Amniotic fluid fibrinolytic system in fetal neural tube defects.

abstract：:Nuchal translucency (NT) measurement between 11 and 14 weeks' gestation is an undisputed marker for aneuploidies. When conventional karyotyping is normal, enlarged NT is a strong marker for adverse pregnancy outcome, associated with miscarriage, intrauterine death, congenital heart defects, and numerous other structur...

journal_title：Prenatal diagnosis

authors： Bilardo CM,Timmerman E,Pajkrt E,van Maarle M

更新日期：2010-02-01 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：OBJECTIVE:To determine the value of a first trimester fetal ultrasound examination in cases of an increased nuchal translucency (NT). METHOD:A detailed fetal ultrasound examination was performed within 4 days of a detection of a first trimester increased NT. RESULTS:As many as 23 fetuses were evaluated. Severe anomal...

journal_title：Prenatal diagnosis

authors： Bronshtein M,Zimmer EZ,Blazer S

更新日期：2008-11-01 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：:A case of congenital short femur in an otherwise healthy infant is described. Antenatal sonographic diagnosis was made at 26 weeks of gestation. The left femur was shorter than the right (ratio 0.82-0.85). In this case, the occurrence of congenital short femur was sporadic. The diagnosis was confirmed after delivery. ...

journal_title：Prenatal diagnosis

authors： Ashkenazy M,Lurie S,Ben-Itzhak I,Appelman Z,Caspi B

更新日期：1990-01-01 00:00:00

abstract：:Ataxia telangiectasia (AT) is a severe autosomal recessive disease, rare but not infrequent in Italy. Owing to the seriousness of the disease, prenatal diagnosis has been attempted in the past by means of cytogenetic, biochemical, radio-biological and indirect molecular analyses. We performed the first direct molecula...

journal_title：Prenatal diagnosis

authors： Chessa L,Piane M,Prudente S,Carducci C,Mazzilli MC,Pachti A,Negrini M,Narducci MG,Russo G,Frati L

更新日期：1999-06-01 00:00:00

abstract：:Prenatal screening using the maternal serum markers alpha-fetoprotein, human chorionic gonadotropin, and unconjugated oestriol was investigated in a native Japanese population. Comparison with a Caucasian U.S. population revealed differences which led to modification of the generally used equations for risk calculatio...

journal_title：Prenatal diagnosis

authors： Onda T,Kitagawa M,Takeda O,Sago H,Kubonoya K,Iinuma K,Bradley LA,Canick JA,Krasikov NE,Ponting NR,Grier RE

更新日期：1996-08-01 00:00:00

abstract：OBJECTIVE:Enrichment of circulating trophoblasts (CTs) from maternal blood at week 11-13 of gestation, using laminar microscale vortices, and evaluation of the performance of the VTX-1 Liquid Biopsy System in terms of CT recovery and purity. METHOD:Eight mililiter of blood was collected from 15 pregnant women and proc...

journal_title：Prenatal diagnosis

authors： Vander Plaetsen AS,Weymaere J,Tytgat O,Buyle M,Deforce D,Van Nieuwerburgh F

更新日期：2021-01-12 00:00:00

abstract：:Sex chromosome aneuploidy (SCA), when detected in amniocentesis, is usually an unexpected result of a test carried out for another purpose. For most SCAs, the prognosis is milder and less predictable than trisomy 21, and therefore parents are faced with a difficult decision regarding the option of pregnancy terminatio...

journal_title：Prenatal diagnosis

authors： Sagi M,Meiner V,Reshef N,Dagan J,Zlotogora J

更新日期：2001-06-01 00:00:00

abstract：OBJECTIVES:To determine fetal features, which could lead to the diagnosis of Prader-Willi syndrome (PWS) during pregnancy. METHODS:We analyze the ultrasound features, genetic studies and pathologic findings in two cases of PWS diagnosed during pregnancy. RESULTS:In the first case, diminished fetal movement, polyhydra...

journal_title：Prenatal diagnosis

authors： Bigi N,Faure JM,Coubes C,Puechberty J,Lefort G,Sarda P,Blanchet P

更新日期：2008-09-01 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：OBJECTIVE:To determine the detection rates of whole-genome microarray technology compared to targeted microarray analysis for chromosome abnormalities in prenatal samples submitted for diagnostic testing. METHODS:Microarray analysis using either whole-genome bacterial artificial chromosome (BAC)-based and oligonucleot...

journal_title：Prenatal diagnosis

authors： Coppinger J,Alliman S,Lamb AN,Torchia BS,Bejjani BA,Shaffer LG

更新日期：2009-12-01 00:00:00

abstract：:We present the first report of prenatally diagnosed Dandy-Walker malformation with the karyotype of partial trisomy 11 and 22 due to familial translocation t(11;22)(q23;q11) inherited in three generations. We demonstrate that the Dandy-Walker malformation can be an associated congenital malformation of supernumerary d...

journal_title：Prenatal diagnosis

authors： Chen CP,Liu FF,Jan SW,Yang YC,Lan CC

更新日期：1996-12-01 00:00:00

abstract：OBJECTIVES:A QF-PCR test has been developed to diagnose sex chromosome imbalances in prenatal samples and has been applied to a diagnostic service. METHODS:The test uses a PCR multiplex with eight primer pairs: six X-chromosome polymorphic markers, including two markers from Xp (a region not included in previously pub...

journal_title：Prenatal diagnosis

authors： Donaghue C,Roberts A,Mann K,Ogilvie CM

更新日期：2003-03-01 00:00:00

abstract：OBJECTIVE:To reevaluate the efficiency of the 12 differentially methylated regions (DMRs) used in the methylated DNA immunoprecipitation (MeDIP) real-time quantitative polymerase chain reaction (real-time qPCR) based approach, develop an improved version of the diagnostic formula and perform a larger validation study. ...

journal_title：Prenatal diagnosis

authors： Tsaliki E,Papageorgiou EA,Spyrou C,Koumbaris G,Kypri E,Kyriakou S,Sotiriou C,Touvana E,Keravnou A,Karagrigoriou A,Lamnissou K,Velissariou V,Patsalis PC

更新日期：2012-10-01 00:00:00

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_title：Prenatal diagnosis

authors： Zimmer EZ,Bronshtein M

更新日期：1996-06-01 00:00:00

abstract：OBJECTIVE:To assess the outcome of fetuses who had sonographic features suggestive of Pierre Robin Sequence (PRS). METHOD:All prenatal ultrasounds that mentioned 'posterior cleft palate', or 'micro or retrognathia' or 'PRS' over 13 and 20 years, respectively, at two obstetrical centers were reviewed. Medical records f...

journal_title：Prenatal diagnosis

authors： Lind K,Aubry MC,Belarbi N,Chalouhi C,Couly G,Benachi A,Lyonnet S,Abadie V

更新日期：2015-09-01 00:00:00

abstract：:Tyrosinaemia type I is caused by a deficiency of fumarylacetoacetate hydrolase and mainly affects the liver. This disease is characterized by the presence of a high level of succinylacetone. This metabolite has been used for prenatal diagnosis from amniotic fluid samples. One case with a normal level of succinylaceton...

journal_title：Prenatal diagnosis

authors： Poudrier J,Lettre F,St-Louis M,Tanguay RM

更新日期：1999-01-01 00:00:00

abstract：:Enteric duplication cyst is a congenital abnormality that is believed to arise from abnormal recanalization of the bowel during embryogenesis. Previous reports suggest that the condition may be suspected prenatally by sonographic demonstration of an intra-abdominal cystic mass in the second and third trimesters. We pr...

journal_title：Prenatal diagnosis

authors： Chen M,Lam YH,Lin CL,Chan KW,Hui PW,Tang MH,Lee CP,Khong PL

更新日期：2002-12-01 00:00:00

abstract：OBJECTIVE:To determine the type and frequency of pathogenic chromosomal abnormalities in fetuses diagnosed with congenital heart disease (CHD) using chromosomal microarray analysis (CMA) and validate next-generation sequencing as an alternative diagnostic method. METHOD:Chromosomal aneuploidies and submicroscopic copy...

journal_title：Prenatal diagnosis

authors： Zhu X,Li J,Ru T,Wang Y,Xu Y,Yang Y,Wu X,Cram DS,Hu Y

更新日期：2016-04-01 00:00:00

abstract：:We report a case of a fetal haemangioblastoma located in the cerebellopontine angle. On prenatal ultrasonographic examination a hyperechogenic and heterogeneous mass with a major vascularization on colour Doppler imaging was observed. It increased progressively and laminated the cerebellum. A neoplastic tumour was sus...

journal_title：Prenatal diagnosis

authors： Diguet A,Laquerrière A,Eurin D,Chanavaz-Lacheray I,Magdeleine Ruchoux M,Rossi A,Marpeau L

更新日期：2002-11-01 00:00:00

abstract：:The goal of the current paper is to present, on the basis of six investigated fetal hearts, the pathological substrate of prenatally, sonographically diagnosed echogenic intramyocardial foci. The right ventricle, left ventricle, interventricular septum and papillary muscles of both ventricles of six hearts of the fetu...

journal_title：Prenatal diagnosis

authors： Tennstedt C,Chaoui R,Vogel M,Göldner B,Dietel M

更新日期：2000-04-01 00:00:00

abstract：:Comparative genomic hybridization (CGH) is a FISH-related technique used to assess global chromosomal aberrations in a variety of human tumours. Recently CGH has been applied to cytogenetic analysis of fresh frozen fetoplacental tissues. Here we report the application of CGH to paraffin-embedded placental samples. Ten...

journal_title：Prenatal diagnosis

authors： Ozcan T,Burki N,Parkash V,Huang X,Pejovic T,Mahoney MJ,Ward DC

更新日期：2000-01-01 00:00:00

abstract：OBJECTIVES:To compare liver volume between trisomy 21 and euploid fetuses at 11 to 13 weeks' gestation. METHODS:Fetal liver volume was measured by 3D ultrasound in fetuses at low risk of aneuploidies (n = 200) and another group at high risk, including 148 euploid and 37 with trisomy 21. The association of liver volume...

journal_title：Prenatal diagnosis

authors： Gielchinsky Y,Zvanca M,Minekawa R,Persico N,Nicolaides KH

更新日期：2011-01-01 00:00:00

abstract：BACKGROUND:The use of preimplantation genetic diagnosis (PGD) to select genetically 'normal' human embryos and to transfer them to the uterus of a woman has generated considerable controversy. Debate has occurred over the implications of PGD, sex selection, safety of embryonic manipulation and eugenics. This study eval...

journal_title：Prenatal diagnosis

authors： Katz MG,Fitzgerald L,Bankier A,Savulescu J,Cram DS

更新日期：2002-12-01 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

authors： Sharony R

更新日期：1997-06-01 00:00:00

abstract：:Second trimester screening for fetal Down syndrome and trisomy 18 is available through separate protocols that combine the maternal age-specific risk and the analysis of maternal serum markers. We have determined the extent to which additional Down syndrome affected pregnancies may be identified through trisomy 18 scr...

journal_title：Prenatal diagnosis

authors： Benn PA,Ying J,Beazoglou T,Egan JF

更新日期：2001-01-01 00:00:00

abstract：:A polymorphic short tandem repeat (STR) in intron 3 (Goltsov et al., 1993) and a variable number of tandem repeats (Hind III-VNTR) flanked by two constant Hind III sites (Golstov et al., 1992) have been recently identified in the human phenylalanine hydroxylase (PAH) gene. These polymorphisms are easily detected by th...

journal_title：Prenatal diagnosis

authors： Romano V,Dianzani I,Ponzone A,Zammarchi E,Eisensmith R,Ceratto N,Bosco P,Indelicato A

更新日期：1994-10-01 00:00:00

abstract：:A child was tentatively diagnosed as having cystic fibrosis, based on neonatal presentation with severe gastrointestinal complications; the diagnosis was not confirmed biochemically and no tissues were available for DNA analysis. The mother presented in her subsequent pregnancy, and microvillar enzyme analysis of cell...

journal_title：Prenatal diagnosis

authors： Carey WF,Nelson PV,Raymond S,Morris CP

更新日期：1990-09-01 00:00:00

abstract：:We report the first prenatal diagnosis of an affected fetus with Chediak-Higashi syndrome (CHS). Diagnosis was accomplished via fetal blood sampling at 17 menstrual weeks and was confirmed after birth. Retrospective measurement of the largest acid phosphatase-positive lysosomes in cultured amniotic fluid cells and cho...

journal_title：Prenatal diagnosis

authors： Diukman R,Tanigawara S,Cowan MJ,Golbus MS

更新日期：1992-11-01 00:00:00