Search Results
Results 201 - 250 of 906
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Shrestha N S - - 2007
OBJECTIVE: to find out the incidence of nuchal cord at delivery, intrapartum complication and perinatal outcomes in the cases with nuchal cord. MATERIALS AND METHODS: A prospective, cross-sectional, comparative study done at Kathmandu Medical College Teaching Hospital (KMCTH) between March 2006 to September 2006. Total 512 deliveries occurred during this ...
Bilardo C M - - 2007
OBJECTIVES: To study the outcome of pregnancy in chromosomally normal fetuses with increased nuchal translucency thickness (NT), with respect to fetal loss, structural defects and genetic syndromes with developmental delay, and to provide information that would be helpful for parental counseling on the residual risk of adverse outcome when ultrasound ...
Babić Ivana - - 2007
This communication presents the first case of complete trisomy 19q, prenatally detected by ultrasound investigation. Real-time high-resolution ultrasound examination was performed at 19 weeks of gestation. After termination of the pregnancy, autopsy investigation was done. GTG-banding, fluorescence in situ hybridization m-(FISH) analysis, and FISH analysis with a 19q subtelomeric specific ...
Pelikan Harold M P - - 2007
OBJECTIVE: Case report of a rare combination of a trisomy 18 and 21 in a dizygotic twin pregnancy in a woman with a history of recurrent miscarriage, a neonatal death, no living offspring and Graves disease. METHODS: Case report and literature search. RESULTS: Only one other report in the literature ...
Sepulveda Waldo - - 2007
OBJECTIVE: To report our experience with first-trimester screening for trisomy 21 by using the combination of nuchal translucency thickness and nasal bone assessment. METHODS: Pregnant women from a predominantly Latin American population consisting of patients at both low risk and high risk for chromosomal defects underwent first-trimester ultrasonographic screening. Nuchal ...
Piazze J - - 2007
BACKGROUND: Thickened nuchal translucency (NT) has been related to fetal genetic syndromes, structural abnormalities, and other diseases. The aim of this research was to evaluate the association of NT with adverse pregnancy outcomes. STUDY DESIGN: In the period 2002-2004 in 2104 pregnant women between 10+6 and 13+5 weeks' gestation, NT ...
Batukan Cem - - 2007
OBJECTIVE: Clinical features of the distal 10q trisomy syndrome consist of mental retardation, facial dysmorphism and renal and cardiac anomalies. The presence of a sacrococcygeal teratoma (SCT) in a fetus with distal 10q trisomy has not been reported yet. METHODS: A 33-year-old, G5, P2 woman with a singleton pregnancy was ...
Tonni Gabriele - - 2007
Failed ultrasonographic visualization of nasal bones is associated with an increased risk of fetal malformations. Maternal ethnicity and chromosomal abnormalities influence the incidence and visualization rate of nasal bones. A case of absent nasal bones with fronto-nasal dysplasia and septated cystic hygroma identified at 13(+5) weeks' gestation in a trisomy ...
Kozlowski P - - 2007
OBJECTIVE: To evaluate and compare the screening performance for fetal trisomy 21 in the first trimester of pregnancy in general gynaecologists' practices and specialised centres for prenatal care in Germany. METHODS: This study included 15,026 serum samples analysed in our laboratory for free beta-human chorionic gonadotropin (hCG) and pregnancy-associated plasma ...
Spencer Kevin - - 2007
This article reviews the performance of first trimester screening for chromosomal anomalies using various combinations of ultrasound and maternal serum biochemical modalities. Detection rates in excess of 90% can be routinely achieved for Trisomy 21, Trisomy 13, Trisomy 18 using a combination of fetal nuchal translucency (NT) thickness and maternal ...
Simpson Lynn L - - 2007
OBJECTIVE: To estimate whether nuchal translucency assessment is a useful screening tool for major congenital heart disease (CHD) in the absence of aneuploidy. METHODS: Unselected patients with singleton pregnancies at 10(3/7) to 13(6/7) weeks of gestation were recruited at 15 U.S. centers to undergo nuchal translucency sonography. Screening characteristics of ...
Mavrou A - - 2007
BACKGROUND: Identification of fetal nucleated red blood cells (NRBCs) in maternal circulation can facilitate non-invasive prenatal diagnosis, but technical difficulties still exist. An increase in the number of circulating NRBCs, however, could indicate fetal aneuploidies or pregnancy complications. MATERIALS AND METHODS: The number of NRBCs was determined from 20 mL ...
Breeze Andrew C G - - 2007
OBJECTIVE: To determine the early outcome and the incidence of associated structural anomalies in pregnancies complicated by severe fetal ventriculomegaly (VM). METHODS: A review of cases of severe fetal VM (posterior horn of lateral ventricle > 15 mm at referral or during prenatal follow-up) referred to a fetal medicine centre ...
Forrester Mathias B - - 2007
Using data from a birth defects registry, this study investigated whether pregnancy outcome influences completeness of diagnosis ascertainment for cases with seven selected birth defects. For anencephaly, spina bifida, encephalocele, trisomy 21, trisomy 13, and trisomy 18, the proportion of isolated cases was higher among elective terminations than among live ...
Robinson W P - - 2007
Prenatally diagnosed mosaicism for isochromosome 20q is generally reported in association with a normal outcome at birth and is rarely confirmed postnatally. However, the origin of these abnormal cells is unclear and there are few reports of long-term outcomes. We present an additional case of prenatally detected isochromosome 20q, with ...
Müller M A - - 2007
OBJECTIVE: To assess the performance of nuchal translucency (NT) measurement in the first trimester of pregnancy as a marker for congenital heart defects (CHD) in the fetus in a low-risk obstetric population. METHODS: Nuchal translucency screening was offered over a 3-year period to consecutive pregnant women without known a priori ...
Papp Csaba - - 2007
PURPOSE: To investigate the role of second-trimester sonographic examination in the prenatal diagnosis of trisomy 18. METHODS: Out of 22,150 fetal chromosomal analyses performed between 1990 and 2004, 70 trisomy 18 fetuses were found. The sonographic findings of this aneuploidy were analyzed. RESULTS: The average maternal age was 32.4 years; ...
Gerovassili Ageliki - - 2007
OBJECTIVES: Previous studies on the association of fetal cell-free (cf)DNA levels in maternal circulation have produced conflicting results but the sample sizes were small and based on archived material. We aimed to quantify the levels of fetal and total cfDNA on prospectively collected samples, to understand their correlation with other ...
Gianferrari Elisa A - - 2007
OBJECTIVE: To estimate the accuracy of evaluating nasal bone length, expressed as multiples of the median (MoM), for the detection of Down syndrome in second- trimester fetuses. METHODS: Expected normal median nasal bone measurements were established for an initial cohort of women receiving fetal ultrasound examinations at 15-24 weeks of ...
Panasiuk B - - 2007
PURPOSE: The families experienced by occurrence of child with Wolf-Hirschhorn syndrome (WHS: OMIM # 194190) and by other unfavourable pregnancy outcomes (miscarriages or stillbirths/early deaths and partial trisomy 4p imbalance leading to intellectual disability in live born progeny) are asking for genetic counseling. In order to obtain the recurrence probability ...
Iacovidou Nicoletta - - 2007
OBJECTIVE: To investigate changes in NT-proBNP in intrauterine-growth-restricted (IUGR) and appropriate-for-gestational-age (AGA) pregnancies. METHODS: NT-proBNP levels were measured in 40 mothers (MS), umbilical cords (UC), and their 20 IUGR/ 20 AGA neonates on day 1 (N1) and day 4 (N4). RESULTS: UC, N1, and N4 NT-proBNP was lower in IUGR ...
Papp Csaba - - 2007
We assessed the value of perinatal autopsy following mid-trimester termination of pregnancy due to major fetal trisomies. Singleton fetuses (n=305) that underwent prenatal sonography and karyotyping during the second trimester of pregnancy and that had trisomy 21, trisomy 18, or trisomy 13 constituted the study population. The findings of second ...
Menahem Samuel - - 2007
Fetal echocardiography allows for accurate diagnosis of major heart abnormalities by 16-18 weeks. The parents have up to 22 weeks to consider possible termination. What are the obligations of the clinician once an abnormality is found? Should only information be provided or is there a role in influencing the parents' ...
Graesslin Olivier - - 2007
OBJECTIVE: The aim of this study was to determine the course of pregnancy and the neonatal outcome of fetuses with cystic hygroma diagnosed at 10-14 weeks' gestation. METHODS: Maternal and fetal data (nuchal translucency, karyotype, pregnancy outcome) in cases of fetal cystic hygroma, admitted or referred to our antenatal diagnostic ...
Karaoguz M Y - - 2007
We report a case of prenatally diagnosed mosaic trisomy 20 in cells cultured from amniotic fluid. Trisomy 20 was present in 7 cells (13 percent) in a total of 52 investigated cells. Following the normal findings of an ultrasound scan, the couple decided to continue the pregnancy. A dysmorphic infant ...
Witters I - - 2007
In the early 1990s Nicolaides introduced screening for trisomy 21 by fetal nuchal translucency thickness measurement with ultrasound between 11-13(+6) weeks. Already in 1866 L. Down noted that common features of patients with trisomy 21 are a skin being too large for the body and a flat face with a ...
Szigeti Zsanett - - 2007
OBJECTIVE: The purpose of this study was to compare the prenatal sonographic and postmortem pathologic findings of fetuses with trisomy 21. METHODS: Among 22,150 fetal chromosome analyses, trisomy 21 was diagnosed in 207 fetuses between 1990 and 2004. Findings of second-trimester sonography and fetal autopsy were compared by organ system, ...
Jost Wolfgang H - - 2007
Botulinum neurotoxin type A (BTX-A) weakens voluntary muscle strength and is an effective therapy for focal dystonia, including cervical dystonia (CD) and benign essential blepharospasm (BEB). It is also known to relieve hemifacial spasm and focal spasticity in children and adults. In addition, BTX-A has been shown to be effective ...
Otaigbe B E - - 2007
BACKGROUND: Down syndrome (DS) or Trisomy 21 is the most frequent and best known Trisomy in humans. Mothers under 25 years of age are known to have the average risk of a DS pregnancy of 1:1600, rising to 1:350 at 35 and 1:40 at age 43. Twining in DS occurs ...
Leung T Y - - 2007
OBJECTIVE: To examine the effectiveness of first-trimester fetal trisomy 21 screening using a combination of maternal age, nuchal translucency thickness (NT) and maternal serum free beta-human chorionic gonadotropin (beta-hCG) and pregnancy-associated plasma protein-A (PAPP-A) levels in a predominantly Chinese population in Hong Kong. METHODS: This was a prospective study over ...
Ozgun Mahmut Tuncay - - 2007
We report a prenatal diagnosis of a fetus with partial trisomy 7p. Ultrasonography at 28 weeks of gestation of a 27-year-old multigravid woman revealed a growth-retarded fetus with agenesis of the corpus callosum, enlarged left kidney, single umbilical artery, hypertelorism, depressed nasal bridge, frontal bossing, irregular maxiller alveolar composition, club ...
Baxi Laxmi - - 2007
In the literature, conflicting reports on the significance of false-positive maternal serum multiple marker testing for trisomy 18 are encountered; however, the biology of this finding is discussed infrequently. We present such a case in association with Bloom's syndrome in the fetus. The fetus had intrauterine growth restriction, seen early ...
Zidere V - - 2006
OBJECTIVE: To examine our experience of the detection of a right aortic arch in the fetus over an 8-year period. METHODS: Between February 1998 and December 2005, all patients prospectively diagnosed with a right aortic arch at our center were identified from our database and the videotape reviewed. In addition, ...
Moradkhani Kamran - - 2006
OBJECTIVES: This study was undertaken to discuss the workup of trisomy 16 pregnancies. STUDY DESIGN: This case study reports the prenatal detection and postnatal confirmation of mosaic trisomy 16, associated with uniparental disomy (UPD) 16, in a 34-year-old woman who showed elevated maternal serum alpha-fetoprotein and beta-HCG at a gestational ...
Borenstein M - - 2006
OBJECTIVE: To investigate the incidence of brachycephaly and frontal lobe hypoplasia in fetuses with trisomy 21 at 11 + 0 to 13 + 6 weeks of gestation. METHODS: A three-dimensional (3D) volume of the fetal head was obtained before fetal karyotyping at 11 + 0 to 13 + 6 (median, ...
Sanz-Cortés M - - 2006
Double trisomies are a rare occurrence. We report the first case of a Down and Klinefelter's syndrome (48,XXY,+21) in a fetus that was prenatally diagnosed during the 15th week of pregnancy. Even though the nasal bone was present, and the color-Doppler study of the ductus venosus and the nuchal thickness ...
Dhaifalah Ishraq - - 2006
BACKGROUND: The increase in maternal age in recent years has intensified the effort to develop early non-invasive methods for screening for trisomy 21 and other chromosomal abnormalities in prenatal diagnosis. In the first trimester of pregnancy, maternal age, fetal nuchal translucency (NT), maternal levels of free beta- human chorionic gonadotropin ...
Papp Csaba - - 2007
OBJECTIVE: The objective was to evaluate the contribution of second trimester ultrasound examination to the prenatal diagnosis of trisomy 21 in 207 fetuses with this aneuploidy. The type and frequency of abnormal sonographic findings were determined. Possible multiple malformation patterns, characteristic of trisomy 21 were sought. STUDY DESIGN: Singleton fetuses ...
Bekker Mireille N - - 2006
OBJECTIVE: To study the relationship between the volume of the jugular lymphatic sacs and nuchal translucency thickness in fetuses with increased nuchal translucency with advancing gestation. METHODS: Seventy-four fetuses with a nuchal translucency greater than the 95th percentile were examined weekly between 11 and 17 weeks of gestational age. The ...
Vaknin Zvi - - 2006
OBJECTIVE: To assess the distribution of fetal indications leading to termination of pregnancy (TOP) in our institute. METHODS: All pregnant women with singleton pregnancies who underwent TOP due to fetal abnormalities in our institute between January, 1998 and December, 2004 were divided between early TOP (<23 weeks' gestation) and late ...
Basel-Vanagaite Lina - - 2006
OBJECTIVES: A case of prenatally diagnosed trisomy 11 mosaicism with a normal outcome is reported and the medical literature on prenatal detection of this finding is reviewed. METHODS: Proportion of cells with trisomy 11 was evaluated in amniocytes, fetal blood lymphocytes, newborn fibroblasts and urinary epithelial cells. Karyotype studies and ...
Shaffer Brian L - - 2006
OBJECTIVE: To investigate the rate of pregnancy termination for various fetal aneuploidies, and to evaluate predictors of this choice. METHODS: A retrospective cohort study identified all patients with any of seven common fetal aneuploidies (trisomies 21, 18, and 13; 45,X, 47,XXX, 47,XXY, and 47,XYY) at a referral prenatal diagnosis unit ...
Prefumo F - - 2006
OBJECTIVE: To assess whether extremes in nuchal translucency (NT) thickness measurements at 11-14 weeks of gestation are preceded by departures from normal in early ultrasound biometry or embryonic heart rate in euploid fetuses. METHODS: This was a retrospective analysis of data from women with singleton pregnancies examined in early pregnancy ...
Becker R - - 2006
OBJECTIVE: To assess the diagnostic efficacy of the first-trimester anomaly scan including first-trimester fetal echocardiography as a screening procedure in a 'medium-risk' population. METHODS: In a prospective study, we evaluated 3094 consecutive fetuses with a crown-rump length (CRL) of 45-84 mm and gestational age between 11 + 0 and 13 ...
Falcon O - - 2006
OBJECTIVE: To determine the reproducibility of diagnosing tricuspid regurgitation (TR) at 11 + 0 to 13 + 6 weeks' gestation, to examine further the relationship between TR and the presence of chromosomal defects and to calculate the likelihood ratios for trisomy 21 and trisomy 18 in fetuses with TR. METHODS: ...
Yamanaka Michiko - - 2006
To investigate the pregnancy outcome of fetuses affected with trisomy 18, we analyzed 63 cases diagnosed at our hospital from January 1993 to December 2004. Twenty-nine were males and 34 were females. Fifty-eight were prenatally diagnosed, and in 16 (27.6%) of them intrauterine fetal death (IUFD) occurred between 28 weeks ...
Westin M - - 2006
OBJECTIVE: To determine the performance of nuchal translucency thickness (NT) measurement as a screening method for congenital heart defects (CHD) among fetuses with normal karyotype. METHODS: An NT measurement was made in 16 383 consecutive euploid fetuses derived from an unselected pregnant population. The cut-offs for increased risk of heart ...
Guimarães Filho Hélio Antonio - - 2007
Trisomy of chromosome 18 is the second most common autosomal trisomy, occurring in approximately 1:7,000 live births. Its prenatal diagnosis through abnormal findings in ultrasound with later analysis of fetal karyotype is important for a definition of the prognosis and counseling of the patients. We describe a case of trisomy ...
Cheng Po-Jen - - 2006
OBJECTIVE: The study's aim was to determine any association between choroid plexus cysts (CPCs) and trisomy 18 in a population of fetuses previously screened by nuchal translucency (NT) thickness measurement. METHODS: During the study period (May 1999 to December 2004), 7,795 fetuses had an NT scan and second-trimester fetal anatomical ...
Soto E - - 2006
A patient with a singleton pregnancy was referred for three-dimensional ultrasonography (3DUS) at 18 + 3 weeks for suspected hypomineralization of the skull bones and absence of the nasal bones. Three-dimensional rendered images of the fetal skull revealed widening of the coronal sutures, absence of the squamous portion of the ...
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