Abstract:
OBJECTIVE:To evaluate the association between echogenic appearing lungs on ultrasonographic examination of the fetus and aneuploidy. METHODS:Cases in which echogenic lungs were prospectively identified on ultrasonographic examination were collected. Other abnormal ultrasonographic findings were documented, as were patient data pertinent to the risk of aneuploidy, such as maternal age and results of serum screening. The chromosomal complement of each identified case is reported. RESULTS:Five fetuses were identified with diffusely echogenic lungs on ultrasound examination over a two-year period. In three of the five cases, there were other ultrasound abnormalities, although in only one of these was a major congenital abnormality detected. In all three of these cases, the fetal chromosomal complement showed trisomy 21. In 1 of the 2 cases in which the echogenic lungs were an isolated finding, the fetus also was found to have trisomy 21. CONCLUSIONS:Bilateral and diffusely echogenic lungs appear to have an association with fetal trisomy 21.
journal_name
Prenat Diagnjournal_title
Prenatal diagnosisauthors
Grobman WA,Wang E,Shulman LPdoi
10.1002/pd.1112subject
Has Abstractpub_date
2005-03-01 00:00:00pages
225-8issue
3eissn
0197-3851issn
1097-0223journal_volume
25pub_type
杂志文章abstract:OBJECTIVE:The study aims to describe our two-dimensional (2D) ultrasound approach to visualize the fetal secondary palate and plot its growth curve and to describe and demonstrate its clinical implementation. METHODS:This is a two parts retrospective study. First, we measured the antero-posterior length of the bony se...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.5385
更新日期:2018-12-01 00:00:00
abstract::Between February 1994 and February 1997 a group of 881 women completed a questionnaire on the use of folic acid. During the study period the percentage of women who had been informed about the benefits of folic acid rose from 41 per cent to 90 per cent and the percentage taking supplementation rose from 18 per cent to...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:
更新日期:1999-02-01 00:00:00
abstract:OBJECTIVE:To present the results of 10 years of quantitative fluorescence PCR (QF-PCR) analysis of prenatal samples for the rapid diagnosis of the common aneuploidies. This represents the largest QF-PCR data set from a single testing centre. METHODS:QF-PCR analysis using a single assay containing 17 microsatellite mar...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.3986
更新日期:2012-12-01 00:00:00
abstract:OBJECTIVE:The aims of this study were to review fetal and maternal outcomes after management of the compromised perinatal airway via operation on placental support or ex utero intrapartum treatment and to discuss implications for future management of these complex and rare cases. METHODS:We have presented a retrospect...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4200
更新日期:2013-11-01 00:00:00
abstract:OBJECTIVES:To assess the factors associated with utilization of genetic counseling services among pregnant Israeli Arab women. METHODS:A case-control study was conducted among 414 pregnant Arab women who were referred by a family physician or a perinatologist to genetic counseling services between 2008 and 2011. Data ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4550
更新日期:2015-04-01 00:00:00
abstract::Glycogen storage disease type 1b (GSD1b) is an autosomal recessive inborn error of metabolism caused by deficiency of glucose-6-phosphate translocase (G6PT1). Current laboratory diagnosis for GSD1b is established by a functional enzyme assay of glucose-6-phosphatase in both fresh and detergent-treated liver homogenate...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/1097-0223(200009)20:9<765::aid-pd893>3.0.c
更新日期:2000-09-01 00:00:00
abstract::Prenatal diagnosis of long-chain 3-hydroxyacyl-CoA dehydrogenase (3-HAD) deficiency was performed in a family at risk. The diagnosis of an affected fetus was carried out by enzyme assay in cultured chorionic villus cells. ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970130616
更新日期:1993-06-01 00:00:00
abstract:OBJECTIVE:To explore the copy number variants (CNVs) in case of fetal duodenal obstruction (DO) and assess the associated prenatal findings and postnatal outcomes. MATERIALS AND METHODS:This retrospective study reviewed 51 fetuses with DO and the findings of chromosomal microarray analysis (CMA) used as a first-tier t...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.5834
更新日期:2020-09-30 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::Multicystic dysplastic kidney disease (MDKD) is one of the most common congenital renal anomalies. We report 16 consecutive cases of MDKD recognized in the antenatal period by sonography. Diagnosis is usually easy as MDKD has in the vast majority of cases a striking ultrasound appearance including enlargement of the k...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970070207
更新日期:1987-02-01 00:00:00
abstract:OBJECTIVE:To report on the occurrence of in utero acquired limb ischemia in two referral institutions managing monochorionic (MC) twins with and without twin-to-twin transfusion syndrome (TTTS) and estimate its prevalence. METHODS:All MC twin pregnancies assessed at two referral units between 2002 and 2007 were retros...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,多中心研究
doi:10.1002/pd.2000
更新日期:2008-09-01 00:00:00
abstract:OBJECTIVE:To report the outcome of transient abnormal cardiac flow patterns (ABCFP) at 13 to 17 weeks' gestation. METHODS AND RESULTS:Observational single operator study of transvaginal sonography scans of 13,183 fetuses. Of the 22 fetuses with ABCFP (1:600) high pulmonary valvular velocity was detected in 11 (8 of th...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.3836
更新日期:2012-05-01 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:17q12 microdeletions containing HNF1B and intragenic variants within this gene are associated with variable developmental, endocrine, and renal anomalies, often already noted prenatally as hyperechogenic/cystic kidneys. Here, we describe prenatal and postnatal phenotypes of seven individuals with HNF1B aberra...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.5556
更新日期:2019-11-01 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::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::The relatively high activity of arylsulphatase C (ASC) in the placenta is a potential risk for the misdiagnosis of arylsulphatase A (ASA) or arylsulphatase B (ASB) deficiency in chorionic villus sampling when assayed by synthetic substrates. A clear distinction between these enzymes can be achieved in either the direc...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970080708
更新日期:1988-09-01 00:00:00
abstract:OBJECTIVE:This study aimed to determine if screening for preeclampsia could be improved between 20 and 24 weeks of gestation by uterine artery Doppler (UAD), biomarkers and lipid-related markers. METHOD:Women at high risk of preeclampsia according to obstetric and medical characteristics and history were prospectively...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4198
更新日期:2013-11-01 00:00:00
abstract:OBJECTIVE:Multiple transplacental medications can be used to treat fetal tachycardia. We sought to perform a systematic review and meta-analysis to determine whether digoxin, flecainide, or sotalol was the most efficacious therapy for converting fetal tachycardia to sinus rhythm. METHOD:We performed a systematic revie...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,meta分析,评审
doi:10.1002/pd.5144
更新日期:2017-11-01 00:00:00
abstract:OBJECTIVE:To describe brain imaging findings and outcomes in fetuses with confirmed congenital toxoplasmosis (CTX). METHODS:Physicians from Prenatal Diagnosis Units in ten Latin American countries were contacted and asked to provide data on fetuses with ultrasound findings suggestive of intrauterine infection and a po...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.2795
更新日期:2011-09-01 00:00:00
abstract:OBJECTIVE:Efficient prenatal risk communication hinges upon parents' grasp of statistical information. When forming their subjective representation of a probability, pregnant women may focus on inappropriate factors and ignore the appropriate factors. METHOD:The present research investigates the subjective probability...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.2771
更新日期:2011-08-01 00:00:00
abstract::Fetal choroid plexuses have attracted the attention of perinatologists and geneticists because of the reported association between intrachoroid cysts and chromosomal abnormalities. This report deals with another variation in choroid plexus sonographic appearance-size variation. Sonographic follow-up results as well as...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/(SICI)1097-0223(199607)16:7<670::AID-PD929
更新日期:1996-07-01 00:00:00
abstract::Counselling in connection with prenatal diagnosis (PND) is a common task for the obstetrician and the midwife. However, the decision making processes of pregnant women are not completely known, for instance, the questions of women's autonomy, the decision on how to act in the case of an abnormal test, and the partner'...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970080404
更新日期:1988-05-01 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 study of the association between aneuploidy and fetal choroid plexus cysts (CPCs) is presented. By reviewing the world prospective and retrospective studies, one cannot reach an agreed conclusion since different study designs were used and meta analysis is not feasible. Our experience is that as a solitary ultrasono...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,评审
doi:
更新日期:1997-06-01 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::An aneuploid fetus was detected prenatally by cordocentesis at 27 weeks' gestation following ultrasonographic diagnosis of severe fetal growth retardation and a large diaphragmatic hernia. The fetal karyotype was revealed to be 47,XX,der(22)t(11;22)(q23.3;q11.2) after parental bloods confirmed a balanced reciprocal tr...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:
更新日期:1997-08-01 00:00:00
abstract::Fetal severe central nervous system ventriculomegaly is associated with poor neurologic outcomes, usually driven by a primary malformation, deformation, or disruption of brain parenchyma. In utero shunting of excess cerebrospinal fluid (CSF) in hopes of improving neurologic outcomes was attempted in the 1980s but was ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,评审
doi:10.1002/pd.5527
更新日期:2020-01-01 00:00:00
abstract::Four fetuses with a femur measuring greater than two standard deviations below the mean compared with the biparietal diameter are presented. These four fetuses were subsequently determined to have severe intrauterine growth retardation and no evidence of skeletal dysplasias. ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970130605
更新日期:1993-06-01 00:00:00
abstract:OBJECTIVES:To present the prenatal diagnosis of mosaic distal 5p deletion and a review of the literature. CLINICAL SUBJECT AND METHODS:A 37-year-old woman, gravida 2, para 1, underwent genetic amniocentesis at 17 weeks' gestation because of advanced maternal age. Cytogenetic analysis of the cultured amniocytes reveale...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,评审
doi:10.1002/pd.794
更新日期:2004-01-01 00:00:00