Abstract:
:Urinary tract anomalies are common. Prenatal diagnosis is important and enables either special obstetric management or termination of pregnancy and probably in the future, intrauterine intervention. Transvaginal sonography (TVS) allows visualization of the normal and anomalous fetal urinary tract at an early stage. One thousand nine hundred and forty women were examined via TVS at an early stage of pregnancy between 10 and 16 weeks from the last menstrual period (LMP) and 35 anomalies (1.8 per cent) were clearly identified: 29 cases of low urinary tract obstruction, 2 cases of multicystic dysplastic kidney, 2 cases of polycystic kidney (infantile type), 1 case of double collecting system, and 1 case of horseshoe kidney. Potter syndrome could be ruled out in three patients who had delivered fetuses suffering from this anomaly in previous pregnancies. The concise and early identification of anomalies makes TVS an important aid in the hands of the obstetrician, ultrasonographer, and neonatologist.
journal_name
Prenat Diagnjournal_title
Prenatal diagnosisauthors
Bronshtein M,Yoffe N,Brandes JM,Blumenfeld Zdoi
10.1002/pd.1970101005subject
Has Abstractpub_date
1990-10-01 00:00:00pages
653-66issue
10eissn
0197-3851issn
1097-0223journal_volume
10pub_type
杂志文章abstract:BACKGROUND:Descriptions of the rarely occurring condition of conjoined twins are sparse. METHODS:We report a case series of four conjoined twin pregnancies diagnosed up to 16 weeks of gestation. One was in a quadruplet in vitro fertilization intracytoplasmic sperm injection (IVF-ICSI) pregnancy of cryopreserved embryo...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1274
更新日期:2005-09-01 00:00:00
abstract::Prenatal detection of chromosome mosaicism is a relatively rare phenomenon and always constitutes a diagnostic problem. The difficulties are much more when the mosaics involve the sex chromosomes, because of the large phenotypic variability in individuals with these abnormalities. We studied 5 cases of true mosaics, 4...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970050302
更新日期:1985-05-01 00:00:00
abstract:OBJECTIVE:This study aimed to determine the diagnostic application of multiplex ligation-dependent probe amplification (MLPA) as a stand-alone test for targeted detection of common chromosomal aneuploidies (i.e. 13, 18, 21, X and Y) in amniotic fluid cells in routine prenatal clinical practice. METHODS:In this evaluat...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.2111
更新日期:2008-11-01 00:00:00
abstract::Human chorionic gonadotrophin (hCG) levels were assayed retrospectively in stored maternal serum samples from 78 chromosomally abnormal pregnancies and 410 controls matched for gestation and maternal age. The median serum hCG concentration in 49 pregnancies with Down's syndrome was significantly elevated, at 2.18 mult...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970110204
更新日期:1991-02-01 00:00:00
abstract::Diagnosis of twin reversed arterial perfusion (TRAP) syndrome is a rare fetal anomaly that can be misdiagnosed on prenatal ultrasound. We confirmed the use of colour-flow Doppler for prenatal diagnosis of TRAP syndrome and used serial fetal echocardiography for non-invasive evaluation of the fetus. A patient with twin...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/1097-0223(200008)20:8<615::aid-pd855>3.0.c
更新日期:2000-08-01 00:00:00
abstract::We encountered a fetus who exhibited transient (at most 30 s), repeated episodes of tachyarrhythmia (240 bpm). This female neonate was born at 36 weeks of gestation and showed a markedly prolonged QT interval and transient, repeated episodes of polymorphic ventricular tachycardia. Congenital long QT syndrome was diagn...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/(sici)1097-0223(199910)19:10<990::aid-pd67
更新日期:1999-10-01 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: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: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::We report a fetus with spinal muscular atrophy type I, who presented with an increased nuchal translucency at 13 weeks' gestation. A review of the literature reveals additional cases of spinal muscular atrophy type I associated with increased nuchal translucency and suggests increased nuchal translucency may be an ear...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,评审
doi:
更新日期:1999-06-01 00:00:00
abstract::A new case of macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC) syndrome is described. The patient presented typical congenital findings in utero, although the syndrome was diagnosed postnatally. The M-CMTC syndrome should be considered when there is a marked fetal overgrowth and progressive macrocephaly...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1081
更新日期:2005-02-01 00:00:00
abstract:OBJECTIVE:MicroRNAs (miRNAs) are used as biomarkers in cardiovascular disease and cancer. miRNAs are involved in placental development but have not previously been investigated in twin-twin transfusion syndrome (TTTS). Our aim is to explore the miRNA profile of TTTS pregnancies. METHOD:Initial miRNA profiling was perf...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.5475
更新日期:2019-07-01 00:00:00
abstract::Due to the low cell concentration, cultures from early amniotic fluid specimens usually require 2-3 weeks in culture prior to karyotyping. The purpose of this study was to evaluate the culture quality of amniotic fluid cells from early pregnancy, obtained by a new filter technique. The hypothetical advantage of the te...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970131205
更新日期:1993-12-01 00:00:00
abstract::Trisomy 12 observed in chorionic villus sampling (CVS) may reflect generalized mosaicism or indicate mosaicism confined to only the placenta. In this report, four cases of trisomy 12 observed in CVS or cultured placental biopsies with varying outcomes are presented. Seven dinucleotide repeat polymorphisms for chromoso...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970151106
更新日期:1995-11-01 00:00:00
abstract:OBJECTIVES:To present the prenatal diagnosis of a fetus of mos46,X,del(Y)(q11.2)/45,X by cytogenetic and molecular analysis. CASE AND METHODS:A 35-year-old pregnant woman came to our hospital for amniocentesis, and fetal chromosomal aberrations with mos46,X, + mar/45,X were found. Fluorescence in situ hybridization re...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.817
更新日期:2004-02-01 00:00:00
abstract::Congenital megalourethra is a rare disorder. We present an early case diagnosed in the first trimester. Prenatal ultrasound showed a megalourethra with a normal fetal bladder, hyperechogenic cystic right kidney and single umbilical artery. After termination of pregnancy, necropsy confirmed all sonographic findings and...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.328
更新日期:2002-05-01 00:00:00
abstract::The purpose of the present study was to determine the postnatal outcome and prognostic factors of prenatally diagnosed ventriculomegaly, and to establish the relationship between prenatal sonographic measurements and postnatal psychomotor development. A total of 42 singleton pregnancies with sonographically determined...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/(sici)1097-0223(199806)18:6<557::aid-pd303
更新日期:1998-06-01 00:00:00
abstract::There are a number of potential biochemical markers that may have some role in predicting renal function postnatally. These include urinary sodium, calcium and beta2-microglobulin. The latter may also be measured in fetal serum. However, the accuracy of these parameters at a point in time is far from perfect as urinar...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,评审
doi:10.1002/pd.212
更新日期:2001-11-01 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:OBJECTIVE:To construct new reference charts and equations for fetal biparietal diameter (BPD), head circumference (HC), abdominal circumference (AC) and femur diaphysis length (FDL) from Korean fetuses at 12-40 weeks. METHOD:Prospective cross-sectional data obtained in one center for 5 years from a population of pregn...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1729
更新日期:2007-06-01 00:00:00
abstract::Two cases of mosaic trisomy 7 confined to the cultured cells and not found in direct preparation were detected from 200 consecutive first-trimester chorionic villus samples (CVS) analysed. The mosaicism was similar in the two cases, but the pregnancy outcome was different. In both cases, the direct metaphases from the...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970100702
更新日期:1990-07-01 00:00:00
abstract::Prenatal diagnosis of pyruvate carboxylase (PC) deficiency was performed in a family at risk for the acute neonatal form of this disease which manifests secondary citrullinemia. The diagnosis of an affected child was confirmed by enzyme assay and 3H-biotin labelling of proteins in cultured fetal skin fibroblasts. Suff...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970050112
更新日期:1985-01-01 00:00:00
abstract:OBJECTIVES:To determine the prognostic value of fetal Doppler and echocardiographic parameters for neonatal survival up to 30 days after laser coagulation in monochorionic pregnancies complicated by twin-twin transfusion syndrome (TTTS). METHODS:Fetal echocardiography and outcome data of consecutive cases of TTTS trea...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4956
更新日期:2016-12-01 00:00:00
abstract::Single umbilical artery is among the most common funicular vascular anomalies. In contrast, umbilical artery stenosis is rare, and has only been reported in three-vessel cords. We describe a case of single umbilical artery stenosis in a fetus with no associated malformations. Intrauterine fetal death occurred at 28 we...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.316
更新日期:2002-03-01 00:00:00
abstract::During an 8-year period (1984-1992), we made the ultrasonographic diagnosis of cystic adenomatoid malformation (CAM) of the lung in 58 fetuses at 17-39 weeks' gestation. We reviewed the records of these fetuses and combined the data from 74 cases reported in the literature to determine the incidence of the different t...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970140807
更新日期:1994-08-01 00:00:00
abstract::A multiple pregnancy of high rank may occur in a couple at risk for a Mendelian disorder. Prenatal diagnosis is hampered by the difficulty of (1) obtaining chorionic villi from each zygote and (2) unequivocally relating each sample to the corresponding embryo. The calculation of the genetic risk according to the numbe...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970110912
更新日期:1991-09-01 00:00:00
abstract:OBJECTIVE:This study aimed to examine the role of the 11- to 14-week ultrasound in women with negative cell-free DNA screening. METHODS:A retrospective cohort study of women at increased risk for aneuploidy based on age or medical history and negative cell-free DNA screening between March 2012 and March 2014 was condu...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4774
更新日期:2016-03-01 00:00:00
abstract::Ethmocephaly is a rare anomaly associated with partial failure of cleavage of the prosencephalon. Morphologically, it is closely related to cyclopia. We present an extremely rare case of ethmocephaly diagnosed in utero and caused by an unbalanced de novo translocation 18;21. ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.689
更新日期:2003-10-01 00:00:00
abstract::Complete laryngeal atresia is a rare congenital malformation that is known to cause hypertrophy of the fetal lung in utero. A fetus with laryngeal atresia was found to have markedly immature amniotic fluid lung maturity studies at term. Inappropriately low amniotic fluid lung maturity studies may be an important clue ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970150611
更新日期:1995-06-01 00:00:00
abstract:OBJECTIVE:The aim of the study was to analyze the risk of adverse pregnancy outcome in three subgroups with extremely low maternal pregnancy-associated plasma protein-A (PAPP-A), that is, <0.3 multiples of median (MoM) at the first trimester screening. METHOD:A cohort of 961 pregnancies with PAPP-A levels < 0.3 MoM at...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4946
更新日期:2016-12-01 00:00:00