Abstract:
BACKGROUND:The use of preimplantation genetic diagnosis (PGD) to select genetically 'normal' human embryos and to transfer them to the uterus of a woman has generated considerable controversy. Debate has occurred over the implications of PGD, sex selection, safety of embryonic manipulation and eugenics. This study evaluates a range of social and moral concerns of couples towards PGD and assisted reproductive technologies (ART) prior to treatment to obtain unbiased authentic attitudes independent of the treatment cycle and the outcome. METHODS:A total of 121 subjects were administered a structured questionnaire after each couple's in vitro fertilization (IVF) or genetic counselling session. Group A consisted of 41 subjects presenting for PGD of single gene disorders (PGD-SG) and group B consisted of 48 subjects undertaking PGD for aneuploidy screening (PGD-AS). A control group consisted of 32 subjects that were about to commence their first IVF cycle. RESULTS AND DISCUSSION:All groups found PGD to be a highly acceptable treatment. They expressed little concern about its extension to testing non-disease states such as sex and they were strongly in favour of a shared decision-making model in which couples have considerable autonomy over decisions about the embryo(s) to transfer. Differences between the groups included issues surrounding the transfer of embryos, restrictions to PGD and the destruction of embryos.
journal_name
Prenat Diagnjournal_title
Prenatal diagnosisauthors
Katz MG,Fitzgerald L,Bankier A,Savulescu J,Cram DSdoi
10.1002/pd.498subject
Has Abstractpub_date
2002-12-01 00:00:00pages
1117-22issue
12eissn
0197-3851issn
1097-0223journal_volume
22pub_type
杂志文章abstract:OBJECTIVE:To compare the cost-effectiveness of performing chorionic villus sampling (CVS) of products of conception (POC) in the evaluation of recurrent miscarriage versus standard evidence-based work-up (EBW) of the couple. MATERIAL AND METHODS:A decision-analytic model was performed in couples with a third miscarria...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.5005
更新日期:2017-03-01 00:00:00
abstract:OBJECTIVES:To determine the cost effectiveness of a universal prenatal screening program for alpha- and beta-thalassaemia. METHODS:We retrospectively reviewed our program from 1998 to 2002, and calculated the direct and indirect costs of various components. RESULTS:18,936 women were screened at our prenatal clinic an...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1035
更新日期:2004-11-01 00:00:00
abstract:OBJECTIVE:The cerebroplacental ratio (CPR) is a semi-quantitative marker for fetal brain-sparing. Our purpose was to measure the CPR at the time of treatment with selective laser photocoagulation of communicating vessels in gestations with twin-twin transfusion syndrome (TTTS) to test its association with neurological ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4713
更新日期:2016-01-01 00:00:00
abstract:OBJECTIVES:To compare the frequency of abnormal genetic diagnoses spanning a period before and after the availability of chromosomal microarray analysis (CMA). We hypothesised that microarray would provide additional clinically relevant information in cases of isolated hypoplastic nasal bone. METHOD:Fetuses with ultra...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.5410
更新日期:2019-01-01 00:00:00
abstract::A case of congenital short femur in an otherwise healthy infant is described. Antenatal sonographic diagnosis was made at 26 weeks of gestation. The left femur was shorter than the right (ratio 0.82-0.85). In this case, the occurrence of congenital short femur was sporadic. The diagnosis was confirmed after delivery. ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970100110
更新日期:1990-01-01 00:00:00
abstract:OBJECTIVES:To develop a simulation model and assess the learning curve of fetal shunting. METHODS:Three staff and three trainees performed fetal shunting on a model using the fetal bladder stent. The model was evaluated according to various sources of validity evidence. The number of procedures to reach competency was...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.5599
更新日期:2019-12-01 00:00:00
abstract::A pregnant woman with indeterminate Duchenne muscular dystrophy (DMD) carrier status, but with DMD diagnosed in her deceased brother (unavailable for study), presented for prenatal diagnosis, intending to continue the pregnancy only if proven unaffected with DMD with near absolute certainty. Creatine kinase (CK) assay...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970101104
更新日期:1990-11-01 00:00:00
abstract:OBJECTIVE:To determine the prenatal factors associated with the need for extracorporeal membrane oxygenation (ECMO) and neonatal survival in congenital diaphragmatic hernia (CDH). STUDY DESIGN:A retrospective cohort study of all cases of CDH seen in our center between 1998 and 2008. Prenatal ultrasound and neonatal re...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.2508
更新日期:2010-06-01 00:00:00
abstract::Prenatal diagnosis of cord defects by means of ultrasound examination is possible and highly accurate. Although this is a rare pathological finding, we report two cases in which umbilical cord pseudocysts were associated with trisomy 18. These observations underscore the need of umbilical blood sampling for establishi...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970080802
更新日期:1988-10-01 00:00:00
abstract:OBJECTIVES:Fetal aortic valvuloplasty (FAV) for severe aortic stenosis (AS) has shown promise in averting progression to hypoplastic left heart syndrome. After FAV, predicting which fetuses will achieve a biventricular (BiV) circulation after birth remains challenging. Identifying predictors of postnatal circulation on...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.5885
更新日期:2021-01-18 00:00:00
abstract::Haemolytic disease of the fetus and newborn (HDFN) due to red cell alloimmunization was a significant cause of fetal and neonatal morbidity and mortality until the introduction of anti-D immunoglobulin, which has dramatically changed the incidence of the disease. However, it is still a major problem in affected pregna...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,评审
doi:10.1002/pd.2551
更新日期:2010-07-01 00:00:00
abstract:OBJECTIVE:Advances in prenatal genetics place additional challenges as patients must receive information about a growing array of screening and testing options. This raises concerns about how to achieve a shared decision-making process that prepares patients to make an informed decision about their choices about prenat...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.5752
更新日期:2020-09-01 00:00:00
abstract:OBJECTIVE:To determine the underlying molecular aetiology in a non-consanguineous Irish family who have had three fetal losses because of a primary myopathy characterised by fetal akinesia, arthrogryposis multiplex, bilateral pulmonary hypoplasia and reduced muscle bulk. METHODS:Fetal DNA extracted from amniotic cells...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4925
更新日期:2016-11-01 00:00:00
abstract::Seeking to optimize a novel method of isolating rare fetal erythroid cells in cultures from maternal blood, we have explored the effects of serum supplement on fetal and adult erythropoiesis. We used flow cytometry and sorting after labelling with antibodies to fetal haemoglobin (HbF) and adult haemoglobin (HbA). In a...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:
更新日期:1999-07-01 00:00:00
abstract::Despite efforts at prevention through the use of preconception folic acid, spina bifida remains one of the most common congenital anomalies of the central nervous system that is compatible with life. It is, however, associated with a significant degree of lifelong morbidity. The development of open fetal surgery for m...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,评审
doi:10.1002/pd.2805
更新日期:2011-07-01 00:00:00
abstract:OBJECTIVE:Genetic carrier screening has the potential to identify couples at risk of having a child affected with an autosomal recessive or X-linked disorder. However, the current prevalence of carrier status for these conditions in developing countries is not well defined. This study assesses the prevalence of carrier...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.5656
更新日期:2020-04-01 00:00:00
abstract:INTRODUCTION:Limited data exist on the outcome of Dandy-Walker malformation (DWM), Dandy-Walker variant (DWV) and mega-cisterna magna (MCM). We report the first population-based study of posterior fossa anomalies from the northern region of England. METHODS:Cases were identified from the Northern Congenital Abnormalit...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1485
更新日期:2006-08-01 00:00:00
abstract::Serum specimens were obtained by fetoscopy at 19-25 weeks' gestation from four fetuses whose mothers had had confirmed rubella earlier in pregnancy. They were tested for rubella-specific IgM by antibody capture radioimmunoassay. No specific IgM was detected in one fetus and a healthy infant was delivered at term. Spec...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970050105
更新日期:1985-01-01 00:00:00
abstract::The uptake of any screening test is influenced by knowledge of the condition being screened for. In the present study, the knowledge and the source of knowledge of women offered antenatal screening for Down syndrome (DS) was assessed by means of a self-administered questionnaire. The questionnaire was administered to ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/1097-0223(200103)21:3<159::aid-pd20>3.0.co
更新日期:2001-03-01 00:00:00
abstract:OBJECTIVE:Outcomes from in vitro fertilization (IVF)/intrauterine insemination (ICSI) cycles for patients who underwent preimplantation genetic testing for monogenic/single gene (PGT-M) and structural chromosome rearrangements (PGT-SR) patients were reviewed. Patients pursuing PGT-M and PGT-SR often do not have pre-exi...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.5496
更新日期:2019-09-01 00:00:00
abstract::We studied a family at risk for atypical TSD in which the index case showed, clinically, a late onset and a gradual psychomotor deterioration and biochemically, a residual hex. A activity in leucocytes. Two prenatal diagnoses of affected fetuses were made in this family. The first one on amniotic cells, the second one...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970040507
更新日期:1984-09-01 00:00:00
abstract::Both human epidemiologic and animal model studies demonstrate that prenatal and lactational exposure to maternal obesity and high-fat diet are associated with adverse neurodevelopmental outcomes in offspring. Neurodevelopmental outcomes described in offspring of obese women include cognitive impairment, autism spectru...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.5724
更新日期:2020-08-01 00:00:00
abstract::Cytomegalovirus (CMV) is the most common cause of congenital infection with approximately 0.5% of pregnant women in developed countries seroconverting during pregnancy. In utero transmission occurs in about one third of women who develop primary infection in the first trimester, and these fetuses are at risk for adver...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,评审
doi:10.1002/pd.4497
更新日期:2015-01-01 00:00:00
abstract:OBJECTIVES:Clinical symptoms and ultrasound signs during pregnancy could suggest the presence of esophageal atresia (EA). However, most often EA is diagnosed postnatally. The aim of our study is to evaluate the course and outcome for prenatally and postnatally diagnosed EA. In addition, we studied the outcome of isolat...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.2466
更新日期:2010-03-01 00:00:00
abstract:OBJECTIVES:Amniotic fluid stem cells (AFSCs) are derived from the amniotic fluid of the developing fetus and can give rise to diverse differentiated cells of ectoderm, mesoderm, and endoderm lineages. Intrauterine transplantation is an approach used to cure inherited genetic fetal defects during the gestation period of...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4334
更新日期:2014-05-01 00:00:00
abstract:OBJECTIVE:To identify antenatal predictors of adverse perinatal outcomes in a population of preterm fetuses with early placental insufficiency diagnosed by Doppler abnormalities. METHOD:In this cross-sectional study of a cohort of singleton pregnant women diagnosed with early placental insufficiency, relationships bet...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.5596
更新日期:2020-02-01 00:00:00
abstract:OBJECTIVE:To assess the value of biomagnetic recordings of the umbilical artery over Doppler ultrasound screening in order to predict complications of impaired uteroplacental blood flow in fetuses with intrauterine growth restriction (IUGR). METHODS:Our study population included 11 IUGR preeclamptic (34-37-weeks gesta...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.585
更新日期:2003-04-01 00:00:00
abstract::We report a liveborn infant with severe intrauterine growth retardation and renal failure, delivered following detection of non-mosaic trisomy 2 by chorionic villus biopsy in the first trimester. Detailed analysis post-delivery indicated apparent complete trisomy 2 of the chorionic tissues, with a chromosomally normal...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/(SICI)1097-0223(199610)16:10<958::AID-PD97
更新日期:1996-10-01 00:00:00
abstract::Stickler syndrome is an autosomal dominant disorder of the connective tissue which includes ocular and systemic manifestations. We report on a large kindred in which we were able to demonstrate very tight linkage between the disease and the type II collagen gene (COL2A1) (LOD score 3.91 at theta = 0). In a family in w...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970140211
更新日期:1994-02-01 00:00:00
abstract:OBJECTIVES:The aim of this study was to establish the frequency and associations of single umbilical artery (SUA) diagnosed until the first vs second or third trimester. METHODS:A retrospective cohort study was conducted on singleton pregnancies at a tertiary perinatal center. All women underwent both the first and se...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.5471
更新日期:2019-07-01 00:00:00