Patient preferences for screening in the first trimester.

abstract：OBJECTIVE:To compare the referral diagnosis based on prenatal ultrasound to diagnoses made following combined ultrasound (US) and magnetic resonance imaging (MRI) evaluation at the Texas Children's Fetal Center (TCFC) and postnatal diagnosis. METHODS:We performed a retrospective review of patients referred to the TCFC...

journal_title：Prenatal diagnosis

authors： Santos XM,Papanna R,Johnson A,Cass DL,Olutoye OO,Moise KJ Jr,Belleza-Bascon B,Cassady CI

更新日期：2010-05-01 00:00:00

abstract：OBJECTIVE:Pregnant women who receive a high screening risk result for Down, Edwards or Patau syndrome are offered diagnostic tests that carry a risk of miscarriage. This study determined how many women had such tests per syndrome diagnosis. METHOD:The number of tests per Down, Edwards or Patau syndrome diagnosis adjus...

journal_title：Prenatal diagnosis

authors： Morris JK,Waters JJ,de Souza E

更新日期：2012-06-01 00:00:00

abstract：OBJECTIVE:The aim of this study is to evaluate corpus callosum (CC) development by Magnetic Resonance Imaging (MRI) in late-onset intrauterine growth restricted (IUGR) fetuses compared to appropriate for gestational age and its association with neurobehavioral outcome. METHOD:One hundred and seventeen late-onset IUGR ...

journal_title：Prenatal diagnosis

authors： Egaña-Ugrinovic G,Sanz-Cortés M,Couve-Pérez C,Figueras F,Gratacós E

更新日期：2014-09-01 00:00:00

abstract：OBJECTIVE:To present the results of 10 years of quantitative fluorescence PCR (QF-PCR) analysis of prenatal samples for the rapid diagnosis of the common aneuploidies. This represents the largest QF-PCR data set from a single testing centre. METHODS:QF-PCR analysis using a single assay containing 17 microsatellite mar...

journal_title：Prenatal diagnosis

authors： Mann K,Hills A,Donaghue C,Thomas H,Ogilvie CM

更新日期：2012-12-01 00:00:00

abstract：:Most of cystic fibrosis (CF) pre-implantation genetic diagnosis (PGD) cases described to date are limited to the detection of DeltaF508. Beside this predominant mutation, over 1000 mutations have been identified, rendering the development of a mutation-based PGD protocol impracticable. This is the reason why we, as we...

journal_title：Prenatal diagnosis

authors： Moutou C,Gardes N,Viville S

更新日期：2004-07-01 00:00:00

abstract：OBJECTIVES:Our objective is to report long-term outcome after fetal cystoscopy for lower urinary tract obstruction (LUTO), as well as to investigate the accuracy of fetal cystoscopy in diagnosing the cause of bladder outlet obstruction. METHODS:This is a retrospective cohort study of all fetuses who underwent cystosco...

journal_title：Prenatal diagnosis

authors： Sananes N,Cruz-Martinez R,Favre R,Ordorica-Flores R,Moog R,Zaloszy A,Giron AM,Ruano R

更新日期：2016-04-01 00:00:00

abstract：:During an 8-year period (1984-1992), we made the ultrasonographic diagnosis of cystic adenomatoid malformation (CAM) of the lung in 58 fetuses at 17-39 weeks' gestation. We reviewed the records of these fetuses and combined the data from 74 cases reported in the literature to determine the incidence of the different t...

journal_title：Prenatal diagnosis

authors： Thorpe-Beeston JG,Nicolaides KH

更新日期：1994-08-01 00:00:00

abstract：:Two severely growth-retarded fetuses found to have maternal uniparental disomy (UPD) for chromosome 16 and trisomy 16 placental mosaicism both had an unfavourable outcome. Antenatally, the first case was complicated by an unexplained raised maternal serum alpha-fetoprotein concentration, preterm premature rupture of t...

journal_title：Prenatal diagnosis

authors： Vaughan J,Ali Z,Bower S,Bennett P,Chard T,Moore G

更新日期：1994-08-01 00:00:00

abstract：OBJECTIVE:Evaluate patient choices and outcomes following positive cfDNA. METHOD:Retrospective cohort study of women with positive cfDNA through two academic centers between March 2012 and December 2014. Patients were screened based on ACOG indications. Medical records reviewed for counseling, ultrasound findings, dia...

journal_title：Prenatal diagnosis

authors： Dobson LJ,Reiff ES,Little SE,Wilkins-Haug L,Bromley B

更新日期：2016-05-01 00:00:00

abstract：OBJECTIVES:To explore the effect of maternal rhesus status on first-trimester screening markers for Down syndrome. METHODS:We accessed a database of singleton pregnancies undergoing first-trimester genetic screen with maternal Rh status documented and pregnancy outcome information available. Excluded were cases of fet...

journal_title：Prenatal diagnosis

authors： Muhcu M,Mungen E,Atay V,Ipcioglu OM,Dundar O,Ergur R,Yergok YZ

更新日期：2008-05-01 00:00:00

abstract：:The sonographic diagnosis of duodenal atresia and associated anomalies was made in a fetus at 15 weeks' gestation. A transient double-bubble sign was observed in three other normal fetuses. Sonographers are cautioned that normal intestinal peristalsis may cause a false image of duodenal atresia. ...

journal_title：Prenatal diagnosis

authors： Zimmer EZ,Bronshtein M

更新日期：1996-06-01 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：:Trisomy 12 observed in chorionic villus sampling (CVS) may reflect generalized mosaicism or indicate mosaicism confined to only the placenta. In this report, four cases of trisomy 12 observed in CVS or cultured placental biopsies with varying outcomes are presented. Seven dinucleotide repeat polymorphisms for chromoso...

journal_title：Prenatal diagnosis

authors： Bischoff FZ,Zenger-Hain J,Moses D,Van Dyke DL,Shaffer LG

更新日期：1995-11-01 00:00:00

abstract：OBJECTIVES:The sickle gene is prevalent in the scheduled caste and tribal populations in India. The clinical presentation of sickle cell disease is extremely variable, and there are no neonatal screening programmes. This is the first report on prenatal diagnosis of sickle syndromes in 85 couples at risk (sickle cell an...

journal_title：Prenatal diagnosis

authors： Colah R,Surve R,Nadkarni A,Gorakshakar A,Phanasgaonkar S,Satoskar P,Mohanty D

更新日期：2005-05-01 00:00:00

abstract：:The aim of this study was to evaluate the detection of fetal structural abnormalities by the 11-14 week scan. 2853 pregnant women were submitted to a routine ultrasound scan between the 11th and 14th week and the fetal skull, brain, spine, abdominal wall, limbs, stomach and bladder were examined. Following the scans t...

journal_title：Prenatal diagnosis

authors： Carvalho MH,Brizot ML,Lopes LM,Chiba CH,Miyadahira S,Zugaib M

更新日期：2002-01-01 00:00:00

abstract：OBJECTIVES:To get information about embryologic mechanisms of neural tube defects (NTD), by studying the associated malformations. METHODS:Eighty three cases of NTD, seen at the prenatal diagnosis unit of Rennes University Hospital (France) between May 1999 and December 2002, were retrospectively studied. Cases with c...

journal_title：Prenatal diagnosis

authors： Cabaret AS,Loget P,Loeuillet L,Odent S,Poulain P

更新日期：2007-08-01 00:00:00

abstract：:Nine hundred and thirty-six prenatal chromosomal analyses were performed by four cytogenetic centres after ultrasound diagnosis of fetal abnormalities, amniotic fluid disorders, fetal growth retardation, and fetal or placental abnormalities. During the same period, 6515 fetal karyotypes were analysed because of matern...

journal_title：Prenatal diagnosis

authors： Eydoux P,Choiset A,Le Porrier N,Thépot F,Szpiro-Tapia S,Alliet J,Ramond S,Viel JF,Gautier E,Morichon N

更新日期：1989-04-01 00:00:00

abstract：OBJECTIVE:To assess the value of biomagnetic recordings of the umbilical artery over Doppler ultrasound screening in order to predict complications of impaired uteroplacental blood flow in fetuses with intrauterine growth restriction (IUGR). METHODS:Our study population included 11 IUGR preeclamptic (34-37-weeks gesta...

journal_title：Prenatal diagnosis

authors： Kotini A,Avgidou K,Koutlaki N,Sigalas J,Anninos P,Anastasiadis P

更新日期：2003-04-01 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：:Maternal contamination of fetal DNA represents a major problem when highly sensitive molecular techniques are used in the prenatal diagnosis of genetic diseases. For this reason, we have studied the possibility of using DNA isolated from syncytiotrophoblast vesicles as a target of gene amplification (PCR). Three PCR s...

journal_title：Prenatal diagnosis

authors： Colucci G,Pesenti E,Molteni E,Lobbiani A,De Andreis C,Pariani S,Rossella F,Semprini AE,Simoni G

更新日期：1993-05-01 00:00:00

abstract：BACKGROUND:Multiplex ligation-dependent probe amplification (MLPA) is a relatively new method for rapid prenatal diagnosis of common aneuploidies, and larger series to evaluate its performance remain to be reported. METHODS:A total of 2400 prenatal chorionic villus samples (CVS) and 1525 prenatal samples of amniotic f...

journal_title：Prenatal diagnosis

authors： Gerdes T,Kirchhoff M,Lind AM,Vestergaard Larsen G,Kjaergaard S

更新日期：2008-12-01 00:00:00

abstract：OBJECTIVE:Evaluation of combined test in pregnant women 35 years of age and over to detect fetal Down syndrome. MATERIALS AND METHODS:The study population included 408 pregnant women of 35 years and over, who requested the combined test (nuchal translucency, PAPP-A, free beta hCG, maternal age, cut-off 1:250) before d...

journal_title：Prenatal diagnosis

authors： Centini G,Rosignoli L,Scarinci R,Faldini E,Morra C,Centini G,Petraglia F

更新日期：2005-02-01 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：: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：OBJECTIVES:To evaluate the screening accuracy for Down syndrome of nuchal translucency (NT) measurement at different crown-rump length (CRL) subgroups along the 10- to 14-week period. METHODS:NT was classified 'enlarged' if greater than or equal to 1.5 and 2.0 multiples of the regressed median. Accuracies for Down syn...

journal_title：Prenatal diagnosis

authors： Zoppi MA,Ibba RM,Floris M,Manca F,Axiana C,Monni G

更新日期：2005-05-01 00:00:00

abstract：OBJECTIVE:To examine the cost and performance implications of introducing cell-free fetal DNA (cffDNA) testing within modeled scenarios in a publicly funded Canadian provincial Down syndrome (DS) prenatal screening program. METHOD:Two clinical algorithms were created: the first to represent the current screening progr...

journal_title：Prenatal diagnosis

authors： Okun N,Teitelbaum M,Huang T,Dewa CS,Hoch JS

更新日期：2014-04-01 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：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：BACKGROUND:An initial study of trisomy 21 cases showed that prior to 10 weeks, maternal serum levels of intact hCG in the early first trimester are lower than normal. Here we further study the levels prior to and after 10 weeks of gestation to further establish whether or not the intact hCG is effective as a very early...

journal_title：Prenatal diagnosis

authors： Spencer K,Cowans NJ,Uldbjerg N,Vereecken A,Tørring N

更新日期：2008-12-01 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