Abstract:
:The sonographic diagnosis of duodenal atresia and associated anomalies was made in a fetus at 15 weeks' gestation. A transient double-bubble sign was observed in three other normal fetuses. Sonographers are cautioned that normal intestinal peristalsis may cause a false image of duodenal atresia.
journal_name
Prenat Diagnjournal_title
Prenatal diagnosisauthors
Zimmer EZ,Bronshtein Mdoi
10.1002/(SICI)1097-0223(199606)16:6<564::AID-PD903subject
Has Abstractpub_date
1996-06-01 00:00:00pages
564-6issue
6eissn
0197-3851issn
1097-0223pii
10.1002/(SICI)1097-0223(199606)16:6<564::AID-PD903journal_volume
16pub_type
杂志文章abstract::We present the first confirmed case by molecular analysis of a metaphyseal chondrodysplasia, McKusick type, in a 22-week fetus. Two novel compound heterozygous mutations, 64T> A and 79G > T, were found in the highly conserved regions of the RMRP gene. Twenty-two heterozygous g.1018 T> C mutations, two homozygous g.101...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1547
更新日期:2006-11-01 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:OBJECTIVES:Prenatal diagnosis of critical congenital heart disease, which requires surgical or catheter intervention in the first 30 days of life, allows for delivery at a specialized center and can reduce preoperative morbidity and mortality. We sought to identify the risk factors for a missed prenatal diagnosis of cr...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4622
更新日期:2015-09-01 00:00:00
abstract::Multiple placental passes during chorionic villus sampling (CVS) increase the risk of fetal loss; however, specific factors that predispose to repeat aspiration have not been delineated. To identify anatomic and technical variables associated with multiple-pass procedures, a detailed review of 205 videotaped CVS proce...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970120307
更新日期:1992-03-01 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::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: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:OBJECTIVE:The aim of this study was to determine the maternal serum concentration of insulin-like growth factor-binding protein-1 (IGFBP-1) at 11-13 weeks' gestation in pregnancies that subsequently develop pre-eclampsia (PE) and to examine the possible association with uterine artery pulsatility index (PI). METHODS:M...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.2682
更新日期:2011-02-01 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::The purpose of this study was to measure anxiety in pregnant women who had low maternal serum alpha-fetoprotein (MSAFP) screening test levels, received genetic counselling and chose to undergo amniocentesis for fetal chromosome analysis. Their anxiety levels were compared with the levels in women undergoing amniocente...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970110607
更新日期:1991-06-01 00:00:00
abstract::In 3 fetuses affected by congenital chloride diarrhoea there were characteristic prenatal ultrasonic findings. In all cases the fetal abdominal cavity was filled with distended loops of fetal intestine, the fetal stomach was of normal size and polyhydramnios was present. The prenatal ultrasonic findings in this metabo...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970040611
更新日期:1984-11-01 00:00:00
abstract::In its successful annual cycle of controversies and debates, the International Society of Prenatal Diagnosis and Therapy once again addressed non-invasive prenatal testing (NIPT) by following up on the 2013 controversy, 'Should non-invasive DNA testing be the standard screening test for Down syndrome in all pregnant w...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4530
更新日期:2015-01-01 00:00:00
abstract::We describe the prenatal diagnosis and fetal phenotype of partial trisomy 12 (p13.3-pter) and partial trisomy 21 (pter-q21) due to a 3:1 segregation with tertiary aneuploidy transmitted from a maternal reciprocal translocation 12;21. Genetic amniocentesis of a 39-year-old gravida 2, para 1 woman at 19 weeks' gestation...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/(sici)1097-0223(199707)17:7<675::aid-pd114
更新日期:1997-07-01 00:00:00
abstract:OBJECTIVE:This study aimed to determine the additional diagnostic information provided by prenatal (fetal) magnetic resonance imaging (pMRI) following tertiary ultrasound (US) for fetal cranial abnormalities in complicated monochorionic gestations. METHODS:Women with complicated monochorionic gestations complicated by...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.5059
更新日期:2017-06-01 00:00:00
abstract::Although congenital mesoblastic nephroma (CMN) is a rare benign congenital renal tumor, it is the most common solid renal tumor in the newborn period. The most common presentation of congenital mesoblastic nephroma is polyhydramnios, and only one case with prenatal fetal hydrops has been previously reported. Prenatal ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.727
更新日期:2003-11-01 00:00:00
abstract::Forty-two fetuses with non-homologous Robertsonian translocations were analyzed for uniparental disomy (UPD). One fetus with a de novo translocation t(13q;14q) had maternal isodisomy of chromosome 14. In a summary of the published data (including the present study), 315 cases were analyzed for UPD after prenatal diagn...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.370
更新日期:2002-08-01 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::Among 1041 pregnancies 13 twin gestations were detected by routine ultrasonography prior to genetic amniocentesis at the Department of Prenatal Physiopathology of the University of Bologna. Clear amniotic fluid from both sacs was obtained in 12 of 13 sets of twins. All 12 sets were cytogenetically normal with normal l...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970030205
更新日期:1983-04-01 00:00:00
abstract:OBJECTIVE:To validate Illumina's two-channel NextSeq 500 sequencing system for noninvasive prenatal testing (NIPT) of fetal whole chromosome and partial aberrations. METHODS:A total of 162 plasma samples, previously sequenced for NIPT on a SOLiD 5500xl platform, were sequenced on the NextSeq 500 using 75-bp single-end...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4777
更新日期:2016-03-01 00:00:00
abstract::An excess of structural anomalies is observed in twins compared to singletons. Approximately 1-2% of twin pregnancies may face the dilemma of expectant management versus selective termination following diagnosis of an anomaly affecting only one fetus. If the option of selective fetocide is considered, the main variabl...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,评审
doi:10.1002/pd.1260
更新日期:2005-09-01 00:00:00
abstract::A single base substitution in exon 10 of the glucocerebrosidase gene was detected in families affected by Gaucher disease (GD) type III. This mutation, which results in the substitution of proline for leucine in position 444 of glucocerebrosidase, has been shown to result in type III GD in a Swedish population. Three ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970120706
更新日期:1992-07-01 00:00:00
abstract::Forty-seven twin pregnancies among 3676 patients who had a genetic amniocentesis between 1973 and 1979, are reported. The detection rate of twins at the time of amniocentesis was 62 per cent. Five (17 per cent) of the 29 women with detected twin pregnancy aborted spontaneously, these are compared with 1 (6 per cent) o...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970030202
更新日期:1983-04-01 00:00:00
abstract::The aim of this study was to evaluate the detection of fetal structural abnormalities by the 11-14 week scan. 2853 pregnant women were submitted to a routine ultrasound scan between the 11th and 14th week and the fetal skull, brain, spine, abdominal wall, limbs, stomach and bladder were examined. Following the scans t...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.200
更新日期:2002-01-01 00:00:00
abstract::The sister of a child affected by Duchenne muscular dystrophy (DMD) was referred for genetic counselling to assess the risk of her being a carrier. Her brother had died 15 years previously at the age of 8. There were no other affected males in the family. There were no methods for DNA investigation at the time of the ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970150715
更新日期:1995-07-01 00:00:00
abstract:OBJECTIVE:The aim of this study is to evaluate corpus callosum (CC) development by Magnetic Resonance Imaging (MRI) in late-onset intrauterine growth restricted (IUGR) fetuses compared to appropriate for gestational age and its association with neurobehavioral outcome. METHOD:One hundred and seventeen late-onset IUGR ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4381
更新日期:2014-09-01 00:00:00
abstract:OBJECTIVE:The objective of this article is to evaluate the efficacy of the first trimester sonomarkers (11-14 weeks) in predicting hemoglobin (Hb) Bart's disease among fetuses at risk MATERIALS AND METHODS:Prospective analysis was conducted on pregnancies at risk of fetal Hb Bart's disease at 11 to 14 weeks of gestati...
journal_title:Prenatal diagnosis
pub_type: 临床试验,杂志文章
doi:10.1002/pd.4293
更新日期:2014-03-01 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:OBJECTIVES:To describe women's preferences for prenatal testing outcomes and to explore their association with sociodemographic characteristics and attitudes. METHODS:We conducted a cross-sectional study of 584 racially/ethnically and socioeconomically diverse pregnant women aged 16 to 47 years recruited from 23 San F...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.892
更新日期:2004-06-01 00:00:00
abstract::This study was undertaken to study the applicability of genetic antenatal screening for the Finnish type of congenital nephrosis (CNF), which is a recessive disorder leading to nephrotic syndrome from birth. At Kuopio University Hospital, a total of 1303 pregnant women were offered carrier screening for CNF at the tim...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/1097-0223(200102)21:2<81::aid-pd1>3.0.co;2
更新日期:2001-02-01 00:00:00
abstract::A 37-year-old gravida was referred for CVS because of advanced maternal age. A trisomy 21 was present in all cells after short-term incubation (direct processing (DP)) and long-term culture. According to our policy, a retap was offered for confirmation of the result during the legally required 3-day waiting period bet...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970110210
更新日期:1991-02-01 00:00:00