution proton NMR spectroscopy to provide a biochemical constituent screening of human amniotic fluid (AF). Proton NMR spectra were obtained at 300 MHz on AF from patients undergoing amniocentesis in the mid-trimester. Only AF from normal pregnancies (normal fetal karyotype...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970130609
更新日期:1993-06-01 00:00:00
abstract:OBJECTIVES:To assess incidence and volume of fetomaternal hemorrhage (FMH) after chorionic villus sampling (CVS) by Kleihauer Betke test (KBT) and rise in maternal protein (MSAFP). METHODS:A prospective study was conducted on 61 cases requiring CVS. FMH due to CVS was assessed by KBT and MSAFP. RESULTS:Out of 61 case...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1632
更新日期:2007-02-01 00:00:00
abstract:OBJECTIVE:To determine the completion rate of ultrasound surveys for aneuploidy markers by maternal body mass index (BMI). METHODS:A retrospective review of ultrasounds on midtrimester singleton pregnancies was performed. Subjects were grouped as normal, overweight (BMI 25-29.9 kg/m(2)), and obese: class I (30-34.9 kg...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.2554
更新日期:2010-09-01 00:00:00
abstract::Fetal severe central nervous system ventriculomegaly is associated with poor neurologic outcomes, usually driven by a primary malformation, deformation, or disruption of brain parenchyma. In utero shunting of excess cerebrospinal fluid (CSF) in hopes of improving neurologic outcomes was attempted in the 1980s but was ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,评审
doi:10.1002/pd.5527
更新日期:2020-01-01 00:00:00
abstract::Amniocentesis was performed in view of a paternal balanced chromosomal rearrangement t(4;20)(p16;p12), inv(18)(p11q11). The pregnancy was complicated by severe oligohydramnios. The fetal karyotype was unbalanced: 46XX, der(4), t(4;20)(p16;p12), inv(18) (p11q11)pat., thus resulting in partial trisomy 20p and monosomy 4...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970050308
更新日期:1985-05-01 00:00:00
abstract::Tyrosinaemia type I is caused by a deficiency of fumarylacetoacetate hydrolase and mainly affects the liver. This disease is characterized by the presence of a high level of succinylacetone. This metabolite has been used for prenatal diagnosis from amniotic fluid samples. One case with a normal level of succinylaceton...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/(sici)1097-0223(199901)19:1<61::aid-pd455>
更新日期:1999-01-01 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:OBJECTIVE:The objective of this study is to combine multiplex ligation-dependent probe amplification (MLPA) and bisulfite sequencing to determine DNA methylation markers for noninvasive prenatal diagnosis of Down syndrome. METHODS:DNA methylation ratios (MR) of four fragments (CGI149, CGI045, HLCS-1, and HLCS-2) on ch...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4256
更新日期:2014-01-01 00:00:00
abstract:OBJECTIVE:To report on the occurrence of in utero acquired limb ischemia in two referral institutions managing monochorionic (MC) twins with and without twin-to-twin transfusion syndrome (TTTS) and estimate its prevalence. METHODS:All MC twin pregnancies assessed at two referral units between 2002 and 2007 were retros...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,多中心研究
doi:10.1002/pd.2000
更新日期:2008-09-01 00:00:00
abstract:OBJECTIVE:To identify the correlation between the renal vascularization index (VI), the flow index (FI) and the vascularization and flow index (VFI) and placental and fetal hemodynamics in fetuses with growth restriction. METHOD:Bidimensional ultrasound and three-dimensional power Doppler with the VOCAL technique were...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.5099
更新日期:2017-08-01 00:00:00
abstract::There is an increasing number of reports relating chorionic villus sampling (CVS) to transverse limb reduction defects or the oromandibular limb hypogenesis complex. In addition, a correlation has been established between the severity of the defect and the gestational age when CVS is performed. Several hypotheses have...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:
更新日期:1997-01-01 00:00:00
abstract::Prenatal diagnosis of Sandhoff disease (infantile onset) at 16 weeks gestation has been made by detection and analysis of N-acetylglucosaminyl-oligosaccharides in amniotic fluid using high performance liquid chromatography. The elution profile for the branched chain oligosaccharides was identical with that obtained wi...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970060602
更新日期:1986-11-01 00:00:00
abstract::We report the prenatal diagnosis of a fetus with a de novo Robertsonian translocation: 45,XY,der(15;15)(q10;q10). Although Robertsonian translocations are common chromosomal rearrangements, those involving homologous chromosomes are infrequent. Since chromosome 15 is imprinted, uniparental disomy (UPD) is a concern wh...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.133
更新日期:2001-08-01 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::Exomphalos affects approximately 3 in 10,000 births and can arise from a number of developmental insults. The clinical outcome is dependent upon the associated structural and chromosomal anomalies and the gestation at delivery. Accurate antenatal ultrasound diagnosis and karyotyping are important and allow informed pr...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,评审
doi:10.1002/(sici)1097-0223(199812)18:12<1283::aid-pd4
更新日期:1998-12-01 00:00:00
abstract:OBJECTIVES:To explore the efficacy of contingent triple-screening for Down syndrome (DS), that is, performing triple-screening in pregnant women with DS risks between 1/270 and 1/1000 at routine double-screening, in a Mainland Chinese population. METHODS:Maternal serum concentrations of alpha fetoprotein (AFP), free-b...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.2412
更新日期:2010-01-01 00:00:00
abstract:OBJECTIVE:MicroRNAs (miRNAs) are used as biomarkers in cardiovascular disease and cancer. miRNAs are involved in placental development but have not previously been investigated in twin-twin transfusion syndrome (TTTS). Our aim is to explore the miRNA profile of TTTS pregnancies. METHOD:Initial miRNA profiling was perf...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.5475
更新日期:2019-07-01 00:00:00
abstract::We report the first molecular prenatal diagnosis of 3-hydroxy-3-methylglutaryl CoA lyase (HL) deficiency. The proband had a classic but severe presentation with hypoketotic hypoglycaemia and acidosis, secondary mental retardation, and epilepsy, and HL deficiency was documented in cultured fibroblasts. We found him to ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970150807
更新日期:1995-08-01 00:00:00
abstract:OBJECTIVE:To assess the value of biomagnetic recordings of the umbilical artery over Doppler ultrasound screening in order to predict complications of impaired uteroplacental blood flow in fetuses with intrauterine growth restriction (IUGR). METHODS:Our study population included 11 IUGR preeclamptic (34-37-weeks gesta...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.585
更新日期:2003-04-01 00:00:00
abstract:OBJECTIVE:Our objective is to evaluate for potential associations between chorionic villus sampling (CVS) and hypertensive disorders of pregnancy. METHODS:Using our genetic database, we compared the rates of hypertensive disorders between women who underwent CVS at 10-13 and 6/7 weeks with those seen for other indicat...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.2410
更新日期:2010-01-01 00:00:00
abstract:OBJECTIVE:This study aimed to determine the additional diagnostic information provided by prenatal (fetal) magnetic resonance imaging (pMRI) following tertiary ultrasound (US) for fetal cranial abnormalities in complicated monochorionic gestations. METHODS:Women with complicated monochorionic gestations complicated by...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.5059
更新日期:2017-06-01 00:00:00
abstract::Amniocentesis performed after 24 weeks' gestation following ultrasonographic diagnosis of isolated unilateral hydronephrosis showed a de novo extra structurally abnormal chromosome in all cells examined. A combination of conventional and molecular cytogenetic techniques characterized the supernumerary marker as a dice...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:
更新日期:2000-02-01 00:00:00