Types II and III congenital pulmonary airway malformation with hydrops treated in utero with percutaneous sclerotherapy.

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

authors： Silverstein S,Lerer I,Sagi M,Frumkin A,Ben-Neriah Z,Abeliovich D

更新日期：2002-08-01 00:00:00

abstract：BACKGROUND:Ultrasound examination performed on a 32-year old woman at 30 weeks' gestation showed the presence of fetal malformations. Amniocentesis was performed. METHODS AND RESULTS:Cytogenetic analysis of cultured amniocytes revealed an interstitial deletion of the long arm of chromosome 5. Molecular studies confirm...

journal_title：Prenatal diagnosis

authors： Malan V,Martinovic J,Sanlaville D,Caillat S,Waill MC,Ganne ML,Tantau J,Attie-Bitach T,Vekemans M,Morichon-Delvallez N

更新日期：2006-03-01 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

authors： Hill GD,Block JR,Tanem JB,Frommelt MA

更新日期：2015-09-01 00:00:00

abstract：OBJECTIVE:To examine the potential value of maternal serum concentration of placental protein 13 (PP13) at 11-13 weeks' gestation in screening for preeclampsia (PE). METHODS:Serum PP13, PAPP-A and uterine artery pulsatility index (PI) were determined in a case-control study of 208 cases that developed PE including 48 ...

journal_title：Prenatal diagnosis

authors： Akolekar R,Syngelaki A,Beta J,Kocylowski R,Nicolaides KH

更新日期：2009-12-01 00:00:00

abstract：OBJECTIVE:To examine the ability of chorionic villus sampling (CVS) and fluorescence in situ hybridization (FISH) to detect aneuploidy before first trimester fetal reduction (FR) in sonographically normal-appearing fetuses. METHODS:A retrospective review of 470 patients referred to our unit for FR from January 2007-Ma...

journal_title：Prenatal diagnosis

authors： Rosner M,Pergament E,Andriole S,Gebb J,Dar P,Evans MI

更新日期：2013-10-01 00:00:00

abstract：:The uptake of any screening test is influenced by knowledge of the condition being screened for. In the present study, the knowledge and the source of knowledge of women offered antenatal screening for Down syndrome (DS) was assessed by means of a self-administered questionnaire. The questionnaire was administered to ...

journal_title：Prenatal diagnosis

authors： Chilaka VN,Konje JC,Stewart CR,Narayan H,Taylor DJ

更新日期：2001-03-01 00:00:00

abstract：OBJECTIVES:To assess the incidence of sex chromosome aneuploidy (SCA) predicted by noninvasive prenatal testing (NIPT), assess test performance, and compare it with nuchal translucency (NT) screening among patients seen in our prenatal diagnosis center. METHODS:We identified suspected cases of SCA by reviewing results...

journal_title：Prenatal diagnosis

authors： Reiss RE,Discenza M,Foster J,Dobson L,Wilkins-Haug L

更新日期：2017-05-01 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

authors： Silver RK,MacGregor SN,Hobart ED

更新日期：1992-03-01 00:00:00

abstract：:Reverse chromosome painting has become a powerful tool in clinical genetics for the characterization of cytogenetically unclassifiable aberrations. In this report, the application of a sensitive and rapid procedure for the complete and precise identification of four different de novo structural chromosome abnormalitie...

journal_title：Prenatal diagnosis

authors： Müller-Navia J,Nebel A,Oehler D,Theile U,Zabel B,Schleiermacher E

更新日期：1996-10-01 00:00:00

abstract：:Prenatal diagnosis of aneuploidies currently relies on invasive procedures such as chorionic villous sampling and amniocentesis. These methods can provide an accurate diagnosis of the fetal karyotype but are relatively invasive. Here, we report a case of the prenatal detection of triple X using fetal cells obtained by...

journal_title：Prenatal diagnosis

authors： Xi Zhao X,Suzumori K,Sato T

更新日期：2003-07-01 00:00:00

abstract：OBJECTIVES:To present prenatally detected mosaic tetrasomy for distal chromosome 15q and a review of the literature. CLINICAL SUBJECT AND METHODS:Amniocentesis was performed at 17 weeks' gestation because of advanced maternal age. Cytogenetic analysis revealed mosaicism for an analphoid supernumerary marker chromosome...

journal_title：Prenatal diagnosis

authors： Chen CP,Lin CC,Li YC,Chern SR,Lee CC,Chen WL,Lee MS,Wang W,Tzen CY

更新日期：2004-10-01 00:00:00

abstract：OBJECTIVE:To study associations of first trimester cell-free fetal DNA levels (in this paper referred to as cell-free placental DNA (cfpDNA) levels) and preeclampsia (PE), pregnancy-induced hypertension (PIH), gestational diabetes (GDM) and spontaneous preterm birth (sPB). METHOD:A nested case-control study was conduc...

journal_title：Prenatal diagnosis

authors： Thurik FF,Lamain-de Ruiter M,Javadi A,Kwee A,Woortmeijer H,Page-Christiaens GC,Franx A,van der Schoot CE,Koster MP

更新日期：2016-12-01 00:00:00

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

authors： Brusilov M,Wolman I,Ashwal E,Malinger G,Birnbaum R

更新日期：2018-12-01 00:00:00

abstract：:Recently we identified a P408S, P415L allele of beta-glucuronidase in several Mexican patients with mucopolysaccharidosis type VII (Sly syndrome) and presented evidence that both mutations are required to produce the MPS VII allele (Islam et al., 1996). In an attempt to determine whether either of these mutations exis...

journal_title：Prenatal diagnosis

authors： Rafiqul Islam M,Gallegos Arreola MP,Wong P,Tomatsu S,Corona JS,Sly WS

更新日期：1998-08-01 00:00:00

abstract：:Most of cystic fibrosis (CF) pre-implantation genetic diagnosis (PGD) cases described to date are limited to the detection of DeltaF508. Beside this predominant mutation, over 1000 mutations have been identified, rendering the development of a mutation-based PGD protocol impracticable. This is the reason why we, as we...

journal_title：Prenatal diagnosis

authors： Moutou C,Gardes N,Viville S

更新日期：2004-07-01 00:00:00

abstract：OBJECTIVES:Cell-free DNA (cfDNA) screening can provide false positive/negative results because the fetal fraction originates primarily from trophoblast. Consequently, invasive diagnostic testing is recommended to confirm a high-risk result. Currently, there is debate about the most appropriate invasive method. We sough...

journal_title：Prenatal diagnosis

authors： Grati FR,Bajaj K,Malvestiti F,Agrati C,Grimi B,Malvestiti B,Pompilii E,Maggi F,Gross S,Simoni G,Ferreira JC

更新日期：2015-10-01 00:00:00

abstract：:We report the prenatal diagnosis of a fetus with a de novo Robertsonian translocation: 45,XY,der(15;15)(q10;q10). Although Robertsonian translocations are common chromosomal rearrangements, those involving homologous chromosomes are infrequent. Since chromosome 15 is imprinted, uniparental disomy (UPD) is a concern wh...

journal_title：Prenatal diagnosis

authors： Abrams DJ,Aronoff AR,Ann Berend S,Roa BB,Shaffer LG,Geier MR

更新日期：2001-08-01 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

authors： Chen CP,Lin CC,Chuang CY,Lee CC,Chen WL,Jan SW,Lin SP

更新日期：1997-07-01 00:00:00

abstract：OBJECTIVE:Audit the crown-rump length (CRL) measurements taken at 11 to 13 weeks scan, using operator-specific median multiples of the median (MoM) for pregnancy-associated plasma protein-A (PAPP-A) and free β-human chorionic gonadotropin (β-hCG) plots, to identify deviations potentially related to a systematic CRL bia...

journal_title：Prenatal diagnosis

authors： Sabria J,Guirado L,Miró I,Gómez-Roig MD,Borrell A

更新日期：2017-03-01 00:00:00

abstract：OBJECTIVE:The objective of this study is to report the prenatal ultrasound scan findings in four fetuses from two families postnatally diagnosed with 17q12 microdeletion syndrome on microarray CGH and review the literature. METHODS:We report two families presenting with prenatally detected hyperechogenic kidneys. In f...

journal_title：Prenatal diagnosis

authors： Jones GE,Mousa HA,Rowley H,Houtman P,Vasudevan PC

更新日期：2015-12-01 00:00:00

abstract：OBJECTIVES:We present the first prenatal diagnosis of familial hepatic veno-occlusive disease with immunodeficiency (VODI). Homozygous mutations in the gene SP110 are the genetic basis of VODI. The proband in this report presented at three months of age with hepatomegaly hepatic failure and was found to have hypogammag...

journal_title：Prenatal diagnosis

authors： Cliffe ST,Wong M,Taylor PJ,Ruga E,Wilcken B,Lindeman R,Buckley MF,Roscioli T

更新日期：2007-07-01 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

authors： Nicolini U,Spelzini F

更新日期：2001-11-01 00:00:00

abstract：:Haemolytic disease of the fetus and newborn (HDFN) due to red cell alloimmunization was a significant cause of fetal and neonatal morbidity and mortality until the introduction of anti-D immunoglobulin, which has dramatically changed the incidence of the disease. However, it is still a major problem in affected pregna...

journal_title：Prenatal diagnosis

authors： Illanes S,Soothill P

更新日期：2010-07-01 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

authors： Ioulianos A,Wells D,Harper JC,Delhanty JD

更新日期：2000-07-01 00:00:00

abstract：OBJECTIVES:We aim to develop non-invasive prenatal diagnosis (NIPD) for cystic fibrosis (CF) and determine costs and implications for implementation. METHODS:A next-generation sequencing assay was developed to detect ten common CF mutations for exclusion of the paternal mutation in maternal plasma. Using uptake data f...

journal_title：Prenatal diagnosis

authors： Hill M,Twiss P,Verhoef TI,Drury S,McKay F,Mason S,Jenkins L,Morris S,Chitty LS

更新日期：2015-10-01 00:00:00

abstract：:Despite efforts at prevention through the use of preconception folic acid, spina bifida remains one of the most common congenital anomalies of the central nervous system that is compatible with life. It is, however, associated with a significant degree of lifelong morbidity. The development of open fetal surgery for m...

journal_title：Prenatal diagnosis

authors： Bebbington MW,Danzer E,Johnson MP,Adzick NS

更新日期：2011-07-01 00:00:00

abstract：OBJECTIVE:To present a report on prenatal diagnosis using direct SPG4 gene analysis in a family with autosomal dominant hereditary spastic paraplegia (AD-HSP). METHODS:Genetic linkage and haplotype analysis were previously carried out with chromosome 2p markers. DNA was obtained from affected individuals, the affected...

journal_title：Prenatal diagnosis

authors： Nielsen JE,Koefoed P,Kjaergaard S,Jensen LN,Nørremølle A,Hasholt L

更新日期：2004-05-01 00:00:00

abstract：OBJECTIVE:To describe prenatal magnetic resonance imaging (MRI) findings of dural sinus malformation (DSM), a very rare, congenital form of dural arteriovenous shunt (DAVS), typically affecting newborns. METHODS:Ultrasound (US) and MRI were performed at 34 weeks' gestation, and the findings of these examinations were ...

journal_title：Prenatal diagnosis

authors： Rossi A,De Biasio P,Scarso E,Gandolfo C,Pavanello M,Morana G,Venturini PL,Tortori-Donati P

更新日期：2006-01-01 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

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

更新日期：2000-08-01 00:00:00

abstract：:A systematic search was made for uniparental disomy (UPD) in familial or de novo balanced Robertsonian translocations, identified by prenatal cytogenetic investigations. Parent-of-origin studies were performed using molecular markers for both chromosomes involved in the translocation. No UPD cases were identified out ...

journal_title：Prenatal diagnosis

authors： Gualandi F,Sensi A,Trabanelli C,Falciano F,Bonfatti A,Calzolari E

更新日期：2000-06-01 00:00:00