Predicting postnatal renal function of prenatally detected posterior urethral valves using fetal diffusion-weighted magnetic resonance imaging with apparent diffusion coefficient determination.

abstract：OBJECTIVE:Fetal myelomeningocele (fMMC) surgery improves infant outcomes when compared with postnatal surgery. Surgical selection criteria and the option of pregnancy termination, however, limit the number of cases that are eligible for prenatal surgery. We aimed to quantify what proportion of cases could ultimately be...

journal_title：Prenatal diagnosis

authors： AlRefai A,Drake J,Kulkarni AV,Connor KL,Shannon P,Toi A,Chitayat D,Blaser S,Church PT,Abbasi N,Ryan G,Van Mieghem T

更新日期：2019-01-01 00:00:00

abstract：OBJECTIVE:The aim of this study was to quantify glycosaminoglycans (GAGs) in amniotic fluid (AF) from an MPS VII fetus compared with age-matched fetuses obtained from normal pregnancies. METHOD:Disaccharides were measured by liquid chromatography tandem mass spectrometry, compared to age-matched controls. Enzyme assay...

journal_title：Prenatal diagnosis

authors： Kubaski F,Brusius-Facchin AC,Mason RW,Patel P,Burin MG,Michelin-Tirelli K,Kessler RG,Bender F,Leistner-Segal S,Moreno CA,Cavalcanti DP,Giugliani R,Tomatsu S

更新日期：2017-05-01 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：OBJECTIVE:The objective of this study is to combine multiplex ligation-dependent probe amplification (MLPA) and bisulfite sequencing to determine DNA methylation markers for noninvasive prenatal diagnosis of Down syndrome. METHODS:DNA methylation ratios (MR) of four fragments (CGI149, CGI045, HLCS-1, and HLCS-2) on ch...

journal_title：Prenatal diagnosis

authors： Yin YZ,She Q,Zhang J,Zhang PZ,Zhang Y,Lin JW,Ye YC

更新日期：2014-01-01 00:00:00

abstract：OBJECTIVE:To test the hypothesis that the age-related increase in the birth prevalence of Down syndrome is less for women with higher levels of education due to their more frequent use of prenatal diagnosis. METHODS:We compared the effects of maternal age on the odds of Down syndrome at birth, and on amniocentesis use...

journal_title：Prenatal diagnosis

authors： Khoshnood B,Wall S,Pryde P,Lee KS

更新日期：2004-02-01 00:00:00

abstract：OBJECTIVE:This study aimed to detect genomic imbalances in fetuses with congenital heart defect (CHD) by high-resolution single-nucleotide polymorphism (SNP) array. METHODS:A total of 99 fetuses with CHDs with or without other ultrasound anomalies (including structural anomalies and soft markers) but normal karyotypes...

journal_title：Prenatal diagnosis

authors： Liao C,Li R,Fu F,Xie G,Zhang Y,Pan M,Li J,Li D

更新日期：2014-09-01 00:00:00

abstract：OBJECTIVE:To determine the completion rate of ultrasound surveys for aneuploidy markers by maternal body mass index (BMI). METHODS:A retrospective review of ultrasounds on midtrimester singleton pregnancies was performed. Subjects were grouped as normal, overweight (BMI 25-29.9 kg/m(2)), and obese: class I (30-34.9 kg...

journal_title：Prenatal diagnosis

authors： Tsai LJ,Ho M,Pressman EK,Thornburg LL

更新日期：2010-09-01 00:00:00

abstract：:Our laboratory has received 1375 early amniotic fluid (EA) specimens during the past 5-year period for cytogenetics analysis. The gestational ages of the EA specimens were less than 14 weeks as estimated by ultrasound. The average volume of specimen received was 16 ml. Specimens were typically received in two collecti...

journal_title：Prenatal diagnosis

authors： Lockwood DH,Neu RL

更新日期：1993-09-01 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：:We report a case of prenatal ultrasound diagnosis of frontonasal dysplasia. This represents a very rare disorder involving the face (hypertelorism, median cleft lip, absence of the nasal tip) and often the central nervous system (CNS) (cranium bifidum occultum, ethmoidal cephalocele, agenesis of the corpus callosum). ...

journal_title：Prenatal diagnosis

authors： Martinelli P,Russo R,Agangi A,Paladini D

更新日期：2002-05-01 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：: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：OBJECTIVE:The FASTER trial compared first and second trimester screening methods for aneuploidy. We examined relationships between maternal serum markers and common congenital anomalies in the pediatric outcome data set of 36 837 subjects. METHODS:We used nested case-control studies, with cases defined by the most com...

journal_title：Prenatal diagnosis

authors： Hoffman JD,Bianchi DW,Sullivan LM,Mackinnon BL,Collins J,Malone FD,Porter TF,Nyberg DA,Comstock CH,Bukowski R,Berkowitz RL,Gross SJ,Dugoff L,Craigo SD,Timor-Tritsch IE,Carr SR,Wolfe HM,D'Alton ME

更新日期：2008-12-01 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：: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 and neonatal alloimmune thrombocytopenia (FNAIT) is a potentially devastating condition, which may lead to intracranial haemorrhage (ICH) in the fetus or neonate, often with death or major neurological damage as consequence. In the absence of screening, preventive measures are only possible in the next pregnancy...

journal_title：Prenatal diagnosis

authors： Kamphuis MM,Oepkes D

更新日期：2011-07-01 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：:A 17-year-old woman was referred for amniocentesis due to a low maternal serum alpha-fetoprotein (AFP) concentration in a voluntary screening test. The fetal karyotype was 48,XXYY, and the pregnancy was terminated. Autopsy of the fetus disclosed agenesis of the corpus callosum and unusual facial features. ...

journal_title：Prenatal diagnosis

authors： Nyberg RH,Karhu R,Karikoski R,Simola KO

更新日期：1994-07-01 00:00:00

abstract：:The presence of two independent translocations in one person is rare. Herein, we report the prenatal diagnosis of two sibling fetuses with holoprosencephaly, whose father is a carrier of double translocations. The karyotype of the father is 46,XY, t(1;7) (q32;q32), t(14,15) (q32.1;q26.3). The two fetuses had variable ...

journal_title：Prenatal diagnosis

authors： Chuang L,Kuo PL,Yang HB,Chien CH,Chen PY,Chang CH,Chang FM

更新日期：2003-02-01 00:00:00

abstract：:We present the prenatal ultrasound findings in a case of hydrolethalus. This case illustrates ongoing problems in differentiating hydrolethalus, both pre- and postnatally, from other midline malformation syndromes including Pallister-Hall, Smith-Lemli-Opitz, pseudo-trisomy 13, oral facial-digital syndrome, and Meckel ...

journal_title：Prenatal diagnosis

authors： Norgard M,Yankowitz J,Rhead W,Kanis AB,Hall BD

更新日期：1996-02-01 00:00:00

abstract：OBJECTIVE:The objective of this study was to determine the association of copy number variants (CNV) with perinatal outcomes among fetuses with sonographic abnormalities. METHODS:This was a retrospective cohort study of anomalous fetuses evaluated at a single fetal center, who underwent chromosomal microarray (CMA) te...

journal_title：Prenatal diagnosis

authors： Parchem JG,Sparks TN,Gosnell K,Norton ME

更新日期：2018-01-01 00:00:00

abstract：:Urine is a new medium for Down syndrome testing. In an effort to determine the best type of human chorionic gonadotropin (hCG)-related immunoassay for urine testing, we examined 14 Down syndrome and 91 unaffected pregnancy urine samples with 12 established assays. The assays included (a) those that detect hCG beta-cor...

journal_title：Prenatal diagnosis

authors： Cole LA,Kellner LH,Isozaki T,Palomaki GE,Iles RK,Walker RP,Ozaki M,Canick JA

更新日期：1997-07-01 00:00:00

abstract：:We present a case of congenital listeriosis in a twin pregnancy. Presentation was prompted by decreased fetal movements and an ultrasound examination which demonstrated features similar to those observed in an adult with inflammatory conditions of the bowel, namely, small amounts of ascites, dilated loops of bowel and...

journal_title：Prenatal diagnosis

authors： Quinlivan JA,Newnham JP,Dickinson JE

更新日期：1998-10-01 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：:The prenatal sonographic findings in two children with Aicardi syndrome are reported. ...

journal_title：Prenatal diagnosis

authors： Bromley B,Krishnamoorthy KS,Benacerraf BR

更新日期：2000-04-01 00:00:00

abstract：OBJECTIVES:To assess the incidence of sex chromosome aneuploidy (SCA) predicted by noninvasive prenatal testing (NIPT), assess test performance, and compare it with nuchal translucency (NT) screening among patients seen in our prenatal diagnosis center. METHODS:We identified suspected cases of SCA by reviewing results...

journal_title：Prenatal diagnosis

authors： Reiss RE,Discenza M,Foster J,Dobson L,Wilkins-Haug L

更新日期：2017-05-01 00:00:00

abstract：OBJECTIVE:To identify the correlation between the renal vascularization index (VI), the flow index (FI) and the vascularization and flow index (VFI) and placental and fetal hemodynamics in fetuses with growth restriction. METHOD:Bidimensional ultrasound and three-dimensional power Doppler with the VOCAL technique were...

journal_title：Prenatal diagnosis

authors： Doro GF,Senra JC,Rodrigues AS,Miyadahira S,Ribeiro RL,Francisco RPV,Bernardes LS

更新日期：2017-08-01 00:00:00

abstract：BACKGROUND:Despite the large impact of ultrasonographic and biochemical markers on prenatal screening, the ability to accurately diagnose Down syndrome (DS) is still limited and better diagnostic testing is needed. METHODS:Plasma from 8 women carrying a DS foetus and 12 with non-DS foetuses matched for gestational age...

journal_title：Prenatal diagnosis

authors： Kolialexi A,Tsangaris GT,Papantoniou N,Anagnostopoulos AK,Vougas K,Bagiokos V,Antsaklis A,Mavrou A

更新日期：2008-08-01 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：:Six cases are reported with discrepancies between the karyotypes of placental cells and cells from other fetal tissue. The respective findings were: 48, + 7, + 18 resp. 47, + 18. 46,i(18q) resp. 46,del18(p11). 46,XX resp. 46,XX/47,XXX. 46,X,Yq+ and 46,XY resp. 46,XY. 46/47, + 12 resp. 46. 46/47, + 5 resp. 46. These di...

journal_title：Prenatal diagnosis

authors： Verjaal M,Leschot NJ,Wolf H,Treffers PE

更新日期：1987-06-01 00:00:00