Abstract:
OBJECTIVE:Discussion of isolated ultrasound (US) markers for fetal aneuploidy can provoke significant patient anxiety. The objective of this study is to quantify maternal anxiety associated with the detection of these markers. METHODS:All patients undergoing routine second-trimester US examination for fetal anatomical survey over a one-year period were administered the State-Trait Anxiety Inventory (STAI) for Adults before and after the procedure. Women with isolated fetal markers for aneuploidy were notified of the findings but discouraged from pursuing amniocentesis. Rates of normal US examination, aneuploidy markers, anomalies, amniocentesis, and pregnancy outcomes were assessed across the ethnic groups. Pre- and post-ultrasound STAI surveys were scored and standardized with previously established norms. Student t-tests, Chi-square, and analysis of variance (ANOVA) were used where appropriate. RESULTS:Among the 798 patients tested, 57% were Hispanic, 30% were Asian, 6% were Black, and 7% were White. Maternal anxiety level was decreased in women after a normal US. The anxiety level increased with aneuploidy markers and was the highest with anomalies. Aneuploidy markers were more common among Hispanic and Asian fetuses, without any associated aneuploidy. Women with isolated aneuploidy markers underwent amniocentesis as often as women with advanced maternal age. CONCLUSION:The detection and communication of isolated aneuploidy markers is associated with increased maternal anxiety and unnecessary amniocentesis.
journal_name
Prenat Diagnjournal_title
Prenatal diagnosisauthors
Lee MJ,Roman AS,Lusskin S,Chen D,Dulay A,Funai EF,Monteagudo Adoi
10.1002/pd.1618subject
Has Abstractpub_date
2007-01-01 00:00:00pages
40-5issue
1eissn
0197-3851issn
1097-0223journal_volume
27pub_type
杂志文章abstract:OBJECTIVE:This study assessed decisional conflict about invasive prenatal testing among women pregnant after infertility. METHODS:We surveyed 180 pregnant women with a history of infertility using a mixed methods cross-sectional design. Difficulty in deciding whether to have prenatal testing was measured using the Dec...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.2529
更新日期:2010-06-01 00:00:00
abstract:BACKGROUND:Whole genome array testing not only provides an increased diagnostic yield of pathogenic causative findings, but it may also reveal so called susceptibility loci (SL) for neurodevelopmental disorders. The goal of this study was to evaluate the pregnancy outcomes in SL cases and to establish a protocol for pr...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4979
更新日期:2017-01-01 00:00:00
abstract::Fourteen cases of Turner syndrome (45,X), two cases of mosaic Turner syndrome (45,X/47,XXX and 45,X/ 46,XX), and one case of Turner syndrome involving an isochromosome X [46,X,i(X)(q10)] were ascertained by prenatal maternal serum alpha-fetoprotein (MSAFP) and free beta human chorionic gonadotropin (hCG) screening or ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/(SICI)1097-0223(199609)16:9<853::AID-PD945
更新日期:1996-09-01 00:00:00
abstract::In a study of 70 cases of trisomy 18 and 450 matched controls in the second trimester we have measured the maternal serum levels of the analytes alpha feto protein (AFP), free beta-human chorionic gonadotrophin (hCG) and pregnancy associated plasma protein-A (PAPP-A). We have found the median multiple of the median (M...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,多中心研究
doi:
更新日期:1999-12-01 00:00:00
abstract:OBJECTIVES:To compare liver volume between trisomy 21 and euploid fetuses at 11 to 13 weeks' gestation. METHODS:Fetal liver volume was measured by 3D ultrasound in fetuses at low risk of aneuploidies (n = 200) and another group at high risk, including 148 euploid and 37 with trisomy 21. The association of liver volume...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.2633
更新日期:2011-01-01 00:00:00
abstract::A de novo mosaic extra structurally abnormal chromosome (ESAC) was detected in 33 per cent of cultured amniotic fluid cells from a pregnant woman. Neither Q-banding nor fluorescence in situ hybridization (FISH) employing a DNA probe for nucleolar organizer region demonstrated the presence of satellites on the ESAC. Sp...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:
更新日期:1999-05-01 00:00:00
abstract::Manifestations of Fanconi Anemia Complementation Group C (FA-C) include multiple major congenital malformations, hypoplastic radius, absent thumb, growth retardation, elfin-like facial features, microphthalmia, microcephaly, cafe-au-lait spots, early onset of hematologic disease and poor survival (Auerbach, 1997). We ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1055
更新日期:2005-01-01 00:00:00
abstract:BACKGROUND:Prenatal management of abnormal abdominal situs is challenging since prognosis is highly variable depending on the associated malformations. METHODS:The authors report on two cases of ambiguous abdominal situs. Prenatal management included specialized ultrasound examination of fetal anatomy and heart, amnio...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1401
更新日期:2006-03-01 00:00:00
abstract:OBJECTIVES:To determine fetal features, which could lead to the diagnosis of Prader-Willi syndrome (PWS) during pregnancy. METHODS:We analyze the ultrasound features, genetic studies and pathologic findings in two cases of PWS diagnosed during pregnancy. RESULTS:In the first case, diminished fetal movement, polyhydra...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1973
更新日期:2008-09-01 00:00:00
abstract::Enlargement of the subarachnoid spaces can be seen in the following conditions: communicating hydrocephalus, brain atrophy and benign enlargement of the subarachnoid spaces. These disorders may begin in utero. There are no established normograms for the fetal subarachnoid spaces. This study was conducted in order to d...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/1097-0223(200011)20:11<890::aid-pd945>3.0.
更新日期:2000-11-01 00:00:00
abstract::In order to investigate whether systemic arteriovenous fistula occurring during the fetal period could induce pulmonary hypertension at birth, a fistula was surgically created between the carotid artery and jugular vein of fetal lambs at 120 days' gestation. Mean pressures in the left pulmonary artery, aorta, atrium a...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.255
更新日期:2002-01-01 00:00:00
abstract:OBJECTIVE:The aim of this study is to explore the utility of rapid medical trio exome sequencing (ES) for prenatal diagnosis using the skeletal dysplasia as an exemplar. METHOD:Pregnant women who were referred for genetic testing because of ultrasound detection of fetal abnormalities suggestive of a skeletal dysplasia...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.5653
更新日期:2020-04-01 00:00:00
abstract:OBJECTIVE:To assess diagnostic accuracy, related findings, and outcomes of fetuses with clubfoot. METHODS:Sonographic characteristics, pregnancy work-up, and postnatal outcomes were evaluated in 109 fetuses with clubfoot. RESULTS:Among 40 320 prenatal ultrasound anomaly scans, clubfoot was diagnosed in 150 (0.37%). A...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.5077
更新日期:2017-08-01 00:00:00
abstract::A case of gastric outlet obstruction diagnosed prenatally at 22 weeks' gestation is described. The differential diagnosis and the clinical management of this rare condition are discussed, and an updated literature review is presented. ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970140921
更新日期:1994-09-01 00:00:00
abstract:OBJECTIVE:To determine how parents of children with intellectual disabilities view prenatal testing and pregnancy termination for their child's condition. METHOD:We interviewed 201 English-speaking or Spanish-speaking caregivers of children aged 2 to 10 years. Primary outcomes were being disinclined to undergo prenata...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.2880
更新日期:2011-12-01 00:00:00
abstract:OBJECTIVE:To explore the genetic aetiology of fetal posterior fossa abnormalities (PFAs). METHODS:This study involved cases of PFAs that were identified by prenatal ultrasonographic screening and confirmed postnatally between January 2012 and January 2016. Conventional cytogenetic analyses and chromosomal microarray a...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.5159
更新日期:2017-11-01 00:00:00
abstract:OBJECTIVE:To present a case of partial 6q trisomy diagnosed prenatally. METHOD:A 28-year-old woman underwent genetic amniocentesis at 23 weeks of gestation on the detection of an enlarged nuchal fold (8.5 mm), which was the only clinical abnormality on routine ultrasound examination. Fetal karyotyping revealed a parti...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1526
更新日期:2006-10-01 00:00:00
abstract::A number of different models of CF carrier screening have now been tested in pilot trials. Apart from opportunistic and cascade testing (which are strictly speaking not true forms of screening), the major programmes have been directed either to young adults in primary care or to pregnant women in antenatal clinics. On...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,评审
doi:10.1002/pd.1970141309
更新日期:1994-12-01 00:00:00
abstract:OBJECTIVES:This study was performed in order to provide a description of indications for induced elective terminations of pregnancy (ETOP), their characteristics (e.g. gestational age), and their evolution over time. DESIGN OF THE STUDY:This is an epidemiological study. The geographic area covered is the French county...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.711
更新日期:2003-11-01 00:00:00
abstract:OBJECTIVE:The objective of this study was to determine the contribution of uterine (UtA) and umbilical arteries (UA) Doppler examination at 28 weeks to predict adverse pregnancy outcomes in women who had increased resistance in UtA in the early second trimester. METHODS:Women with UtA mean pulsatility index (PI) above...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4542
更新日期:2015-03-01 00:00:00
abstract::Preimplantation genetic diagnosis (PGD) involves the screening of biopsied cells from in vitro fertilization (IVF) generated embryos. This procedure allows the selective transfer of unaffected embryos and thus may be preferable to prenatal diagnosis for couples at high risk of transmitting genetic defects to their off...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/1097-0223(200007)20:7<593::aid-pd876>3.0.c
更新日期:2000-07-01 00:00:00
abstract::Since 1993, the position of the American College of Medical Genetics (ACMG) has been that prenatal interphase fluorescence in situ hybridization (FISH) is investigational. In 1997, the FDA cleared the AneuVysion assay (Vysis, Inc.) to enumerate chromosomes 13, 18, 21, X and Y for prenatal diagnosis. Data is presented ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,多中心研究,评审
doi:10.1002/pd.57
更新日期:2001-04-01 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::We report on a case of a female fetus found to be mosaic for Turner syndrome (45,X) and trisomy X (47,XXX). Chromosomal microarray analysis (CMA) failed to detect the aneuploidy because of a normal average dosage of the X chromosome. This case represents an unusual instance in which CMA may not detect chromosomal aber...
journal_title:Prenatal diagnosis
pub_type: 信件
doi:10.1002/pd.3979
更新日期:2012-11-01 00:00:00
abstract::Few reports concerning intrauterine shunting are available. We investigated the impact of this method. In order to evaluate intrauterine shunting and the complication rate for different indications, we sent a questionnaire to all German-speaking level 3 centres. In four level 3 centres, 52 intrauterine catheters were ...
journal_title:Prenatal diagnosis
pub_type: 临床试验,杂志文章,多中心研究
doi:10.1002/pd.1970140910
更新日期:1994-09-01 00:00:00
abstract::A case of combined partial mole and neural tube defect is presented. The detection of high levels of both maternal serum (MS) alpha-fetoprotein (AFP) and human chorionic gonadotrophin (hCG) during the second trimester led to the ultrasonic demonstration of anencephaly, omphalocele, and partial mole. This is the first ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970120411
更新日期:1992-04-01 00:00:00
abstract::Cervical teratomas are rare tumours which are the result of abnormal prenatal development. They are usually detected at birth, but can occasionally remain silent until adulthood. Obstruction of the airway is the major challenge in the neonatal period. Prenatal diagnosis allows for early consultation with paediatric su...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:
更新日期:1998-01-01 00:00:00
abstract:OBJECTIVE:This study aimed to detect genomic imbalances in fetuses with congenital heart defect (CHD) by high-resolution single-nucleotide polymorphism (SNP) array. METHODS:A total of 99 fetuses with CHDs with or without other ultrasound anomalies (including structural anomalies and soft markers) but normal karyotypes...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4383
更新日期:2014-09-01 00:00:00
abstract::Calcification of the heart and vessels in fetuses is a rare condition. It may be dystrophic or metastatic. An extremely rare form of vascular calcification has been termed 'idiopathic arterial calcification of infancy', which is inherited in an autosomal recessive pattern. We report four cases of myocardial calcificat...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,评审
doi:10.1002/(sici)1097-0223(199811)18:11<1186::aid-pd4
更新日期:1998-11-01 00:00:00
abstract::Fetal surgery has become a clinical reality, with interventions for twin-to-twin transfusion syndrome (TTTS) and spina bifida demonstrated to improve outcome. Fetal imaging is evolving, with the use of 3D ultrasound and fetal MRI becoming more common in clinical practise. Medical imaging analysis is also changing, wit...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,评审
doi:10.1002/pd.4660
更新日期:2015-12-01 00:00:00