Fetus with long QT syndrome manifested by tachyarrhythmia: a case report.

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：:A number of different models of CF carrier screening have now been tested in pilot trials. Apart from opportunistic and cascade testing (which are strictly speaking not true forms of screening), the major programmes have been directed either to young adults in primary care or to pregnant women in antenatal clinics. On...

journal_title：Prenatal diagnosis

authors： Brock DJ

更新日期：1994-12-01 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：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：OBJECTIVE:Fetoscopic endoluminal tracheal occlusion (FETO) may improve outcome of severe isolated congenital diaphragmatic hernia (iCDH). We aimed to identify any discrepancy between initial assessment at the referring hospital and the evaluation at the fetal surgery center, and to document parental decisions following...

journal_title：Prenatal diagnosis

authors： Done E,Gucciardo L,Van Mieghem T,Devriendt K,Allegaert K,Brady P,Devlieger R,De Catte L,Lewi L,Deprest J

更新日期：2017-09-01 00:00:00

abstract：OBJECTIVE:Studies showing the efficacy and accuracy of chromosomal microarray analysis (CMA) in prenatal diagnosis may position it as a first-tier prenatal test. This study seeks to characterize the practices and attitudes of North American prenatal genetic counselors regarding CMA. METHOD:Genetic counselors (N = 196)...

journal_title：Prenatal diagnosis

authors： Mikhaelian M,Veach PM,MacFarlane I,LeRoy BS,Bower M

更新日期：2013-04-01 00:00:00

abstract：OBJECTIVES:Use high-resolution genome analysis to clarify the genomic integrity in a fetus with a cytogenetically balanced translocation t(2;9)(q11.2;q34.3). METHODS:High resolution molecular cytogenetic analyses including G-banded chromosome analysis, fluorescence in situ hybridization (FISH), and array-comparative g...

journal_title：Prenatal diagnosis

authors： Simovich MJ,Yatsenko SA,Kang SH,Cheung SW,Dudek ME,Pursley A,Ward PA,Patel A,Lupski JR

更新日期：2007-12-01 00:00:00

abstract：:We studied a family at risk for atypical TSD in which the index case showed, clinically, a late onset and a gradual psychomotor deterioration and biochemically, a residual hex. A activity in leucocytes. Two prenatal diagnoses of affected fetuses were made in this family. The first one on amniotic cells, the second one...

journal_title：Prenatal diagnosis

authors： Besançon AM,Belon JP,Castelnau L,Dumez Y,Poenaru L

更新日期：1984-09-01 00:00:00

abstract：OBJECTIVE:To test the hypothesis that the age-related increase in the birth prevalence of Down syndrome is less for women with higher levels of education due to their more frequent use of prenatal diagnosis. METHODS:We compared the effects of maternal age on the odds of Down syndrome at birth, and on amniocentesis use...

journal_title：Prenatal diagnosis

authors： Khoshnood B,Wall S,Pryde P,Lee KS

更新日期：2004-02-01 00:00:00

abstract：OBJECTIVES:The aim of this study was to establish the frequency and associations of single umbilical artery (SUA) diagnosed until the first vs second or third trimester. METHODS:A retrospective cohort study was conducted on singleton pregnancies at a tertiary perinatal center. All women underwent both the first and se...

journal_title：Prenatal diagnosis

authors： Nakamura M,Oba T,Takita H,Tokunaka M,Arakaki T,Goto M,Koyano M,Hamada S,Matsuoka R,Sekizawa A

更新日期：2019-07-01 00:00:00

abstract：:A method is described to combine the ultrasound marker nuchal translucency (NT) with serum markers so that they can be used together in prenatal screening for Down syndrome in twin pregnancies. For monochorionic twin pregnancies (taken as monozygous), the two fetus-specific NT measurements are averaged before risk is ...

journal_title：Prenatal diagnosis

authors： Wald NJ,Rish S,Hackshaw AK

更新日期：2003-07-01 00:00:00

abstract：OBJECTIVES:The present study investigated linear, area, and volume measurements of human brain samples according to Carnegie stages (CS) in an attempt to select suitable morphometric features that reflect embryonic development. METHODS:Using magnetic resonance imaging, we measured seven linear segments, three separate...

journal_title：Prenatal diagnosis

authors： Kobayashi A,Ishizu K,Yamada S,Uwabe C,Kose K,Takakuwa T

更新日期：2016-04-01 00:00:00

abstract：:We describe the detection of congenital long QT syndrome in a fetus at 37 weeks' gestation using magnetocardiography (MCG). The prenatal diagnosis was confirmed by standard electrocardiography (ECG) performed after birth. This is the first case report of fetal long QT syndrome detected by MCG. Fetal MCG may be useful ...

journal_title：Prenatal diagnosis

authors： Hamada H,Horigome H,Asaka M,Shigemitsu S,Mitsui T,Kubo T,Kandori A,Tsukada K

更新日期：1999-07-01 00:00:00

abstract：OBJECTIVE:Multiple transplacental medications can be used to treat fetal tachycardia. We sought to perform a systematic review and meta-analysis to determine whether digoxin, flecainide, or sotalol was the most efficacious therapy for converting fetal tachycardia to sinus rhythm. METHOD:We performed a systematic revie...

journal_title：Prenatal diagnosis

authors： Hill GD,Kovach JR,Saudek DE,Singh AK,Wehrheim K,Frommelt MA

更新日期：2017-11-01 00:00:00

abstract：OBJECTIVE:Fetal myelomeningocele (fMMC) surgery improves infant outcomes when compared with postnatal surgery. Surgical selection criteria and the option of pregnancy termination, however, limit the number of cases that are eligible for prenatal surgery. We aimed to quantify what proportion of cases could ultimately be...

journal_title：Prenatal diagnosis

authors： AlRefai A,Drake J,Kulkarni AV,Connor KL,Shannon P,Toi A,Chitayat D,Blaser S,Church PT,Abbasi N,Ryan G,Van Mieghem T

更新日期：2019-01-01 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：: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：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 a study of 70 cases of trisomy 18 and 450 matched controls in the second trimester we have measured the maternal serum levels of the analytes alpha feto protein (AFP), free beta-human chorionic gonadotrophin (hCG) and pregnancy associated plasma protein-A (PAPP-A). We have found the median multiple of the median (M...

journal_title：Prenatal diagnosis

authors： Spencer K,Crossley JA,Green K,Worthington DJ,Brownbill K,Aitken DA

更新日期：1999-12-01 00:00:00

abstract：OBJECTIVES:To assess the effect of early vaginal bleeding on first-trimester markers for Down syndrome. METHODS:A retrospective study was conducted on 2330 normal singleton fetuses who underwent first-trimester combined screening for Down syndrome based on ultrasound and maternal serum markers. Fetal nuchal translucen...

journal_title：Prenatal diagnosis

authors： De Biasio P,Canini S,Crovo A,Prefumo F,Venturini PL

更新日期：2003-06-01 00:00:00

abstract：:Experimental materno-embryonic transfusions with serum that is immunologically active against blood group antigens cause congenital malformations in the rat embryo. In view of the possible increased incidence of vascular disruptive syndromes after chorionic villus sampling (CVS), we investigated the occurrence of mate...

journal_title：Prenatal diagnosis

authors： Los FJ,Noomen P,Vermeij-Keers C,Gaillard JL,Brandenburg H,Jahoda MG,Luider TM

更新日期：1996-03-01 00:00:00

abstract：:We report on a case of a female fetus found to be mosaic for Turner syndrome (45,X) and trisomy X (47,XXX). Chromosomal microarray analysis (CMA) failed to detect the aneuploidy because of a normal average dosage of the X chromosome. This case represents an unusual instance in which CMA may not detect chromosomal aber...

journal_title：Prenatal diagnosis

authors： Markus-Bustani K,Yaron Y,Goldstein M,Orr-Urtreger A,Ben-Shachar S

更新日期：2012-11-01 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：: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：OBJECTIVES:Screening of fetuses at 11 to 14 weeks of gestation for Down syndrome using stored volumes acquired by a three-dimensional (3D) scanner. METHOD:Thirty-four healthy singleton fetuses were recruited consecutively and prospectively during routine first trimester scans in our unit. Two-dimensional (2D) images o...

journal_title：Prenatal diagnosis

authors： Shaw SW,Hsieh TT,Hsu JJ,Lee CL,Cheng PJ

更新日期：2009-01-01 00:00:00

abstract：OBJECTIVE:To determine the visualization rates of fetal anatomic structures by three-dimensional ultrasound (3DUS) at 12-13 weeks of gestation. STUDY DESIGN:This was a prospective observational study of women presenting for nuchal translucency ultrasound. Five 3D volumes of the fetus were acquired transabdominally. Tw...

journal_title：Prenatal diagnosis

authors： Bhaduri M,Fong K,Toi A,Tomlinson G,Okun N

更新日期：2010-03-01 00:00:00

abstract：:A case of combined partial mole and neural tube defect is presented. The detection of high levels of both maternal serum (MS) alpha-fetoprotein (AFP) and human chorionic gonadotrophin (hCG) during the second trimester led to the ultrasonic demonstration of anencephaly, omphalocele, and partial mole. This is the first ...

journal_title：Prenatal diagnosis

authors： Zalel Y,Weiner E,Zabari A,Shalev E

更新日期：1992-04-01 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：:In order to investigate whether systemic arteriovenous fistula occurring during the fetal period could induce pulmonary hypertension at birth, a fistula was surgically created between the carotid artery and jugular vein of fetal lambs at 120 days' gestation. Mean pressures in the left pulmonary artery, aorta, atrium a...

journal_title：Prenatal diagnosis

authors： Jouannic JM,Martinovic J,Roussin R,Laborde F,Dumez Y,Dinh-Xuan AT

更新日期：2002-01-01 00:00:00

abstract：OBJECTIVE:The objective of this study is to validate the diagnostic accuracy of a non-invasive prenatal test for detecting trisomies 13, 18, and 21 for a population in Germany and Switzerland. METHODS:Random massively parallel sequencing was applied using Illumina sequencing platform HiSeq2000. Fetal aneuploidies were...

journal_title：Prenatal diagnosis

authors： Stumm M,Entezami M,Haug K,Blank C,Wüstemann M,Schulze B,Raabe-Meyer G,Hempel M,Schelling M,Ostermayer E,Langer-Freitag S,Burkhardt T,Zimmermann R,Schleicher T,Weil B,Schöck U,Smerdka P,Grömminger S,Kumar Y,Hofmann W

更新日期：2014-02-01 00:00:00