Search Results
Results 301 - 350 of 905
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Avgidou Kyriaki - - 2005
OBJECTIVE: This study was undertaken to evaluate the performance of a 1-stop clinic for first-trimester assessment of risk (OSCAR) for trisomy 21 by a combination of maternal age, fetal nuchal translucency (NT) thickness, and maternal serum-free ss- human chorionic gonadotrophin (hCG) and pregnancy-associated plasma protein-A (PAPP-A). STUDY DESIGN: OSCAR was ...
Vandecruys H - - 2005
OBJECTIVE: To determine whether in screening for trisomy 21 by measurement of fetal nuchal translucency (NT) thickness in monochorionic twin pregnancies it is preferable to use the higher, smaller or average NT. METHODS: We retrospectively examined 769 monochorionic twin pregnancies that had undergone NT screening. The selection criteria were that ...
Sharony Reuven - - 2005
OBJECTIVES: The detection of fetal lateral neck cysts (FLNC) may create anxiety and confusion among pregnant woman and their physicians. We attempted to determine the incidence and significance of FLNC. Also, we tried to define the importance of the associated findings: the laterality of the finding, triple test results, maternal ...
Prefumo Federico - - 2005
OBJECTIVE: Assessing the role of fetal ductus venosus and nasal bones evaluation in first-trimester screening for Down syndrome. METHODS: This was a prospective cohort study in a tertiary referral fetal medicine unit involving 628 consecutive fetuses undergoing chorionic villus sampling. The indication for chorionic villus sampling was an increased risk ...
Bahado-Singh Ray O - - 2005
OBJECTIVE: We sought to evaluate the association between first trimester nuchal translucency measurement and the risk for major congenital heart defect in chromosomally normal fetuses. STUDY DESIGN: First trimester (10 weeks 4 days of gestation to 13 weeks 6 days of gestation) nuchal translucency was obtained in a large prospective ...
Chen Chih-Ping - - 2005
OBJECTIVES: To present the prenatal diagnosis and molecular cytogenetic analysis of de novo proximal interstitial deletion of 9q and to review the literature of uncommon aneuploidies associated with increased nuchal translucency (NT). CASE: Obstetric ultrasound at 11 weeks' gestation revealed an increased NT thickness of 6.6 mm in a 31-year-old ...
Destree A - - 2005
We report on a fetus with multiple congenital anomalies detected at the prenatal ultrasound examination and a trisomy 6 mosaicism in the amniocytes. The pregnancy was interrupted in the 18th gestational week and the autopsy revealed malformations including cleft right hand, arthrogryposis and hypoplasia of the 4th digit of the ...
Spencer K - - 2005
OBJECTIVE: To examine the levels of free beta-human chorionic gonadotrophin (free beta-hCG) and pregnancy-associated plasma protein-A (PAPP-A) in second-trimester maternal serum from pregnancies affected by trisomy 13 and compare these with the known reduced levels of these markers in first-trimester cases in an attempt to better understand the pathophysiology of ...
Venkat-Raman N - - 2005
Increased nuchal translucency thickness (NT) is an established sonographic marker of fetal chromosomal abnormality. Several structural fetal defects and genetic syndromes including a range of skeletal dysplasias have been reported in association with increased NT. We report the first case of fetal Ellis-Van Creveld syndrome presenting as raised fetal NT ...
Aicardi Jean - - 2005
Aicardi syndrome (AS) is characterized by a triad of callosal agenesis, infantile spasms and chorioretinal 'lacunae'. It occurs only in individuals with two X chromosomes and is not familial. The outcome of AS is severe, with a high early mortality, considerable morbidity and a generally poor developmental outcome. However, the ...
Tonni Gabriele - - 2005
A 30-year-old woman, gravida 2, para 1, was referred for nuchal translucency, free beta-human chorionic gonadotropin (beta-hCG), and pregnancy-associated plasma protein A (PAPP-A) screening at 12 weeks gestation. The nuchal translucency was increased to 3.8 mm, resulting in a post-test result of 1:15 risk for Down syndrome by a combination ...
Machatkova Marina - - 2005
Study of parental/meiotic origin of free trisomy 21 in nuclear families from Russia (70 cases), Ukraine (32 cases), and 22 from Germany revealed maternal nondisjunction in 77.3% (Germany), 93.8% (Ukraine), and 91.4% (Russia), paternal origin in 13.6%, 6.2%, and 8.6%, respectively. Maternal meiosis I errors were found in 84.4% (Ukraine), ...
Busch Anne - - 2005
A surface-enhanced laser desorption/ionization time of flight (SELDI-TOF)-based ProteinChip System was used as a tool for rapid discovery and identification of protein patterns in serum that discriminate between trisomy 21 and unaffected pregnancies. We analyzed 24 serum samples from women carrying a trisomy 21 pregnancy and 32 with an unaffected ...
Nicolaides K H - - 2005
OBJECTIVES: To evaluate the performance of first-trimester screening for trisomy 21 by a combination of maternal age, fetal nuchal translucency (NT) and maternal serum free beta-human chorionic gonadotropin (beta-hCG) and pregnancy-associated plasma protein-A (PAPP-A). In addition, the potential impact of a new individual risk-orientated two-stage approach to first-trimester screening was ...
Bekker M N - - 2005
OBJECTIVE: To investigate the presence and volume of jugular lymphatic sacs (JLS) in first-trimester fetuses with normal nuchal translucency thickness (NT) and in those with increased NT. METHODS: This was a prospective study of 26 fetuses with NT > 95(th) percentile, which were compared with 137 fetuses with normal NT. ...
Livadas Sarantis - - 2005
OBJECTIVE: To provide data for pregnancies in girls with Turner syndrome. Only 5%-10% of TS girls undergo spontaneous puberty and have menses. Spontaneous pregnancy occurs in 2%-7% of TS girls and is associated with a high rate of miscarriages, stillbirths, malformations, and chromosomal aberrations. Besides fetal problems, pregnancy in TS ...
Ahmad G - - 2005
Renal pelvis dilatation is a common anomaly detected at the 20-week anomaly scan. The aim of this study was to evaluate the postnatal outcome of fetal pyelectasis in an unselected obstetric population. This was a retrospective study of fetal pyelectasis detected at midtrimester anomaly scan. Fetal pyelectasis was classified as ...
Makrydimas George - - 2005
OBJECTIVE: Increased fetal nuchal translucency is associated with increased risk for congenital heart defects. In the present study, we aimed to investigate whether fetal nuchal translucency distribution differs among different types of congenital heart defects and whether it can lead to an earlier diagnosis. STUDY DESIGN: Four fetal echocardiography units ...
Sifakis Stavros - - 2004
We report a case of trisomy 2 mosaicism detected upon amniocentesis in a woman with advanced maternal age. A mos 47,XY,+2(4)/46,XY(21) karyotype was revealed using standard GTG banding. There were no pathological sonographic findings and the fetal size was normal for gestational age at 16th week. The use of serial ...
Friedberg Mark K - - 2004
OBJECTIVES: We hypothesized that increased facility with fetal echocardiographic diagnosis by obstetricians is associated with changes in its indications and yields. METHODS: We reviewed 300 fetal echocardiograms (December 2002-August 2003) and compared our findings with previous studies. RESULTS: Mean maternal age was 31 +/- 6 (range 16-44) years. Gestational age ...
Cools Martine - - 2004
OBJECTIVE: To describe a woman with a nonmosaic (45,X) form of Turner's syndrome who gave birth to a girl with 45,X Turner syndrome. DESIGN: Patient report. SETTING: Outpatient clinic of a university hospital. PATIENT(S): A woman with typical phenotypic features of Turner syndrome and a 45,X karyotype and her daughter ...
Krantz David - - 2004
OBJECTIVE: The purpose of this study was to determine the association between first-trimester trisomy 21 screening markers (free human chorionic gonadotropin-beta [hCG], pregnancy-associated plasma protein A [PAPP-A], and nuchal translucency) and adverse pregnancy outcome. STUDY DESIGN: This was a cohort study of 8012 patients enrolled in a National Institute of ...
Morikawa Mamoru - - 2004
OBJECTIVE: The aim of this study was to assess pregnancy loss patterns in women with repeated miscarriage (RM), according to fetal chromosome karyotypes and aetiologies of RM. METHODS: In this cohort study, 168 fetal chromosome karyotypes of miscarriages were investigated. The pregnancy loss patterns were compared between 75 miscarriages from ...
Müller M A - - 2004
OBJECTIVE: The aim of this study was to investigate the natural course of enlarged nuchal translucency (NT) and to determine if its disappearance before 14 weeks' gestation is a favorable prognostic sign in relation to fetal karyotype and pregnancy outcome. METHODS: A total of 147 women with increased NT (> ...
Goetzl Laura - - 2004
OBJECTIVE: To estimate the likelihood of clinical early and late pregnancy loss as a function of first-trimester maternal serum analytes and fetal nuchal translucency measurements. METHODS: Study subjects were recruited for a National Institute of Child Health and Human Development-sponsored multicenter cohort study initially designed to study the detection of ...
Michel-Calemard Laurence - - 2004
This is the first report of a fetus affected with campomelic acampomelic dysplasia presenting with increased nuchal translucency. Ultrasonography at 13 weeks of amenorrhea showed a nuchal translucency 5.6 mm thick. The karyotype performed on amniotic fluid cells was normal (46,XY). Ultrasonography at 22 weeks revealed a normal femoral length ...
Borrell Antoni - - 2004
OBJECTIVE: To assess the effectiveness of the Combined Test in the prenatal detection of trisomy 21 in the general pregnant population using a new timing for the screening approach. METHODS: First-trimester maternal serum biochemical markers (pregnancy-associated plasma protein-A and free-beta hCG) were determined in maternal serum at 7 to 12 ...
Nicolaides Kypros H - - 2004
There is extensive evidence that effective screening for major chromosomal abnormalities can be provided in the first trimester of pregnancy. Prospective studies in a total of 200,868 pregnancies, including 871 fetuses with trisomy 21, have demonstrated that increased nuchal translucency can identify 76.8% of fetuses with trisomy 21, which represents ...
Makrydimas George - - 2004
Prenatal sonographic diagnosis of fetal akinesia deformation sequence (FADS) is usually achieved during the second and third trimester of pregnancy and relies on the demonstration of contractures of multiple joints, paucity of fetal movements and nuchal edema or generalized hydrops. We present the early diagnosis of FADS in a 13-week ...
Chen Chih-Ping - - 2004
OBJECTIVES: To present the prenatal diagnosis of complete trisomy 9 and to review the literature CASE: A 25-year-old primigravida woman was referred for amniocentesis at 19 weeks' gestation because of abnormal maternal screen results showing an elevated maternal serum alpha-fetoprotein (MSAFP) level and a low maternal serum free beta-human chorionic ...
Wataganara Tuangsit - - 2004
Six years after the demonstration of the presence of cell-free fetal nucleic acids in maternal plasma, perinatal clinical applications continue to expand. The focus of this article is on advances that have occurred since the CNAPS II conference held in Hong Kong in 2001. Circulating fetal DNA levels (fDNA) are ...
Gittenberger-De Groot Adriana C - - 2004
Ultrasound measurement of increased nuchal translucency is a method of risk assessment for heart malformations and trisomy 21 in human pregnancy. The developmental background of this nuchal edema is still not sufficiently understood. We have studied the process in trisomy 16 mice that show nuchal edema and heart malformations. We ...
Hammerer-Lercher Angelika - - 2004
BACKGROUND: We compared the performance of different natriuretic peptides to diagnose mild forms of left ventricular dysfunction (LVD) and investigated the influence of measuring B-type natriuretic peptide (BNP) and N-terminal proBNP (NT-proBNP) with different assays on the diagnostic performance of these markers. METHODS: We measured BNP (Triage BNP), NT-proBNP (Biomedica), ...
Bulbul Y - - 2004
We report a case of diprosopus presenting with increased nuchal translucency of 5.3 mm at 14 weeks of gestation. Ultrasonographically, the fetus presented with micrognathia, anterior indentation of the cephalic pole, abnormal cerebral hemispheres with a cystic 4th ventricle and angulation of the spine. The fetal karyotype was normal (46,XX). ...
Maymon R - - 2004
OBJECTIVE: To evaluate the outcome of euploid fetuses with increased nuchal translucency thickness (NT) expressed in multiples of the median (MoM) or delta-NT. METHODS: Included in the study were euploid fetuses with increased NT >or= 95(th) centile, for which information about pregnancy outcome was available. The following parameters were defined ...
Faivre Laurence - - 2004
Achondrogenesis type II is a lethal skeletal dysplasia caused by new dominant mutations within the type II collagen gene (COL2A1). Here we report on two pregnancies of a healthy, nonconsanguineous young couple. In the first pregnancy, severe micromelia and generalized edema were noted on ultrasound at 21 weeks' gestation. Clinical, ...
Maslovitz Sharon - - 2004
OBJECTIVE: To assess the feasibility of nuchal translucency in triplets compared with singletons. METHODS: Nuchal translucency thickness as part of routine first-trimester screening in the general population was compared between 3128 singleton pregnancies and 51 triplets (153 fetuses). Crown-rump length was also noted. The 5th, 50th, and 95th percentiles were ...
Souter Vivienne L - - 2004
OBJECTIVES: To investigate correlations between sonographic soft markers and biochemical markers (human chorionic gonadotrophin, alpha-fetoprotein, and estriol) for Down syndrome in the second trimester of pregnancy. METHODS: A total of 2183 women with apparently normal singleton fetuses who underwent second-trimester sonography (14-22 weeks) and maternal serum biochemical testing (triple test) ...
Toyama J M - - 2004
OBJECTIVE: To evaluate the association between abnormal ductus venosus (DV) at 11-14 weeks' gestation and chromosomal abnormalities, structural defects and fetal outcome. METHODS: DV flow-velocity waveform (DV-FVW) and nuchal translucency thickness (NT) were prospectively evaluated in 1217 singleton pregnancies. RESULTS: The DV-FVW was abnormal in 84 fetuses, NT was above ...
Pidoux G - - 2004
Although trisomy 21 (T21) is the most frequent genetic abnormality and some maternal serum markers for this fetoplacental aneuploidy are of placental origin, little is known of its impact on placental development. We therefore studied the influence of T21 on trophoblast behaviour. Using cultured cells from 46 human T21 pregnancies, ...
Lamont R F - - 2004
OBJECTIVES: To determine the prevalence of and the association between trisomy 21 and isolated fetal echogenic cardiac foci (FECF) identified in the second trimester in an unselected low-risk population. METHODS: All cases with isolated FECF were collected by reviewing the antenatal ultrasound database for 3 consecutive years. In order to ...
Rotmensch Sigi - - 2004
OBJECTIVE: Nonseptated cystic hygromata of the fetal neck in midtrimester of pregnancy have been associated with chromosomal and structural malformations. Consequently, fetal karyotyping is frequently offered. We describe 18 families in which 18 pairs of siblings were affected by transient nonseptated cystic hygromata in utero. METHODS: Over a seven-year period, ...
Zhang Jun - - 2004
BACKGROUND: Placental trophoblast shedding into maternal circulation has been hypothesized as a potential cause of preeclampsia. Because pregnancies with a trisomy 21 fetus also have high levels of fetal cells and cell-free fetal DNA in maternal circulation, we examined whether trisomy 21 pregnancies have a higher risk of preeclampsia than ...
Pata Yavuz Selim - - 2004
Presbycusis is defined as the natural hearing loss accompanying aging, caused by degenerative changes in the inner ear. The etiology of presbycusis is uncertain. However, it would appear that a complex genetic cause is most likely. The determinants of mastoid size continue to be controversial. One of the pneumatization theories ...
Bronsteen Richard - - 2004
OBJECTIVE: This report presents the findings seen on initial second-trimester sonography in a large group of fetuses with trisomy 18. The object of this study was to describe the types and frequencies of abnormal sonographic findings seen and to further evaluate those cases in which no abnormal findings were noted. ...
Prefumo Federico - - 2004
OBJECTIVES: Failure to visualise the fetal nasal bones at 11-14 weeks of gestation is associated with a significant increase in the risk for trisomy 21. However, it is not known whether the ethnic origin of the mother has any effect on the fetal profile and the prevalence of this marker. ...
Chen Ming - - 2004
We report a patient whose chorionic villus sampling showed a nonmosaic trisomy 13 [46,XX,der(13;13)(q10;q10)]. Subsequent amniocentesis and cordocentesis showed varying percentages of abnormal cells (77 and 78% in two amniocentesis; 14% in cordocentesis) and mosaic trisomy 13 was impressed. Prenatal fetal ultrasound scanning revealed only mild structural abnormalities (echogenic cardiac ...
Chung Jin-Hoon - - 2004
The aim of present study was to establish normative data for the distribution of nuchal translucency (NT) thickness in normal Korean fetuses. The data were collected from pregnant women with singleton pregnancies in whom fetal ultrasound was performed and the fetal NT thickness was measured between 11 and 14 weeks ...
Banzai Michio - - 2004
Most chromosomal trisomies lead to miscarriages. In all trisomies, trisomy 1 is the most rare case. We herein present a patient who demonstrated a gestational sac and a yolk sac on transvaginal ultrasound. However, at 53 days of gestation, the pregnancy was lost with a diagnosis of a blighted ovum. ...
Cheng C-C - - 2004
OBJECTIVES: The purpose of this study was to evaluate the outcomes of pregnancies with nuchal translucency greater or equal to 3 mm for routine first trimester screening in unselected populations. METHODS: A total of 2980 pregnant women for first trimester ultrasonography were routinely offered crown-rump length (CRL) and nuchal translucency ...
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