Abstract:
:A case of aortic atresia with insufficiency of mitral valve diagnosed prenatally at 33 weeks of gestation is presented. An accurate diagnosis of this fetal cardiovascular malformation was possible by application of Doppler colour flow mapping, which demonstrated (a) the absence of forward flow in the hypoplastic ascending aorta, (b) reverse flow of blood from the ductus arteriosus into the severely hypoplastic ascending aorta in the late systole, (c) pansystolic mitral valve regurgitation, and (d) absent flow across the foramen ovale as a result of premature closure of the foramen ovale.
journal_name
Prenat Diagnjournal_title
Prenatal diagnosisauthors
Gembruch U,Chatterjee M,Bald R,Eldering G,Göcke H,Urban AE,Hansmann Mdoi
10.1002/pd.1970100402subject
Has Abstractpub_date
1990-04-01 00:00:00pages
211-7issue
4eissn
0197-3851issn
1097-0223journal_volume
10pub_type
杂志文章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:OBJECTIVES:To evaluate the screening accuracy for Down syndrome of nuchal translucency (NT) measurement at different crown-rump length (CRL) subgroups along the 10- to 14-week period. METHODS:NT was classified 'enlarged' if greater than or equal to 1.5 and 2.0 multiples of the regressed median. Accuracies for Down syn...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1173
更新日期:2005-05-01 00:00:00
abstract:OBJECTIVE:Audit the crown-rump length (CRL) measurements taken at 11 to 13 weeks scan, using operator-specific median multiples of the median (MoM) for pregnancy-associated plasma protein-A (PAPP-A) and free β-human chorionic gonadotropin (β-hCG) plots, to identify deviations potentially related to a systematic CRL bia...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4996
更新日期:2017-03-01 00:00:00
abstract:OBJECTIVES:Hysterotomy scar disruption, ranging from myometrial thinning to complete dehiscence, is a well-established complication of open-hysterotomy fetal myelomeningocele (MMC) repair. This study sought to (a) determine the feasibility of postoperative magnetic resonance imaging (MRI) in detecting signs of hysterot...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.5565
更新日期:2020-01-01 00:00:00
abstract::Single umbilical artery is among the most common funicular vascular anomalies. In contrast, umbilical artery stenosis is rare, and has only been reported in three-vessel cords. We describe a case of single umbilical artery stenosis in a fetus with no associated malformations. Intrauterine fetal death occurred at 28 we...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.316
更新日期:2002-03-01 00:00:00
abstract:OBJECTIVES:We present a case of early prenatal diagnosis of recurrent 46,XY partial gonadal dysgenesis, by combining early genetic and sonographic evaluations. METHODS:The conceptus of a mother with a first child affected by 46,XY gonadal dysgenesis was sonographically evaluated at 21- and 23-mm BPD (12(+2) and 12(+6)...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.673
更新日期:2003-09-01 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:OBJECTIVES:To present the prenatal diagnosis of mosaic distal 5p deletion and a review of the literature. CLINICAL SUBJECT AND METHODS:A 37-year-old woman, gravida 2, para 1, underwent genetic amniocentesis at 17 weeks' gestation because of advanced maternal age. Cytogenetic analysis of the cultured amniocytes reveale...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,评审
doi:10.1002/pd.794
更新日期:2004-01-01 00:00:00
abstract:OBJECTIVES:To present prenatally detected mosaic tetrasomy for distal chromosome 15q and a review of the literature. CLINICAL SUBJECT AND METHODS:Amniocentesis was performed at 17 weeks' gestation because of advanced maternal age. Cytogenetic analysis revealed mosaicism for an analphoid supernumerary marker chromosome...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,评审
doi:10.1002/pd.977
更新日期:2004-10-01 00:00:00
abstract::The relatively high activity of arylsulphatase C (ASC) in the placenta is a potential risk for the misdiagnosis of arylsulphatase A (ASA) or arylsulphatase B (ASB) deficiency in chorionic villus sampling when assayed by synthetic substrates. A clear distinction between these enzymes can be achieved in either the direc...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970080708
更新日期:1988-09-01 00:00:00
abstract::The purpose of our study was to assess the influence of intra-uterine insemination (IUI) on the results of maternal serum Down syndrome screening. 43 women with IUI pregnancies and 4507 healthy women who conceived were studied. Ovulation in IUI pregnancies was induced by clomiphene and/or human menopausal gonadotrophi...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/(sici)1097-0223(199911)19:11<1012::aid-pd6
更新日期:1999-11-01 00:00:00
abstract:OBJECTIVE:To compare the referral diagnosis based on prenatal ultrasound to diagnoses made following combined ultrasound (US) and magnetic resonance imaging (MRI) evaluation at the Texas Children's Fetal Center (TCFC) and postnatal diagnosis. METHODS:We performed a retrospective review of patients referred to the TCFC...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.2481
更新日期:2010-05-01 00:00:00
abstract:OBJECTIVES:To replace G-banded chromosome analysis for miscarriage products with a combined molecular approach: QF-PCR and MLPA, to increase efficiency, reduce costs, and improve the diagnostic success rate for these samples. METHODS:A review of 10 years of karyotype results for miscarriages products indicated that 2....
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.2424
更新日期:2010-02-01 00:00:00
abstract::The cytogenetic results of 1500 chorionic villus samples (CVS) are presented. In these 1500 samples, 23 samples (1.5 per cent) could not be provided with a diagnosis because of laboratory failure. This failure rate dropped from 3 per cent in the first 500 samples to 0.2 per cent in the last 500. In the remaining 1477 ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970100206
更新日期:1990-02-01 00:00:00
abstract:BACKGROUND:Ultrasound examination performed on a 32-year old woman at 30 weeks' gestation showed the presence of fetal malformations. Amniocentesis was performed. METHODS AND RESULTS:Cytogenetic analysis of cultured amniocytes revealed an interstitial deletion of the long arm of chromosome 5. Molecular studies confirm...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,评审
doi:10.1002/pd.1386
更新日期:2006-03-01 00:00:00
abstract::During an 8-year period (1984-1992), we made the ultrasonographic diagnosis of cystic adenomatoid malformation (CAM) of the lung in 58 fetuses at 17-39 weeks' gestation. We reviewed the records of these fetuses and combined the data from 74 cases reported in the literature to determine the incidence of the different t...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970140807
更新日期:1994-08-01 00:00:00
abstract::Experience with three prenatally diagnosed pregnancies complicated by an acardiac twin reveals that ultrasonography and echocardiography are helpful in detecting early signs of in-utero congestive heart failure in the normal twin. The use of Doppler blood flow analysis to determine direction of blood flow, post-mortem...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970110405
更新日期:1991-04-01 00:00:00
abstract:OBJECTIVE:The objective of this study is to report the prenatal ultrasound scan findings in four fetuses from two families postnatally diagnosed with 17q12 microdeletion syndrome on microarray CGH and review the literature. METHODS:We report two families presenting with prenatally detected hyperechogenic kidneys. In f...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,评审
doi:10.1002/pd.4701
更新日期:2015-12-01 00:00:00
abstract:OBJECTIVE:Are first trimester serum pregnancy-associated plasma protein-A (PAPP-A), nuchal translucency (NT) and crown-rump length (CRL) prognostic factors for adverse pregnancy outcomes? METHOD:Retrospective cohort, women, singleton pregnancies (UK 2011-2015). Unadjusted and multivariable logistic regression. OUTCOM...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.5069
更新日期:2017-07-01 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: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:OBJECTIVES:Cell-free DNA (cfDNA) screening can provide false positive/negative results because the fetal fraction originates primarily from trophoblast. Consequently, invasive diagnostic testing is recommended to confirm a high-risk result. Currently, there is debate about the most appropriate invasive method. We sough...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4659
更新日期:2015-10-01 00:00:00
abstract:OBJECTIVE:To explore the copy number variants (CNVs) in case of fetal duodenal obstruction (DO) and assess the associated prenatal findings and postnatal outcomes. MATERIALS AND METHODS:This retrospective study reviewed 51 fetuses with DO and the findings of chromosomal microarray analysis (CMA) used as a first-tier t...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.5834
更新日期:2020-09-30 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::Inexpensive and accurate carrier testing for cystic fibrosis (CF) will be possible in the near future. There are no existing studies on the attitudes of English persons in the community to carrier testing for CF or any other recessive disorder. We have conducted a trial study of 166 persons at two schools, two doctors...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970091008
更新日期:1989-10-01 00:00:00
abstract:OBJECTIVE:Pregnant women who receive a high screening risk result for Down, Edwards or Patau syndrome are offered diagnostic tests that carry a risk of miscarriage. This study determined how many women had such tests per syndrome diagnosis. METHOD:The number of tests per Down, Edwards or Patau syndrome diagnosis adjus...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.3866
更新日期:2012-06-01 00:00:00
abstract:OBJECTIVE:The aim of this study was to assess the effect of fetal sex on the accuracy of multiple formulas for sonographic estimation fetal weight (SEFW). METHODS:The cohort included all singleton live births recorded at a single medical center from January 2004 to September 2011. The accuracy of SEFW was compared bet...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4482
更新日期:2014-12-01 00:00:00
abstract::Autosomal recessive polycystic kidney disease (ARPKD) is a rare hereditary disease with a high neonatal mortality. Currently, prenatal diagnosis is possible only during the second half of pregnancy, when bilaterally enlarged, echogenic kidneys are visible by ultrasound. We describe a case in which a diagnosis of ARPKD...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970150914
更新日期:1995-09-01 00:00:00
abstract::Reversed end-diastolic umbilical artery velocities and a reduced chorionic sac were first seen at 10 weeks in a pregnancy subsequently showing a normal male karyotype on chorionic villi. Four weeks later Doppler studies demonstrated normal umbilical artery waveforms. At 20 weeks, ultrasound examination of the fetus re...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/(sici)1097-0223(1998100)18:10<1001::aid-pd
更新日期:1998-10-01 00:00:00
abstract::A chorion villus sample (CVS) biopsied at 11 weeks' gestation for raised nuchal translucency, revealed monosomy X (presumptive 45,X karyotype) by QF-PCR for rapid aneuploidy testing for chromosomes 13, 18, 21, X and Y. Long-term culture gave the karyotype: 47,XY,+ 21[66]/49,XYY,+ 21,+ 21 [22]. This discrepancy prompte...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1519
更新日期:2006-10-01 00:00:00