Search Results
Results 301 - 350 of 1264
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Preis Krzysztof - - 2004
OBJECTIVES: Prenatal diagnosis of fetal disorders is a very wide range of noninvasive and invasive methods. We use ultrasound examination and biochemical tests as screening tools in the low risk pregnancies. In a high risk pregnancy we perform invasive procedures to obtain definitive diagnosis. Amniocentesis is carried out in the ...
Hamamy Hanan A - - 2004
OBJECTIVE: To report parental decisions regarding pregnancy termination following the prenatal diagnosis of a sex chromosome abnormality (SCA) in the fetus. METHODS: Retrospective collection of data from records of 61 families receiving genetic counseling after prenatal diagnosis of a sex chromosome abnormality in the fetus in the Division of Medical ...
Menahem Samuel - - 2004
BACKGROUND: Prenatal diagnosis of a major cardiac abnormality precipitates a crisis in the parents. To their grief and/or anger may be added the burden of whether to continue with the pregnancy if the fetus is previable. AIMS: We reviewed our counselling strategies to determine if the parents were satisfied with ...
Boog Georges - - 2004
This multicentric study presents 6 cases of Wolf-Hirschhorn syndrome (deletion of 4p) detected after a sonographic prenatal diagnosis of early intrauterine growth retardation with fetal abnormalities. Standard karyotyping on regular G-banding during pregnancy was normal in half of the cases. Fortunately, the associated sonographic signs of a typical face, cystic ...
Piercecchi-Marti M D - - 2004
We carried out a retrospective study of 352 medical terminations of pregnancy (MTP) carried out in a large French administrative region over two consecutive years. We analysed the indications for MTP and then compared the prenatal ultrasound diagnosis with fetal autopsy findings in order to demonstrate the value of pathological ...
Seeds John W - - 2004
OBJECTIVE: Genetic mid-trimester amniocentesis is a common invasive procedure. The origin of the commonly quoted 0.5% rate of procedure-related pregnancy loss after amniocentesis is obscure and is in conflict with the only randomized prospective study that reported a procedure-related rate of loss of 1.0%. This review was performed to establish ...
Turhan Nilgün Oztürk - - 2005
AIMS: The purpose of this study is to evaluate the data related to the genetic amniocentesis performed in a single university hospital. METHODS: Medical records were used to analyze indications of amniocentesis, the results of chromosome analysis, complications and pregnancy outcomes from January 1998 through January 2002. Anomaly screening was ...
Leung Tse Ngong - - 2004
OBJECTIVE: To investigate the attitudes towards termination of pregnancy (TOP) among Hong Kong Chinese women attending the prenatal diagnosis counselling (PDC) clinic under three circumstances: (1) normal fetus, (2) fetal chromosomal anomalies, and (3) fetal abnormalities diagnosed after 24 weeks of gestation, and to determine the association between the attitudes ...
Baker Debra - - 2004
PURPOSE: To describe the Hispanic and African-American population referred to our inner city Los Angeles Prenatal Diagnostic Center. To evaluate trends in referral reasons, amniocentesis acceptance, and to assess the number and types of fetal abnormalities found from 1995 to 2001. METHODS: A retrospective study using the data from 3085 ...
Balci Sevim - - 2004
We report a 23-week-old male fetus affected by Meckel-Gruber syndrome. Posterior encephalocele, post-axial polydactyly, and Dandy-Walker malformation were observed on ultrasonographic (USG) examination at 22 weeks' gestation, and lobar holoprosencephaly was demonstrated on postmortem magnetic resonance imaging (MRI) prior to autopsy. After the termination of the pregnancy, polycystic dysplastic kidneys ...
Bianca S - - 2005
INTRODUCTION: Acrania is a rare congenital anomaly in which the flat bones of the cranial vault are partial or complete absent with complete but abnormal development of the cerebral hemispheres. CASE REPORT: We report two cases, diagnosed prenatally by ultrasound and followed by medical pregnancy termination, one with isolated acrania ...
Philip J - - 2004
OBJECTIVE: To assess, in a randomized trial, the safety and accuracy of amniocentesis and transabdominal chorionic villus sampling (CVS) performed at 11-14 weeks of gestation, given that this time frame is increasingly relevant to early trisomy screening. METHODS: We compared amniocentesis with CVS from 77 to 104 days of gestation ...
Weisz Boaz - - 2004
OBJECTIVE: To describe our experience in prenatal diagnosis of hemivertebra. METHODS: This is a case series of patients referred to our tertiary medical center over a 3-year period. All fetuses were scanned by high-resolution real-time scanners. The apparent vertebral anomaly was assessed in a real-time manner by a joint team ...
Hwa Hsiao-Lin - - 2004
BACKGROUND AND PURPOSE: Cell-free fetal DNA in maternal blood is a promising non-invasive alternative for prenatal diagnosis. The goal of this study was to determine fetal sex with maternal plasma in pregnant women without previous male offspring. METHODS: Blood samples (3 mL) were collected at 6 to 16 weeks' gestation ...
Makrydimas G - - 2004
BACKGROUND: Celocentesis is the ultrasound-guided aspiration of fluid from the extra-amniotic cavity at 7-8 weeks of gestation. This paper reports on the clinical application of celocentesis for early prenatal diagnosis. METHODS: Celocentesis was successfully performed in nine pregnancies and 1-2 mL of fluid were obtained after one needle insertion. The ...
Sangalli Michel - - 2004
AIMS: To determine the institutional pregnancy loss rate following second-trimester genetic amniocentesis. METHODS: Data from 293 consecutive women who had routine genetic amniocentesis at Wellington Hospital from 1 January to 31 December 2001 were collected. The primary outcome measure was pregnancy loss rate up to 6-weeks post-procedure. Secondary outcomes were ...
Lazebnik Noam - - 2004
Congenital erythropoietic porphyria (CEP), also termed Günther's disease, is extremely rare and is inherited as an autosomal recessive trait. The mutation that causes the most severe deficiency of the enzyme uroporphyrinogen III synthase (URO-synthase) is C73R. Inheritance of two abnormal alleles results in the accumulation of porphyrins of isomer type ...
Ralston Steven J - - 2004
Ultrasonography has expanded the capabilities of perinatologists to examine,test, and treat the fetus. Amniocentesis and CVS are safe and widely available procedures, which can be used to diagnose a multitude of abnormalities through karyotype analysis and molecular studies. CVS allows earlier diagnosis, but both procedures can provide highly accurate results ...
Tóth-Pál Erno - - 2004
OBJECTIVES: Second-trimester genetic amniocentesis is the most frequently used invasive prenatal diagnostic technique. Several reports have been published about the effect of genetic amniocentesis on fetal loss in multiple pregnancies over the past two decades. Here we analyze our experience with genetic amniocentesis in multiple pregnancies over the past 10 ...
Elchalal Uriel - - 2004
We present 2 cases of maternal mortality after transabdominal amniocentesis performed during the 2nd trimester of pregnancy. In both these cases, blood cultures revealed Escherichia coli. Broad-spectrum intravenous antibiotic treatment started immediately after admission to the hospital did not change the rapid progression of the disease. Despite evacuation of the ...
Holder-Espinasse Muriel - - 2004
This is a 3-year retrospective study of 107 cases presenting with limb anomalies detected either on prenatal ultrasound scan, or after birth. These limb malformations are developmental anomalies, and can be isolated, syndromic, or associated with multiple malformations. Cases were ascertained through the prenatal diagnosis center, the pediatrics department, and ...
Muschke Petra - - 2004
OBJECTIVE: We report on the retrospective diagnosis of Nijmegen breakage syndrome (NBS) confirmed by molecular genetic analysis and consecutive prenatal diagnosis in the same family. METHOD: Thirteen years after the death of their daughter due to fatal recurrent infections, a couple presented in our genetic counselling unit asking for the ...
Bergé Stefaan J - - 2004
We present three cases of cervical teratoma, two of which were detected prenatally by ultrasound. The two cases diagnosed prenatally showed rapid early growth, which indicated the aggressive nature of the tumour and assisted the parents' decision to terminate the pregnancy. The third case was undiagnosed prenatally and the child ...
Rechitsky S - - 2004
Early-onset primary torsion dystonia (DYT1) is the most severe and common form of hereditary movement disorders, characterized by sustained twisting contractures that begin in childhood, which is caused in majority of cases by a 3-bp deletion of the DYT1 gene on chromosome 9q34 at the heterozygote state. As there is ...
Chen C P - - 2004
Discrepancy between the fetus and extra-embryonic tissues in prenatally detected mosaic distal 5p deletion: We present clinical and cytogenetic data on a second-trimester fetus with mosaic del(5)(p15.1) and the extra-embryonic tissues with a normal karyotype. A 34-year-old woman, gravida 2, para 0, underwent genetic amniocentesis at 20 weeks' gestation because ...
Moutard Marie-Laure - - 2004
Fetal ultrasound (FU) is used during almost all pregnancies and makes a large contribution to the identification of fetal malformation. It is particularly difficult to announce a malformation, particularly those affecting the brain, because there are often doubts concerning both the diagnosis and the prognosis. AIM: The aim of this ...
Schluth C - - 2004
Prenatal diagnosis of a true fetal tetraploidy in direct and cultured chorionic villi: Tetraploidy is characterized by four complete sets of chromosomes (4n= 92). Although it has been frequently reported in spontaneous abortions, tetraploidy is extremely rare in term pregnancy. Most of late surviving patients are diploid/tetraploid mosaics and present ...
Geipel A - - 2004
The uptake of prenatal diagnosis in 436 singleton and 146 twin pregnancies following assisted reproduction was compared with a matched group of spontaneous conceptions. The first and second trimester ultrasound examination included target fetal anatomic evaluation and screening by specific markers described for fetal aneuploidy. Women with assisted conception attended ...
Xu Kangpu - - 2004
PURPOSE: To develop an accurate mutation analysis procedure for retinoblastoma gene (RB1) mutation, which is sensitive at the single-cell level, and to use in vitro fertilization (IVF) and preimplantation genetic diagnosis (PGD) to achieve pregnancies without retinoblastoma. DESIGN: Case report. METHODS: Twelve day 3 embryos, obtained by IVF with intracytoplasmic ...
Chen Chih-Ping - - 2004
OBJECTIVES: To present the prenatal diagnosis of premature centromere division (PCD)-related mosaic variegated aneuploidy (MVA) and a review of the literature. CASE AND METHODS: A 33-year-old primigravida woman underwent amniocentesis at 22 weeks' gestation because of intrauterine growth restriction (IUGR), microcephaly, and oligohydramnios. Amniocentesis revealed PCD-related MVA. Repeat amniocentesis two ...
Rijnders R J P - - 2003
OBJECTIVES: To evaluate at what gestational age fetal DNA can reliably be detected at the earliest in maternal plasma. METHODS: We performed consecutive blood sampling in the first trimester of pregnancy in 17 women who were pregnant after in vitro fertilization (IVF) or intrauterine insemination (IUI). DNA was isolated and ...
O'Leary J - - 2004
This article suggests there is a need to reframe the phenomenon of unresolved grief in parents who are in a subsequent pregnancy after a previous loss using a prenatal attachment model. An argument is made for helping parents give meaning to their parenting role for the baby who has died ...
Skidmore David L - - 2003
Two de novo cases with Apert Syndrome detected prenatally are presented herein. In the first, fetal ultrasound findings of syndactyly of the hands, craniosynostosis and proptosis resulted in a prenatal diagnosis in the nineteenth week of gestation. This is the earliest prenatal diagnosis of this syndrome in a not-at-risk case. ...
Mittermayer C - - 2003
Lymphangiomas are benign tumours of the lymphatic system. Early prenatal diagnosis is important to permit a planned delivery and provide adequate postnatal care. It thereby improves prognosis and allows the option of terminating the pregnancy if poor outcome is predicted. We report two cases, a giant haemangiolymphoma and a lymphangioma. ...
Volpe P - - 2003
To assess the accuracy of prenatal diagnosis, the incidence of extracardiac and chromosomal anomalies, and the perinatal outcome in a population of fetuses with common arterial trunk (CAT). Observational study of 23 fetuses from three referral centres with a confirmed diagnosis of CAT. All underwent fetal echocardiography, detailed anatomical scanning, ...
Samli Hale - - 2003
OBJECTIVES: The objective of this study was to determine the incidence of chromosomal anomalies in a complete cohort of ICSI pregnancies. METHODS: From January 1996 to December 2000, 1500 consecutive patients who had become pregnant after Intracytoplasmic Sperm Injection (ICSI) were given prenatal genetic counseling and 98 of them (6.5%) ...
Antsaklis A - - 2003
OBJECTIVE: To evaluate the role of fetal blood sampling for prenatal diagnosis in twin pregnancies. METHODS: This was a retrospective study of 84 twin pregnancies that had undergone fetal blood sampling between the years 1977 and 2000. These results were compared with those from a similar study on amniocentesis and ...
Jackson Laird - - 2003
Although fetal cells have been known to escape to the maternal circulation for a number of years, research attempts to use them for prenatal diagnosis have not had any consistent success. This review attempts to trace the history of such attempts and to document their progress and reasons for success ...
Ho S S - - 2003
In Singapore, 1 in 5 pregnancies occur in mothers > 35 years old and genetic diseases, such as thalassaemia, are common. Current methods for the diagnosis of aneuploidy and monogenic disorders require invasive testing by amniocentesis, chorion villus biopsy or fetal blood sampling. These tests carry a procedure-related risk of ...
Gardner James L - - 2003
4-hydroxynonenal (4HNE) is a highly mutagenic and cytotoxic alpha,beta-unsaturated aldehyde that can be produced in utero during transplacental exposure to prooxidant compounds. Cellular protection against 4HNE injury is provided by alcohol dehydrogenases (ADH), aldehyde reductases (ALRD), aldehyde dehydrogenases (ALDH), and glutathione S-transferases (GST). In the present study, we examined the ...
Schweiger Susann - - 2003
We report on a fetus of 27 weeks of gestation whose clinical, radiological, and histopathological findings are compatible with the prenatal form of Caffey disease (cortical hyperostosis). Prenatal ultrasound examination showed polyhydramnios and markedly short and angulated long bones, which had led to the incorrect diagnosis of lethal osteogenesis imperfecta. ...
Uitto Jouni - - 2003
Progress in our understanding of the molecular basis of heritable diseases, through identification of specific mutations, has provided a foundation for the development of DNA-based prenatal diagnosis. Genetic analysis of fetal DNA is now routinely performed from chorionic villus samples obtained as early as the tenth week of gestation or ...
Cirigliano Vincenzo - - 2003
OBJECTIVE: To investigate amniotic fluid (AF) samples retrieved in multiple pregnancies by single insertion of the needle, for rapid assessment of chromosome copy number, zygosity, and cross-contamination between fetuses, using Quantitative Fluorescent Polymerase Chain Reaction (QF-PCR) amplification of highly polymorphic microsatellite markers. METHODS: Fifty-two multiple pregnancies were selected (47 twins, ...
d'Ercole Claude - - 2003
INTRODUCTION: Fetal invasive procedures provide ovular samples that are helpful in establishing diagnosis, etiology, and prognosis when ultrasonography and MRI show a central nervous system (CNS) anomaly or when the fetus is at high risk of such pathology. PROCEDURES: Invasive procedure techniques are amniocentesis, fetal blood sampling (FBS), and chorionic ...
Hogge W Allen - - 2003
OBJECTIVE: The objective of this study was to assess the clinical use of routinely karyotyping spontaneous abortion material. STUDY DESIGN: We retrospectively reviewed the records of the Pittsburgh Cytogenetics Laboratory from January 1, 1998, to December 31, 2001, for all tissues from spontaneous losses at 20 weeks' gestation or less ...
Centini G - - 2003
OBJECTIVE: To report in singleton pregnancies the post-procedure safety and maternal complications of early amniocenteses performed between 13 + 0 and 14 + 6 weeks of gestation and mid-trimester amniocenteses performed between 15 + 0 and 18 + 6 weeks of gestation. METHODS: The study was carried out at the ...
Menahem Samuel - - 2003
BACKGROUND AND AIMS: The fetal diagnosis of complex congenital heart disease (CHD) leads to a crisis for the affected couple. How much more so when a decision is made to terminate the pregnancy? In making that decision do the parents understand the anomaly, its consequences and possible outcome and does ...
Schmider Annette - - 2003
OBJECTIVE: To examine the prenatal course and outcomes of neonates with isolated fetal ascites. METHODS: A retrospective analysis (from 1990 through 2000) was performed on 26 consecutive cases presenting with fetal ascites. A systematic diagnostic protocol which included fetal blood sampling for karyotyping, serology and serial ultrasound examinations to determine ...
Philip Nicole - - 2003
Cerebral malformations can be genetically determined and/or part of complex syndromes. When the defect is detected during pregnancy, it important to rule out an associated genetic condition. Family history and detailed examination of fetal anatomy are needed. Intrauterine growth retardation, as well as limb abnormalities (especially polydactyly) are strong indicators ...
Nanal Rashmi - - 2003
OBJECTIVE: Pregnancy loss rates after prenatal invasive procedures such as amniocentesis (Amnio), chorionic villous sampling (CVS) and fetal blood sampling (FBS) vary with an underlying indication for the procedure and due to different background risk of miscarriage. Loss rates need to be quantified and available for counselling. We developed a ...
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