Non-invasive prenatal diagnosis for cystic fibrosis: detection of paternal mutations, exploration of patient preferences and cost analysis.

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：:In 3 fetuses affected by congenital chloride diarrhoea there were characteristic prenatal ultrasonic findings. In all cases the fetal abdominal cavity was filled with distended loops of fetal intestine, the fetal stomach was of normal size and polyhydramnios was present. The prenatal ultrasonic findings in this metabo...

journal_title：Prenatal diagnosis

authors： Kirkinen P,Jouppila P

更新日期：1984-11-01 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：:A pregnant woman with indeterminate Duchenne muscular dystrophy (DMD) carrier status, but with DMD diagnosed in her deceased brother (unavailable for study), presented for prenatal diagnosis, intending to continue the pregnancy only if proven unaffected with DMD with near absolute certainty. Creatine kinase (CK) assay...

journal_title：Prenatal diagnosis

authors： Boelter WD,Burt BA,Spector EB,Hinton DR,Pavlova Z,Fujimoto A

更新日期：1990-11-01 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

authors： Reddy KS,Blakemore KJ,Stetten G,Corson V

更新日期：1990-07-01 00:00:00

abstract：:A case of Meckel-Gruber syndrome was diagnosed by embryoscopy at 10 menstrual weeks, allowing for early termination of pregnancy. Post-mortem examination confirmed the presence of polydactyly and bilateral cystic lesions of the mesonephros and metanephros. Both the forming nephrons and the collecting ducts were involv...

journal_title：Prenatal diagnosis

authors： Dumez Y,Dommergues M,Gubler MC,Bunduki V,Narcy F,LeMerrer M,Mandelbrot L,Berkowitz R

更新日期：1994-02-01 00:00:00

abstract：:Although fetal cells have been known to escape to the maternal circulation for a number of years, research attempts to use them for prenatal diagnosis have not had any consistent success. This review attempts to trace the history of such attempts and to document their progress and reasons for success or failure. The o...

journal_title：Prenatal diagnosis

authors： Jackson L

更新日期：2003-10-01 00:00:00

abstract：OBJECTIVE:The objective of this study was to determine the contribution of uterine (UtA) and umbilical arteries (UA) Doppler examination at 28 weeks to predict adverse pregnancy outcomes in women who had increased resistance in UtA in the early second trimester. METHODS:Women with UtA mean pulsatility index (PI) above...

journal_title：Prenatal diagnosis

authors： Ventura W,De Paco Matallana C,Prieto-Sanchez MT,Macizo MI,Pertegal M,Nieto A,Delgado JL

更新日期：2015-03-01 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 explore the genetic aetiology of fetal posterior fossa abnormalities (PFAs). METHODS:This study involved cases of PFAs that were identified by prenatal ultrasonographic screening and confirmed postnatally between January 2012 and January 2016. Conventional cytogenetic analyses and chromosomal microarray a...

journal_title：Prenatal diagnosis

authors： Lei T,Feng JL,Xie YJ,Xie HN,Zheng J,Lin MF

更新日期：2017-11-01 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：:Mosaicism in 4-8-cell human embryos analysed by fluorescence in situ hybridisation (FISH) has been widely reported, but few studies have addressed the incidence of mosaicism in more advanced embryonic stages. In the present study we analysed spare human embryos in a case of preimplantation genetic diagnosis (PGD) for ...

journal_title：Prenatal diagnosis

authors： Emiliani S,Merino EG,Van den Bergh M,Abramowicz M,Vassart G,Englert Y,Delneste D

更新日期：2000-12-01 00:00:00

abstract：:In order to keep subscribers up-to-date with the latest developments in their field, John Wiley & Sons are providing a current awareness service in each issue of the journal. The bibliography contains newly published material in the field of prenatal diagnosis. Each bibliography is divided into 17 sections: 1 Books, R...

journal_title：Prenatal diagnosis

authors：

更新日期：2001-01-01 00:00:00

abstract：OBJECTIVE:Evaluate the results obtained from Quantitative Fluorescent (QF)-PCR and conventional karyotype analysis to determine the advantages and disadvantages of dual testing in prenatal diagnosis. METHODS:From 1 June 2006 to 1 June 2010, dual testing by QF-PCR and karyotype analysis was performed in 13,500 prenatal...

journal_title：Prenatal diagnosis

authors： Papoulidis I,Siomou E,Sotiriadis A,Efstathiou G,Psara A,Sevastopoulou E,Anastasakis E,Sifakis S,Tsiligianni T,Kontodiou M,Malamaki C,Tzimina M,Petersen MB,Manolakos E,Athanasiadis A

更新日期：2012-07-01 00:00:00

abstract：:Maternal serum free beta (hCG) levels are elevated (median 2.20 MOM) in the first trimester of pregnancy in 38 Down syndrome cases as compared with appropriate controls. This observation may form the basis for its use as a marker in screening for Down syndrome in the first trimester. Altered levels of the free beta an...

journal_title：Prenatal diagnosis

authors： Macri JN,Spencer K,Aitken D,Garver K,Buchanan PD,Muller F,Boue A

更新日期：1993-07-01 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：:We report a case of maternal uniparental disomy 2, detected through routine screening of placental karyotypes following the finding of 'atypical' AFP/hCG levels in the second trimester, with intrauterine growth retardation (IUGR) but otherwise normal outcome at term. Although the child remained small, subsequent early...

journal_title：Prenatal diagnosis

authors： Wolstenholme J,White I,Sturgiss S,Carter J,Plant N,Goodship JA

更新日期：2001-10-01 00:00:00

abstract：:To assess the influence of in vitro fertilization (IVF) on maternal serum human chorionic gonadotrophin (hCG) and alpha-fetoprotein (AFP), the maternal serum hCG and AFP values were studied in 67 IVF pregnancies and compared with the results of a control group of 4732 spontaneously conceiving patients. Maternal serum ...

journal_title：Prenatal diagnosis

authors： Ribbert LS,Kornman LH,De Wolf BT,Simons AH,Jansen CA,Beekhuis JR,Mantingh A

更新日期：1996-01-01 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

authors： Kooper AJ,Faas BH,Kater-Baats E,Feuth T,Janssen JC,van der Burgt I,Lotgering FK,van Kessel AG,Smits AP

更新日期：2008-11-01 00:00:00

abstract：:An aneuploid fetus was detected prenatally by cordocentesis at 27 weeks' gestation following ultrasonographic diagnosis of severe fetal growth retardation and a large diaphragmatic hernia. The fetal karyotype was revealed to be 47,XX,der(22)t(11;22)(q23.3;q11.2) after parental bloods confirmed a balanced reciprocal tr...

journal_title：Prenatal diagnosis

authors： Kadir RA,Hastings R,Economides DL

更新日期：1997-08-01 00:00:00

abstract：OBJECTIVES:To investigate if systemic hypertension occurs in fetuses with twin-to-twin transfusion syndrome (TTTS). METHODS:We conducted an observational cohort study in a tertiary care centre in 23 pregnant women with TTTS. Polyhydramnios stuck twin sequence occurred at a median gestational age of 22 weeks (range 15-...

journal_title：Prenatal diagnosis

authors： Mahieu-Caputo D,Salomon LJ,Le Bidois J,Fermont L,Brunhes A,Jouvet P,Dumez Y,Dommergues M

更新日期：2003-08-01 00:00:00

abstract：:We present a family who sought prenatal diagnosis in order to bear a healthy child to serve as an HLA-identical bone marrow donor for their son affected with Wiskott-Aldrich syndrome. They intended to abort HLA-incompatible fetuses who would have been unsuitable bone marrow donors. This case led us to conclude that pr...

journal_title：Prenatal diagnosis

authors： Clark RD,Fletcher J,Petersen G

更新日期：1989-05-01 00:00:00

abstract：:Progressively since 1982 and as part of a nationwide programme for the diagnosis and prevention of genetic diseases, maternal serum alpha-fetoprotein (MS-AFP) screening and ultrasound fetal monitoring has been implemented in all pregnant women in Cuba. In Havana City, 328,983 pregnant women underwent MS-AFP screening ...

journal_title：Prenatal diagnosis

authors： Rodríguez L,Sánchez R,Hernández J,Carrillo L,Oliva J,Heredero L

更新日期：1997-04-01 00:00:00

abstract：OBJECTIVE:To test the hypothesis that free fetal DNA (ffDNA) circulating in maternal plasma originates mainly from the placenta we studied ffDNA levels in anembryonic pregnancies. METHODS:Maternal blood samples were collected from 15 normal first-trimester pregnancies in which fetal sex was subsequently determined and...

journal_title：Prenatal diagnosis

authors： Alberry M,Maddocks D,Jones M,Abdel Hadi M,Abdel-Fattah S,Avent N,Soothill PW

更新日期：2007-05-01 00:00:00

abstract：:In a woman with a partial hydatidiform molar pregnancy with 69,XXY karyotype, the presence of male fetal cells of trophoblastic origin was demonstrated in maternal blood by X/Y-chromosome specific PCR and by immunostaining combined with FISH on two cell populations isolated from maternal blood. Blood was obtained thre...

journal_title：Prenatal diagnosis

authors： van Wijk IJ,de Hoon AC,Griffioen S,Mulders MA,Tjoa ML,van Vugt JM,Oudejans CB

更新日期：2001-12-01 00:00:00

abstract：:Distal 10q trisomy is a well-defined but rare syndrome. Most cases are diagnosed in infancy or in childhood and rarely include prenatal findings. We present a case of fetal distal 10q trisomy with abnormal prenatal sonographic findings. A 19-year-old primigravida was referred for genetic counselling at 18 gestational ...

journal_title：Prenatal diagnosis

authors： Chen CP,Shih JC,Lee CC,Chen LF,Wang W,Wang TY

更新日期：1999-09-01 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：: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：:A single umbilical artery was seen in 10 out of 117 cytogenetically abnormal pregnancies. The abnormal karyotypes found to be associated with a single umbilical artery were trisomy 18 (n = 5), monosomy X (n = 2), triploidy (n = 1), sex chromosome (47,XYY; n = 1) and translocation (46t(X,5)(q13p15);n = 1). With the exc...

journal_title：Prenatal diagnosis

authors： Khong TY,George K

更新日期：1992-11-01 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