Perinatal outcomes of fetal echogenic bowel.

abstract：OBJECTIVE:The objective of this study was to evaluate the accuracy of fetal diffusion-weighted magnetic resonance imaging with apparent diffusion coefficient (ADC) determination to predict postnatal renal function (nadir creatinine at 1 year and eGFR) of men with posterior urethral valves (PUV). METHODS:Between 2003 a...

journal_title：Prenatal diagnosis

authors： Faure A,Panait N,Panuel M,Alessandrini P,D'Ercole C,Chaumoitre K,Merrot T

更新日期：2017-07-01 00:00:00

abstract：:Fourteen cases of Turner syndrome (45,X), two cases of mosaic Turner syndrome (45,X/47,XXX and 45,X/ 46,XX), and one case of Turner syndrome involving an isochromosome X [46,X,i(X)(q10)] were ascertained by prenatal maternal serum alpha-fetoprotein (MSAFP) and free beta human chorionic gonadotropin (hCG) screening or ...

journal_title：Prenatal diagnosis

authors： Laundon CH,Spencer K,Macri JN,Anderson RW,Buchanan PD

更新日期：1996-09-01 00:00:00

abstract：:Stickler syndrome is an autosomal dominant disorder of the connective tissue which includes ocular and systemic manifestations. We report on a large kindred in which we were able to demonstrate very tight linkage between the disease and the type II collagen gene (COL2A1) (LOD score 3.91 at theta = 0). In a family in w...

journal_title：Prenatal diagnosis

authors： Zlotogora J,Granat M,Knowlton RG

更新日期：1994-02-01 00:00:00

abstract：BACKGROUND:Fetal cells in maternal blood still present an enticing alternative for the development of a safe and efficacious non-invasive method for prenatal diagnosis. However, most enrichment methods are very tedious and have failed to realise this long sought after goal. We developed a simple, robust TaqMan real-tim...

journal_title：Prenatal diagnosis

authors： Zhong XY,Holzgreve W,Hahn S

更新日期：2006-09-01 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：OBJECTIVE:To evaluate the association between ultrasonographic renal parameters and urine biochemistry in fetuses with lower urinary tract obstruction (LUTO). METHODS:Data were collected prospectively from 31 consecutive fetuses with LUTO that underwent vesicocentesis for fetal urinary biochemistry between April 2013 ...

journal_title：Prenatal diagnosis

authors： Nassr AA,Koh CK,Shamshirsaz AA,Espinoza J,Sangi-Haghpeykar H,Sharhan D,Welty S,Angelo J,Roth D,Belfort MA,Braun M,Ruano R

更新日期：2016-12-01 00:00:00

abstract：:A method is described to combine the ultrasound marker nuchal translucency (NT) with serum markers so that they can be used together in prenatal screening for Down syndrome in twin pregnancies. For monochorionic twin pregnancies (taken as monozygous), the two fetus-specific NT measurements are averaged before risk is ...

journal_title：Prenatal diagnosis

authors： Wald NJ,Rish S,Hackshaw AK

更新日期：2003-07-01 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：OBJECTIVE:To assess whether existing weight correction formulas for PAPP-A and free-beta-hCG developed for weeks 11 to 14 can be applied to pregnancies in weeks 8 to 10. METHODS:Development of formulas based on limited data sets of 8- to 10-week pregnancies and comparison with existing formulas. Calculation of median ...

journal_title：Prenatal diagnosis

authors： Sørensen T,Larsen SO,Christiansen M

更新日期：2005-06-01 00:00:00

abstract：:Despite efforts at prevention through the use of preconception folic acid, spina bifida remains one of the most common congenital anomalies of the central nervous system that is compatible with life. It is, however, associated with a significant degree of lifelong morbidity. The development of open fetal surgery for m...

journal_title：Prenatal diagnosis

authors： Bebbington MW,Danzer E,Johnson MP,Adzick NS

更新日期：2011-07-01 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：:Prenatal diagnosis of cord defects by means of ultrasound examination is possible and highly accurate. Although this is a rare pathological finding, we report two cases in which umbilical cord pseudocysts were associated with trisomy 18. These observations underscore the need of umbilical blood sampling for establishi...

journal_title：Prenatal diagnosis

authors： Jauniaux E,Donner C,Thomas C,Francotte J,Rodesch F,Avni FE

更新日期：1988-10-01 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：OBJECTIVES:To determine the recurrence risk of a free trisomy 21 pregnancy. METHODS:Data from the National Down Syndrome Cytogenetic Register (NDSCR), which contains information on nearly all cases of Down syndrome between 1989 and 2001 in England and Wales were used. Among 11 281 women with a Down syndrome pregnancy ...

journal_title：Prenatal diagnosis

authors： Morris JK,Mutton DE,Alberman E

更新日期：2005-12-01 00:00:00

abstract：:The goal of the current paper is to present, on the basis of six investigated fetal hearts, the pathological substrate of prenatally, sonographically diagnosed echogenic intramyocardial foci. The right ventricle, left ventricle, interventricular septum and papillary muscles of both ventricles of six hearts of the fetu...

journal_title：Prenatal diagnosis

authors： Tennstedt C,Chaoui R,Vogel M,Göldner B,Dietel M

更新日期：2000-04-01 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:This study introduces a novel method, referred to as SeqFF, for estimating the fetal DNA fraction in the plasma of pregnant women and to infer the underlying mechanism that allows for such statistical modeling. METHODS:Autosomal regional read counts from whole-genome massively parallel single-end sequencing ...

journal_title：Prenatal diagnosis

authors： Kim SK,Hannum G,Geis J,Tynan J,Hogg G,Zhao C,Jensen TJ,Mazloom AR,Oeth P,Ehrich M,van den Boom D,Deciu C

更新日期：2015-08-01 00:00:00

abstract：OBJECTIVE:The objective of the study is to assess the clinical application of noninvasive prenatal testing (NIPT) for VTS pregnancies after the treatment of assisted reproductive technology (ART). METHOD:This was a retrospective study on VTS pregnancies through ART treatment. Participants underwent NIPT at 11 to 13 we...

journal_title：Prenatal diagnosis

authors： Zou Y,Cui L,Xue M,Yan J,Huang M,Gao M,Gao X,Gao Y,Chen ZJ

更新日期：2020-10-02 00:00:00

abstract：OBJECTIVE:Fetal cells cross the feto-maternal barrier and circulate in maternal peripheral blood; thus, this study aimed to show the relationship between clinical evidence in pregnancy and qualitative feto-maternal barrier changes. METHODS:The expression of fetal hemoglobin gamma chain messenger RNA (HbF-gamma mRNA) w...

journal_title：Prenatal diagnosis

authors： Okuda T,Kinoshita Y,Tamura T,Kato C,Kojima H,Watanabe A,Honjo H

更新日期：2004-11-01 00:00:00

abstract：:A 37-year-old gravida was referred for CVS because of advanced maternal age. A trisomy 21 was present in all cells after short-term incubation (direct processing (DP)) and long-term culture. According to our policy, a retap was offered for confirmation of the result during the legally required 3-day waiting period bet...

journal_title：Prenatal diagnosis

authors： Hammer P,Holzgreve W,Karabacak Z,Horst J,Miny P

更新日期：1991-02-01 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：OBJECTIVES:To assess the effect of altering image size on the absolute nuchal translucency (NT) measurement. METHODS:NT was measured at three image magnifications (60%, 100% and 200%) in 120 singleton pregnancies. RESULTS:The mean +/- SD NT measurements were 1.52 +/- 0.57 mm, 1.35 +/- 0.53 mm and 1.18 +/- 0.48 mm at ...

journal_title：Prenatal diagnosis

authors： Edwards A,Mulvey S,Wallace EM

更新日期：2003-04-01 00:00:00

abstract：OBJECTIVE:To evaluate the population parameters applied to the calculation of risk for Down syndrome (DS) in the first trimester screening (FTS) and the comparison of performance obtained including or excluding maternal age from the mathematical algorithm. METHODS:Three different calculation engines for prenatal risk ...

journal_title：Prenatal diagnosis

authors： Martínez-Morillo E,García BP,Calvo FM,Alvarez FV

更新日期：2012-03-01 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：:We describe the detection of congenital long QT syndrome in a fetus at 37 weeks' gestation using magnetocardiography (MCG). The prenatal diagnosis was confirmed by standard electrocardiography (ECG) performed after birth. This is the first case report of fetal long QT syndrome detected by MCG. Fetal MCG may be useful ...

journal_title：Prenatal diagnosis

authors： Hamada H,Horigome H,Asaka M,Shigemitsu S,Mitsui T,Kubo T,Kandori A,Tsukada K

更新日期：1999-07-01 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：:Current debates about sex selection start from a paradox: on the one hand, the 'liberal' argument in favour of sex selection is often thought to be sound; but on the other hand there is widespread public opposition to sex selection. So it is worth spending some time examining the arguments against sex selection. Four ...

journal_title：Prenatal diagnosis

authors： Baldwin T

更新日期：2006-07-01 00:00:00

abstract：:Enlargement of the subarachnoid spaces can be seen in the following conditions: communicating hydrocephalus, brain atrophy and benign enlargement of the subarachnoid spaces. These disorders may begin in utero. There are no established normograms for the fetal subarachnoid spaces. This study was conducted in order to d...

journal_title：Prenatal diagnosis

authors： Malinger G,Lerman-Sagie T,Achiron R,Lipitz S

更新日期：2000-11-01 00:00:00

abstract：:We report the first molecular prenatal diagnosis of 3-hydroxy-3-methylglutaryl CoA lyase (HL) deficiency. The proband had a classic but severe presentation with hypoketotic hypoglycaemia and acidosis, secondary mental retardation, and epilepsy, and HL deficiency was documented in cultured fibroblasts. We found him to ...

journal_title：Prenatal diagnosis

authors： Mitchell GA,Jakobs C,Gibson KM,Robert MF,Burlina A,Dionisi-Vici C,Dallaire L

更新日期：1995-08-01 00:00:00

abstract：:Respiratory chain deficiency (RCD) is responsible for a clinically heterogeneous group of early-onset untreatable disorders. Enzymological prenatal diagnosis (PD) can only be offered to a fraction of families. Moreover, due to the two-fold genetic origin of the respiratory chain (nuclear and mitochondrial DNA) and owi...

journal_title：Prenatal diagnosis

authors： Amiel J,Gigarel N,Benacki A,Benit P,Valnot I,Parfait B,Von Kleist-Retzow JC,Raclin V,Hadj-Rabia S,Dumez Y,Rustin P,Bonnefont JP,Munnich A,Rötig A

更新日期：2001-07-01 00:00:00