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Yoo Hyung Seok - - 2010
Spinal cord stimulation (SCS) is used to manage chronic pain syndromes and it is accepted a cost-effective therapy. Child-bearing women who had SCS become or choose to become pregnant despite these policies pregnancy is a relative contraindication. A 32-year-old woman had SCS as a treatment for the CRPS I of ...
Grunfeld Lawrence - - 2011
To present a case of a fetal loss in which a normal fetal karyotype was obtained by banding studies. Identification of an abnormal maternal karyotype prompted subsequent reanalysis using fluorescence in situ hybridization (FISH). Case report. University-affiliated IVF center. A 32-year-old woman, G1 P0, underwent a fetal loss at 8 ...
Liao Can - - 2010
To evaluate the potential of maternal serum using a disintegrin and metalloprotease 12 (ADAM12) as a marker for Trisomy 21 in Chinese pregnant women. Serum samples were collected and stored from women having a viable singleton pregnancy undergoing first trimester screening for Trisomy 21 between 2006 and 2007. Serum concentration ...
Iruretagoyena Jesus I - - 2010
To investigate the association between fetal echogenic bowel (FEB) during the second trimester and perinatal outcome. A retrospective chart review of FEB during the second trimester over 3 years. A total of 56 women were identified of 9067 screened (0.6%) women. Forty-seven agreed to genetic counseling (84%). Of those, 22 ...
Lai S - - 2010
To evaluate ultrasound scan and other prenatal screening tests for trisomy 18 in a regional obstetric unit and to review the management approach for women with positive trisomy 18 screening results. Prenatal diagnosis databases were accessed to identify fetuses that had confirmed trisomy 18 karyotypes or were at high risk ...
Vicario Roberta - - 2010
To establish the normal range of frontonasal angle (FNA) at 11+0 to 13+6 weeks of gestation and the feasibility of FNA measurement, evaluate the correlation of such a parameter with crown-rump length (CRL) and nuchal translucency (NT) and assess the potential of FNA in improving the performance of first trimester ...
Pasquini L - - 2010
To evaluate the effect of tissue harmonic imaging (THI) on the measurement of fetal nuchal translucency thickness (NT). One-hundred and three pregnant women underwent first-trimester NT measurement according to The Fetal Medicine Foundation criteria. NT was evaluated using conventional ultrasonography (CUS) and THI without modifying any other ultrasound parameter (e.g. ...
Spencer K - - 2010
To evaluate the influence of maternal insulin-dependent diabetes mellitus (IDDM) on maternal serum free ß-hCG, pregnancy-associated plasma protein-A (PAPP-A) and fetal nuchal translucency (NT) thickness from 11 weeks to 13 weeks 6 days of gestation in a large cohort of women screened prospectively for chromosomal anomalies. Information on maternal IDDM ...
Wright D - - 2010
To establish an algorithm for first-trimester combined screening for trisomy 21 with biochemical testing from 7 to 14 weeks' gestation and ultrasound testing at 11-13 weeks. This was a multicenter study of 886 pregnancies with trisomy 21 and 222 475 unaffected pregnancies with measurements of free β-human chorionic gonadotropin (β-hCG) ...
Schmidt Peter - - 2011
Abnormal yolk sac size is associated with fetal miscarriage. This is a case report of two pregnancies with abnormal yolk sacs. In one case, a twofold sac was found; in the other case, the yolk sac was not of spherical form. Currently available publications demonstrate a correlation between abnormal yolk ...
Madsen Helen N - - 2010
The objective was to examine the applicability of the two biochemical markers PAPP-A and free beta-hCG for fetal trisomy 21 (T21) in very early pregnancy: gestational weeks (GA) 6 and 7. Medians for the two markers were generated on 36,745 fetal T21 unaffected pregnancies from gestational weeks 6-14. Concentrations were ...
Mazza Vincenzo - - 2010
We report on the case of a patient with mosaic trisomy 22, who was diagnosed prenatally by amniocentesis during the 16(th) week of pregnancy. In the foetus, three trisomic clones were found out of the nine that were analyzed (the other six clones had a 46,XY karyotype). Cytogenetic analysis of ...
Huang Shang-Yu - - 2010
OBJECTIVE: To determine the relation between intracardiac echogenic focus (ICEF) and trisomy 21 in a population of fetuses previously evaluated by first-trimester combined screening. DESIGN: Prospective study to evaluate the prevalence of trisomy 21 for four groups of pregnancies: those with isolated ICEF, those with ICEF and positive first-trimester combined ...
Mavromatidis Georgios - - 2010
Non-mosaic trisomy 20 is a rare trisomy and almost all affected fetuses do not survive past the first trimester of the pregnancy. Severe abnormalities are frequently present in these embryos. We report the case of prenatally diagnosed non-mosaic trisomy 20 with only minor anomalies in the fetus. At external examination ...
Picchiassi Elena - - 2010
The discovery of placental transcripts in peripheral blood of pregnant women prompted us to investigate which was the most appropriate biological specimen, between plasma and serum, to easily detect them and to exploit hPL (human placental lactogen), betahCG (human chorionic gonadotrophin beta-subunit), LOC90625, and TFPI2 (tissue factor pathway inhibitor 2) ...
Chen Min - - 2011
Objectives.?To establish the normal range of frontomaxillary facial (FMF) angle in the first trimester in a Chinese population. Methods.?In a prospective study from March 2007 to June 2007, three-dimensional (3D) volumes of the fetal profile in the mid-sagittal plane were recorded from 129 Chinese pregnant women who were screened for ...
Sahota D S - - 2010
To compare the likelihood ratios (LR) determined for a measured nuchal translucency (NT) using the multiples of the median (MoM), delta-NT and mixture model approaches. This was a retrospective study of singleton pregnancies with known outcome screened at the 12(th) week of pregnancy between January 2006 and May 2008. NT, ...
Angiolucci M - - 2011
To identify the abnormal transvaginal ultrasound (TVS) findings typical of aneuploidic pregnancies that end with early pregnancy loss (EPL). This was a prospective clinical trial over a 2½-year period from January 2004 to June 2006 at the University Hospital of Cagliari, Italy. One hundred and fifty-six singleton pregnancies with EPL ...
Cowans N J - - 2010
OBJECTIVE: To examine placental growth factor (PlGF) levels in first trimester maternal serum in trisomy 21 pregnancies and to investigate the potential value of PlGF in a first trimester screening test. METHODS: First trimester maternal serum from 70 trisomy 21 cases and 375 euploid controls were retrospectively analyzed for PlGF ...
Abele H - - 2010
OBJECTIVE: Screening for trisomy 21 by fetal nuchal translucency (NT) thickness at 11 to 13 + 6 weeks' gestation requires an appropriate examination of the NT. Errors in the assessment of NT may lead to an under- or overestimation of the NT and to incorrect patient-specific risks. In this study ...
Abu-Rustum Reem S - - 2010
OBJECTIVE: The purpose of this series was to determine the sensitivity of ultrasonography in early gestation (UEG) using nuchal translucency (NT) and the 4-chamber view (4CV) in the early diagnosis of congenital heart defects (CHDs). METHODS: This was a retrospective chart review of all patients presenting for UEG between 2002 ...
Habayeb Osama - - 2010
INTRODUCTION: The performance of pregnancy-associated plasma protein-A (PAPP-A) as a first trimester trisomy 21 marker is hypothesized to improve below 11 weeks, whereas beta-human chorionic gonadotrophin (hCG) is better after 14 weeks. We audited a model combining early PAPP-A (9-10 weeks) with NT (11-13 weeks and 6 days) and early ...
Sifakis Stavros - - 2010
Fetal cells exfoliate in the uterine cavity during early pregnancy and are a potential source of material for NIPD. This study was designed to test the hypothesis that fetal cells obtained from the uterine cervix during the first trimester of pregnancy could be utilized for prenatal diagnosis of chromosomal aneuploidy. ...
Sifakis Stavros - - 2010
OBJECTIVE: To describe the outcome of pregnancies with trisomy 2 in cultures of first-trimester chorionic villous samples (CVS) and determine whether amniocentesis is necessary in the management of such cases. METHODS: Cultures of chorionic villi were performed at 11-13 weeks in 37 474 pregnancies. In those with trisomy 2 cells, ...
Sifakis Stavros - - 2010
OBJECTIVE: To investigate the maternal serum concentration of human placental growth hormone (hPGH) in trisomy 21 and trisomy 18 pregnancies at 11 to 13 weeks of gestation and to examine the possible association between fetal nuchal translucency (NT) thickness and maternal serum free beta-human chorionic gonadotrophin (beta-hCG) and pregnancy-associated plasma ...
Chen Chih-Ping - - 2010
Prenatal ultrasound is a powerful tool to detect structural abnormalities associated with the fetuses in trisomy 13 pregnancies. This article provides a comprehensive review of the prenatal sonographic markers of trisomy 13 in the first trimester, including fetal nuchal translucency thickness, fetal heart rate, fetal nasal bone, fetal tricuspid regurgitation, ...
Sepulveda Waldo - - 2010
OBJECTIVE: To report our experience with first-trimester sonographic findings in pregnancies complicated by trisomy 18. METHODS: Proven cases of trisomy 18 undergoing sonographic examination between 11 + 0 and 13 + 6 weeks of gestation were retrospectively identified. Information on maternal demographics, prenatal sonographic findings, and chromosomal analysis results was ...
Sananes N - - 2010
OBJECTIVE: Many studies have shown that an increased nuchal translucency (NT) may be a good marker of fetal heart malformation, but the extent to which NT is suitable for identifying the population at risk remains unclear. We aimed to determine the value of NT measurement and of the presence of ...
Martínez J M - - 2010
OBJECTIVE: To evaluate the independent contribution of ductus venosus (DV) blood flow assessment at 11-14 weeks' gestation to the prediction of congenital heart defects (CHD) in chromosomally normal fetuses, irrespective of the value of the nuchal translucency thickness (NT). METHODS: During a 4-year period, all singleton pregnancies from 11 + ...
Choy Kwong Wai - - 2010
BACKGROUND: Fetuses with increased nuchal translucency but apparently normal karyotypes may have small genetic defects that are undetectable by conventional cytogenetic studies. Microarray comparative genomic hybridization (array comparative genomic hybridization) may help prenatal diagnosis by revealing small genetic defects. CASE: A patient presented with a fetus with large nuchal translucency ...
Bilardo C M - - 2010
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 structural defects and genetic syndromes. The risk of ...
Loncar Dragan - - 2010
A combined test performed at the 12th week of gestation enables us to classify the pregnancy as high risk (risk higher than 1:300) or low risk (risk lower than 1:300) for congenital foetal anomalies, with great accuracy of 85 - 90%. According to the available data, the frequency of false ...
Zimmer Etan Z - - 2010
PURPOSE: To describe a series of cases of late-onset fetal nuchal translucency in Down syndrome. METHOD: In our practice area, most pregnant women usually undergo 3 different sonographic examinations: a fetal nuchal translucency examination in the 1st trimester and 2 detailed surveys of all fetal organs in the early 2nd ...
Defant Jennifer - - 2010
OBJECTIVE: Microchimerism has been investigated as a possible contributor to the pathophysiology of preeclampsia. Although trisomy 21 is associated with pronounced microchimerism, it has not been connected with an increased risk of preeclampsia. Our objective was to readdress the relationship between preeclampsia and trisomy 21 in a large population. METHODS: ...
Coman D - - 2010
The identification of trisomy mosaicism in the prenatal setting is often shrouded with uncertainty for the genetic counsellor, and more importantly for the parents. The outcomes for these pregnancies may well be normal, but abnormalities and even in utero death are possibilities depending on the chromosomal abnormality and the degree ...
Alphonse Jennifer - - 2010
The aim of this study is to (i) directly compare both two-dimensional (2D) and three-dimensional (3D) frontomaxillary facial angle (FMFA) in first trimester, and (ii) to assess the ease with which both may be performed. Both 3D volumes of the fetal head and 2D fetal profiles were collected from 251 ...
Milnerowicz-Nabzdyk Ewa - - 2010
The aim of this study was to determine the characteristic features of the umbilical cord morphology in selected cases of intrauterine growth restriction (IUGR): tobacco smoking, pregnancy-induced hypertension and idiopathic IUGR. 136 pregnant women were included in the study - 86 patients with IUGR (IUGR group) and 50 women with ...
Akolekar Ranjit - - 2010
OBJECTIVE: To investigate whether the maternal serum concentration of placental protein 13 (PP13) is altered in chromosomally abnormal pregnancies and to examine the potential value of this placental protein in screening for aneuploidies at 11-13 weeks. METHODS: The maternal serum concentration of PP13 at 11-13 weeks was compared in 536 ...
Takahashi Hironori - - 2010
We present three cases of trisomy 9 mosaicism diagnosed by amniocentesis with ongoing pregnancies after referral to our center due to fetal abnormalities. Two cases were associated with severe fetal growth restriction (FGR), each of which resulted in an intrauterine fetal demise (IUFD) in the third trimester. The other case ...
Maiz Nerea - - 2010
In the first trimester the ductus venosus can be easily identified with color Doppler and a ductus venosus waveform can be obtained by pulsed Doppler. At 11-13 weeks the prevalence of abnormal a-wave in the ductus venosus is inversely related to fetal crown-rump length and maternal serum pregnancy-associated plasma protein-A ...
Tørring Niels - - 2010
A disintegrin and metalloprotease 12 (ADAM12-S) has previously been reported to be significantly reduced in maternal serum from women with fetal aneuploidy early in the first trimester and to significantly improve the quality of risk assessment for fetal trisomy 21 in prenatal screening. The aim of this study was to ...
Merz Waltraut M - - 2010
OBJECTIVE: We aimed to investigate the range of fetal NT-proBNP values in normal pregnancy between 20 and 34 weeks of gestation. METHOD: NT-proBNP was measured in 56 fetal blood samples. RESULTS: Mean (+ or - 2 SD) NT-proBNP concentration was 1998 (242-3754) ng/L; a significant decline occurred with advancing gestational ...
Chen Chih-Ping - - 2009
Prenatal ultrasound is a powerful tool for the detection of structural abnormalities of fetuses in trisomy 13 pregnancies. This article provides a comprehensive review of the prenatal sonographic features of trisomy 13 fetuses in the second and third trimesters, including cystic hygroma and nuchal edema, congenital heart defects, hydrops fetalis, ...
De Souza Elizabeth - - 2009
The objective was to establish whether the risk of trisomies 13, 18, and 21 (Patau, Edwards, and Down syndrome, respectively) in a subsequent pregnancy is raised for women who have had a previous pregnancy with trisomy 13, 18, or 21. Birth defect register data were used to investigate this issue. ...
Koster M P H - - 2009
OBJECTIVE: To determine whether Placental Protein 13 (PP13) could be an additional marker in first trimester screening for aneuploidies. METHODS: To evaluate differences in multiples of the gestation-specific normal median (MoMs), PP13 concentrations were measured in serum samples from Down syndrome, trisomy 18 and 13 affected pregnancies and euploid singleton ...
Spencer Kevin - - 2009
OBJECTIVE: To re-evaluate in a larger cohort of patients if the maternal serum biochemical markers used in first trimester aneuploidy screening have the same marker distributions in pregnancies with a previous history of aneuploidy compared with those that have no previous history. METHODS: Information related to previous pregnancy history is ...
Chen Min - - 2009
OBJECTIVE: To evaluate the measurement of frontomaxillary facial (FMF) angle at 11 weeks to 13 weeks, 6 days in a Chinese population and its applicability in the screening for fetal trisomy 21. METHOD: In a retrospective study, the stored images for the measurement of fetal nuchal translucency (NT) thickness in ...
Pastorino Daniela - - 2009
We offered a modified stepwise sequential integrated screening for Down syndrome to 72 singleton and 16 twin pregnancies obtained with assisted reproductive techniques, observing no cases of trisomy 21 and obtaining a false positive rate of 10% in singleton and 7% in twin pregnancies. In our population, this approach for ...
Marcus-Braun N - - 2009
BACKGROUND: Current risk calculations for trisomy 21, which are based on multiples of median (MoM), do not take into account possible differences between euploid and trisomy 21 pregnancies that may develop with gestational age. In order to optimize the predictive value of screening tests, we calculated the ratio between maternal ...
Hadi Efrat - - 2009
Trisomy 21 is the most common chromosomal abnormality among persons with intellectual disability, with a live birth rate of 1 in 800-1,000. As such, this abnormality may serve as a model for human disorders that result from supernumerary copies of a genomic region. Down syndrome carries an increased risk of ...
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