Intra-familial variability associated with recessive RYR1 mutation diagnosed prenatally by exome sequencing.

abstract：OBJECTIVE:The aim of this study was to quantify glycosaminoglycans (GAGs) in amniotic fluid (AF) from an MPS VII fetus compared with age-matched fetuses obtained from normal pregnancies. METHOD:Disaccharides were measured by liquid chromatography tandem mass spectrometry, compared to age-matched controls. Enzyme assay...

journal_title：Prenatal diagnosis

authors： Kubaski F,Brusius-Facchin AC,Mason RW,Patel P,Burin MG,Michelin-Tirelli K,Kessler RG,Bender F,Leistner-Segal S,Moreno CA,Cavalcanti DP,Giugliani R,Tomatsu S

更新日期：2017-05-01 00:00:00

abstract：OBJECTIVE:To identify the correlation between the renal vascularization index (VI), the flow index (FI) and the vascularization and flow index (VFI) and placental and fetal hemodynamics in fetuses with growth restriction. METHOD:Bidimensional ultrasound and three-dimensional power Doppler with the VOCAL technique were...

journal_title：Prenatal diagnosis

authors： Doro GF,Senra JC,Rodrigues AS,Miyadahira S,Ribeiro RL,Francisco RPV,Bernardes LS

更新日期：2017-08-01 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：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：:Apert syndrome (AS) is clinically characterized by typical facial features and symmetrical syndactyly of the digits. AS is inherited as an autosomal dominant trait. Recently, a fibroblast growth factor receptors 2 (FGFR2) mutation, either C934G or C937G, was identified in exon IIIa. Our report documents an affected mo...

journal_title：Prenatal diagnosis

authors： Chang CC,Tsai FJ,Tsai HD,Tsai CH,Hseih YY,Lee CC,Yang TC,Wu JY

更新日期：1998-06-01 00:00:00

abstract：:Maternal uniparental disomy (UPD) 20 was found in a 35-month-old girl, the product of a pregnancy complicated by a prenatal diagnosis of mosaic trisomy 20. Phenotypic abnormalities included pre- and postnatal growth failure, microcephaly, minor dysmorphic features and psychomotor developmental delay. Chromosomal analy...

journal_title：Prenatal diagnosis

authors： Salafsky IS,MacGregor SN,Claussen U,von Eggeling F

更新日期：2001-10-01 00:00:00

abstract：:Nine hundred and thirty-six prenatal chromosomal analyses were performed by four cytogenetic centres after ultrasound diagnosis of fetal abnormalities, amniotic fluid disorders, fetal growth retardation, and fetal or placental abnormalities. During the same period, 6515 fetal karyotypes were analysed because of matern...

journal_title：Prenatal diagnosis

authors： Eydoux P,Choiset A,Le Porrier N,Thépot F,Szpiro-Tapia S,Alliet J,Ramond S,Viel JF,Gautier E,Morichon N

更新日期：1989-04-01 00:00:00

abstract：OBJECTIVE:The co-occurrence of cancer and pregnancy is more frequently diagnosed. The effects of cancer treatment on maternal and fetal outcomes are less well known. The cardiotoxic effects of chemotherapy are a specific concern for the mother and fetus. We wanted to review the existing literature, mainly consisting of...

journal_title：Prenatal diagnosis

authors： Gziri MM,Amant F,Debiève F,Van Calsteren K,De Catte L,Mertens L

更新日期：2012-07-01 00:00:00

abstract：:Reduction in serum requirement for culture of primary human amniotic fluid cells can be achieved by the addition of 10 growth-promoting factors to the nutrient medium. This supplemented medium preserves cell types normally found in amniotic fluid cell cultures supplemented with 20-30 per cent fetal bovine serum. The v...

journal_title：Prenatal diagnosis

authors： Chang HC,Jones OW

更新日期：1985-09-01 00:00:00

abstract：:A relatively simple method of obtaining high resolution chromosomes from amniotic fluid cells is described. The elongated chromosomes are achieved by adding ethidium bromide (5 micrograms/ml) to the culture 4 1/2 hours before harvesting and the high resolution banding can be produced by usual banding procedures. ...

journal_title：Prenatal diagnosis

authors： Hoo JJ,Jamro H,Schmutz S,Lin CC

更新日期：1983-07-01 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

authors： Bischoff FZ,Zenger-Hain J,Moses D,Van Dyke DL,Shaffer LG

更新日期：1995-11-01 00:00:00

abstract：OBJECTIVE:To develop a model for the prediction of gestational diabetes mellitus (GDM) from maternal characteristics and biochemical markers at 11 to 13 weeks' gestation. METHODS:A prospective screening study on early prediction of pregnancy complications (n = 11, 464), including 297 (2.6%) cases of GDM was used to cr...

journal_title：Prenatal diagnosis

authors： Nanda S,Savvidou M,Syngelaki A,Akolekar R,Nicolaides KH

更新日期：2011-02-01 00:00:00

abstract：:Fourteen cases of Turner syndrome (45,X), two cases of mosaic Turner syndrome (45,X/47,XXX and 45,X/ 46,XX), and one case of Turner syndrome involving an isochromosome X [46,X,i(X)(q10)] were ascertained by prenatal maternal serum alpha-fetoprotein (MSAFP) and free beta human chorionic gonadotropin (hCG) screening or ...

journal_title：Prenatal diagnosis

authors： Laundon CH,Spencer K,Macri JN,Anderson RW,Buchanan PD

更新日期：1996-09-01 00:00:00

abstract：OBJECTIVE:Abnormal maternal serum analytes (pregnancy associated plasma protein A, total human chorionic gonadotropin, alpha fetoprotein, Inhibin A, and unconjugated estriol) measured as part of aneuploidy screening programs have been associated with adverse obstetrical outcomes in euploid pregnancies. This study aimed...

journal_title：Prenatal diagnosis

authors： Metcalfe A,Langlois S,Macfarlane J,Vallance H,Joseph KS

更新日期：2014-02-01 00:00:00

abstract：:There are now several DNA probes which localize the cystic fibrosis mutation (CF) to chromosome 7q2.2-q3.1. The most tightly linked probes, pJ3.11 and met, are useful for first trimester prenatal diagnosis for many families provided that there is at least one living child affected by CF (Farrall et al., 1986). We desc...

journal_title：Prenatal diagnosis

authors： Law HY,Stanier P,Williamson R,Modell B,Ward RH,Petrou M,Old J,Farrall M

更新日期：1987-03-01 00:00:00

abstract：:Three different types of chromosome 12 inversion were seen in 15 individuals out of 44 individuals examined in one 8 generation family. Type 1: a pericentric inversion inv(12) (p112; q131) was found in 7 individuals and twice at prenatal diagnosis. Type 2: a paracentric inversion inv(12) (p123; p131) was seen in two i...

journal_title：Prenatal diagnosis

authors： Poulsen H,Mikkelsen M,Holmgren G

更新日期：1981-01-01 00:00:00

abstract：:An electron microscopic DOPA reaction test of fetal skin was used for the prenatal diagnosis of tyrosinase-negative oculocutaneous albinism (OCA). The subject was a 34-year-old Japanese woman in her second pregnancy. Her first child, born in 1982, had been previously examined and confirmed to have tyrosinase-negative ...

journal_title：Prenatal diagnosis

authors： Shimizu H,Ishiko A,Kikuchi A,Akiyama M,Suzumori K,Nishikawa T

更新日期：1994-06-01 00:00:00

abstract：:The prenatal sonographic findings in two children with Aicardi syndrome are reported. ...

journal_title：Prenatal diagnosis

authors： Bromley B,Krishnamoorthy KS,Benacerraf BR

更新日期：2000-04-01 00:00:00

abstract：OBJECTIVE:The aim of this study was to determine whether fetal nucleated red blood cells (NRBCs) could be distinguished from maternal cells in peripheral blood using an erythroblast scoring system based on the unique morphological and hemoglobin staining characteristics of this cell type. Presumptive fetal NRBCs were f...

journal_title：Prenatal diagnosis

authors： Cha DH,Khosrotehrani K,Bianchi DW,Johnson KL

更新日期：2005-07-01 00:00:00

abstract：:In order to gain more insight into the association between alpha-fetoprotein (AFP) and fetal chromosomal disorders, especially Down's syndrome, we measured AFP in fetal serum, amniotic fluid, and maternal serum at cordocentesis. We compared the concentration and gradient of AFP in these three compartments. Our data co...

journal_title：Prenatal diagnosis

authors： Van Lith JM,Beekhuis JR,Van Loon AJ,Mantingh A,De Wolf BT,Breed AS

更新日期：1991-08-01 00:00:00

abstract：:This study was designed to test the usefulness of the common definitions for maternal cell contamination, true mosaicism, and pseudomosaicism for amniotic fluid specimens processed by in situ culture and robotic harvesting. We prospectively studied 4309 consecutive amniotic fluid specimens processed with these methods...

journal_title：Prenatal diagnosis

authors： Moertel CA,Stupca PJ,Dewald GW

更新日期：1992-08-01 00:00:00

abstract：OBJECTIVE:The aim of this research was to evaluate the performance of a predictive model for early onset preeclampsia (PE) during early gestation. METHOD:Prospective multicenter cohort study was performed in women attending 11-14 weeks ultrasound. Medical history and biometrical variables were recorded and uterine art...

journal_title：Prenatal diagnosis

authors： Caradeux J,Serra R,Nien JK,Pérez-Sepulveda A,Schepeler M,Guerra F,Gutiérrez J,Martínez J,Cabrera C,Figueroa-Diesel H,Soothill P,Illanes SE

更新日期：2013-08-01 00:00:00

abstract：OBJECTIVE:To examine the cost and performance implications of introducing cell-free fetal DNA (cffDNA) testing within modeled scenarios in a publicly funded Canadian provincial Down syndrome (DS) prenatal screening program. METHOD:Two clinical algorithms were created: the first to represent the current screening progr...

journal_title：Prenatal diagnosis

authors： Okun N,Teitelbaum M,Huang T,Dewa CS,Hoch JS

更新日期：2014-04-01 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：OBJECTIVE:To present outcomes of fetuses with congenital pulmonary airway malformation (CPAM) treated with sclerotherapy. METHODS:Retrospective study of 8 patients with a prenatal diagnosis of CPAM type II or III with secondary hydrops treated with percutaneous sclerotherapy using 5% ethanolamine oleate (EO). All pati...

journal_title：Prenatal diagnosis

authors： Chon AH,Korst LM,Abdel-Sattar M,Llanes A,Ouzounian JG,Chmait RH

更新日期：2018-06-01 00:00:00

abstract：OBJECTIVE:This study aims to evaluate the prevalence of congenital heart disease (CHD) in monochorionic (MC) twin pregnancies with and without twin-to-twin transfusion syndrome (TTTS) in an unselected cohort, which underwent prenatal and postnatal echocardiography. METHOD:This was a retrospective cohort study includin...

journal_title：Prenatal diagnosis

authors： Springer S,Mlczoch E,Krampl-Bettelheim E,Mailáth-Pokorny M,Ulm B,Worda C,Worda K

更新日期：2014-10-01 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：OBJECTIVES:Informed choice for prenatal screening has long been considered an essential aspect of service provision, and has been researched extensively in the second trimester. This study aims at examining whether women having first-trimester screening in a private clinic had made an informed choice. METHODS:A cross-...

journal_title：Prenatal diagnosis

authors： Jaques AM,Sheffield LJ,Halliday JL

更新日期：2005-08-01 00:00:00

abstract：OBJECTIVE:To compare the prognostic value of fetal serum α1-microglobulin with that of β2-microglobulin and cystatin C for postnatal renal function. METHOD:Retrospective study of α1-microglobulin, β2-microglobulin, and cystatin C in fetal serum from 126 fetuses with congenital abnormalities of the kidney and urinary t...

journal_title：Prenatal diagnosis

authors： Nguyen C,Dreux S,Heidet L,Czerkiewicz I,Salomon LJ,Guimiot F,Schmitz T,Tsatsaris V,Boulot P,Rousseau T,Muller F

更新日期：2013-08-01 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