Ultrasound features of congenital listeriosis--a case report.

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：OBJECTIVE:A common concern of utilizing prenatal advanced genetic testing is that a result of uncertain clinical significance will increase patient anxiety. However, prenatal ultrasound may also yield findings of uncertain significance, such as 'soft markers' for fetal aneuploidy, or findings with variable prognosis, s...

journal_title：Prenatal diagnosis

authors： Richards EG,Sangi-Haghpeykar H,McGuire AL,Van den Veyver IB,Fruhman G

更新日期：2015-12-01 00:00:00

abstract：:The significance of trisomy 20 mosaicism in cultured amniotic fluid cells is still confusing. We report a case of amniotic cell normal/trisomy 20 mosaicism diagnosed prenatally. The pregnancy was carried to term and a normal baby girl was delivered. The authors consider that in cases of amniotic fluid cell normal/tris...

journal_title：Prenatal diagnosis

authors： Bösze P,László J,Tóth A

更新日期：1982-07-01 00:00:00

abstract：OBJECTIVE:This study explores the underlying values and beliefs that guide women's reasoning on prenatal genetic test (PGT) uptake, as framed by their own words, during a group discussion, in a Catholic country such as Italy. METHODS:Women's reasoning was explored by means of five focus group consisting of seven pregn...

journal_title：Prenatal diagnosis

authors： Pivetti M,Montali L,Simonetti G

更新日期：2012-12-01 00:00:00

abstract：OBJECTIVES:Fetal face malformations represent one of the most challenging prenatal diagnoses mainly because of the wide range of morphological features involved. We tested an approach based on a combination of conventional two-dimensional ultrasound with the more recent three-dimensional technique plus magnetic resonan...

journal_title：Prenatal diagnosis

authors： Rustico MA,Lalatta F,Righini A,Spaccini L,Fabietti I,Nicolini U

更新日期：2004-07-01 00:00:00

abstract：BACKGROUND:Posterior fossa abnormalities (PFAs) are commonly identified within routine screening and are a frequent indication for fetal magnetic resonance imaging (MRI). Although biometric measurements of the posterior fossa (PF) are established on fetal ultrasound and MRI, qualitative visual assessments are predomina...

journal_title：Prenatal diagnosis

authors： Mckinnon K,Kendall GS,Tann CJ,Dyet L,Sokolska M,Baruteau KP,Marlow N,Robertson NJ,Peebles D,Srinivasan L

更新日期：2020-11-29 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：:Amniocentesis and subsequent tests are reported on a fetus conceived of a rare mating type: its mother has an intermediate level of beta hexosaminidase A (HEX A), characteristic of carriers of Tay-Sachs disease (TSD), while the father suffers from an adult-onset GM2 gangliosidosis (AOG) with severe HEX A deficiency. A...

journal_title：Prenatal diagnosis

authors： Navon R,Sandbank U,Frisch A,Baram D,Adam A

更新日期：1986-05-01 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：OBJECTIVES:Fetal aortic valvuloplasty (FAV) for severe aortic stenosis (AS) has shown promise in averting progression to hypoplastic left heart syndrome. After FAV, predicting which fetuses will achieve a biventricular (BiV) circulation after birth remains challenging. Identifying predictors of postnatal circulation on...

journal_title：Prenatal diagnosis

authors： Beattie MJ,Friedman KG,Sleeper LA,Lu M,Drogosz M,Callahan R,Marshall AC,Prosnitz AR,Lafranchi T,Benson CB,Wilkins-Haug LE,Tworetzky W

更新日期：2021-01-18 00:00:00

abstract：OBJECTIVE:This study aimed to detect genomic imbalances in fetuses with congenital heart defect (CHD) by high-resolution single-nucleotide polymorphism (SNP) array. METHODS:A total of 99 fetuses with CHDs with or without other ultrasound anomalies (including structural anomalies and soft markers) but normal karyotypes...

journal_title：Prenatal diagnosis

authors： Liao C,Li R,Fu F,Xie G,Zhang Y,Pan M,Li J,Li D

更新日期：2014-09-01 00:00:00

abstract：:The objective was to describe the development, characteristics, and initial use of an instrument for assessing knowledge about maternal serum screening (MSS). Items for a knowledge scale were selected based on a review of educational materials, the literature, and expert opinion. Items were pre-tested for comprehensib...

journal_title：Prenatal diagnosis

authors： Goel V,Glazier R,Holzapfel S,Pugh P,Summers A

更新日期：1996-05-01 00:00:00

abstract：OBJECTIVE:To present a series of cases with a sonographic thick and heterogeneous placenta, and to review the literature. METHODS:A series of 16 cases were analyzed. A heterogeneous placenta was defined as a thick placenta with a patchy decrease of echogenicity, which quivered like jelly to sharp abdominal pressure. A...

journal_title：Prenatal diagnosis

authors： Raio L,Ghezzi F,Cromi A,Nelle M,Dürig P,Schneider H

更新日期：2004-03-01 00:00:00

abstract：:Prenatal diagnosis of pyruvate carboxylase (PC) deficiency was performed in a family at risk for the acute neonatal form of this disease which manifests secondary citrullinemia. The diagnosis of an affected child was confirmed by enzyme assay and 3H-biotin labelling of proteins in cultured fetal skin fibroblasts. Suff...

journal_title：Prenatal diagnosis

authors： Robinson BH,Toone JR,Benedict RP,Dimmick JE,Oei J,Applegarth DA

更新日期：1985-01-01 00:00:00

abstract：OBJECTIVE:To validate Illumina's two-channel NextSeq 500 sequencing system for noninvasive prenatal testing (NIPT) of fetal whole chromosome and partial aberrations. METHODS:A total of 162 plasma samples, previously sequenced for NIPT on a SOLiD 5500xl platform, were sequenced on the NextSeq 500 using 75-bp single-end...

journal_title：Prenatal diagnosis

authors： Neveling K,Tjwan Thung D,Beulen L,van Rens-Buijsman W,Gomes I,van den Heuvel S,Mieloo H,Derks-Prinsen I,Kater-Baats E,Faas BH

更新日期：2016-03-01 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 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:The aim of this study is to evaluate the diagnostic utility of prenatal diagnosis using the chromosomal microarray analysis (CMA) for fetuses presenting with isolated or associated intrauterine growth restriction (IUGR). METHOD:We retrospectively included all fetuses with IUGR referred for prenatal testing a...

journal_title：Prenatal diagnosis

authors： Brun S,Pennamen P,Mattuizzi A,Coatleven F,Vuillaume ML,Lacombe D,Arveiler B,Toutain J,Rooryck C

更新日期：2018-12-01 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：OBJECTIVES:To describe the epidemiology and outcomes of sacrococcygeal teratoma (SCT) and identify the factors affecting prognosis in a population-based cohort. METHODS:Analyses of fetal SCTs from a population-based congenital anomaly register between 1995 and 2012, linked to regional datasets. A systematic literature...

journal_title：Prenatal diagnosis

authors： Ayed A,Tonks AM,Lander A,Kilby MD

更新日期：2015-11-01 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：OBJECTIVES:Polyhydramnios is suggested to be associated with oral clefts (OCs) due to swallowing problems. This study assessed incidence and outcome of idiopathic polyhydramnios in isolated OC pregnancies. METHODS:This was a retrospective cohort study of prenatally diagnosed OC. The incidence of idiopathic polyhydramn...

journal_title：Prenatal diagnosis

authors： Depla AL,Breugem CC,van der Horst CM,de Heus R,van den Boogaard MH,Maas SM,Pajkrt E,Bekker MN

更新日期：2017-02-01 00:00:00

abstract：OBJECTIVES:We present a case of early prenatal diagnosis of recurrent 46,XY partial gonadal dysgenesis, by combining early genetic and sonographic evaluations. METHODS:The conceptus of a mother with a first child affected by 46,XY gonadal dysgenesis was sonographically evaluated at 21- and 23-mm BPD (12(+2) and 12(+6)...

journal_title：Prenatal diagnosis

authors： Mazza V,Ottolenghi C,Di Monte I,Baldassari F,Rivasi F,Volpe A,Forabosco A

更新日期：2003-09-01 00:00:00

abstract：OBJECTIVE:To determine normal blood flow velocities across the fetal tricuspid valve (TV) at 11-13 weeks and 6 days of gestation and to examine the reproducibility of these measurements. METHODS:A prospective study involving 166 normal singleton pregnancies examined at 11-13 weeks and 6 days was carried out. Descripti...

journal_title：Prenatal diagnosis

authors： Ninno MA,Liao AW,Lamberty CO,Miguelez J,Zugaib M

更新日期：2010-08-01 00:00:00

abstract：OBJECTIVE:To conduct an audit of the practice of feticide in second- and third-trimester termination of pregnancy for fetal anomalies (TOPFA) in prenatal diagnosis (PD) centers in France. RESULTS:A questionnaire was sent out to the 49 French PD centers and completed by 39/49 centers; 5350 TOPFAs were performed. The ge...

journal_title：Prenatal diagnosis

authors： Maurice P,Letourneau A,Benachi A,Jouannic JM

更新日期：2019-12-01 00:00:00

abstract：OBJECTIVE:Outcomes from in vitro fertilization (IVF)/intrauterine insemination (ICSI) cycles for patients who underwent preimplantation genetic testing for monogenic/single gene (PGT-M) and structural chromosome rearrangements (PGT-SR) patients were reviewed. Patients pursuing PGT-M and PGT-SR often do not have pre-exi...

journal_title：Prenatal diagnosis

authors： Butler R,Nakhuda G,Guimond C,Jing C,Lee N,Hitkari J,Tallon N,Taylor B,Yuzpe A

更新日期：2019-09-01 00:00:00

abstract：:A mosaic chromosome complement, 46,XY/47,XY,+r(15), was detected at prenatal diagnosis. Family studies showed the mother and one of her two children to have a bisatellited supernumerary marker chromosome (SMC) in all lymphocytes examined. The maternal grandfather also showed a bisatellited SMC, but in only 2 per cent ...

journal_title：Prenatal diagnosis

authors： Adhvaryu SG,Peters-Brown T,Livingston E,Qumsiyeh MB

更新日期：1998-02-01 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：:Twin pregnancy has a disproportionate effect on perinatal mortality, being six times higher than for singleton gestations. The major threats to perinatal survival are from two very different pathological processes: spontaneous preterm delivery, and the interlacing clinical complications of monochorionicity. With the r...

journal_title：Prenatal diagnosis

authors： Bajoria R,Kingdom J

更新日期：1997-12-01 00:00:00

abstract：:The sister of a child affected by Duchenne muscular dystrophy (DMD) was referred for genetic counselling to assess the risk of her being a carrier. Her brother had died 15 years previously at the age of 8. There were no other affected males in the family. There were no methods for DNA investigation at the time of the ...

journal_title：Prenatal diagnosis

authors： Restagno G,Ferrone M,Doriguzzi C,Palmucci L,Mongini T,Carbonara A

更新日期：1995-07-01 00:00:00