Transabdominal chorionic villus sampling in the second and third trimesters of high-risk pregnancies.

abstract：:Sex chromosome aneuploidy (SCA), when detected in amniocentesis, is usually an unexpected result of a test carried out for another purpose. For most SCAs, the prognosis is milder and less predictable than trisomy 21, and therefore parents are faced with a difficult decision regarding the option of pregnancy terminatio...

journal_title：Prenatal diagnosis

authors： Sagi M,Meiner V,Reshef N,Dagan J,Zlotogora J

更新日期：2001-06-01 00:00:00

abstract：OBJECTIVE:To determine the ability to assess the fetal anatomy and ultrasound screening markers using three-dimensional (3D) volumes acquired during the 11th to 13th  week scan, in relation to whether a fetal profile could be used as a starting section. METHODS:Post hoc analysis of 3D ultrasound volumes acquired at 11...

journal_title：Prenatal diagnosis

authors： Borrell A,Santolaya-Forgas J,Horbaczewski C,Henry RD,Dunn-Albanese L,Robinson JN

更新日期：2011-12-01 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：:Arthrogryposis multiplex congenita (AMC) refers to an aetiologically heterogenous condition, which consists of joint contractures affecting two or more joints starting prenatally. The incidence is approximately one in 3000 live births; however, the prenatal incidence is higher, indicating a high intrauterine mortality...

journal_title：Prenatal diagnosis

authors： Niles KM,Blaser S,Shannon P,Chitayat D

更新日期：2019-08-01 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：:Although congenital mesoblastic nephroma (CMN) is a rare benign congenital renal tumor, it is the most common solid renal tumor in the newborn period. The most common presentation of congenital mesoblastic nephroma is polyhydramnios, and only one case with prenatal fetal hydrops has been previously reported. Prenatal ...

journal_title：Prenatal diagnosis

authors： Chen WY,Lin CN,Chao CS,Yan-Sheng Lin M,Mak CW,Chuang SS,Tzeng CC,Huang KF

更新日期：2003-11-01 00:00:00

abstract：OBJECTIVES:The present study investigated linear, area, and volume measurements of human brain samples according to Carnegie stages (CS) in an attempt to select suitable morphometric features that reflect embryonic development. METHODS:Using magnetic resonance imaging, we measured seven linear segments, three separate...

journal_title：Prenatal diagnosis

authors： Kobayashi A,Ishizu K,Yamada S,Uwabe C,Kose K,Takakuwa T

更新日期：2016-04-01 00:00:00

abstract：:We present the first report of prenatally diagnosed Dandy-Walker malformation with the karyotype of partial trisomy 11 and 22 due to familial translocation t(11;22)(q23;q11) inherited in three generations. We demonstrate that the Dandy-Walker malformation can be an associated congenital malformation of supernumerary d...

journal_title：Prenatal diagnosis

authors： Chen CP,Liu FF,Jan SW,Yang YC,Lan CC

更新日期：1996-12-01 00:00:00

abstract：:The cytogenetic results of 1500 chorionic villus samples (CVS) are presented. In these 1500 samples, 23 samples (1.5 per cent) could not be provided with a diagnosis because of laboratory failure. This failure rate dropped from 3 per cent in the first 500 samples to 0.2 per cent in the last 500. In the remaining 1477 ...

journal_title：Prenatal diagnosis

authors： Breed AS,Mantingh A,Beekhuis JR,Kloosterman MD,ten Bolscher H,Anders GJ

更新日期：1990-02-01 00:00:00

abstract：:In order to elucidate the consistency between generally used age-dependent risk values for Down syndrome (DS) and estimates of the probability of miscarriage in Down pregnancies we have compared expected numbers with estimated numbers of births with DS in Denmark had no intervention at all been carried out. The expect...

journal_title：Prenatal diagnosis

authors： Larsen SO,Hansen J,Pedersen BN

更新日期：2001-08-01 00:00:00

abstract：OBJECTIVE:To investigate the existence of a relationship between maternal body mass, maternal ethnicity and maternal smoking status and nuchal translucency (NT) in the first trimester of pregnancy. METHODS:NT measurements from 130 339 euploid, singleton pregnancies were converted to NT multiples of the median (MoM) an...

journal_title：Prenatal diagnosis

authors： Cowans NJ,Spencer K

更新日期：2011-05-01 00:00:00

abstract：:FISH analysis of uncultured interphase amniotic fluid cells from a male fetus revealed two signals using an alpha-satellite X-chromosome DNA probe. One of the signals was much smaller than the other. It was subsequently shown that the normal sized signal was located on the X chromosome and the smaller signal was locat...

journal_title：Prenatal diagnosis

authors： Winsor EJ,Dyack S,Wood-Burgess EM,Ryan G

更新日期：1999-09-01 00:00:00

abstract：BACKGROUND:The use of preimplantation genetic diagnosis (PGD) to select genetically 'normal' human embryos and to transfer them to the uterus of a woman has generated considerable controversy. Debate has occurred over the implications of PGD, sex selection, safety of embryonic manipulation and eugenics. This study eval...

journal_title：Prenatal diagnosis

authors： Katz MG,Fitzgerald L,Bankier A,Savulescu J,Cram DS

更新日期：2002-12-01 00:00:00

abstract：:Toriello-Carey syndrome is a rare malformative complex, described for the first time in 1988, characterized by agenesis of the corpus callosum, facial anomalies, cardiac defects and hypotonia. Relatively few neonatal cases have been reported. We describe here the first prenatal ultrasound diagnosis of the syndrome bas...

journal_title：Prenatal diagnosis

authors： Paladini D,Russo MG,Tartaglione A,Loffredo A,Martinelli P

更新日期：2002-12-01 00:00:00

abstract：:Enteric duplication cyst is a congenital abnormality that is believed to arise from abnormal recanalization of the bowel during embryogenesis. Previous reports suggest that the condition may be suspected prenatally by sonographic demonstration of an intra-abdominal cystic mass in the second and third trimesters. We pr...

journal_title：Prenatal diagnosis

authors： Chen M,Lam YH,Lin CL,Chan KW,Hui PW,Tang MH,Lee CP,Khong PL

更新日期：2002-12-01 00:00:00

abstract：:A case is reported of a male fetus at risk of X-linked adrenoleucodystrophy who showed a normal cultured chorionic villus cell very long chain fatty acid (VLCFA) profile but at birth exhibited grossly abnormal plasma and cultured fibroblast VLCFAs. Maternal contamination or a sample mix-up was excluded by chromosome a...

journal_title：Prenatal diagnosis

authors： Gray RG,Green A,Cole T,Davidson V,Giles M,Schutgens RB,Wanders RJ

更新日期：1995-05-01 00:00:00

abstract：:The articles collected together in this issue describe first-trimester screening for a variety of complications. With the advance of both technology and research, early pregnancy screening is becoming ever more sophisticated and complex. While there are clear benefits to most women receiving early reassurance that the...

journal_title：Prenatal diagnosis

authors： Fisher J

更新日期：2011-01-01 00:00:00

abstract：:Fetal karyotypes can be routinely obtained by chorionic villus biopsy, amniocentesis, or fetal blood sampling. Interpretation of results and subsequent counselling can be complicated by pseudomosaicism or mosaicism confined to the placenta or other tissues. We illustrate this by reporting a case of an abnormal fetus w...

journal_title：Prenatal diagnosis

authors： Smoleniec JS,Davies T,Lunt P,Berry PJ,James D

更新日期：1993-03-01 00:00:00

abstract：:Retinoblastoma susceptibility is an autosomal dominantly inherited cancer predisposition which also confers a life-long increased risk for various non-ocular malignancies. We developed a protocol for single cell detection of this disorder which enables its preimplantation genetic diagnosis as an alternative to prenata...

journal_title：Prenatal diagnosis

authors： Sütterlin M,Sleiman PA,Onadim Z,Delhanty J

更新日期：1999-12-01 00:00:00

abstract：:We report the first prenatal diagnosis of an affected fetus with Chediak-Higashi syndrome (CHS). Diagnosis was accomplished via fetal blood sampling at 17 menstrual weeks and was confirmed after birth. Retrospective measurement of the largest acid phosphatase-positive lysosomes in cultured amniotic fluid cells and cho...

journal_title：Prenatal diagnosis

authors： Diukman R,Tanigawara S,Cowan MJ,Golbus MS

更新日期：1992-11-01 00:00:00

abstract：OBJECTIVES:To determine if the ultrasound marker Nuchal Index (NIx) is gestational age independent, and to determine its specificity and sensitivity for Down syndrome (DS) identification. METHODS:Prospective cohort. A prospective database of fetal biometry and soft markers of aneuploidy was searched for fetuses with t...

journal_title：Prenatal diagnosis

authors： Lim KI,Pugash D,Dansereau J,Wilson RD

更新日期：2002-12-01 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：OBJECTIVES:To describe women's preferences for prenatal testing outcomes and to explore their association with sociodemographic characteristics and attitudes. METHODS:We conducted a cross-sectional study of 584 racially/ethnically and socioeconomically diverse pregnant women aged 16 to 47 years recruited from 23 San F...

journal_title：Prenatal diagnosis

authors： Kuppermann M,Nease RF Jr,Gates E,Learman LA,Blumberg B,Gildengorin V,Washington AE

更新日期：2004-06-01 00:00:00

abstract：:We report a case of nuchal cystic hygroma with spontaneous resolution detected by ultrasound examination at 13 weeks' gestation. Fetal karyotype and amniotic fluid alpha-fetoprotein levels were normal. Extreme caution in evaluating this situation is stressed. ...

journal_title：Prenatal diagnosis

authors： Baccichetti C,Lenzini E,Suma V,Benini F,Marini A

更新日期：1990-06-01 00:00:00

abstract：OBJECTIVES:To evaluate the diagnostic yield of noninvasive prenatal diagnosis (NIPD) for FGFR3-related skeletal dysplasias and assess the accuracy of referrals based on sonographic findings to inform guidelines for referral. METHODS:We retrospectively reviewed laboratory and referral records from 2012 to 2018 to ascer...

journal_title：Prenatal diagnosis

authors： Mellis R,Chandler N,Jenkins L,Chitty LS

更新日期：2020-06-01 00:00:00

abstract：OBJECTIVE:The objective of this article is to evaluate the utility of fetal lung mass imaging for predicting neonatal respiratory distress. METHOD:Pregnancies with fetal lung masses between 2009 and 2014 at a single center were analyzed. Neonatal respiratory distress was defined as intubation and mechanical ventilatio...

journal_title：Prenatal diagnosis

authors： Girsen AI,Hintz SR,Sammour R,Naqvi A,El-Sayed YY,Sherwin K,Davis AS,Chock VY,Barth RA,Rubesova E,Sylvester KG,Chitkara R,Blumenfeld YJ

更新日期：2017-03-01 00:00:00

abstract：:A 45-year-old woman underwent serial ultrasound screening procedures during late first and second trimesters of pregnancy for advanced maternal age. Cultured amniocytes karyotype indicated full trisomy 21. Subsequently, the fetus developed congenital cataract diagnosed at 24 weeks. This is the first antenatal diagnosi...

journal_title：Prenatal diagnosis

authors： Romain M,Awoust J,Dugauquier C,Van Maldergem L

更新日期：1999-08-01 00:00:00

abstract：:Distal 10q trisomy is a well-defined but rare syndrome. Most cases are diagnosed in infancy or in childhood and rarely include prenatal findings. We present a case of fetal distal 10q trisomy with abnormal prenatal sonographic findings. A 19-year-old primigravida was referred for genetic counselling at 18 gestational ...

journal_title：Prenatal diagnosis

authors： Chen CP,Shih JC,Lee CC,Chen LF,Wang W,Wang TY

更新日期：1999-09-01 00:00:00

abstract：:We have developed a two-colour immunocytochemical staining method for the detection of fetal and embryonic haemoglobin in erythroid cells. The method was applied to study these haemoglobin types in fetal red cells. Specimens from fetal blood (10 weeks), cord blood and fetal liver (14 weeks) as well as chorionic villus...

journal_title：Prenatal diagnosis

authors： Mesker WE,Ouwerkerk-van Velzen MC,Oosterwijk JC,Bernini LF,Golbus MS,Kanhai HH,Van Ommen GJ,Tanke HJ

更新日期：1998-11-01 00:00:00

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