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Kim Hyungseop - - 2008
BACKGROUND: Patients with heart failure with a preserved ejection fraction (HFPEF) have high N-terminal pro-B-type natriuretic peptide (NT-pro-BNP) level and a high ratio of early transmitral inflow to diastolic velocity of the mitral annulus (E/E') derived from tissue Doppler imaging (TDI). Because left atrial volume indexed to body surface area ...
Czeizel Andrew E - - 2008
The first trimester has been evaluated at different exposures as the critical period of congenital abnormalities. However, the first trimester concept has no scientific basis because environmental agents (teratogens) cannot induce congenital abnormalities during the first gestational month calculated from the first day of the last menstrual period. In addition, ...
Kagan K O - - 2008
OBJECTIVES: To derive a model and examine the performance of first-trimester screening for trisomy 18 by maternal age, fetal nuchal translucency (NT) thickness, and maternal serum free beta-human chorionic gonadotropin (beta-hCG) and pregnancy-associated plasma protein-A (PAPP-A). METHODS: Prospective combined screening for trisomy 21 was performed at 11 + 0 to ...
Odibo Anthony O - - 2008
OBJECTIVE: The purpose of this study was to compare the efficiency of second-trimester nasal bone hypoplasia (NB) and increased nuchal fold (NF) in Down syndrome screening. STUDY DESIGN: This was a prospective multicenter cohort study of women who underwent an anatomic survey between 16 and 22 weeks of gestation. The ...
Müngen Ercüment - - 2008
Placental mesenchymal dysplasia (PMD) is a rare placental abnormality with sonographic and macroscopic features similar to those seen in a partial hydatidiform mole, and which has usually been reported with a normal female karyotype. We report a case of prenatally suspected PMD associated with trisomy 13. Sonography performed at 17 ...
Maiz Nerea - - 2008
OBJECTIVE: To estimate the independent contribution of abnormal flow in the ductus venosus at 11 to 13+6 weeks of gestation in the prediction of major fetal abnormalities and fetal death. METHODS: This was a prospective assessment of singleton pregnancies by maternal history, serum free beta-hCG, pregnancy-associated plasma protein A (PAPP-A), ...
Dahoun Sophie - - 2008
We report on a monochorionic/diamniotic twin pregnancy discordant for trisomy 21. Amniocentesis (at 13(5/7) weeks) was performed following ultrasound signs of hydrops and cystic hygroma in twin 1 (T1). Prenatal karyotype showed non-mosaic trisomy 21 in T1 (47,XX,+21[7]), and low-grade mosaic trisomy 21 in twin 2 (T2) (47,XX,+21[2]/46,XX[19]). Post mortem ...
Wang Yan - - 2008
BACKGROUND: Nuchal cords are rarely associated with significant neonatal morbidity or mortality. CASE: A primigravida with a normal term pregnancy presented for diminished fetal movement. Several nuchal cord loops were found on the ultrasound imaging, with normal Doppler findings. Abnormal fetal heart rate pattern appeared after 6 hours of labor. ...
Borenstein M - - 2008
OBJECTIVE: Trisomy 21 is associated with a flat face, which can now be quantified by measurement of the frontomaxillary facial (FMF) angle. The aim of this study was to examine whether in trisomy 21 fetuses fetal nuchal translucency (NT) thickness and maternal serum free ss-human chorionic gonadotropin (ss-hCG) and pregnancy-associated ...
Bedeschi Maria Francesca - - 2008
OPHN1 mutations cause a syndromic form of mental retardation (MR) characterized by cerebellar hypoplasia, early hypotonia, motor and speech delay, with occasional seizures and strabismus. Here we report on a familial chromosome duplication spanning about 800 Kb of Xq12q13.1, associated with MR and a distinctive phenotype in the affected male, ...
Watson William J - - 2008
OBJECTIVE: The purpose of this study was to examine the sonographic findings in fetuses with trisomy 18 in the second trimester of pregnancy. METHODS: A retrospective review of the cytogenetic laboratory databases at 6 tertiary referral centers identified all cases of trisomy 18. The prenatal sonographic studies in fetuses at ...
Kagan Karl O - - 2008
BACKGROUND: A beneficial consequence of screening for trisomy 21 is the early diagnosis of trisomies 18 and 13. Our objective was to examine the performance of first-trimester screening for trisomies 21, 18 and 13 by maternal age, fetal nuchal translucency (NT) thickness, fetal heart rate (FHR) and maternal serum-free beta-hCG ...
Lal Neena - - 2008
AIM: To study the persistence of nuchal cord by ultrasound at various periods of gestation. METHODS: Ultrasound was done on 200 consecutive pregnant women and nuchal cord was documented at 18-20, 30-32 and 36-38 weeks' gestation. RESULTS: The incidence of nuchal cord was 6% at 18-20 weeks, 7.5% at 30-32 ...
Kagan K O - - 2008
OBJECTIVES: To derive a model and examine the performance of first-trimester combined screening by maternal age, fetal nuchal translucency (NT) thickness and maternal serum free beta-human chorionic gonadotropin (beta-hCG) and pregnancy-associated plasma protein-A (PAPP-A). METHODS: Prospective combined screening for trisomy 21 was carried out at 11 + 0 to 13 ...
Ishimura Toyoho - - 2008
We determined grain-scale heterogeneities (from 6 to 88 microg) in the stable carbon and oxygen isotopic compositions (delta(13)C and delta(18)O) of the international standard calcite materials (NBS 19, NBS 18, IAEA-CO-1, and IAEA-CO-8) using a continuous-flow isotope ratio mass spectrometry (CF-IRMS) system that realizes a simultaneous determination of the delta(13)C ...
Berg C - - 2009
PURPOSE: To evaluate the associated conditions and the outcome of atrioventricular septal defects (AVSD) detected in fetal life. MATERIALS AND METHODS: Retrospective review of all cases of AVSD detected prenatally between 1998 and 2006 in two tertiary referral centers in Germany. RESULTS: 246 cases of AVSD were detected in the ...
Bahtiyar Mert Ozan - - 2008
OBJECTIVE: Counseling patients with an isolated ventricular septal defect (i-VSD) is clinically important because with high-resolution ultrasound equipment, more small muscular VSDs are now being diagnosed. The prevalence of these lesions is not yet completely described, and the frequency with which muscular VSDs resolve in utero has also not been ...
Spencer Kevin - - 2008
BACKGROUND: ADAM12s is a placenta-derived glycoprotein that is involved in growth and differentiation, and has been shown to be a potential first-trimester and second-trimester marker of Trisomy 21 and other aneuploides. Maternal ADAM12s concentrations show a considerable temporal variation with gestational age and here we study the levels at 11-13 ...
Huang Po-Hsun - - 2008
OBJECTIVE: We examined whether the combined use of high-sensitive C-reactive protein (hsCRP) and N-terminal-probrain natriuretic peptide (NT-proBNP) could increase the predictive value for future cardiovascular events. BACKGROUND: hsCRP and NT-proBNP both have been shown to be strong predictors of cardiovascular events in patients with coronary artery disease. Few data are, ...
Kagan K O - - 2008
OBJECTIVES: To use multiple regression analysis to define the contribution of maternal variables that influence the measured concentration of free beta-human chorionic gonadotropin (beta-hCG) and pregnancy-associated plasma protein-A (PAPP-A), and the interaction between these covariates, in first-trimester biochemical screening for trisomy 21. METHODS: This was a multicenter study of prospective ...
Molina F - - 2008
OBJECTIVES: To establish a normal range for the frontomaxillary facial (FMF) angle by three-dimensional (3D) ultrasound imaging and to examine the FMF angle in trisomy 21 fetuses at 16-24 weeks of gestation. METHODS: We measured the FMF angle using 3D volumes of the fetal profile obtained with the transducer parallel ...
Spencer Kevin - - 2008
BACKGROUND: Here we study the levels of ADAM12s prior to and after 10 weeks of gestation to establish further the effectiveness or otherwise of ADAM12s as an early screening marker. MATERIALS AND METHODS: Samples collected as part of routine first-trimester screening were retrieved from storage at - 80 degrees C. ...
Shaw Sheng-Wen - - 2008
OBJECTIVE: To analyse parental decisions regarding pregnancies with sex chromosome abnormalities (SCA). METHODS: Collected and reviewed records from our hospital for 1991-2005. Genetic counselling was provided by obstetricians or perinatologists. RESULT: Among 57 fetuses with SCA were 36 non-mosaic cases (four of 36, 45,X; 12 of 36, 47,XXY; seven of ...
Christiansen Michael - - 2008
BACKGROUND: First-trimester maternal serum screening for Down syndrome (DS) can be improved by the use of additional serum markers. We examined whether progesterone (P), synthesized by placenta, might be a first-trimester maternal serum marker for fetal DS. MATERIALS AND METHODS: P was quantified in first-trimester maternal serum from 42 DS, ...
Clur S A - - 2008
OBJECTIVE: To investigate the congenital heart disease (CHD) found in association with an increased nuchal translucency (NT) at 11-14 weeks of gestation in chromosomally normal and abnormal fetuses. METHODS: Patients referred from January 1998 until May 2007 with an increased NT (> or = 95th percentile) where CHD was diagnosed ...
Morris Joan K JK Centre for Environmental and Preventive Medicine, Wolfson Institute of Preventive Medicine, St. Bartholomew's and the London, Queen Mary's School of Medicine and Dentistry, Charterhouse Square, London, UK. - - 2008
The objective of this study is to determine the risk of fetal loss (spontaneous abortion or stillbirth) following a prenatal diagnosis of trisomy 13 (T13; Patau syndrome) or trisomy 18 (T18; Edwards syndrome). Five regional congenital anomaly registers in England and Wales provided details on the outcomes of 198 pregnancies ...
Crider Krista S KS National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia 30333, USA. - - 2008
In recent years, prenatal diagnosis and elective pregnancy termination have affected the reported birth prevalence of trisomies 13 and 18. We examined the prevalence and characteristics of these conditions using 1994-2003 data from a population-based surveillance system, the Metropolitan Atlanta Congenital Defects Program. Including fetal deaths and elective terminations increased ...
Dane B - - 2008
OBJECTIVE: The aim of this study was to examine fetal and neonatal outcomes in the setting of nuchal translucency (NT) > or =3 mm at routine first-trimester screening. STUDY DESIGN: A nested case-series study within a retrospective cohort of women screened for Down syndrome at 11-14 weeks of gestation. Crown-rump ...
Fauchon D E V - - 2008
OBJECTIVE: To determine the extent to which the fetal anatomy detailed in The Fetal Medicine Foundation Nuchal Translucency software program can be visualized using the stored dataset of a single transabdominal three-dimensional (3D) volume sweep of the entire fetus between 11 and 13 + 6 weeks' gestation. METHODS: Transabdominal 3D ...
Casasbuenas Alexandra - - 2008
OBJECTIVES: The purpose of this study was to investigate the value of first-trimester nuchal translucency (NT) thickness in predicting the pregnancy outcome in monochorionic multiple pregnancies. METHODS: Thirty monochorionic multiple pregnancies were evaluated for NT thickness at a median gestational age of 12 weeks (range, 11-14 weeks). Information on pregnancy ...
Spencer Kevin - - 2008
BACKGROUND: ADAM12s (a disintegrin and metalloprotease) is a placenta-derived glycoprotein that is involved in growth and differentiation and has been shown to be a potential first-trimester and second-trimester marker of trisomy 21 and other aneuploides. Maternal ADAM12s concentrations show a considerable temporal variation with gestational age and in the initial ...
Hoffman Michael L - - 2008
OBJECTIVE: To assess the potential role of folic acid in early pregnancy loss by measuring homocysteine (hcy) levels in healthy, pregnant women who present with a current first-trimester miscarriage. STUDY DESIGN: This was a cross-sectional analysis comprising 13 patients aged 18-31 years old who had a scheduled dilatation and curettage ...
Czeizel Andrew E - - 2008
BACKGROUND: Previously the first trimester, later the 2nd and/or 3rd gestational months were evaluated at the analysis of different exposures in different congenital abnormalities. However, different congenital abnormalities have different critical periods. The objective of this study was to check the feasibility of a new approach to consider the specified ...
Said Soha - - 2008
Nuchal translucency sonography is the most powerful single prenatal marker for Down syndrome. Its detection rate is 75% at a 5% false-positive rate. The combination of nuchal translucency and maternal serum-free beta-human chorionic gonadotropin and pregnancy-associated plasma protein-A can identify 85% to 90% of fetuses with Down syndrome for a ...
Leung W C - - 2008
OBJECTIVES: The application of rapid aneuploidy testing as a stand-alone approach in prenatal diagnosis is much debated. The major criticism of this targeted approach is that it will not detect other chromosomal abnormalities that will be picked up by traditional karyotyping. This study aimed to study the nature of such ...
Chen M - - 2008
OBJECTIVE: To compare the effectiveness of a nuchal scan at 10 to 14 + 6 weeks and a detailed morphology scan at 12 to 14 + 6 weeks in screening for fetal structural abnormalities. METHODS: From March 2001 to November 2004, 8811 pregnant women were randomized into either the control ...
Massie Jamie A M - - 2008
To determine whether an elevated basal FSH concentration is an independent predictor of fetal aneuploidy, as measured in spontaneous abortions (SAB). Retrospective study. Academic reproductive endocrinology and infertility center. All women with karyotypes of chorionic villi isolated from first trimester spontaneous miscarriages at the time of dilation and curettage from ...
Samson M Hessellund - - 2008
OBJECTIVE: Trefoil factors (TFF1-3) are 7-12 kDa peptides secreted by mucosal surfaces, with changing levels of expression reflected in serum concentrations. The genes for the peptides are located on chromosome 21, the chromosome duplicated in trisomy 21. We studied the levels of circulating TFFs in pregnant women carrying trisomy 21 ...
Huissoud Cyril - - 2008
Agnathia is a very rare malformation characterized by the absence of the mandible, which occurs either as an isolated malformation or in association with other deformities. We report the first case of an isolated agnathia diagnosed at 12 weeks due to the absence of the chin; the case was diagnosed ...
Lautrup Charlotte Kvist - - 2008
The aim of this study was to examine the value of testing for a 22q11 microdeletion in fetuses with nuchal translucency (NT) above the 99th percentile (>3.5 mm). A 22q11 microdeletion results in the development of 22q11 deletion syndrome, a spectrum of disorders also known as DiGeorge/Velocardiofacial syndrome. A total ...
Witters I - - 2008
This is a retrospective review of all collected amniotic fluid samples, chorionic villus samples and other fluid-aspirations (hygroma colli fluid/urine from megacystis) over an 11-year period (1996-2006) in a single Genetic Center (University Hospital Gasthuisberg, Leuven), looking at the prenatal diagnosis of trisomy 21. In this study a total of ...
Mange Alain - - 2008
BACKGROUND: Prenatal diagnosis of chromosomal abnormalities by cytogenetic analysis is time-consuming, expensive, and requires highly qualified technicians. Rapid diagnosis of aneuploidies followed by reassurance of women with normal results can be performed by molecular analysis of uncultured foetal cells. In the present study, we developed a proteomic fingerprinting approach coupled ...
Sugiura-Ogasawara Mayumi - - 2008
Information concerning the prognosis of subsequent pregnancies in patients with reciprocal translocations is limited. This study was performed to determine the percentage success rate with first pregnancies after ascertainment of a carrier status. A total of 2,382 couples with a history of two or more consecutive miscarriages were studied in ...
Cheng Po-Jen - - 2008
Althoughmaternally derived X pentasomy following intracytoplasmic sperm injection (ICSI) is rare, prenatal detection of a case offers insight into etiology and diagnosis. A 29-year-old gravida 1 whose pregnancy resulted from ICSI was referred for ultrasound screening at 11 weeks' gestation. Nuchal translucency thickness was 3.2 mm, and the fetal nasal ...
Summers Kim M - - 2008
PURPOSE: A recurrent 17 bp duplication (c.657ins17bp) of a segment of the paired-like homeodomain transcription factor 3 (PITX3) gene on human chromosome 10 has been reported in seven families with autosomal dominant posterior polar cataracts with or without anterior segment mesenchymal dysgenesis (ASMD). ASMD can include Peters anomaly with corneal ...
Samson M Hessellund - - 2007
Objective. Trefoil factors (TFF1-3) are 7-12 kDa peptides secreted by mucosal surfaces, with changing levels of expression reflected in serum concentrations. The genes for the peptides are located on chromosome 21, the chromosome duplicated in trisomy 21. We studied the levels of circulating TFFs in pregnant women carrying trisomy 21 ...
Borrell A - - 2007
OBJECTIVE: To assess second-trimester screening for trisomy 21 by combining ultrasound nuchal fold (NF) measurement with maternal serum biochemistry. METHODS: NF, maternal serum alpha-fetoprotein (AFP) and free beta-human chorionic gonadotropin (beta-hCG) were determined concurrently at 14-19 weeks' gestation in a study population comprising 1813 women with singleton pregnancies, including 1257 ...
Borenstein M - - 2007
OBJECTIVE: To investigate the frontomaxillary facial (FMF) angle in fetuses with trisomy 13 at 11 + 0 to 13 + 6 weeks of gestation. METHODS: A three-dimensional (3D) volume of the fetal head was obtained before karyotyping at 11 + 0 to 13 + 6 weeks of gestation in 23 ...
Borenstein M - - 2007
OBJECTIVE: To establish the normal range of the frontomaxillary facial (FMF) angle at 11 + 0 to 13 + 6 weeks of gestation. METHODS: In this prospective study, three-dimensional (3D) volumes of the fetal head were obtained from 500 pregnancies before fetal karyotyping by chorionic villus sampling (CVS), after screening ...
Quarello Edwin - - 2007
OBJECTIVE: To investigate the involvement of the genes encoding for COL6A1, COLA2 and super-oxide dismutase (SOD) in the mechanism for the retention of subcutaneous fluid in fetuses with trisomy 21. METHODS: During a 7-month period (November 2004-May 2005), human fetal skin from the nuchal region was obtained from euploid fetuses ...
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