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Results 451 - 500 of 906
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Gillen-Goldstein Jonathan - - 2002
OBJECTIVE: By determining the early patterns of steroidogenesis in the most common aneuploidies, we have shown that there are differences between aneuploid and euploid pregnancy steroidogenesis patterns. We hypothesize that there are differences in steroidogenesis between specific trisomies, as well. METHODS: The records of all patients with a cytogenetic diagnosis ...
Madazli Riza - - 2002
Arthrogryposis multiplex congenita is a general term for congenital multiple joint contractures, the aetiology of which is variable. Prenatal diagnosis is usually based on the detection of diminished fetal movements and joint contractures on ultrasound. There are also reports of early diagnosis of arthrogryposis in the first and early second ...
Denier Colette C - - 2002
In humans, there are four alkaline phosphatases, and each form exhibits a characteristic pattern of tissue distribution. The availability of an easy method to reveal their activity has resulted in large amount of data reporting correlations between variations in activity and illnesses. For example, alkaline phosphatase from neutrophils of mothers ...
Brizot M L - - 2001
OBJECTIVES: To examine the detection rate of chromosomal abnormalities using nuchal translucency (NT) thickness in a Brazilian population. METHODS: This was a prospective study of 2996 singleton pregnancies with a live fetus at 10-14 weeks of gestation attending for routine antenatal care in a teaching hospital in Brazil. Fetal crown-rump ...
Zoppi M A - - 2001
OBJECTIVE: To examine the distribution of fetal nuchal translucency thickness in normal and chromosomally abnormal fetuses in Sardinia and to determine the effectiveness of screening by a combination of fetal nuchal translucency and maternal age. METHODS: Fetal nuchal translucency thickness and crown-rump length were measured at 10-14 weeks of gestation ...
Fritz B - - 2001
Approximately 15-20% of all clinically recognised pregnancies abort, most commonly between 8-12 gestational weeks. While the majority of early pregnancy losses is attributed to cytogenetic abnormalities, the aetiology of approximately 40% of early abortions remains unclear. To determine additional factors causing spontaneous abortions we retrospectively searched for uniparental disomies (UPD) ...
Salomon L J - - 2001
OBJECTIVES: To examine the relationship between the measurement of nuchal translucency in the first trimester and nuchal fold in the second trimester in normal pregnancy. METHODS: This was a prospective study of 592 singleton pregnancies. Fetal nuchal translucency was measured at 11-14 weeks of gestation and nuchal fold at 20-24 ...
Tanriverdi H A - - 2001
The objective of this study is to analyze the prenatal management and prognostic factors of hygroma colli cysticum by using cytogenetic tests and sonographic morphological features. All cases with hygroma colli cysticum diagnosed and managed at our Prenatal Diagnostics Unit between January 96 and September 2000 were analyzed. Sonographic morphological ...
Bindra R - - 2001
OBJECTIVE: To determine whether the major chromosomal abnormalities are associated with impaired placentation in the first trimester of pregnancy. METHODS: This was a prospective study of 692 singleton pregnancies undergoing fetal karyotyping at 11-14 weeks of gestation. Uterine artery Doppler was carried out and the mean pulsatility index was calculated ...
Gasiorek-Wiens A - - 2001
OBJECTIVE: To examine the effectiveness of screening for trisomy 21 by a combination of maternal age and fetal nuchal translucency thickness at 10-14 weeks of gestation in Germany, Austria and Switzerland. METHODS: This was a multicenter study of screening for trisomy 21 by a combination of maternal age and fetal ...
van Haelst M M - - 2001
We report on ten pregnancies with trisomy 8 mosaicism. Nine cases were prenatally detected in chorionic villi (n=6), amniotic fluid (AF) cells (n=2) or fetal blood (FB) lymphocytes (n=1). Follow-up laboratory investigations showed confined placental mosaicism (CPM) or pseudomosaicism in eight cases. In one case with ultrasound abnormalities, trisomy 8 ...
Ghi T - - 2001
OBJECTIVE: To examine the association between increased nuchal translucency thickness and major cardiac defects in chromosomally normal fetuses. SETTING: Tertiary referral unit for fetal medicine and fetal cardiology. METHODS: During a 4-year period (January 1997 to January 2001), detailed echocardiography was performed in 1319 chromosomally normal fetuses with increased nuchal ...
Wayda K - - 2001
BACKGROUND: A prospective screening study was carried out at the regional genetic and perinatal center in South Hungary in order to determine the efficiency of first-trimester nuchal translucency screening for fetal aneuploidies, following augmentation of the availability of nuchal translucency screening in the region by the inclusion of newly-trained hospital ...
Cicero S - - 2001
BACKGROUND: Prenatal diagnosis of trisomy 21 requires an invasive test in women regarded as being at high risk after screening. At present there are four screening tests, and for a 5% false-positive rate, the sensitivities are about 30% for maternal age alone, 60-70% for maternal age and second-trimester maternal serum ...
Mangione R - - 2001
OBJECTIVE: One of the concerns of prenatal diagnosis is to find sensitive markers to screen for chromosome abnormalities, such as serum assays or nuchal translucency (NT). This study reports our experience with NT measurement during the first trimester of pregnancy. MATERIALS: The study was performed prospectively on 252 fetuses with ...
Dommergues M - - 2001
OBJECTIVE: To evaluate a policy of selective rather than routine use of amniocentesis for advanced maternal age. METHOD: A consecutive series of 359 pregnant women aged 38-47 underwent nuchal translucency measurement (NTM) at 10-14 weeks, maternal serum screening (MSS) by alpha-fetoprotein (AFP) and human chorionic gonadotropin (hCG) at 15-17 weeks, ...
Chung J L - - 2001
"13q-"syndrome is known to have widely variable manifestations, including retinoblastoma, mental & growth retardation, malformation of brain & heart, anal atresia, and anomalies of the face and limbs. Here we report a case of del(13)(q22) with multiple major congenital anomalies for the first time in Korea. The patient was born ...
Salafsky I S - - 2001
Maternal uniparental disomy (UPD) 20 was found in a 35-month-old girl, the product of a pregnancy complicated by a prenatal diagnosis of mosaic trisomy 20. Phenotypic abnormalities included pre- and postnatal growth failure, microcephaly, minor dysmorphic features and psychomotor developmental delay. Chromosomal analysis on cord blood revealed only a normal ...
Nyberg D A - - 2001
OBJECTIVE: To determine whether sonographic "markers" are associated with fetal Down syndrome during the second trimester and to estimate the degree of risk of individual markers using likelihood ratios. METHODS: Second-trimester (14-20 weeks) sonographic findings in 186 fetuses with trisomy 21 were compared with a control group of 8728 consecutive ...
Spencer K - - 2001
Placenta growth factor (PIGF), an angiogenic factor belonging to the vascular endothelial growth factor family, pregnancy-associated plasma protein A (PAPP-A) and free beta-human chorionic gonadotrophin (beta-hCG) were measured in maternal serum from 45 pregnancies with trisomy 21, 45 with trisomy 18 and 493 normal controls at 10-13 completed weeks of ...
Sepulveda W - - 2001
In order to determine the significance of nuchal translucency thickness on the subsequent natural history of first-trimester fetuses with a chromosome translocation, seven consecutive cases diagnosed between 11 and 13 weeks of gestation were reviewed. Nuchal translucency measurements were successfully obtained before chorionic villus sampling (CVS) in all cases. Three ...
Maymon R - - 2001
BACKGROUND: Nuchal translucency (NT) measurement for Down's syndrome screening or detecting various fetal anomalies is a reliable sonographic marker. This study evaluates the contribution of NT screening in spontaneously conceived and assisted conception twin pregnancies. METHODS AND RESULTS: Maternal age at measurement, chorionicity, ultrasound features, karyotype results and pregnancy outcome ...
Thoresen M - - 2001
Three to 12 h of mild hypothermia (HT) starting after hypoxia-ischemia is neuroprotective in piglets that are anesthetized during HT. Newborn infants suffering from neonatal encephalopathy often ventilate spontaneously and are not necessarily sedated. We aimed to test whether mild posthypoxic HT lasting 24 h was neuroprotective if the animals ...
Towner D - - 2001
We present the prenatal ultrasound findings in a case of postnatally identified paternal uniparental isodisomy 14q12-qter. Increased nuchal translucency and a large omphalocele were identified at 14 weeks' gestation. Karyotyping revealed a normal male, 46,XY. As gestation advanced, polyhydramnios developed, skeletal abnormalities involving the long bones and chest became evident, ...
Lam Y H - - 2001
Recent data have suggested that fetal nuchal translucency (NT) is affected by fetal gender. We investigated the size of this effect in 12 189 unselected pregnancies with known normal outcomes that had undergone NT measurements between 10 and 14 weeks of gestation. NT increased with gestation and was converted to ...
Brizot M L - - 2001
We report on the ultrasound features and natural history of trisomy 10. At 12 weeks' gestation in a routine scan examination, the fetus presented with increased nuchal translucency thickness, mild skin oedema, bilateral pleural effusion, marked micrognathia, cardiomegaly, unilateral talipes and reversed A-wave in the ductus venosus blood flow. Karyotyping ...
Hollis B - - 2001
OBJECTIVE: To determine the value of performing routine fluorescent in situ hybridization (FISH) for microdeletions of chromosome 22q11 when karyotyping fetuses with increased nuchal translucency. DESIGN: This was a prospective observational study carried out over an 18-month period. Fetal karyotyping by chorionic villus sampling was offered to 5429 women attending ...
Souka A P - - 2001
OBJECTIVES: To study the outcome of chromosomally normal pregnancies with increased nuchal translucency at the 10-14-week scan. DESIGN: Retrospective study of 1320 chromosomally normal singleton pregnancies with nuchal translucency of > or = 3.5 mm. In addition to fetal karyotyping these patients were managed with follow-up scans at 14-16 and ...
Wallace E M - - 2001
OBJECTIVE: To explore whether abnormalities in growth hormone binding protein (GHBP) may underlie the growth restriction associated with fetal aneuploidy. DESIGN: A retrospective casecontrol study. SETTING: Monash Medical Centre. Clayton, Victoria, Australia. POPULATION: Twenty-one trisomy 18, and 30 trisomy 21 pregnancies, and 170 chromosomally normal pregnancies at 15-18 weeks of ...
Ryall R G - - 2001
Of the 65 328 pregnancies of South Australian mothers screened by the South Australian Maternal Serum Antenatal Screening (SAMSAS) Programme between 1 January 1991 and 31 December 1997, 3431 (5.25%) were declared at increased risk of fetal Down syndrome. Fetal or neonatal karyotype was determined in 2737/3431 (79.8%) of these ...
Phelan M C - - 2001
Mosaicism for trisomy 13 and triploidy was detected by amniocentesis performed at 18 weeks' gestation because of fetal anomalies. Pregnancy continued and a live-born male was delivered vaginally at 37 weeks. The infant had features common to both trisomy 13 and triploidy: intrauterine growth retardation (IUGR), small abnormal ears, cleft ...
Spencer K - - 2001
Dimeric inhibin A was measured in maternal serum samples from 45 pregnancies affected by trisomy 21 and 493 samples from unaffected pregnancies at 10-14 weeks of gestation. Inhibin A levels in affected pregnancies were compared with levels of free beta-hCG and PAPP-A in the same series. In the trisomy 21 ...
Snijders R - - 2001
There has been an increase in the use of fetal ultrasound in the first trimester. This article reviews the published literature with emphasis on fetal nuchal translucency (NT). When measured according to well-defined guidelines, increased NT identifies about 80% of chromosomal anomalies for a false-positive rate of about 5%. Increased ...
Mokhtar M M - - 2001
We evaluated the hypothesis that the trisomy 21 genome interacts with environmental factors during early pregnancy to increase the risk for birth anomalies in Down syndrome infants in Alexandria, Egypt. A case-control study on 514 infants with confirmed Down syndrome was carried out from 1 July 1995 to 30 June ...
Maymon R - - 2001
The aim of the present study was to assess the sonographic contour of the increased nuchal translucency (NT) and to correlate this with pregnancy outcome. Fifty sonographic images of fetuses with increased NT [> 95th centile thickness of the normal range for crown-rump length (CRL) between 38 and 84 mm] ...
Smrcek J M - - 2001
OBJECTIVE: To demonstrate the relationship between fetal hydrops and/or hepatosplenomegaly in the second half of pregnancy with a myeloproliferative disorder in fetuses with trisomy 21 or mosaic trisomy 21. DESIGN: A retrospective case series. SUBJECTS: Cases were selected from 79 cases of trisomy 21 diagnosed in our prenatal unit between ...
Quack K C - - 2001
As part of our continuing programme to investigate immunological causes of unexplained recurrent pregnancy losses, we studied subpopulations of white blood cells and their activation status in decidua of women with a history of recurrent spontaneous abortion (RSA). We differentiated specifically between normal karyotyped male fetuses and abnormal karyotyped fetuses ...
Towner D R - - 2001
A case of confined placental mosaicism (CPM) and maternal uniparental isodisomy 14 identified after placental karyotype revealed trisomy 14 in a newborn with intrauterine growth restriction (IUGR) and minor dysmorphic features is reported. During the second trimester of the pregnancy, multiple marker screening revealed an increased risk for Down syndrome ...
Chen C P - - 2001
A prenatal diagnosis of partial monosomy 18p(18p11.2-->pter) and trisomy 21q(21q22.3-->qter) in a fetus with alobar holoprosencephaly (HPE) and premaxillary agenesis (PMA) but without the classical Down syndrome phenotype is reported. A 27-year-old primigravida woman was referred for genetic counselling at 21 weeks' gestation due to sonographic findings of craniofacial abnormalities. ...
Bilardo C M - - 2001
OBJECTIVE: To investigate, in a high-risk group of fetuses, the role of ductus venosus Doppler velocimetry as a prognostic factor, in addition to nuchal translucency measurement, for predicting chromosomal anomalies and, where the karyotype was normal, for predicting fetal outcome. METHODS: Nuchal translucency was measured and ductus venosus pulsatility index ...
Spencer K - - 2001
Maternal serum total activin-A concentration was measured in 45 pregnancies affected by trisomy 21 and 493 control unaffected pregnancies at 10-14 weeks of gestation. In the trisomy 21 pregnancies total activin-A concentration was significantly higher (1.36 MoM of the unaffected pregnancies) and in 16% of cases the level was above ...
Masturzo B - - 2001
We present two cases of pregnant women with a previous history of congenital adrenal hyperplasia. In both cases the only abnormal feature in the initial pregnancy had been increased nuchal translucency at 10-14 weeks of gestation. The fetal karyotype was normal and a diagnosis of congenital adrenal hyperplasia was made ...
Johnson J M - - 2001
We report the prenatal detection of increased nuchal translucency and decreased fetal movements, at 11 weeks of gestation, in a fetus at risk for Zellweger syndrome. The diagnosis of Zellweger syndrome was confirmed by metabolic studies on cultured chorionic villus sampling (CVS) cells and the pregnancy was terminated. The couple's ...
Hassold T - - 2001
Aneuploidy (trisomy or monosomy) is the most commonly identified chromosome abnormality in humans, occurring in at least 5% of all clinically recognized pregnancies. Most aneuploid conceptuses perish in utero, which makes this the leading genetic cause of pregnancy loss. However, some aneuploid fetuses survive to term and, as a class, ...
Rajcan-Separovic E - - 2001
We report on a female carrier of der(15) t(Y;15)(q12;p13) who had two pregnancy losses with trisomy 15 and one with tetraploidy. Molecular analysis showed that both non-disjunction events resulting in the trisomy 15 pregnancies occurred in maternal meiosis I. This finding raises the possibility that there may be an increased ...
Schuring-Blom G H - - 2001
Viable trisomy 13 or 18 pregnancies may be supported by the presence of a diploid cell line, confined to the outer layer of the placenta (cytotrophoblast). To establish the presence of diploid cells we investigated five random biopsies from placentas of trisomy 13 (n = 8) and trisomy 18 cases ...
Chudleigh P M - - 2001
INTRODUCTION: Mild pyelectasis is a common finding and there is some debate as to its association with aneuploidy. The results of a large, prospective, multicenter study of mild pyelectasis designed to determine the incidence and association with aneuploidy in an unselected population are reported. METHODS: A large multicenter, prospective observational ...
Miller R - - 2001
Constitutional mosaic trisomy 8 has been associated with syndromic dysmorphology, corneal opacities, leukemias, and trophoblastic disease. However, abnormal maternal serum alpha-fetoprotein (MSAFP) has not been reported in association with mosaic trisomy 8. Our case first presented for evaluation of an extremely elevated MSAFP with mild elevation of MShCG in an ...
Mavrides E - - 2001
OBJECTIVE: To evaluate the effectiveness of nuchal translucency (NT) measurement in screening for major congenital heart disease (CHD) in chromosomally normal fetuses. DESIGN: A population based cohort study of all women having fetal NT measurement at 10-14 weeks of gestation in an unselected population over a 3-year period. The outcome ...
Tongsong T - - 2001
OBJECTIVE: To describe the sonographic characteristics of fetuses with trisomy 21. DESIGN: A prospective descriptive analysis. SETTING: Department of Obstetrics and Gynecology, Faculty of Medicine, Maharaj Nakorn Chiang Mai Hospital, Chiang Mai University. SUBJECTS: Pregnancies at risk of trisomy 21 between 14-27 weeks' gestation. RESULTS: Thirty-six fetuses with subsequently proven ...
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