Simple ultrasonic diagnosis of osteogenesis imperfecta type II in early second trimester.

Abstract:

:Osteogenesis imperfecta (OI) Type II was diagnosed accurately in an at-risk fetus at 16 weeks gestation by real-time sonography. The most important findings were shortening, deformity and possibly fracture in the long bones particularly the femurs. Ultrasonic visualization of these signs in a fetus at risk will provide direct evidence in the diagnosis of OI Type II and any additional investigations are not indicated.

journal_name

Prenat Diagn

journal_title

Prenatal diagnosis

authors

Ghosh A,Woo JS,Wan CW,Wong VC

doi

10.1002/pd.1970040314

subject

Has Abstract

pub_date

1984-05-01 00:00:00

pages

235-40

issue

3

eissn

0197-3851

issn

1097-0223

journal_volume

4

pub_type

杂志文章
  • Elevated hCG as an isolated finding during the second trimester biochemical screen: genetic, ultrasonic, and perinatal significance.

    abstract::This study was undertaken in an attempt to determine the significance of elevated maternal serum human chorionic gonadotropin (MShCG), in the presence of an otherwise normal screen with respect to fetal malformations, chromosomal aberrations, and pregnancy outcome. Targeted ultrasound findings and perinatal outcome of...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章

    doi:

    authors: Fejgin MD,Kedar I,Amiel A,Ben-Tovim T,Chen R,Petel Y,Tepper R

    更新日期:1997-11-01 00:00:00

  • Identification of fetal nucleated red cells in co-cultures from fetal and adult peripheral blood: differential effects of serum on fetal and adult erythropoiesis.

    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:

    authors: Bohmer RM,Zhen D,Bianchi DW

    更新日期:1999-07-01 00:00:00

  • Prenatal assessment and management of sacrococcygeal teratoma.

    abstract::Sacrococcygeal teratoma (SCT) is one of the most common tumors in newborns with a birth prevalence of up to 1 in 21,700 births. Routine fetal anomaly screening programs allow for prenatal diagnosis in many cases. Fetal ultrasound with Doppler evaluation and more recently magnetic resonance imaging may be used to docum...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章,评审

    doi:10.1002/pd.2781

    authors: Gucciardo L,Uyttebroek A,De Wever I,Renard M,Claus F,Devlieger R,Lewi L,De Catte L,Deprest J

    更新日期:2011-07-01 00:00:00

  • Evaluation of regional left ventricular longitudinal function in 151 normal fetuses using velocity vector imaging.

    abstract:OBJECTIVE:The purpose of this study was to investigate the clinical value of velocity vector imaging (VVI) in the assessment of normal fetal regional myocardial performance and to establish a normative data set for normal Chinese fetuses. METHODS:One hundred and fifty-one healthy Chinese fetuses were divided into five...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章

    doi:10.1002/pd.2386

    authors: Peng QH,Zhou QC,Zeng S,Tian LQ,Zhang M,Tan Y,Pu DR

    更新日期:2009-12-01 00:00:00

  • COFFEE: control-free noninvasive fetal chromosomal examination using maternal plasma DNA.

    abstract:OBJECTIVE:The aim of this study is to develop an approach for analyzing plasma DNA sequencing data for noninvasive fetal chromosomal aneuploidy testing that does not require the comparison with control samples or a series of selected genomic regions. RESULTS:We developed the control-free noninvasive fetal chromosomal ...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章

    doi:10.1002/pd.5016

    authors: Sun K,Chan KC,Hudecova I,Chiu RW,Lo YM,Jiang P

    更新日期:2017-04-01 00:00:00

  • Attitudes towards prenatal diagnosis and termination of pregnancy among health professionals in Lebanon.

    abstract:OBJECTIVES:To assess the attitudes of health professionals in Lebanon towards prenatal diagnosis and termination of pregnancy, for a series of genetic, non-genetic and non-medical conditions. METHODS:A total of 158 questionnaires were sent to geneticists, family doctors, pediatricians and obstetricians/gynecologists, ...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章

    doi:10.1002/pd.429

    authors: Zahed L,Nabulsi M,Tamim H

    更新日期:2002-10-01 00:00:00

  • Prenatal diagnosis of fetal heart failure in twin reversed arterial perfusion syndrome.

    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

    authors: Osborn P,Gross TL,Shah JJ,Ma L

    更新日期:2000-08-01 00:00:00

  • Expected, prenatally discovered, and born cases of Down syndrome in Denmark during the period 1980-1998.

    abstract::In order to elucidate the consistency between generally used age-dependent risk values for Down syndrome (DS) and estimates of the probability of miscarriage in Down pregnancies we have compared expected numbers with estimated numbers of births with DS in Denmark had no intervention at all been carried out. The expect...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章

    doi:10.1002/pd.113

    authors: Larsen SO,Hansen J,Pedersen BN

    更新日期:2001-08-01 00:00:00

  • A case of maternal uniparental disomy of chromosome 9 diagnosed prenatally and the related problem of residual trisomy.

    abstract::Non-mosaic trisomy 9 was found in a chorionic villus (CV) sample taken from a 43-year-old woman referred for prenatal chromosome analysis due to advanced maternal age. Follow-up amniocentesis revealed level 2 mosaicism for trisomy 9. Trisomy 9 was not detected at fetal blood sampling. Molecular analysis of fetal (amni...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章

    doi:10.1002/1097-0223(200011)20:11<930::aid-pd955>3.0.

    authors: Slater HR,Ralph A,Daniel A,Worthington S,Roberts C

    更新日期:2000-11-01 00:00:00

  • Polyhydramnios in isolated oral cleft pregnancies: incidence and outcome in a retrospective study.

    abstract:OBJECTIVES:Polyhydramnios is suggested to be associated with oral clefts (OCs) due to swallowing problems. This study assessed incidence and outcome of idiopathic polyhydramnios in isolated OC pregnancies. METHODS:This was a retrospective cohort study of prenatally diagnosed OC. The incidence of idiopathic polyhydramn...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章

    doi:10.1002/pd.4983

    authors: Depla AL,Breugem CC,van der Horst CM,de Heus R,van den Boogaard MH,Maas SM,Pajkrt E,Bekker MN

    更新日期:2017-02-01 00:00:00

  • Fetal aqueductal stenosis: Prenatal diagnosis and intervention.

    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

    authors: Emery SP,Narayanan S,Greene S

    更新日期:2020-01-01 00:00:00

  • Identification of universal mRNA markers for noninvasive prenatal screening of trisomies.

    abstract:OBJECTIVE:The discovery of placental transcripts in peripheral blood of pregnant women prompted us to investigate which was the most appropriate biological specimen, between plasma and serum, to easily detect them and to exploit hPL (human placental lactogen), betahCG (human chorionic gonadotrophin beta-subunit), LOC90...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章

    doi:10.1002/pd.2541

    authors: Picchiassi E,Coata G,Centra M,Pennacchi L,Bini V,Di Renzo GC

    更新日期:2010-08-01 00:00:00

  • Maternal serum insulin-like growth factor-binding protein-1 (IGFBP-1) at 11-13 weeks in pre-eclampsia.

    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

    authors: Sifakis S,Akolekar R,Kappou D,Mantas N,Nicolaides KH

    更新日期:2011-02-01 00:00:00

  • Prenatal exclusion of Stickler syndrome.

    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

    authors: Zlotogora J,Granat M,Knowlton RG

    更新日期:1994-02-01 00:00:00

  • Pre- and postnatal diagnosis and outcome of fetuses and neonates with esophageal atresia and tracheoesophageal fistula.

    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

    authors: de Jong EM,de Haan MA,Gischler SJ,Hop W,Cohen-Overbeek TE,Bax NM,de Klein A,Tibboel D,Grijseels EW

    更新日期:2010-03-01 00:00:00

  • Differential patterns of prenatal ipsilateral and contralateral lung growth in cases of isolated left-sided congenital diaphragmatic hernia.

    abstract:OBJECTIVE:The aim of this research was to compare the impact of varying degrees of visceral herniation on the growth rates of the contralateral and ipsilateral fetal lungs in cases of isolated left-sided congenital diaphragmatic hernia (CDH). METHODS:Data were retrieved from 58 fetuses with isolated left-sided CDH und...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章

    doi:10.1002/pd.4605

    authors: Phithakwatchara N,Coleman A,Peiro JL,Lee AE,Keswani SG,Kline-Fath B,Lim FY,Shaaban AF

    更新日期:2015-08-01 00:00:00

  • Economic assessment of maternal serum screening for Down's syndrome using human chorionic gonadotropin.

    abstract::The effectiveness and costs of prenatal screening programmes for Down's syndrome using maternal serum markers will vary significantly depending on the biological cut-off values chosen in order to select women, at each maternal age, who will be sent for amniocentesis. On the basis of the first French prospective study ...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章

    doi:10.1002/pd.1970130407

    authors: Seror V,Muller F,Moatti JP,Le Gales C,Boue A

    更新日期:1993-04-01 00:00:00

  • Measuring the perimeter and area of the Sylvian fissure in fetal brain during normal pregnancies using 3-dimensional ultrasound.

    abstract:OBJECTIVES:The purpose of this study was to demonstrate the normal perimeter and area of the three orthogonal planes (axial, sagittal and coronal) of the fetal Sylvian fissure along pregnancy using 3-dimensional (3D) ultrasound. METHODS:Ultrasound volumes of fetal head were acquired prospectively in 55 fetuses between...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章

    doi:10.1002/pd.4653

    authors: Gindes L,Malach S,Weisz B,Achiron R,Leibovitz Z,Weissmann-Brenner A

    更新日期:2015-11-01 00:00:00

  • Carrier screening for cystic fibrosis.

    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

    authors: Brock DJ

    更新日期:1994-12-01 00:00:00

  • Differences in perinatal outcomes according to forming period of single umbilical cord in singleton pregnancy.

    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

    authors: Nakamura M,Oba T,Takita H,Tokunaka M,Arakaki T,Goto M,Koyano M,Hamada S,Matsuoka R,Sekizawa A

    更新日期:2019-07-01 00:00:00

  • First-trimester sonographic diagnosis of distal urethral atresia with megalourethra in VACTERL association.

    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

    authors: Krapp M,Geipel A,Germer U,Krokowski M,Gembruch U

    更新日期:2002-05-01 00:00:00

  • Feto-amniotic shunting--report of the experience of four European centres.

    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

    authors: Bernaschek G,Deutinger J,Hansmann M,Bald R,Holzgreve W,Bollmann R

    更新日期:1994-09-01 00:00:00

  • Accepting or declining the offer of prenatal screening for congenital defects: test uptake and women's reasons.

    abstract:OBJECTIVES:Prenatal screening for Down syndrome has become standard practice in many western countries. In the Netherlands, however, prenatal screening tests for congenital defects are not offered routinely. The present study aims to assess test uptake in a large, unselected population of pregnant women, and to give mo...

    journal_title:Prenatal diagnosis

    pub_type: 临床试验,杂志文章,随机对照试验

    doi:10.1002/pd.1090

    authors: van den Berg M,Timmermans DR,Kleinveld JH,Garcia E,van Vugt JM,van der Wal G

    更新日期:2005-01-01 00:00:00

  • Fetal diagnostic indications for second and third trimester outpatient pregnancy termination.

    abstract:OBJECTIVE:To determine the frequency of diagnostic indications among women seeking to terminate pregnancies for reasons of fetal abnormality, spontaneous fetal demise, or a genetic disorder in a private outpatient clinic specializing in late outpatient abortion procedures. METHOD:A total of 1005 women requested termin...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章

    doi:10.1002/pd.4324

    authors: Hern WM

    更新日期:2014-05-01 00:00:00

  • The relationship of angiogenic factors to maternal and neonatal manifestations of early-onset and late-onset preeclampsia.

    abstract:OBJECTIVE:An imbalance between angiogenic and antiangiogenic factors has been implicated in the pathogenesis and severity of preeclampsia. In this study, we evaluated serum levels of an angiogenic factor and an antiangiogenic factor - placental growth factor (PlGF) and soluble fms-like tyrosine kinase 1 (sFlt-1), respe...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章

    doi:10.1002/pd.4432

    authors: Pinheiro CC,Rayol P,Gozzani L,Reis LM,Zampieri G,Dias CB,Woronik V

    更新日期:2014-11-01 00:00:00

  • Prenatal ultrasound detection of bilateral focal polymicrogyria.

    abstract:OBJECTIVES:Prenatal diagnosis by ultrasound of fetal polymicrogyria has been reported only once. METHODS:We describe an additional case of polymicrogyria in a fetus from a monozygotic twin pair, probably the consequence of twin-to-twin transfusion syndrome. RESULTS:On ultrasound, there were bilateral cortical hyperec...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章

    doi:10.1002/pd.987

    authors: Delle Urban LA,Righini A,Rustico M,Triulzi F,Nicolini U

    更新日期:2004-10-01 00:00:00

  • Variables influencing growth and morphology of colonies of cells from human amniotic fluid.

    abstract::Growth of cells from amniotic fluid was studied with respect to cell concentration in the inoculum, blood contamination of the fluid, fluid colour, fluid clarity, gestational age of the pregnancy, and growth factors. Dependent variables measured were colony formation, colony size, and colony morphology after 7, 11, an...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章

    doi:10.1002/pd.1970030206

    authors: Seguin LR,Palmer CG

    更新日期:1983-04-01 00:00:00

  • HLA-G positive trophoblastic cells in transcervical samples and their isolation and analysis by laser microdissection and QF-PCR.

    abstract:OBJECTIVE:To assess the frequency of cytotrophoblastic cells in endocervical samples collected by lavage at early stages of gestation using a specific anti-HLA-G McAb (G233). From a set of four selected samples, cells identified by immunostaining were collected by laser microdissection and then tested by quantitative f...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章

    doi:10.1002/pd.511

    authors: Bulmer JN,Cioni R,Bussani C,Cirigliano V,Sole F,Costa C,Garcia P,Adinolfi M

    更新日期:2003-01-01 00:00:00

  • The use of combined ultrasound and magnetic resonance imaging in the detection of fetal anomalies.

    abstract:OBJECTIVE:To compare the referral diagnosis based on prenatal ultrasound to diagnoses made following combined ultrasound (US) and magnetic resonance imaging (MRI) evaluation at the Texas Children's Fetal Center (TCFC) and postnatal diagnosis. METHODS:We performed a retrospective review of patients referred to the TCFC...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章

    doi:10.1002/pd.2481

    authors: Santos XM,Papanna R,Johnson A,Cass DL,Olutoye OO,Moise KJ Jr,Belleza-Bascon B,Cassady CI

    更新日期:2010-05-01 00:00:00

  • Synchronization of amniotic fluid cells for high resolution cytogenetics.

    abstract::A high resolution technique was applied to amniotic fluid cells by synchronization. After inoculation, the cells were incubated for 30 h in the presence of either thymidine or 5-bromodeoxyuridine (BrdU). After removal of the blocking agent and addition of a low concentration of thymidine, the cells were incubated for ...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章

    doi:10.1002/pd.1970090107

    authors: Qu J,Dallaire L,Lemieux N,Drouin R,Richer CL

    更新日期:1989-01-01 00:00:00