Search Results
Results 351 - 400 of 1263
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Bartha J L - - 2003
BACKGROUND: 21-hydroxylase deficiency can lead to masculinization of female fetuses. Corticosteroid therapy may reduce these effects. When the fetus is male, this approach means that unnecessary treatment, with theoretic side effects, is given until the result of chorionic villus sampling (CVS), a procedure with known risks, is available. CASE: A ...
Kabra Madhulika - - 2003
Spinal Muscular atrophy (SMA) Type I is a fatal autosomal recessive disease caused by homozygous deletion of telometric region of exon 7/8 of the SMN gene. Prenatal diagnosis is feasible and desirable by most families. We report on prenatal diagnosis of SMAI in a family where dried umbilical cord stump ...
Brun Jean-Luc - - 2003
OBJECTIVES: To evaluate the feasibility, accuracy and safety of chorionic villus sampling (CVS). METHODS: Ten thousand seven hundred and forty one singleton pregnancies at risk of chromosome abnormalities (96.3%) and gene disorders (2.8%) were referred from 1990 to 1999 to the fetal medicine unit of a teaching hospital. CVS was ...
Haugen Guttorm - - 2003
OBJECTIVE: To assess the influence of transplacental versus nontransplacental needle passage during genetic amniocentesis on umbilical artery (UA) pulsatility index (PI) and fetal heart rate (FHR). METHODS: Genetic amniocentesis was performed in 205 women with no major fetal malformations detected by prenatal ultrasound at a median gestational age of 14 ...
Aalfs Cora M - - 2003
BACKGROUND: In many countries, GPs play a key role in the referral to other medical specialists. Referral for reproductive genetic counselling during a pregnancy of women with a genetic risk factor already present before pregnancy has many disadvantages. Nevertheless, some 10-20% of the counsellees who attend a Department of Clinical ...
Benachi Alexandra - - 2003
Fetal DNA and cells present in maternal blood have previously been used for non-invasive prenatal diagnosis. However, some fetal cells can persist in maternal blood after a previous pregnancy. Fetal rhesus status and sex determination have been performed by using amplification by real-time polymerase chain reaction (PCR) of fetal DNA ...
Hromadnikova Ilona - - 2003
BACKGROUND: We determined fetal sex in pregnancies referred for invasive prenatal diagnosis procedures by analysis of DNA in maternal plasma. METHODS: Twelve pregnancies at risk of X-linked haemophilia and 32 pregnancies at risk of chromosomal aneuploidies at a gestational age ranging from 10 to 18 weeks recruited before chorionic villus ...
de Crespigny Lachlan - - 2003
The best interests of our patients are served by using language that both supports patient autonomy and is neutral. While it remains a "tentative" pregnancy (ie, before the completion of normal prenatal tests), the term "fetus" should be used. After normal prenatal testing, only in rare situations will the pregnant ...
Chiu Rossa W K - - 2003
The launch of the genomics and postgenomics era has greatly expanded our understanding of the genetic basis of many diseases. In conjunction with the sociocultural trend to delay childbirth and to maintain smaller family units, extra demand may be placed on the existing prenatal diagnostic services. The inherent risk of ...
Cioni Riccardo - - 2003
OBJECTIVES: The aim of this study was to first evaluate the presence of fetal cells in cervical mucus samples collected in the first trimester of pregnancy and then to compare different laboratory methods for the detection of these cells. METHODS: Mucus samples were collected by using a cytobrush before termination ...
Kolibianakis Efstratios - - 2003
OBJECTIVE: To compare pregnancy outcome after prenatal genetic testing by chorionic villus sampling (CVS) or amniocentesis in singleton pregnancies achieved by intracytoplasmic sperm injection (ICSI). DESIGN: Retrospective analysis. SETTING: Tertiary referral center. PATIENT(S): Eight hundred twenty-eight patients with singleton gestations achieved by ICSI. INTERVENTION(S): Midtrimester amniocentesis (685 patients) and first-trimester ...
Al-Mufti Raghad - - 2003
OBJECTIVE: To investigate whether chorionic villus sampling (CVS) is associated with an increase in fetomaternal cell trafficking. DESIGN: Prospective study. SETTING: King's College London School of Medicine, King's College Hospital. SAMPLE: Eighteen singleton pregnancies undergoing CVS for fetal karyotyping at 11-14 weeks of gestation and subsequently found to have chromosomal ...
Hewson S - - 2003
Arginase deficiency is a rare, autosomal recessive, disorder of the urea cycle characterized by mild hyperammonaemia, hyperargininaemia, dibasic aminoaciduria and orotic aciduria, associated with progressive spastic tetraplegia, seizures, psychomotor retardation, and growth failure. We report a family who presented with their daughter at 4 years 11 months of age with ...
Costa C - - 2003
Carnitine-acylcarnitine translocase (CAC) deficiency is a rare autosomal recessive disorder of long-chain fatty acid oxidation with a severe outcome. We report mutation analysis in a cohort of 12 patients. Twelve mutations were identified of which 9 have not been reported so far (G28C, D32N, R178Q, P230R, D231H, 179delG, 802delG, 69-70insTGTGC, ...
van der Schoot C Ellen - - 2003
Knowledge of the molecular basis of the blood group systems has enabled the development of assays for blood group genotyping. At this time, polymerase chain reaction (PCR)-based assays validated on fetal material obtained by invasive means (chorionic villus sampling or amniocentesis) are available for all clinically relevant fetal blood groups, ...
Alfirevic Z - - 2003
A major disadvantage of second trimester amniocentesis is that the result is usually available only after 18 weeks' gestation. Chorionic villus sampling (CVS) and early amniocentesis can be done between 9 and 14 weeks and offer an earlier alternative. The objective was to assess comparative safety and accuracy of second ...
Alfirevic Z - - 2003
Chorionic villus sampling (CVS) is the method of choice for obtaining fetal tissue for prenatal diagnosis before 15 weeks of pregnancy. CVS can be performed using either transabdominal or transcervical approach. The type of instrument used could have a significant impact on the success rate of the procedure. An ability ...
Zlotogora Joël - - 2002
OBJECTIVE: To determine the importance of various factors on the decisions whether to terminate or continue a pregnancy after an abnormal result. METHODS: The decisions of 1467 women who had an abnormal result after an invasive prenatal test were examined according to their religion, the time of diagnosis and the ...
Grobman W A - - 2002
OBJECTIVE: To compare the perceptions of miscarriage and birth of a child with Down syndrome among pregnant women and to evaluate the implications of these preferences for the traditional 35-year old maternal age risk boundary. METHODS: An interviewer-administered survey was given to 186 pregnant women receiving antepartum care at a ...
Bozzette Maryann - - 2002
In any pregnancy, there is an approximate 3% to 5% chance that a fetal complication will occur. The most familiar prenatal diagnostics cannot be performed until the fetus is well into gestation, and most involve invasive procedures along with their inherent risks. In light of these facts, many noninvasive prenatal ...
Levy Ronaldo - - 2002
OBJECTIVE: To evaluate the contribution of prenatal diagnosis of zygosity by fetal DNA analysis to the management of multiple pregnancies. METHODS: Between March 1999 and March 2000, 31 same-sex multiple pregnancies, were referred to our Institute during their second trimester to have amniocentesis done. Fetal DNA variants were studied in ...
Antsaklis A - - 2002
OBJECTIVE: To study the impact of invasive procedures for prenatal diagnosis on multiple pregnancies and compare first-trimester chorionic villus sampling with second-trimester amniocentesis. DESIGN: Retrospective study of 347 second-trimester amniocenteses and 69 chorionic villus sampling procedures. RESULTS: Miscarriage occurred in 4.18% of women after amniocentesis and 4.54% of women after ...
Cohen Zvi R - - 2002
This is a report of a prenatal sonographic diagnosis of a lateral ventricle choroid plexus papilloma in an in vitro fertilization (IVF)-induced pregnancy of a 40-year-old woman. The baby was delivered at 35 weeks of gestation and surgery was performed 5 days later with a good outcome. Several cases of ...
Keulemans J L M - - 2002
Prenatal diagnosis of the Hunter syndrome (mucopolysaccharidosis type II; MPS II) is preferably achieved by the assay of iduronate-2-sulphate sulphatase (IDS) in uncultured chorionic villi (CV) as this allows early (12th week), rapid (2-3 days) and reliable results. We summarize the results of 174 prenatal analyses in the past 30 ...
Abbott Mary-Alice - - 2002
Down's syndrome is a common cause of birth defects and mental retardation. Prenatal screening and diagnosis of Down's syndrome is important to any pregnant woman interested in the health of her fetus and is of particular concern to the growing number of advanced maternal age women who are at increased ...
Becker R - - 2002
We report on three pregnancies complicated by Adams-Oliver syndrome in a consanguineous Turkish couple. Two cases were correctly diagnosed prenatally at 22+3 and 13+0 weeks gestation following the first case of Adams-Oliver syndrome in which severe anomalies of the extremities were observed at 26+5 weeks' gestation. In this first case, ...
Bán Zoltán - - 2002
OBJECTIVES: Triploidy is a common cause of spontaneous abortion in the very early stages of pregnancy. It is very rare for a prenatal diagnostic center to discover triploidy in the third trimester of pregnancy. A pregnant woman in the third trimester was referred to our genetic counselling clinic because of ...
Antshel Kevin M - - 2002
Maternal phenylketonuria (MPKU) is an increasingly common concern for health professionals involved in prenatal care. This single-participant study investigated the efficacy of prenatal psychotherapy in improving metabolic control, an important consideration in MPKU pregnancies. Results indicated a robust and positive relationship between psychotherapy and metabolic control. Levels of negative mood ...
Eisenberg Barbara - - 2002
The prenatal diagnosis of fetal genetic disease has become a routine part of obstetric care. Pregnancies at risk are identified by a number of factors, including maternal age, positive serum screening, a history of a previous affected child, a parental chromosome rearrangement or an ultrasound-identified anomaly. Invasive diagnostic testing can ...
Costa Jean-Marc - - 2002
Fetal RHD genotype determination is useful in the management of sensitized RhD-negative pregnant women. It can be ascertained early during pregnancy by chorionic villus sampling (CVS) or amniocentesis. However, these procedures are invasive, resulting both in an increased risk of fetal loss and in an increased severity of immunization due ...
Duncombe Gregory J - - 2002
OBJECTIVE: Our purpose was to review the management and outcome of pregnancies with a prenatal diagnosis of fetal congenital cystic adenomatoid malformation of the lung (CCAM). STUDY DESIGN: A retrospective review was performed of all cases since 1995 with a prenatal diagnosis of fetal CCAM from the sole tertiary perinatal ...
Brambati Bruno - - 2002
OBJECTIVE: To assess feasibility, effectiveness and risk of prenatal diagnosis by TA-CVS at 13-14 and 15-20 weeks' gestation. METHODS: CVS was performed transabdominally by free-hand single needle insertion technique under continuous ultrasound visualization on 1844 pregnant women, aged 18 to 48, at 13 to 20 weeks' gestation, whose primary indication ...
Chanprapaph Pharuhas - - 2002
OBJECTIVE: To describe the experience of prenatal diagnosis for Hb Bart's disease, by chorionic villus sampling (CVS) with DNA analysis. DESIGN: Descriptive study SETTINGS: Department of Obstetrics and Gynecology, Faculty of Medicine, Chiang Mai University. SUBJECTS: Sixteen high risk pregnancies at risk of Hb Bart's disease who were eligible for ...
Pinhas-Hamiel Orit - - 2002
We describe our experience with prenatal diagnosis of sex differentiation disorders, with focus on the role of ultrasound scans for coherent assessment of prenatal diagnosis. Over a 5-yr period all cases suspected of sexual ambiguity based on abnormal ultrasonographic scans (US) or US/genotype US discrepancy were evaluated prenatally by three ...
Chiu Rossa W K - - 2002
The discovery of the presence of fetal DNA in maternal plasma has provided a new approach for non-invasive prenatal diagnosis. At present, the prenatal diagnosis of beta thalassaemia relies on invasive methods. We designed allele-specific primers and a fluorescent probe for detection of the codon 41/42 (-CTTT) mutation in the ...
Bretelle F - - 2002
Sexual discrepancy is reported in both 46,XY females and 46,XX males, and most diagnoses of sex reversal are made in the postpubertal period. We report three cases of sexual discrepancy, which were revealed by karyotyping following genetic amniocentesis, chorionic villus sampling and fetal blood sampling. The etiologies of 46,XX male, ...
Papp Zoltán - - 2002
The author has worked in genetic counseling and prenatal genetic diagnosis and screening since 1966. He has been the Head of the Department of Obstetrics and Gynecology at Semmelweis University of Budapest for 10 years where he founded its center of prenatal genetics. This tertiary center aims to treat as ...
Lavery S A - - 2002
BACKGROUND: This study aims to report the experiences and attitudes of patients who have undergone preimplantation genetic diagnosis (PGD). The extent to which this technique is acceptable to the individuals for whom it is intended is relatively unexplored, and remains a crucial issue that may ultimately determine the value of ...
Randrianaivo Hanitra - - 2002
Fibrochondrogenesis is a rare and lethal osteochondrodysplasia with an autosomal recessive mode of inheritance. We report a male fetus in which the diagnosis of lethal osteochondrodysplasia was suspected on prenatal ultrasound and radiological examinations during the second trimester of pregnancy. After termination of pregnancy, fibrochondrogenesis was diagnosed by radiological examination ...
MacKenzie Tippi C - - 2002
Advances in prenatal diagnosis, combined with a better understanding of the natural history of prenatally diagnosed anomalies, are providing increasing opportunities to consider fetal intervention in selected cases of life-threatening malformations. Accurate prenatal diagnosis can now accurately identify fetal pathophysiology that poses an immediate threat to the life of the ...
Tachdjian Gérard - - 2002
BACKGROUND: Couples with a risk of transmitting X-linked diseases who are included in a preimplantation genetic diagnosis (PGD) programme need early and rapid fetal sex determination in two situations. The first situation is for the control of embryo sexing after PGD and the second situation is for those couples having ...
Lin S K - - 2002
Glutaric aciduria type I (GA I) is an autosomal recessively inherited inborn error with a defect of the enzyme glutaryl-CoA dehydrogenase (GCDH), which has never been diagnosed prenatally in Taiwanese patients. We present the prenatal sonographic findings and mutational analysis data of three children in two Taiwanese families. One patient ...
Berg C - - 2003
Harlequin ichthyosis (HI) is a severe and usually fatal congenital keratinization disorder with autosomal recessive inheritance. For over a decade, prenatal diagnosis of HI relied on fetoscopic or sonographically guided skin biopsies, and, therefore, was limited to previously affected families. Only a few cases of prenatal sonographic diagnosis have been ...
Marteau Theresa M - - 2002
OBJECTIVE: To describe the association between the outcomes of pregnancies diagnosed with Klinefelter syndrome (KS) and the specialty of the health professional providing pre- and post-diagnostic counselling. METHOD: Data were extracted from the case notes of the 111 cases of KS diagnosed prenatally between 1986 and 1997 in eight geographical ...
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 ...
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