Prenatal ultrasound findings in hydrolethalus: continuing difficulties in diagnosis.

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：OBJECTIVES:To compare the frequency of abnormal genetic diagnoses spanning a period before and after the availability of chromosomal microarray analysis (CMA). We hypothesised that microarray would provide additional clinically relevant information in cases of isolated hypoplastic nasal bone. METHOD:Fetuses with ultra...

journal_title：Prenatal diagnosis

authors： Gu YZ,Nisbet DL,Reidy KL,Palma-Dias R

更新日期：2019-01-01 00:00:00

abstract：OBJECTIVE:To determine the effect of needle and syringe size on the amount of tissue obtained at chorionic villus sampling METHODS:Two needle sizes, 18 and 20 gauge, and two syringe sizes 5 mL and 20 mL, were used to assess samples from term post-partum placentae. Each of the four combinations was tested by 25 aspirat...

journal_title：Prenatal diagnosis

authors： Cochrane L,Ainscough M,Alfirevic Z

更新日期：2003-12-30 00:00:00

abstract：:A case of early diagnosis at 13 weeks' gestational age of Meckel-Gruber syndrome by ultrasound is reported in a patient with a 25 per cent recurrence risk. The usefulness of genetic counselling and aimed echographic examination is discussed. ...

journal_title：Prenatal diagnosis

authors： Pachì A,Giancotti A,Torcia F,de Prosperi V,Maggi E

更新日期：1989-03-01 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：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：:Based on 9350 pregnant Japanese women who were screened by serum triple-marker determination, accuracy of predicted risk for Down syndrome was examined using 24 Down syndrome cases detected either prenatally or postnatally. The correlation is statistically very high (r = 0.98) between the predicted risks and the preva...

journal_title：Prenatal diagnosis

authors： Onda T,Tanaka T,Takeda O,Kitagawa M,Kuwabara Y,Yamamoto H,Iinuma K,Shimomura K

更新日期：1998-09-01 00:00:00

abstract：:As a preliminary step to preimplantation diagnosis of sickle cell disease in unfertilized eggs or 8-cell embryos of heterozygous parents, we established quality control for detection of the mutant and normal alleles of the beta-haemoglobin gene using single buccal cells. Efficient polymerase chain reaction (PCR) ampli...

journal_title：Prenatal diagnosis

authors： Monk M,Kenealy MR,Mohadjerani S

更新日期：1993-01-01 00:00:00

abstract：OBJECTIVE:To identify antenatal predictors of adverse perinatal outcomes in a population of preterm fetuses with early placental insufficiency diagnosed by Doppler abnormalities. METHOD:In this cross-sectional study of a cohort of singleton pregnant women diagnosed with early placental insufficiency, relationships bet...

journal_title：Prenatal diagnosis

authors： Baião AER,de Carvalho PRN,Moreira MEL,de Sá RAM,Junior SCG

更新日期：2020-02-01 00:00:00

abstract：:We have studied the opinions and attitudes of women towards prenatal diagnosis (amniocentesis/chorionic villus sampling/ultrasound/serum AFP testing). A questionnaire was sent to 185 women who had had their first baby a few months before. The respondents have a strong positive attitude towards the diagnostic procedure...

journal_title：Prenatal diagnosis

authors： Tymstra TJ,Bajema C,Beekhuis JR,Mantingh A

更新日期：1991-12-01 00:00:00

abstract：:A 17-year-old woman was referred for amniocentesis due to a low maternal serum alpha-fetoprotein (AFP) concentration in a voluntary screening test. The fetal karyotype was 48,XXYY, and the pregnancy was terminated. Autopsy of the fetus disclosed agenesis of the corpus callosum and unusual facial features. ...

journal_title：Prenatal diagnosis

authors： Nyberg RH,Karhu R,Karikoski R,Simola KO

更新日期：1994-07-01 00:00:00

abstract：:FISH analysis of uncultured interphase amniotic fluid cells from a male fetus revealed two signals using an alpha-satellite X-chromosome DNA probe. One of the signals was much smaller than the other. It was subsequently shown that the normal sized signal was located on the X chromosome and the smaller signal was locat...

journal_title：Prenatal diagnosis

authors： Winsor EJ,Dyack S,Wood-Burgess EM,Ryan G

更新日期：1999-09-01 00:00:00

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

authors： Emery SP,Narayanan S,Greene S

更新日期：2020-01-01 00:00:00

abstract：:We report one case of de novo complex chromosomal rearrangement (CCR) t(2q;3p;4q;13q) with at least five chromosomal breakpoints. This CCR was detected prenatally at 22 weeks of gestation, when mild echographic indications were disclosed during a routine examination in a female with no family history of congenital abn...

journal_title：Prenatal diagnosis

authors： Mercier S,Fellmann F,Cattin J,Bresson JL

更新日期：1996-11-01 00:00:00

abstract：:We present the first confirmed case by molecular analysis of a metaphyseal chondrodysplasia, McKusick type, in a 22-week fetus. Two novel compound heterozygous mutations, 64T> A and 79G > T, were found in the highly conserved regions of the RMRP gene. Twenty-two heterozygous g.1018 T> C mutations, two homozygous g.101...

journal_title：Prenatal diagnosis

authors： Lam AC,Chan DH,Tong TM,Tang MH,Lo SY,Lo IF,Lam ST

更新日期：2006-11-01 00:00:00

abstract：OBJECTIVES:To study the role of selected cytokines and growth factors involved in the pathogenesis of fetal chylous pleural effusion. METHODS:Seventeen fetuses with prenatal chylothorax at gestational age (GA) 17-29 weeks were enrolled as the study group during the period 2003-2005. Their pleural effusion (n = 17) and...

journal_title：Prenatal diagnosis

authors： Chen M,Hsieh CY,Shih JC,Chou CH,Ma GC,Chen TH,Lee TH,Tsai HD,Cameron AD,Chen CP

更新日期：2007-05-01 00:00:00

abstract：BACKGROUND:Whole genome array testing not only provides an increased diagnostic yield of pathogenic causative findings, but it may also reveal so called susceptibility loci (SL) for neurodevelopmental disorders. The goal of this study was to evaluate the pregnancy outcomes in SL cases and to establish a protocol for pr...

journal_title：Prenatal diagnosis

authors： Govaerts L,Srebniak M,Diderich K,Joosten M,Riedijk S,Knapen M,Go A,Papatsonis D,de Graaf K,Toolenaar T,van der Steen S,Huijbregts G,Knijnenburg J,de Vries F,Van Opstal D,Galjaard RJ

更新日期：2017-01-01 00:00:00

abstract：:Prenatal genetic diagnosis provides information for pregnancy and perinatal decision-making and management. In several small series, prenatal whole exome sequencing (WES) approaches have identified genetic diagnoses when conventional tests (karyotype and microarray) were not diagnostic. Here, we review published prena...

journal_title：Prenatal diagnosis

authors： Best S,Wou K,Vora N,Van der Veyver IB,Wapner R,Chitty LS

更新日期：2018-01-01 00:00:00

abstract：OBJECTIVE:MicroRNAs (miRNAs) are used as biomarkers in cardiovascular disease and cancer. miRNAs are involved in placental development but have not previously been investigated in twin-twin transfusion syndrome (TTTS). Our aim is to explore the miRNA profile of TTTS pregnancies. METHOD:Initial miRNA profiling was perf...

journal_title：Prenatal diagnosis

authors： Mackie FL,Baker BC,Beggs AD,Stodolna A,Morris RK,Kilby MD

更新日期：2019-07-01 00:00:00

abstract：OBJECTIVE:To determine the ability to assess the fetal anatomy and ultrasound screening markers using three-dimensional (3D) volumes acquired during the 11th to 13th  week scan, in relation to whether a fetal profile could be used as a starting section. METHODS:Post hoc analysis of 3D ultrasound volumes acquired at 11...

journal_title：Prenatal diagnosis

authors： Borrell A,Santolaya-Forgas J,Horbaczewski C,Henry RD,Dunn-Albanese L,Robinson JN

更新日期：2011-12-01 00:00:00

abstract：:Chromosomal mosaicism in amniotic fluid cells poses a serious dilemma in prenatal diagnosis since the observation may represent: (1) pseudomosaicism--an inconsequential tissue culture artefact; or (2) true mosaicism--occurring in approximately 0.20 per cent of amniocenteses with a significant impact on pregnancy outco...

journal_title：Prenatal diagnosis

authors： Schwartz S,Ashai S,Meijboom EJ,Schwartz MF,Sun CC,Cohen MM

更新日期：1989-08-01 00:00:00

abstract：:Prenatal detection of chromosome mosaicism is a relatively rare phenomenon and always constitutes a diagnostic problem. The difficulties are much more when the mosaics involve the sex chromosomes, because of the large phenotypic variability in individuals with these abnormalities. We studied 5 cases of true mosaics, 4...

journal_title：Prenatal diagnosis

authors： Nocera G,Dalpra' L,Tibiletti MG,Buscaglia M

更新日期：1985-05-01 00:00:00

abstract：OBJECTIVE:The primary objective of our study was to evaluate the long-term neurodevelopment outcome after laser surgery for twin-twin transfusion syndrome (TTTS). The secondary objective was to identify perinatal prognostic factors associated with neurodevelopmental impairment. METHOD:This was a single-center cohort p...

journal_title：Prenatal diagnosis

authors： Sananès N,Gabriele V,Weingertner AS,Ruano R,Sanz-Cortes M,Gaudineau A,Langer B,Nisand I,Akladios CY,Favre R

更新日期：2016-12-01 00:00:00

abstract：OBJECTIVES:To assess incidence and volume of fetomaternal hemorrhage (FMH) after chorionic villus sampling (CVS) by Kleihauer Betke test (KBT) and rise in maternal protein (MSAFP). METHODS:A prospective study was conducted on 61 cases requiring CVS. FMH due to CVS was assessed by KBT and MSAFP. RESULTS:Out of 61 case...

journal_title：Prenatal diagnosis

authors： Katiyar R,Kriplani A,Agarwal N,Bhatla N,Kabra M

更新日期：2007-02-01 00:00:00

abstract：:Prenatal diagnosis of Duchenne and Becker muscular dystrophy is performed as a routine procedure in many laboratories around the world, using numerous molecular genetic techniques. Rather than discussing methods that are commonly in use, this review concentrates on some of the methods that are less widely available. T...

journal_title：Prenatal diagnosis

authors： Abbs S

更新日期：1996-12-01 00:00:00

abstract：:Pachyonychia congenita type 1 (PC-1) is an autosomal dominant ectodermal dysplasia characterized by severe nail dystrophy, focal non-epidermolytic palmoplantar keratoderma (FNEPPK) and oral lesions. We have previously shown that mutations in keratin K16 cause fragility of specific epithelia resulting in phenotypes of ...

journal_title：Prenatal diagnosis

authors： Smith FJ,McKusick VA,Nielsen K,Pfendner E,Uitto J,McLean WH

更新日期：1999-10-01 00:00:00

abstract：OBJECTIVES:To describe women's preferences for prenatal testing outcomes and to explore their association with sociodemographic characteristics and attitudes. METHODS:We conducted a cross-sectional study of 584 racially/ethnically and socioeconomically diverse pregnant women aged 16 to 47 years recruited from 23 San F...

journal_title：Prenatal diagnosis

authors： Kuppermann M,Nease RF Jr,Gates E,Learman LA,Blumberg B,Gildengorin V,Washington AE

更新日期：2004-06-01 00:00:00

abstract：:Clinical diagnostic laboratories are producing next-generation sequencing-based test results that are becoming increasingly incorporated into patient care. Whole genome and exome sequencing on fetal material derived from amniocytes, chorionic villi, or products of conception is starting to be offered clinically in spe...

journal_title：Prenatal diagnosis

authors： Abou Tayoun AN,Spinner NB,Rehm HL,Green RC,Bianchi DW

更新日期：2018-01-01 00:00:00

abstract：:Childhood-onset spinal muscular atrophy (SMA) is one of the most common neurodegenerative genetic disorders. SMN1 is the SMA-determining gene deleted or mutated in the majority of SMA cases. There is no effective cure or treatment for this disease yet. Thus, the availability of prenatal testing is important. Here we r...

journal_title：Prenatal diagnosis

authors： Savas S,Eraslan S,Kantarci S,Karaman B,Acarsoz D,Tükel T,Cogulu O,Ozkinay F,Basaran S,Aydinli K,Yuksel-Apak M,Kirdar B

更新日期：2002-08-01 00:00:00

abstract：OBJECTIVE:Complications in pregnancy are suggested to be the result of intrauterine conditions in the first trimester of pregnancy. Three-dimensional ultrasound volume measurements might give more information, compared with two-dimensional measurements. Commonly available methods for volume measurements are not suited ...

journal_title：Prenatal diagnosis

authors： Smeets NA,Dvinskikh NA,Winkens B,Oei SG

更新日期：2012-08-01 00:00:00