Detection of genetic abnormalities by using CVS and FISH prior to fetal reduction in sonographically normal appearing fetuses.

abstract：OBJECTIVE:To determine the frequency of diagnostic indications among women seeking to terminate pregnancies for reasons of fetal abnormality, spontaneous fetal demise, or a genetic disorder in a private outpatient clinic specializing in late outpatient abortion procedures. METHOD:A total of 1005 women requested termin...

journal_title：Prenatal diagnosis

authors： Hern WM

更新日期：2014-05-01 00:00:00

abstract：OBJECTIVES:To compare the frequency of abnormal genetic diagnoses spanning a period before and after the availability of chromosomal microarray analysis (CMA). We hypothesised that microarray would provide additional clinically relevant information in cases of isolated hypoplastic nasal bone. METHOD:Fetuses with ultra...

journal_title：Prenatal diagnosis

authors： Gu YZ,Nisbet DL,Reidy KL,Palma-Dias R

更新日期：2019-01-01 00:00:00

abstract：:Autosomal recessive polycystic kidney disease (ARPKD) is a rare hereditary disease with a high neonatal mortality. Currently, prenatal diagnosis is possible only during the second half of pregnancy, when bilaterally enlarged, echogenic kidneys are visible by ultrasound. We describe a case in which a diagnosis of ARPKD...

journal_title：Prenatal diagnosis

authors： Wisser J,Hebisch G,Froster U,Zerres K,Stallmach T,Leumann E,Schinzel A,Huch A

更新日期：1995-09-01 00:00:00

abstract：OBJECTIVE:Genetic carrier screening has the potential to identify couples at risk of having a child affected with an autosomal recessive or X-linked disorder. However, the current prevalence of carrier status for these conditions in developing countries is not well defined. This study assesses the prevalence of carrier...

journal_title：Prenatal diagnosis

authors： Hernandez-Nieto C,Alkon-Meadows T,Lee J,Cacchione T,Iyune-Cojab E,Garza-Galvan M,Luna-Rojas M,Copperman AB,Sandler B

更新日期：2020-04-01 00:00:00

abstract：:We report a liveborn infant with severe intrauterine growth retardation and renal failure, delivered following detection of non-mosaic trisomy 2 by chorionic villus biopsy in the first trimester. Detailed analysis post-delivery indicated apparent complete trisomy 2 of the chorionic tissues, with a chromosomally normal...

journal_title：Prenatal diagnosis

authors： Webb AL,Sturgiss S,Warwicker P,Robson SC,Goodship JA,Wolstenholme J

更新日期：1996-10-01 00:00:00

abstract：:A case of 46,XX/47,XXY mosaicism was diagnosed at 22 gestational weeks by amniocentesis and fetal blood sampling. After genetic counselling, the couple elected to have the pregnancy terminated. Culture of the fetal skin and both gonads confirmed the prenatal diagnosis. In external appearance, the abortus had no remark...

journal_title：Prenatal diagnosis

authors： Cheng WF,Huang SC,Ko TM

更新日期：1995-01-01 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：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：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：OBJECTIVES:Clinical symptoms and ultrasound signs during pregnancy could suggest the presence of esophageal atresia (EA). However, most often EA is diagnosed postnatally. The aim of our study is to evaluate the course and outcome for prenatally and postnatally diagnosed EA. In addition, we studied the outcome of isolat...

journal_title：Prenatal diagnosis

authors： de Jong EM,de Haan MA,Gischler SJ,Hop W,Cohen-Overbeek TE,Bax NM,de Klein A,Tibboel D,Grijseels EW

更新日期：2010-03-01 00:00:00

abstract：:Second trimester amniotic fluid fibrinolytic system was examined in normal pregnancies and those complicated by anencephaly, spina bifida and fetal chromosome abnormalities. No significant difference was demonstrated between the fibrinolytic systems from normal pregnancies and those complicated by fetal chromosome abn...

journal_title：Prenatal diagnosis

authors： Legge M

更新日期：1983-04-01 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：OBJECTIVES:To review the accuracy of self-reporting of smoking status in our first trimester screening population and to assess the levels of pregnancy-associated plasma protein-A (PAPP-A) and free-β human chorionic gonadotropin (free-hCGβ) in women who were classified for smoking status by serum cotinine concentration...

journal_title：Prenatal diagnosis

authors： Spencer K,Cowans NJ

更新日期：2013-03-01 00:00:00

abstract：:Growth of cells from amniotic fluid was studied with respect to cell concentration in the inoculum, blood contamination of the fluid, fluid colour, fluid clarity, gestational age of the pregnancy, and growth factors. Dependent variables measured were colony formation, colony size, and colony morphology after 7, 11, an...

journal_title：Prenatal diagnosis

authors： Seguin LR,Palmer CG

更新日期：1983-04-01 00:00:00

abstract：OBJECTIVE:The aim of this study was to evaluate outcomes for neonates with critical congenital heart disease (CHD) requiring emergent neonatal cardiac intervention (ENCI). METHODS:Neonates < 30 days of age that underwent ENCI at <48 h of age were retrospectively enrolled over a 2-year period. RESULTS:Forty-seven neon...

journal_title：Prenatal diagnosis

authors： Pruetz JD,Carroll C,Trento LU,Chang RK,Detterich J,Miller DA,Sklansky M

更新日期：2014-12-01 00:00:00

abstract：OBJECTIVES:To assess the factors associated with utilization of genetic counseling services among pregnant Israeli Arab women. METHODS:A case-control study was conducted among 414 pregnant Arab women who were referred by a family physician or a perinatologist to genetic counseling services between 2008 and 2011. Data ...

journal_title：Prenatal diagnosis

authors： Sharkia R,Tarabeia J,Zalan A,Atamany E,Athamna M,Allon-Shalev S

更新日期：2015-04-01 00:00:00

abstract：:Urinary tract anomalies are common. Prenatal diagnosis is important and enables either special obstetric management or termination of pregnancy and probably in the future, intrauterine intervention. Transvaginal sonography (TVS) allows visualization of the normal and anomalous fetal urinary tract at an early stage. On...

journal_title：Prenatal diagnosis

authors： Bronshtein M,Yoffe N,Brandes JM,Blumenfeld Z

更新日期：1990-10-01 00:00:00

abstract：OBJECTIVE:To determine the value of a first trimester fetal ultrasound examination in cases of an increased nuchal translucency (NT). METHOD:A detailed fetal ultrasound examination was performed within 4 days of a detection of a first trimester increased NT. RESULTS:As many as 23 fetuses were evaluated. Severe anomal...

journal_title：Prenatal diagnosis

authors： Bronshtein M,Zimmer EZ,Blazer S

更新日期：2008-11-01 00:00:00

abstract：:Reduction in serum requirement for culture of primary human amniotic fluid cells can be achieved by the addition of 10 growth-promoting factors to the nutrient medium. This supplemented medium preserves cell types normally found in amniotic fluid cell cultures supplemented with 20-30 per cent fetal bovine serum. The v...

journal_title：Prenatal diagnosis

authors： Chang HC,Jones OW

更新日期：1985-09-01 00:00:00

abstract：:We present the first confirmed case by molecular analysis of a metaphyseal chondrodysplasia, McKusick type, in a 22-week fetus. Two novel compound heterozygous mutations, 64T> A and 79G > T, were found in the highly conserved regions of the RMRP gene. Twenty-two heterozygous g.1018 T> C mutations, two homozygous g.101...

journal_title：Prenatal diagnosis

authors： Lam AC,Chan DH,Tong TM,Tang MH,Lo SY,Lo IF,Lam ST

更新日期：2006-11-01 00:00:00

abstract：OBJECTIVES:To determine the impact on maternal anxiety of detecting a soft marker, and the association between anxiety and the information given during the scan. METHODS:Routine 20-week fetal anomaly scans were audiotaped in the obstetric ultrasound unit of a London teaching hospital, across a four month study period....

journal_title：Prenatal diagnosis

authors： Watson MS,Hall S,Langford K,Marteau TM

更新日期：2002-07-01 00:00:00

abstract：:We describe the case of a patient with systemic lupus erythematosus, treated by corticosteroids, who presented during two successive pregnancies with serological reactivation of toxoplasmosis associated with fetal lesions. The first infected fetus died in utero with signs of hydrops. The second fetus was treated in ut...

journal_title：Prenatal diagnosis

authors： D'Ercole C,Boubli L,Franck J,Casta M,Harle JR,Chagnon C,Cravello L,Leclaire M,Blanc B

更新日期：1995-12-01 00:00:00

abstract：OBJECTIVE:We examined the psychological responses to termination of pregnancy (TOP) for fetal anomaly from both men and women. The aim was to find risk factors for poor psychological outcome both for the individuals and for the couple. METHODS:A cross-sectional study was performed in 151 couples 2-7 years after TOP. W...

journal_title：Prenatal diagnosis

authors： Korenromp MJ,Page-Christiaens GC,van den Bout J,Mulder EJ,Hunfeld JA,Bilardo CM,Offermans JP,Visser GH

更新日期：2005-12-01 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:Early elective termination of pregnancy is the most common outcome of a diagnosis of anencephaly in developed countries. Experience and expertise with management of ongoing pregnancies is limited. We aimed to investigate the natural history of these pregnancies from diagnosis to delivery and to determine timi...

journal_title：Prenatal diagnosis

authors： Obeidi N,Russell N,Higgins JR,O'Donoghue K

更新日期：2010-04-01 00:00:00

abstract：OBJECTIVE:To evaluate the utility of determining the presence/absence of nasal bone in a low-risk fetal population. METHODS:Prospective study of the presence/absence of nasal bone among 1800 consecutive unselected fetuses, with complete follow-up of results. RESULTS:An adequate sonographic evaluation of nasal bone wa...

journal_title：Prenatal diagnosis

authors： Ramos-Corpas D,Santiago JC,Montoya F

更新日期：2006-02-01 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：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：: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：:Serum specimens were obtained by fetoscopy at 19-25 weeks' gestation from four fetuses whose mothers had had confirmed rubella earlier in pregnancy. They were tested for rubella-specific IgM by antibody capture radioimmunoassay. No specific IgM was detected in one fetus and a healthy infant was delivered at term. Spec...

journal_title：Prenatal diagnosis

authors： Morgan-Capner P,Rodeck CH,Nicolaides KH,Cradock-Watson JE

更新日期：1985-01-01 00:00:00