Search Results
Results 401 - 450 of 1269
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Papp Csaba - - 2002
The authors describe experiences gained over the period of 1984-1999 at two medical centers with chorionic villus sampling (CVS). Altogether 1,149 CVSs had been performed between the 10th and 32nd gestational weeks. Prior to 1993 the transcervical approach (TC-CVS), after 1994 the transabdominal method (TA-CVS) was used. Analysis of data ...
Blackwell Sean C - - 2002
OBJECTIVE: The purpose of this study was to determine the pregnancy loss rate after genetic amniocentesis that was performed by general obstetrician-gynecologists in a community hospital. STUDY DESIGN: Medical records and billing information were used to identify all genetic amniocenteses that had been performed by a group of general obstetricians-gynecologists ...
Nikkilä A - - 2002
OBJECTIVE: Several studies have shown an increased risk of congenital foot derformities after early amniocentesis. These studies have comprised amniocenteses performed before 13 completed gestational weeks. In this study, the risk of foot deformities after amniocentesis performed at 12-14 completed gestational weeks was determined. METHODS: 3,469 genetic amniocenteses in singleton ...
Bernard Rafaëlle - - 2002
Charcot-Marie-Tooth (CMT) disease is a typical example of a clinically and genetically heterogeneous disorder and, in most cases, is dominantly inherited and caused by a 1.5 megabase duplication on chromosome 17p11.2 containing the PMP22 gene. This is a non-lethal disease with a wide spectrum of severity, from asymptomatism to severe ...
Mahieu-Caputo D - - 2002
Arthrogryposis multiplex congenita (AMC) is a heterogeneous group of disorders in which prolonged decrease or absence of fetal movements results in a series of deformational anomalies. The rate of recurrence ranges from 25% in some recessive forms of myogenic arthrogryposis or of primary anterior horn cell loss, to less than ...
Lee Soo Hyun - - 2002
The early and accurate antenatal diagnosis of fetal musculoskeletal malfomations with a poor outcome has important implications for the management of a pregnancy. Careful ultrasonographic examination of a fetus helps detect such anomalies, and a number of characteristic features may suggest possible differential diagnoses. During the last five years, we ...
Casals Gemma - - 2002
OBJECTIVE: The aim of this study was to assess the effectiveness and safety of chorionic villus sampling (CVS) performed in multiple pregnancies by means of a transcervical biopsy forceps. METHODS: The study included CVS performed from January 1990 to March 2000 in our Unit. The results were analysed in two ...
Saal Howard M - - 2002
OBJECTIVE: Recent reports of prenatal diagnosis of cleft lip and cleft palate resulting in pregnancy termination have raised questions about the appropriateness of such decisions. This review attempts to clarify the importance of nondirective counseling and define the role of the clinician, especially in the face of difficult and often ...
Bauer Martin - - 2002
We report an unusual case of paternity testing from residues of chorionic villi 5 weeks after pregnancy termination. The autopsy of a 32-year-old female homicide victim revealed the presence of intact chorionic villi at the former placenta implantation site. Fetal cells were selectively isolated by laser-induced microdissection of the remaining ...
Kim Yon-Ju - - 2002
Because of the widespread use of amniocentesis, the prenatal recognition of sex chromosome abnormality (SCA) has become increasingly common. Recent literature provided an insight into the understanding of the natural history and prognosis for individuals with SCA. Our study was designed to review the parental decision on pregnancy with SCA. ...
Bitoun E - - 2002
Netherton syndrome (NS) is a severe autosomal recessive ichthyosis with no specific treatment or prenatal diagnosis available at present. The recent identification of SPINK5, which encodes a serine protease inhibitor, as the defective gene enables DNA based prenatal diagnosis to be carried out. Here we report the first direct molecular ...
Cioni Riccardo - - 2002
OBJECTIVES: The aim of the present study was first to evaluate the presence of fetal cells in transcervical cell (TCC) samples collected by intrauterine lavage in the first trimester of pregnancy, and then to compare different methods for the detection of these cells. METHODS: TCC samples were collected by intrauterine ...
Iliyasu Z - - 2002
OBJECTIVE: To assess the impact of improved methods of prenatal diagnosis on the prevalence of Down Syndrome (DS). DESIGN: Registry based epidemiological study. SETTING: Glasgow Register of Congenital Anomalies, Greater Glasgow Health Board, Scotland. SUBJECTS: All registered cases of DS diagnosed at or after birth plus terminations following prenatal diagnosis ...
Chiu Rossa W K - - 2002
Prenatal diagnosis of fetal genetic conditions is a standard part of modern obstetric care. Many of the current methods rely on invasive methods and are associated with an inherent risk of fetal loss. Consequently, there has been a long-term goal for development of noninvasive prenatal diagnostic methods. In 1997, the ...
Lee Soo Hyun - - 2002
A variety of neoplasms can develop in each fetal organ. Most fetal neoplasms can be detected by careful prenatal ultrasonographic examination. Some neoplasms show specific ultrasonographic findings suggesting the differential diagnosis, but others do not. Knowledge of the presence of a neoplasm in the fetus may alter the prenatal management ...
New M I - - 2001
Congenital adrenal hyperplasia (CAH) refers to a family of monogenic inherited disorders of adrenal steroidogenesis most often caused by enzyme 21-hydroxylase deficiency (21-OHD). In the classic forms of CAH (simple virilizing and salt wasting), androgen excess causes external genital ambiguity in newborn females and progressive postnatal virilization in males and ...
Ruangvutilert P - - 2001
The molecular method for prenatal diagnosis in the first trimester was carried out on the second and third pregnancies of a family at risk of congenital adrenal hyperplasia (CAH). The first child, an 8-year-old daughter, was affected. The molecular and cytogenetic prenatal diagnosis on the second pregnancy revealed that the ...
Ariga H - - 2001
BACKGROUND: Fetal genetic material is detectable in the maternal circulation and has been used for noninvasive prenatal diagnosis. However, few data are available concerning its quantity and natural history during gestation. STUDY DESIGN AND METHODS: This study prospectively characterized the kinetics of cellular and cell-free fetal DNA in the circulation ...
Lam R - - 2001
OBJECTIVE: To determine the incidence of aneuploidy among fetuses and infants conceived through intracytoplasmic sperm injection (ICSI) in our clinic using umbilical cord blood samples. DESIGN: Follow-up study of the cytogenetic outcome of ICSI pregnancies. SETTING: University-based IVF clinic. PATIENT(S): Forty-six couples who underwent ICSI and conceived. INTERVENTION(S): Umbilical cord ...
Han S J - - 2001
The history of fetal surgery features an absolute dependency upon the possibility of diagnosis before birth. Powerful new imaging methods, the techniques of sampling amniotic fluid and fetal tissue, and modern molecular genetics for the prenatal diagnosis of various congenital diseases have removed the veil of secrecy from the fetus. ...
Park Y W - - 2001
The last 2 decades have seen considerable advances in obstetric ultrasonography, which now forms part of routine prenatal care in most countries. Congenital anomalies often occur sporadically and unpredictably. The prenatal identification of an abnormal fetus allows the opportunity for prenatal counseling with a multidisciplinary team of experts, and a ...
Berghella V - - 2001
OBJECTIVES: (1) To evaluate the detection and accuracy of fetal echocardiography for congenital heart defects (CHD). (2) To compare the detection and accuracy of a team of maternal fetal medicine specialists and radiologists (MFM/R) with those of perinatal cardiologists (PC). METHODS: All fetal echocardiograms performed from 1/91 to 6/95 were ...
Papantoniou N E - - 2001
OBJECTIVE: To examine the influence of possible risk factors on fetal loss rate following amniocentesis. DESIGN: Retrospective analysis of case records between 1993 and 1998. SETTING: Fetal medicine unit of a large teaching hospital. POPULATION: One thousand and six women with singleton pregnancies formed the study group. Seven hundred and ...
Niers L E - - 2001
NADH:ubiquinone oxidoreductase (complex I of the mitochondrial respiratory chain) deficiency is a severe disorder with an often early fatal outcome. Prenatal diagnosis for complex I defects currently relies mainly on biochemical assays of complex I in fetal tissues such as chorionic villi (CV), and is only in a minority of ...
Goasdoué P - - 2001
We report five patients with pontoneocerebellar hypoplasia. Because the issue of cerebellar malformations is a difficult subject, we tried to define criteria for diagnosis on MRI: a thin flat pons with disappearance of the anterior curve, a small cerebellum with predominant flattening of the hemispheres and shortened cerebellar fissures, in ...
Sharma A - - 2001
Osteogenesis imperfecta (OI) is an inherited disease where basic pathology is of defective maturation of collagen. It is more common in women, and the incidence in pregnancy is 1 in 25,000 to 30,000. A multidisciplinary approach is necessary. Ideally, genetic counseling is sought before conception. Once pregnant, prenatal diagnosis can ...
Fejgin M D - - 2001
Various non-invasive techniques for prenatal diagnosis have been under investigation. We evaluated the success of fetal sexing using a non-invasive technique for obtaining fetal cells, uterine cervix brushing, in combination with FISH. Thirty pregnant women who completed between 6 and 10 weeks of gestation and who were scheduled to undergo ...
Bennett B - - 2001
Recent developments in genetic science will potentially have a significant impact on reproductive decision-making by adding to the list of conditions which can be diagnosed through prenatal diagnosis. This article analyses the jurisdictional variations that exist in Australian abortion laws and examines the extent to which Australian abortion laws specifically ...
Acquila M - - 2001
Although the quality of life for haemophiliacs has clearly improved in the last few years, haemophilia still remains a serious disorder justifying prenatal diagnosis (PD) and, if necessary, termination. Because chorionic villus sampling (CVS) is performed in the first trimester of pregnancy, an increasing number of carriers are interested in ...
Theodoropoulou M - - 2001
OBJECTIVE: Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency (21-OHD) is the most common cause of ambiguous genitalia in females at birth. Here, we report the first prenatal diagnosis of 21-OHD by DNA analysis in Hungary. METHODS: Allele-specific amplification (ASA) of the DNA obtained by chorionic villus sampling was performed. ...
Blessed W B - - 2001
OBJECTIVE: Our purpose was to compare midtrimester amniocentesis-related fetal loss rates between obstetrician-gynecologists and perinatologists. STUDY DESIGN: This cohort study analyzes 1384 midtrimester amniocenteses from January 1, 1996, to December 31, 1999. Obstetrician-gynecologists who split their practices between two or more hospitals and explained fetal losses (eg, fetal anomalies, aneuploidy) ...
Stoll C. - - 2001
Objectives: Birth defects are a major health burden. Primary prevention is at present emerging, i.e. folate supplementation. When it is not possible, as is still the case for most birth defects, research is needed to determine how an optimal provision of prenatal diagnosis and use of services can be achieved. ...
Fukushima A - - 2001
OBJECTIVES: The aim of the present study was to investigate the effectiveness of sorting fetal nucleated red blood cells (FNRBC) from maternal peripheral blood, particularly during early gestation periods, by a combination of specific gravity centrifugation and magnetic cell sorter (MACS). METHODS: Without prior knowledge of the gender of the ...
Holzgreve W - - 2001
The presence of fetal cells and free fetal DNA in maternal blood offers an exciting opportunity for the development of safe noninvasive forms of prenatal diagnosis. Research in this field has, however, also indicated that their levels in the maternal circulation are increased in certain pregnancy-related disorders, such as preeclampsia. ...
Bullen P J - - 2001
OBJECTIVE: This study was undertaken to provide epidemiologic data on the prevalence of holoprosencephaly and to assess the sensitivity of routine ultrasonographic screening in a low-risk population. STUDY DESIGN: A population-based register of congenital abnormalities was used to identify reported cases of holoprosencephaly between 1985 and 1998. Sources included fetal ...
Ralston S J - - 2001
OBJECTIVE: To determine the benefits of antenatal diagnoses of fetal aneuploidy in women who continued their pregnancies. METHODS: A questionnaire was mailed to 51 mothers of children with aneuploidy. Women whose fetuses were diagnosed prenatally comprised the study group and those whose infants were diagnosed at birth were controls. Outcomes ...
Chaabouni H - - 2001
Cytogenetic prenatal diagnosis (PND) is under national health program in most developed countries, while it concerns a small part of population at risk in developing countries. Finance is common reason of absence of PND development, but socio-cultural believes play an important role in Arab Muslim countries. In this paper we ...
Kapur R P - - 2001
This article highlights changes in the field of pediatric pathology that have resulted from technical advances in prenatal diagnostics, immunohistochemistry, cytogenetics, and molecular genetics. The relatively new and growing need for specialized training in fetal pathology is used as an example. Comprehensive evaluation of human fetuses has become a requisite ...
Fiddler M - - 2001
The use of fluorescence in situ hybridization (FISH) for women with multiple gestation pregnancies has been evaluated. Women were referred for chromosome analysis because of advanced maternal age, abnormal ultrasound findings or a positive family history and/or prior to fetal reduction. FISH was successfully applied to all specimens obtained by ...
Azam A Z - - 2001
OBJECTIVE: To assess prospectively the diagnostic reliability and prognostic significance of prenatal diagnosis of cytomegalovirus (CMV) infection. METHODS: One hundred ten pregnant women (four with twin pregnancies) with a risk of congenital CMV infection were investigated. Prenatal diagnosis was carried out by amniocentesis and fetal blood sampling (n = 75) ...
Ibdah J A - - 2001
To evaluate the feasibility of molecular prenatal diagnosis in families with mitochondrial trifunctional protein (TFP) mutations and prospectively study the effects of fetal genotype on pregnancy outcome. TFP catalyzes the last 3 steps in mitochondrial long-chain fatty acid oxidation. We performed molecular prenatal diagnosis in 9 pregnancies, 8 in 6 ...
Brambati B - - 2001
OBJECTIVES: To evaluate the efficacy of and risk associated with chorionic villus sampling for genetic investigations in multiple pregnancies, and to evaluate the accuracy of the ultrasonographic detection of chorionicity during the first trimester. PATIENTS AND METHODS: A total of 198 sets of twins and nine sets of triplets from ...
Erdem H - - 2001
Prenatal diagnosis of childhood proximal spinal muscular atrophy (SMA) is carried out by the detection of homozygous deletions of survival motor neuron (SMN; exons 7 and 8) and neuronal apoptosis inhibitory protein (NAIP; exons 5 and 6) genes located in 5q13 chromosomal region. In Hacettepe University, Department of Medical Biology, ...
Sawa R - - 2001
OBJECTIVE: The purpose of this study was to assess the accuracy, informative rate, detection rate, and clinical utility of prenatal interphase fluorescence in situ hybridization (FISH) analysis of amniotic fluid samples from Japanese women. METHODS: Amniotic fluid specimens from 2,639 Japanese women were received for prenatal interphase FISH and chromosome ...
Kleijer W J - - 2001
Late-infantile neuronal ceroid lipofuscinosis (LINCL) is a progressive neurodegenerative disorder caused by the deficiency of lysosomal tripeptidyl peptidase I (TPP-I) encoded by the CLN2 gene. We report the first case of early prenatal diagnosis of LINCL by combined enzyme and mutation analysis. TPP-I activity in chorionic villi (CV) was less ...
Rahemtullah A - - 2001
Previous studies of umbilical vein varix diagnosed prenatally have been small, and the results have been contradictory. We wanted to determine whether prenatally diagnosed umbilical vein varix is associated with an increased risk of fetal anomalies or poor perinatal outcomes. We identified all cases of fetal intra-abdominal umbilical vein varix ...
Antsaklis A J - - 2001
The broad acceptance of prenatal diagnosis of various genetic diseases leads to an ever-increasing number of parturients with twin gestations undergoing selective feticide of an affected fetus. In most of the cases, delayed diagnosis leads to second trimester reduction. The aim of the present study was to investigate whether this ...
Maymon R - - 2001
Right pulmonary agenesis is a rare congenital malformation which results in secondary dextrocardia in situs solitus. Ipsilateral microtia in this context composes a laterality syndrome. The prenatal sonographic findings of this abnormality have not been previously reported. We describe the association of dextrocardia in situs solitus, intact diaphragm and right ...
Xu H - - 2001
To evaluate the clinical value of three-dimensional ultrasonography (3DUS) in prenatal diagnosis, 134 pregnant women with high-risk factors in second and third trimester were examined by 3DUS. The results showed that 3DUS could provide more diagnostic information, exclude the abnormalities and enhance the confidence level of physician in 102 normal ...
Wells D - - 2001
Preimplantation genetic diagnosis is an alternative to prenatal diagnosis for the detection of genetic disorders. Tests are conducted on single cells biopsied from embryos before they are implanted, allowing the selection of unaffected embryos before a pregnancy has been established. Thus, the issue of pregnancy termination is circumvented. The use ...
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