Prenatal ultrasound diagnosis of Toriello-Carey syndrome.

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：OBJECTIVE:To report the outcome of transient abnormal cardiac flow patterns (ABCFP) at 13 to 17 weeks' gestation. METHODS AND RESULTS:Observational single operator study of transvaginal sonography scans of 13,183 fetuses. Of the 22 fetuses with ABCFP (1:600) high pulmonary valvular velocity was detected in 11 (8 of th...

journal_title：Prenatal diagnosis

authors： Bronshtein M,Zimmer EZ,Blazer S,Blumenfeld Z

更新日期：2012-05-01 00:00:00

abstract：OBJECTIVE:Cell-free DNA (cfDNA) screening for aneuploidy was clinically introduced in 2011. We aim to focus on the follow-up information from a single tertiary center undergoing genome-wide cfDNA screening to evaluate this technology. METHOD:A total of 32 431 cases were retrospectively reviewed. The screening was perf...

journal_title：Prenatal diagnosis

authors： Liang D,Lin Y,Qiao F,Li H,Wang Y,Zhang J,Liu A,Ji X,Ma D,Jiang T,Hu P,Xu Z

更新日期：2018-09-01 00:00:00

abstract：OBJECTIVES:Smith Lemli Opitz syndrome (SLOS) caused by a deficit of 3beta-hydroxysterol-Delta7 reductase was the first sterol deficit described with multiple malformations. The lack of specificity of many morphological abnormalities detected by ultrasound and their frequency have justified routine screening of amniotic...

journal_title：Prenatal diagnosis

authors： Chevy F,Humbert L,Wolf C

更新日期：2005-11-01 00:00:00

abstract：:Of the 65 328 pregnancies of South Australian mothers screened by the South Australian Maternal Serum Antenatal Screening (SAMSAS) Programme between 1 January 1991 and 31 December 1997, 3431 (5.25%) were declared at increased risk of fetal Down syndrome. Fetal or neonatal karyotype was determined in 2737/3431 (79.8%) ...

journal_title：Prenatal diagnosis

authors： Ryall RG,Callen D,Cocciolone R,Duvnjak A,Esca R,Frantzis N,Gjerde EM,Haan EA,Hocking T,Sutherland G,Thomas DW,Webb F

更新日期：2001-07-01 00:00:00

abstract：:The cloning of the RHD gene has made it possible to determine the RhD status of fetuses at risk for haemolytic disease due to RhD iso-immunization using amniotic fluid or chorionic villi-derived DNA and the polymerase chain reaction. However, some Rh haplotypes are associated with false-positive or negative DNA-based ...

journal_title：Prenatal diagnosis

authors： Denomme GA,Akoury H,Sermer M,Kelton JG

更新日期：1999-05-01 00:00:00

abstract：OBJECTIVE:To prospectively study the addition of array comparative genomic hybridization (CGH) to the prenatal evaluation of fetal structural anomalies. METHODS:Pregnant women carrying fetuses with a major structural abnormality were recruited at the time of invasive procedure for chromosome analysis. Only women whose...

journal_title：Prenatal diagnosis

authors： Kleeman L,Bianchi DW,Shaffer LG,Rorem E,Cowan J,Craigo SD,Tighiouart H,Wilkins-Haug LE

更新日期：2009-12-01 00:00:00

abstract：:Twins concordant for elevated alpha-fetoprotein (AFP) and acetylcholinesterase (AChE) and discordant for neural tube defect (NTD) and sex are reported. A literature review reveals instances of termination of twin pregnancies with one normal and one abnormal fetus, partly based on concordant high AFP and positive AChE ...

journal_title：Prenatal diagnosis

authors： Johnson VP,Vidgoff J,Wilson N,Madison D

更新日期：1989-12-01 00:00:00

abstract：OBJECTIVE:Fetal cells cross the feto-maternal barrier and circulate in maternal peripheral blood; thus, this study aimed to show the relationship between clinical evidence in pregnancy and qualitative feto-maternal barrier changes. METHODS:The expression of fetal hemoglobin gamma chain messenger RNA (HbF-gamma mRNA) w...

journal_title：Prenatal diagnosis

authors： Okuda T,Kinoshita Y,Tamura T,Kato C,Kojima H,Watanabe A,Honjo H

更新日期：2004-11-01 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: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：:Fetal choroid plexuses have attracted the attention of perinatologists and geneticists because of the reported association between intrachoroid cysts and chromosomal abnormalities. This report deals with another variation in choroid plexus sonographic appearance-size variation. Sonographic follow-up results as well as...

journal_title：Prenatal diagnosis

authors： Petrikovsky BM,Kaplan GP

更新日期：1996-07-01 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：: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：:To evaluate the potential utility of free beta (hCG) and beta-core (hCG) in a prenatal screening protocol for Down syndrome we analysed these markers in dried maternal urine specimens from 163 control, 13 Down syndrome and 5 trisomy 18 pregnancies from 8 to 25 weeks' gestation. All results are reported after normaliza...

journal_title：Prenatal diagnosis

authors： Hallahan TW,Krantz DA,Tului L,Alberti E,Buchanan PD,Orlandi F,Klein V,Larsen JW Jr,Macri JN

更新日期：1998-09-01 00:00:00

abstract：OBJECTIVE:To estimate the utility of maternal serum ADAM12 as a Down's syndrome marker. METHODS:Samples from 71 Down's syndrome affected pregnancies were retrieved from - 20 degrees C storage together with 710 controls matched for gestation and storage time. ADAM12 was measured prior to identification of the affected ...

journal_title：Prenatal diagnosis

authors： Donalson K,Turner S,Wastell H,Cuckle H

更新日期：2008-10-01 00:00:00

abstract：OBJECTIVE:The purpose of this paper is to provide an overview of the 47, XXY syndrome, which is the most commonly occurring X and Y chromosomal variation. This paper seeks to review what is currently known of noninvasive prenatal testing (NIPT) and 47, XXY and investigate potential risks and benefits of prenatal identi...

journal_title：Prenatal diagnosis

authors： Samango-Sprouse C,Keen C,Sadeghin T,Gropman A

更新日期：2017-05-01 00:00:00

abstract：:Fetal pleural effusion, a nonspecific accumulation of fluid in the pleural space, is an uncommon anomaly which can be associated with aneuploidy and a range of other structural malformations or genetic syndromes. Spontaneous resolution is not rare and confers a good prognosis. Perinatal outcome is better for those fet...

journal_title：Prenatal diagnosis

authors： Rustico MA,Lanna M,Coviello D,Smoleniec J,Nicolini U

更新日期：2007-09-01 00:00:00

abstract：OBJECTIVE:The aim of this study is to evaluate whether the measurement of the frontal space (FS) improves first trimester combined aneuploidy screening. METHODS:We have presented a retrospective study including 2D images of the nuchal translucency measurement of 300 euploid and 133 trisomic fetuses that were seen at t...

journal_title：Prenatal diagnosis

authors： Yazdi B,Riefler P,Fischmüller K,Sonek J,Hoopmann M,Kagan KO

更新日期：2013-12-01 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：:We report our experience of 14 preimplantation genetic diagnosis (PGD) cycles in eight couples carrying five different single gene disorders, during the last 18 months. Diagnoses were performed for myotonic dystrophy (DM), cystic fibrosis (CF) [Delta F508 and exon 4 (621+1 G>T)], fragile X and CF simultaneously, and t...

journal_title：Prenatal diagnosis

authors： Harper JC,Wells D,Piyamongkol W,Abou-Sleiman P,Apessos A,Ioulianos A,Davis M,Doshi A,Serhal P,Ranieri M,Rodeck C,Delhanty JD

更新日期：2002-06-01 00:00:00

abstract：:Twenty-eight young people with thalassemia major expressed their opinion about prenatal diagnosis. All of them stated that they intended to marry and have children; thirteen of them (46 per cent) said that they would have also accepted a thalassemic carrier as a partner and that if married to a carrier they would have...

journal_title：Prenatal diagnosis

authors： Schilirò G,Romeo MA,Mollica F

更新日期：1988-03-01 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：:Based on the presence of immature cells in fetal blood, and in an attempt to shorten the cytogenetic reporting time, three simultaneous one-day culture regimes were established in 23 fetal blood samples: (a) the standard phytohemagglutinin (PHA)-stimulated lymphocytes culture, (b) a culture using the granulocyte-macro...

journal_title：Prenatal diagnosis

authors： Costa D,Borrell A,Jou JM,Besón I,Soler A,Carrió A,Margarit E,Caballín R,Ballesta F,Fortuny A

更新日期：1999-01-01 00:00:00

abstract：:We present a prenatal case with a 45,X,dic(Y;15) (q11.23;p11.1) karyotype and describe the inheritance pattern of the chromosome 15s. Chromosome 15 has an imprinted region and inheritance of both chromosome 15 from one parent results in either Angelman syndrome (AS) (paternal inheritance) or Prader Willi syndrome (PWS...

journal_title：Prenatal diagnosis

authors： White LM,Treat K,Leff A,Styers D,Mitchell M,Knoll JH

更新日期：1998-02-01 00:00:00

abstract：:Authors of policy statements from the American College of Obstetricians and Gynecologists and from the Society for Maternal-Fetal Medicine do not acknowledge the potential for their clinical income to influence their opinions, or the positions of the societies they represent. These policy statements were published in ...

journal_title：Prenatal diagnosis

authors： Wolfberg AJ

更新日期：2018-02-01 00:00:00

abstract：:Genetic disease is the leading cause of infant death in the United States, accounting for approximately 20% of annual infant mortality. Advances in genomic medicine and technological platforms have made possible low cost, pan-ethnic expanded genetic screening that enables obstetric care providers to offer screening fo...

journal_title：Prenatal diagnosis

authors： Nazareth SB,Lazarin GA,Goldberg JD

更新日期：2015-10-01 00:00:00

abstract：:Coelocentesis was performed in 20 singleton pregnancies at 6-10 weeks of gestation and 2-13 days before planned termination. The control group consisted of 100 women who were also undergoing planned termination and were matched with the study group for maternal age and gestation. During the follow-up period, there wer...

journal_title：Prenatal diagnosis

authors： Ross JA,Jurkovic D,Nicolaides K

更新日期：1997-10-01 00:00:00

abstract：:The purpose of this study was to measure anxiety in pregnant women who had low maternal serum alpha-fetoprotein (MSAFP) screening test levels, received genetic counselling and chose to undergo amniocentesis for fetal chromosome analysis. Their anxiety levels were compared with the levels in women undergoing amniocente...

journal_title：Prenatal diagnosis

authors： Abuelo DN,Hopmann MR,Barsel-Bowers G,Goldstein A

更新日期：1991-06-01 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