Dilatation of the supra-pineal recess on prenatal imaging: early clue for obstructive ventriculomegaly downstream of the third ventricle.

abstract：OBJECTIVE:The aim of this study was to assess the performance of cardio-biparietal ratio measured by real-time two-dimensional ultrasound in predicting hemoglobin (Hb) Bart disease among fetuses at risk. METHOD:This prospective diagnostic study recruited pregnancies at risk for Hb Bart disease at 17 to 22 weeks' gesta...

journal_title：Prenatal diagnosis

authors： Traisrisilp K,Sirilert S,Tongsong T

更新日期：2019-07-01 00:00:00

abstract：:Large (>90%) for gestational age (LGA) fetuses are usually identified incidentally. Detection of the LGA fetus should first prompt the provider to rule out incorrect dates and maternal diabetes. Once this is done, consideration should be given to certain overgrowth syndromes, especially if anomalies are present. The o...

journal_title：Prenatal diagnosis

authors： Vora N,Bianchi DW

更新日期：2009-10-01 00:00:00

abstract：:Fetal triploidy is commonly found in early pregnancy. The majority of these pregnancies spontaneously abort in the first trimester. Occasionally, the pregnancy progresses to the second and third trimesters. We reviewed the maternal serum alpha-fetoprotein (MSAFP), amniotic fluid alpha-fetoprotein (AFP), amniotic fluid...

journal_title：Prenatal diagnosis

authors： Pircon RA,Towers CV,Porto M,Gocke SE,Garite TJ

更新日期：1989-10-01 00:00:00

abstract：:A study of the association between aneuploidy and fetal choroid plexus cysts (CPCs) is presented. By reviewing the world prospective and retrospective studies, one cannot reach an agreed conclusion since different study designs were used and meta analysis is not feasible. Our experience is that as a solitary ultrasono...

journal_title：Prenatal diagnosis

authors： Sharony R

更新日期：1997-06-01 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：:We present a case of prenatal diagnosis of Fanconi anaemia (FA) in a pair of twins at 14 weeks of gestation. The parents had previously had two children: a healthy boy and a boy with FA belonging to complementation group C (FAC). The FA patient is a compound heterozygote, carrying a 322delG and a IVS4+4A-->T mutation ...

journal_title：Prenatal diagnosis

authors： Kwee ML,Lo Ten Foe JR,Arwert F,Pals G,Madan K,Nieuwint A,In't Veld PA,Van der Horst AR,Van Vugt JM,Ten Kate LP

更新日期：1996-04-01 00:00:00

abstract：:During the period 1987 through mid-1993, 118 490 chromosome analyses from amniocytes were performed at the Integrated Genetics Laboratories in Santa Fe, New Mexico (formerly Vivigen Laboratories). This report summarizes the data for all specimens submitted because of anomalies seen during ultrasound examination; this ...

journal_title：Prenatal diagnosis

authors： Hanna JS,Neu RL,Lockwood DH

更新日期：1996-02-01 00:00:00

abstract：:Fetal gastroschisis is regarded as a relatively straightforward ultrasound diagnosis. We report two cases of infants born with undiagnosed gastroschisis despite several detailed prenatal assessments following raised serum alphafetoprotein measurements. In both cases, the bowel was healthy with no evidence of long-term...

journal_title：Prenatal diagnosis

authors： Knott PD,Colley NV

更新日期：1987-10-01 00:00:00

abstract：OBJECTIVES:To identify expressed sequence tag (EST) clusters preferentially expressed in placentas. METHODS:The National Center for Biotechnology's online UniGene database contains 14 placenta libraries. In silico (computer-based) subtraction compared placenta libraries against the remaining libraries to identify tran...

journal_title：Prenatal diagnosis

authors： Miner D,Rajkovic A

更新日期：2003-05-01 00:00:00

abstract：OBJECTIVE:The objective of the study was to detect aneuploidy in single fetal nucleated red blood cells (FNRBCs) from placental villi using whole genome amplification (WGA) and next generation sequencing. METHODS:Three single FNRBCs per sample were manually picked from villi collected from ten women undergoing electiv...

journal_title：Prenatal diagnosis

authors： Hua R,Barrett AN,Tan TZ,Huang Z,Mahyuddin AP,Ponnusamy S,Sandhu JS,Ho SS,Chan JK,Chong S,Quan S,Choolani M

更新日期：2015-07-01 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

abstract：:Operator experience is considered to influence the safety and success of medical procedures. We performed a retrospective survey to assess learning curves in chorionic villus sampling (CVS). Data of 2081 consecutive women, in whom CVS was carried out in a tertiary care university hospital for prenatal diagnosis, were ...

journal_title：Prenatal diagnosis

authors： Wijnberger LD,van der Schouw YT,Christiaens GC

更新日期：2000-03-01 00:00:00

abstract：OBJECTIVE:Ethical and counseling challenges are expected with the introduction of prenatal whole exome sequencing. In this study, we describe specific challenges identified through the UNC-Chapel Hill Prenatal Exome Sequencing Study. METHODS:Participants were a subset of women participating in the fetal exome study, w...

journal_title：Prenatal diagnosis

authors： Harris S,Gilmore K,Hardisty E,Lyerly AD,Vora NL

更新日期：2018-11-01 00:00:00

abstract：:The purpose of the present study was to determine the postnatal outcome and prognostic factors of prenatally diagnosed ventriculomegaly, and to establish the relationship between prenatal sonographic measurements and postnatal psychomotor development. A total of 42 singleton pregnancies with sonographically determined...

journal_title：Prenatal diagnosis

authors： den Hollander NS,Vinkesteijn A,Schmitz-van Splunder P,Catsman-Berrevoets CE,Wladimiroff JW

更新日期：1998-06-01 00:00:00

abstract：OBJECTIVE:To report on the occurrence of in utero acquired limb ischemia in two referral institutions managing monochorionic (MC) twins with and without twin-to-twin transfusion syndrome (TTTS) and estimate its prevalence. METHODS:All MC twin pregnancies assessed at two referral units between 2002 and 2007 were retros...

journal_title：Prenatal diagnosis

authors： Lopriore E,Lewi L,Oepkes D,Debeer A,Vandenbussche FP,Deprest J,Walther FJ

更新日期：2008-09-01 00:00:00

abstract：:46,XY,-22,+t(22;22)(p11;q11) or i(22q) was diagnosed in 15/15 cells from two cultures from the amniotic fluid culture of a 31-year-old patient whose fetus demonstrated cystic hygroma on ultrasound. Cytogenetic studies performed on fetal skin from the abortus revealed the same karyotype as that seen on amniocentesis, b...

journal_title：Prenatal diagnosis

authors： Spinner NB,Gibas Z,Kline R,Berger B,Jackson L

更新日期：1992-01-01 00:00:00

abstract：:The effectiveness and costs of prenatal screening programmes for Down's syndrome using maternal serum markers will vary significantly depending on the biological cut-off values chosen in order to select women, at each maternal age, who will be sent for amniocentesis. On the basis of the first French prospective study ...

journal_title：Prenatal diagnosis

authors： Seror V,Muller F,Moatti JP,Le Gales C,Boue A

更新日期：1993-04-01 00:00:00

abstract：BACKGROUND:Prenatal management of abnormal abdominal situs is challenging since prognosis is highly variable depending on the associated malformations. METHODS:The authors report on two cases of ambiguous abdominal situs. Prenatal management included specialized ultrasound examination of fetal anatomy and heart, amnio...

journal_title：Prenatal diagnosis

authors： Salomon LJ,Baumann C,Delezoide AL,Oury JF,Pariente D,Sebag G,Garel C

更新日期：2006-03-01 00:00:00

abstract：:A systematic search was made for uniparental disomy (UPD) in familial or de novo balanced Robertsonian translocations, identified by prenatal cytogenetic investigations. Parent-of-origin studies were performed using molecular markers for both chromosomes involved in the translocation. No UPD cases were identified out ...

journal_title：Prenatal diagnosis

authors： Gualandi F,Sensi A,Trabanelli C,Falciano F,Bonfatti A,Calzolari E

更新日期：2000-06-01 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：:Study of different tissues of an aborted female fetus showed similar levels of fragile-X expression (6.3-9.2 per cent) and of early replication of the FRAXA-positive cells (50-66 per cent) in fetal tissues. Different culture media did not significantly affect either investigation. It is suggested that the distribution...

journal_title：Prenatal diagnosis

authors： Webb T

更新日期：1991-05-01 00:00:00

abstract：:Prenatal diagnosis of Sandhoff disease (infantile onset) at 16 weeks gestation has been made by detection and analysis of N-acetylglucosaminyl-oligosaccharides in amniotic fluid using high performance liquid chromatography. The elution profile for the branched chain oligosaccharides was identical with that obtained wi...

journal_title：Prenatal diagnosis

authors： Warner TG,Turner MW,Toone JR,Applegarth D

更新日期：1986-11-01 00:00:00

abstract：OBJECTIVE:To determine the underlying molecular aetiology in a non-consanguineous Irish family who have had three fetal losses because of a primary myopathy characterised by fetal akinesia, arthrogryposis multiplex, bilateral pulmonary hypoplasia and reduced muscle bulk. METHODS:Fetal DNA extracted from amniotic cells...

journal_title：Prenatal diagnosis

authors： Casey J,Flood K,Ennis S,Doyle E,Farrell M,Lynch SA

更新日期：2016-11-01 00:00:00

abstract：OBJECTIVES:Prenatal diagnosis by ultrasound of fetal polymicrogyria has been reported only once. METHODS:We describe an additional case of polymicrogyria in a fetus from a monozygotic twin pair, probably the consequence of twin-to-twin transfusion syndrome. RESULTS:On ultrasound, there were bilateral cortical hyperec...

journal_title：Prenatal diagnosis

authors： Delle Urban LA,Righini A,Rustico M,Triulzi F,Nicolini U

更新日期：2004-10-01 00:00:00

abstract：OBJECTIVES:To present the prenatal diagnosis of mosaic distal 5p deletion and a review of the literature. CLINICAL SUBJECT AND METHODS:A 37-year-old woman, gravida 2, para 1, underwent genetic amniocentesis at 17 weeks' gestation because of advanced maternal age. Cytogenetic analysis of the cultured amniocytes reveale...

journal_title：Prenatal diagnosis

authors： Chen CP,Lee CC,Chang TY,Town DD,Wang W

更新日期：2004-01-01 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：OBJECTIVE:The aim of this research was to compare the impact of varying degrees of visceral herniation on the growth rates of the contralateral and ipsilateral fetal lungs in cases of isolated left-sided congenital diaphragmatic hernia (CDH). METHODS:Data were retrieved from 58 fetuses with isolated left-sided CDH und...

journal_title：Prenatal diagnosis

authors： Phithakwatchara N,Coleman A,Peiro JL,Lee AE,Keswani SG,Kline-Fath B,Lim FY,Shaaban AF

更新日期：2015-08-01 00:00:00

abstract：:A multiple pregnancy of high rank may occur in a couple at risk for a Mendelian disorder. Prenatal diagnosis is hampered by the difficulty of (1) obtaining chorionic villi from each zygote and (2) unequivocally relating each sample to the corresponding embryo. The calculation of the genetic risk according to the numbe...

journal_title：Prenatal diagnosis

authors： Dumez Y,Dommergues M,Lyonnet S,Tada K,Kaplan J,Mandelbrot L

更新日期：1991-09-01 00:00:00

abstract：:Amniocentesis at 17 weeks' gestation revealed a mosaic karyotype--46,XX/46,XX,-14,+dic(14)(p11). No abnormalities were detected on ultrasound. Growth and placentation were normal. The fetus was examined after termination of pregnancy and micrognathia and pulmonary hyperlobation were the only abnormalities detected. Se...

journal_title：Prenatal diagnosis

authors： Lambert I,Kemp J,Jackson J,Joyce H,Mann S,Kan A,Smith A

更新日期：1994-06-01 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