Search Results
Results 451 - 500 of 1271
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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 ...
Paz A - - 2001
BACKGROUND: The use of invasive devices and broad spectrum antibiotics has increased the rate of candidal superinfections. Candida sepsis associated with pregnancy is rare. Candida sepsis following chorionic villi sampling (CVS) has never been reported. CASE: A 31 -year-old pregnant woman presented with signs of sepsis one day after undergoing ...
Nowaczyk M J - - 2000
Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder of cholesterol biosynthesis caused by mutations of the 7-dehydrocholesterol (7DHC) reductase gene (DHCR7). We present our experience with prenatal diagnosis of an affected fetus with a very mild form of SLOS. The mother underwent prenatal diagnosis by chorionic villus (CV) sampling at ...
Chen C P - - 2000
In order to keep subscribers up-to-date with the latest developments in their field, John Wiley & Sons are providing a current awareness service in each issue of the journal. The bibliography contains newly published material in the field of prenatal diagnosis. Each bibliography is divided into 17 sections: 1 Books, ...
Sirivatanapa P - - 2000
To evaluate the indications and results of prenatal diagnosis of the high risk pregnant women attending the antenatal care clinic at Maharaj Nakorn Chiang Mai Hospital, Chiang Mai University during 1988-1998, we analysed 2,315 amniocenteses, 1,000 cordocenteses, and 11,895 obstetric ultrasound examinations. Among the amniocentesis group, 2,017 cases (87%) were ...
Löffler J - - 2000
Smith-Lemli-Opitz syndrome (SLOS) is a multiple congenital anomalies syndrome caused by an abnormality in cholesterol metabolism. The clinical severity may vary from very mild to lethality in utero, making diagnosis difficult at both ends of the spectrum. Patients with severe SLOS might often escape diagnosis because they die before the ...
Ries L - - 2000
Prenatal diagnosis was performed in a family where the father has osteogenesis imperfecta (OI) type I, with a novel mutation in the COL1A1 gene: a C to T change at position c3076 (c.3076C-->T) leading to a change of arginine at codon 848 to a stop codon (R848X). Prenatal diagnosis by ...
Eddleman K A - - 2000
OBJECTIVE: This study was undertaken to determine the technical feasibility and accuracy of chorionic villus sampling before multifetal pregnancy reduction and to determine whether sampling increases the pregnancy loss rate after the reduction procedure. STUDY DESIGN: Between January 22, 1986, and January 20, 2000, a total of 1183 patients underwent ...
De Catte L - - 2000
OBJECTIVE: To tabulate genetic results and obstetric outcomes of twin pregnancies after first-trimester chorionic villus sampling (CVS). METHODS: The study included 262 consecutive women with twin pregnancies who had first-trimester CVS between 1988 and 1998. RESULTS: Major indications for prenatal diagnosis included maternal age (n = 82), pregnancies after intracytoplasmic ...
Jakobs M E - - 2000
Chorionic villus sampling (CVS) is an established invasive prenatal diagnostic method for the detection of fetal chromosome aberrations. In 1-2% the karyotype result of CVS is inconclusive and follow-up confirmation will be required. To avoid another invasive procedure we examined fetal nucleated red blood cells (NRBCs) from CVS washings for ...
Bui T H - - 2000
Congenital high-airway obstruction syndrome (CHAOS) is due to rare malformations and has been reported previously in only few cases. If the diagnosis can be made prenatally, the ex utero intrapartum treatment (EXIT) procedure may be life-saving. A healthy 28-year old nulli-para was referred because of isolated ascites found at gestational ...
Brackley K J - - 2000
BACKGROUND: Traditionally, after prenatal diagnosis of hypoplastic left-heart syndrome (HLHS) couples have been offered termination of pregnancy or comfort care. Success of postnatal surgical options such as the Norwood procedure have been associated with survival of up to 60%. Whether survival is affected by the congenital anomaly being identified prenatally ...
Faivre L - - 2000
Genetic counselling and prenatal diagnosis are major issues of mitochondrial respiratory chain deficiency, especially as these conditions are largely untreatable. In the absence of known mitochondrial or nuclear gene mutations, measurement of respiratory chain enzyme activities represents the only possibility to prevent recurrence of the disease in affected families. We ...
Browner C H - - 2000
Little attention has been paid to the impact of the increasingly routine use of fetal diagnosis on how U.S. minority women experience their pregnancies and decide whether to have their fetuses tested. Using narrative analysis, we offer the account of one Latina who, despite considerable turmoil, ultimately accepted an offer ...
Jauniaux E - - 2000
As scientific knowledge and medicine advance so do the expectations of the general public. Advances in molecular biology, ultrasonography, access to the early gestational sac and prenatal diagnosis have helped both drive and meet these expectations. We discuss the use, advantages, potential risks and complications of invasive prenatal diagnostic procedures ...
Kallinen J - - 2000
OBJECTIVE: To evaluate pregnancy outcome in women who are carriers of fragile X. DESIGN: Cross-sectional case-control study. SETTING: Department of Obstetrics and Gynaecology, Kuopio University Hospital, Finland. SAMPLE: Sixty-three singleton pregnancies in carriers of fragile X who were referred for genetic counselling and prenatal diagnosis to Kuopio University Hospital. METHODS: ...
Taylor M J - - 2000
Fetal abnormality is more common in multiple than in singleton pregnancies. This, together with the requirement to consider the risks with at least two babies to sample correctly each fetus and to undertake accurately-targeted selective termination, amounts to a major challenge for obstetricians involved in prenatal diagnosis. Early determination of ...
Gortzak-Uzan L - - 2000
BACKGROUND: Hypophosphatasia is a rare autosomal recessive metabolic disorder characterized by low serum and tissue alkaline phosphatase activity, increased urinary excretion of phosphoethanolamine and ricketslike changes in the bone. CASE: We present a case of prenatal diagnosis of congenital hypophosphatasia in a consanguineous Bedouin couple. The case was diagnosed at ...
Escudero T - - 2000
In order to keep subscribers up-to-date with the latest developments in their field, John Wiley & Sons are providing a current awareness service in each issue of the journal. The bibliography contains newly published material in the field of prenatal diagnosis. Each bibliography is divided into 17 sections: 1 Books, ...
- - 2000
In order to keep subscribers up-to-date with the latest developments in their field, John Wiley & Sons are providing a current awareness service in each issue of the journal. The bibliography contains newly published material in the field of prenatal diagnosis. Each bibliography is divided into 17 sections: 1 Books, ...
Di Naro E - - 2000
We have assessed a new technique for the isolation of fetal erythroblasts from maternal blood for the non-invasive prenatal diagnosis of pregnancies at risk of beta-thalassaemia. This method relies on the separation of erythroblasts from maternal nucleated cells by a novel step gradient and high speed centrifugation. In four of ...
Kim S K - - 2000
OBJECTIVE: To assess the adverse pregnancy outcome of post-chorionic villus sampling (CVS) amniocentesis and chorionic villus sampling. METHODS: Adverse pregnancy outcomes of 32 post-CVS amniocentesis cases and 264 CVS only cases were compared. The base-line characteristics were comparable in the 2 groups. RESULTS: One (3.1%) chromosomal abnormality was detected in ...
Graff C - - 2000
Single large mitochondrial DNA deletions (DeltamtDNA) are usually spontaneously occurring and cause a wide variety of symptoms, ranging from severe infantile multisystem disorders to adult onset progressive external ophthalmoplegia (PEO). There is always heteroplasmy with a mixture of normal and mutant mtDNA and the levels usually vary widely between tissues. ...
Ahmed S - - 2000
A service for prenatal diagnosis of beta-thalassaemia was introduced in Pakistan in May 1994. Two renowned Islamic scholars, consulted before the service was introduced, ruled that a pregnancy can be terminated if the fetus is affected by a serious genetic disorder, and if termination is before 120 days (17 weeks) ...
Jaber L - - 2000
BACKGROUND: A high rate of consanguineous marriages exists within the Israeli Arab community, with approximately half occurring between first cousins. This contributes towards a high incidence of congenital malformations and autosomal recessive diseases, many of which are detectable at prenatal diagnosis. OBJECTIVES: To assess the levels of both awareness and ...
Sehmi I K - - 2000
In order to keep subscribers up-to-date with the latest developments in their field, John Wiley & Sons are providing a current awareness service in each issue of the journal. The bibliography contains newly published material in the field of prenatal diagnosis. Each bibliography is divided into 17 sections: 1 Books, ...
Quintero R A - - 2000
OBJECTIVE: To describe the prenatal diagnosis of trichothiodystrophy (TTD) through endoscopically-guided fetal eyebrow biopsy. MATERIALS AND METHODS: A 32-year-old patient, gravida 4, para 3, with a history of 2 previous infants affected with TTD was referred at 17(5)/(7) weeks for fetal hair biopsy. DNA repair studies had been normal in ...
Wilson R D - - 2000
Invasive prenatal diagnosis continues to be the gold standard for pregnancies at increased risk of chromosomal aneuploidy or other genetic disease. Chorionic villus sampling is the procedure of choice for the first trimester. Early amniocentesis has been shown to carry increased risks of pregnancy loss, amniotic fluid leakage and talipes ...
Surbek D V - - 2000
OBJECTIVE: To explore the potential of embryofetoscopy for early diagnosis and for access to the fetal circulation in the first trimester of gestation. DESIGN: Transabdominal embryofetoscopy was performed in 14 patients scheduled for termination of pregnancy using a 1-mm semirigid fibreoptic telescope with a 18 gauge examination sheath and a ...
Todros T - - 2000
Screening for fetal cardiovascular malformations is widely performed. Its accuracy is not yet satisfactory, but better training of ultrasonographers and extension from the four-chamber view to the study of the outflow tract are probably clues to an improvement. The main impact of prenatal diagnosis is still the termination of pregnancy ...
De Braekeleer M - - 2000
Cystic fibrosis (CF) has a high incidence (1/936 live births) and carrier rate (1/15 inhabitants) in Saguenay-Lac-Saint-Jean. One objective of a major enquiry among several subsets of individuals from this high-risk population for CF was to evaluate the reproductive behaviour of couples with a CF child attending the comprehensive CF ...
Kleijer W J - - 2000
Since the introduction in 1990 of a novel fluorogenic substrate for galactose-6-sulphate sulphatase we have used this substrate for prospective prenatal diagnosis in 10 pregnancies at risk for Morquio disease type A. Chorionic villi were analysed in five cases. The results indicated an affected fetus in one pregnancy which represents ...
Antsaklis A - - 2000
The aim of this retrospective controlled study is to evaluate the impact of predisposing factors on amniocentesis-related fetal loss. It comprises 3910 consecutive cases of women, aged 20-34 years, who had genetic amniocentesis during the years 1992-97 (study group). The control group comprised 5324 women under 35, at low risk ...
Linck L M - - 2000
Smith-Lemli-Opitz syndrome (SLOS), an autosomal recessive condition with multiple malformations, mental retardation, and growth failure, results from markedly reduced activity of the final enzyme in the cholesterol biosynthetic pathway, 7-dehydrocholesterol Delta(7)-reductase (DHCR7). We diagnosed SLOS in a fetus following intrauterine demise at 32 weeks' gestation. Chorionic villus (CV) sampling had ...
Malone F D - - 2000
OBJECTIVE: To evaluate the appropriateness of fetal karyotyping after prenatal sonographic diagnosis of isolated unilateral or bilateral clubfoot. METHODS: We retrospectively reviewed a database of fetal abnormalities diagnosed by ultrasound at a single tertiary referral center from July 1994 to March 1999 for cases of unilateral or bilateral clubfoot. Fetuses ...
Lyu K J - - 2000
A 35-year-old Taiwanese woman visited us for prenatal evaluation in the 20th week of pregnancy. Both clinical observation of the mother and analysis of maternal DNA indicated a diagnosis of Apert syndrome. Sonographic examination of the fetus demonstrated findings that were consistent with this diagnosis; however, no prematurely fused cranial ...
Thakur (Mahadik) C - - 2000
This paper reports prenatal diagnosis of 787 fetuses of beta-thalassaemia and other haemoglobinopathies in Indian high-risk communities. DNA based diagnosis was offered in the first, as well as the second trimester, in 489 pregnancies (with five twins) on fetal tissues such as chorionic villus (CV) and amniocytes using the amplification ...
Tongsong T - - 2000
The objective of this study was to assess the safety and efficacy of diagnostic cordocentesis at midpregnancy. 1,320 singleton pregnancies with no obvious congenital anomalies, a gestational age of 16-24 weeks, and proper indications underwent cordocentesis using the freehand technique. The results of each procedure was prospectively collected and subsequently ...
Tongsong T - - 2000
A pregnant woman of 14 weeks' gestation was sonographically examined due to large-for-dates uterine size. The ultrasound examination showed poor ossification of all bony structures. All limbs were shortened with no evidence of fractures. The echodensity approximated that of the surrounding organs. No acoustic shadowing was observed. Based on these ...
Modell B - - 2000
National audit of informed choice in antenatal screening for thalassaemia. Audit from the UK Confidential Enquiry into Counselling for Genetic Disorders. Thalassaemia module of the UK Confidential Enquiry into Counselling for Genetic Disorders. 138 of 156 couples who had had a pregnancy affected by a major beta thalassaemia from 1990 ...
Freedman A L - - 2000
Antenatal treatment of obstructive uropathy, although widely performed, remains controversial. An overview of prenatal therapy for obstructive uropathy, the limitations of the early published experience, advances of recent years, and future directions for treatment are reviewed. The clinical approach and outcomes of the Fetal Treatment Program of Hutzel Hospital and ...
Wang J Y - - 2000
A pregnant woman who was a carrier for a balanced chromosome translocation [46,XX, t(1;6) (p31;q14)] and who had had six miscarriages, declined invasive testing but agreed to non-invasive prenatal diagnosis by analysis of fetal cells in maternal blood. Monoclonal antibody (Mab) against the zeta (z) and gamma (gamma) chains of ...
Christian S M - - 2000
Research over the last 20 years has considerably changed the understanding of the natural history and prognosis for individuals with a diagnosis of sex chromosome aneuploidy (SCA). A cross-sectional retrospective analysis of factors influencing parental decisions following a prenatal diagnosis of SCA during the time period of 1971-97 was performed. ...
Bell M - - 2000
To better understand factors associated with prenatal testing decisions, we asked individuals what they would do if through prenatal testing they discovered that they (or their partner) were carrying an affected fetus. Respondents were more uncertain about whether to continue the pregnancy when the fetus was diagnosed as having Down ...
Boyd P A - - 2000
OBJECTIVE: Evaluation of prenatal diagnosis of neural tube defects by ultrasound examination in unselected populations across Europe. SETTING: Prenatal ultrasound units in areas that report to contributing congenital malformation registers. METHODS: All cases with a suspected or confirmed neural tube defect and delivered within the 30 month study period were ...
Kaufman M H - - 2000
The principal advantage of chorionic villus sampling (cvs) over amniocentesis for the determination of the genetic constitution of the embryo is that it may be undertaken earlier in pregnancy. If carried out too early in pregnancy, it has the risk of inducing craniofacial and limb abnormalities, a condition termed the ...
Alfirevic Z - - 2000
Amniocentesis test results are usually available only after 18 weeks gestation. Chorion villus sampling (CVS) may be performed transabdominally or transvaginally, usually between 10 and 12 weeks gestation. The objective of this review was to assess the safety and accuracy of chorion villus sampling compared to amniocentesis. We searched the ...
Zahed L - - 1999
Acceptance of prenatal diagnosis and termination of pregnancy in the case of an affected fetus may vary from one country to another, depending on the health system, religious belief, cultural and educational backgrounds of the population. Following a previous study on couples at risk for a haemoglobin disorder in Lebanon, ...
Kanavakis E - - 1999
Preimplantation genetic diagnosis (PGD) offers couples at risk for transmitting an inherited disorder the possibility to avoid the need to terminate affected pregnancies, since it allows the selection of unaffected IVF embryos for transfer. PGD for monogenic diseases is most commonly accomplished by blastomere biopsy from cleavage stage embryos, followed ...
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