Molecular characterisation of a prenatally diagnosed 5q15q21.3 deletion and review of the literature.

abstract：OBJECTIVES:The prenatal detection rate of congenital heart disease (CHD) is low compared with other fetal malformations. Our aim was to evaluate the prenatal detection of CHD in Eastern Denmark. METHODS:Fetuses and infants diagnosed with CHD in the period 01.01.2008-31.12.2010 were assessed regarding prenatal detectio...

journal_title：Prenatal diagnosis

authors： Jørgensen DE,Vejlstrup N,Jørgensen C,Maroun LL,Steensberg J,Hessellund A,Jørgensen FS,Larsen T,Shalmi AC,Skibsted L,Zingenberg H,Ekelund C,Tabor A

更新日期：2015-04-01 00:00:00

abstract：:A complex chromosome rearrangement, apparently a balanced translocation involving chromosomes 4, 6, 15 and 16, was found in cultured cells of amniotic fluid from a 32-year-old primigravida who requested amniocentesis for prenatal diagnosis because of a family history of mental retardation. Chromosome analysis of perip...

journal_title：Prenatal diagnosis

authors： Kim HJ,Perle MA,Bogosian V,Greco A

更新日期：1986-05-01 00:00:00

abstract：OBJECTIVE:To investigate perinatal outcomes of fetal echogenic bowel (FEB). METHOD:This is a retrospective observational study of FEB cases from Jan 2005-Dec 2010. Data from ultrasound and fetal medicine investigations, uterine artery Doppler (UAD), intra-partum care and neonatal outcome were obtained from Fetal Medic...

journal_title：Prenatal diagnosis

authors： Saha E,Mullins EW,Paramasivam G,Kumar S,Lakasing L

更新日期：2012-08-01 00:00:00

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：:Although no precise figures are available, many congenital brain lesions arise from intrauterine disruption, frequently due to obstetric complications. The most common entities include intracranial hemorrhage, ischemic lesions, thrombosis of venous vessels and infections. Accurate prenatal diagnosis is possible in man...

journal_title：Prenatal diagnosis

authors： Carletti A,Colleoni GG,Perolo A,Simonazzi G,Ghi T,Rizzo N,Pilu G

更新日期：2009-04-01 00:00:00

abstract：OBJECTIVE:To test the hypothesis that free fetal DNA (ffDNA) circulating in maternal plasma originates mainly from the placenta we studied ffDNA levels in anembryonic pregnancies. METHODS:Maternal blood samples were collected from 15 normal first-trimester pregnancies in which fetal sex was subsequently determined and...

journal_title：Prenatal diagnosis

authors： Alberry M,Maddocks D,Jones M,Abdel Hadi M,Abdel-Fattah S,Avent N,Soothill PW

更新日期：2007-05-01 00:00:00

abstract：:In 3 fetuses affected by congenital chloride diarrhoea there were characteristic prenatal ultrasonic findings. In all cases the fetal abdominal cavity was filled with distended loops of fetal intestine, the fetal stomach was of normal size and polyhydramnios was present. The prenatal ultrasonic findings in this metabo...

journal_title：Prenatal diagnosis

authors： Kirkinen P,Jouppila P

更新日期：1984-11-01 00:00:00

abstract：OBJECTIVE:The aim of this article is to assess the predictive value of second trimester mean uterine artery Doppler pulsatility index (mUtA PI) for pregnancy complications in women with systemic lupus erythematosus (SLE). METHODS:Cohort study of consecutive pregnancies complicated with SLE during a period of 12 years ...

journal_title：Prenatal diagnosis

authors： Pagani G,Reggia R,Andreoli L,Prefumo F,Zatti S,Lojacono A,Tincani A,Frusca T

更新日期：2015-05-01 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

abstract：OBJECTIVE:Low levels of maternal serum pregnancy associated plasma protein-A (PAPP-A) have been linked to chromosome anomalies such as trisomy 21, 13 and 18, triploidy and sex chromosome aneuploidy. Low levels of PAPP-A have also been implicated in spontaneous miscarriage. The purpose of this study was to evaluate whet...

journal_title：Prenatal diagnosis

authors： Yaron Y,Heifetz S,Ochshorn Y,Lehavi O,Orr-Urtreger A

更新日期：2002-09-01 00:00:00

abstract：OBJECTIVE:Maternal serum pregnancy-associated plasma protein-A (PAPP-A) and free beta-human chorionic gonadotrophin (beta-hCG) are useful markers in the screening of Down syndrome in the first trimester. We investigated the effect of intracytoplasmic sperm injection (ICSI), freezing and thawing of embryos on the levels...

journal_title：Prenatal diagnosis

authors： Hui PW,Lam YH,Tang MH,NG EH,Yeung WS,Ho PC

更新日期：2005-05-01 00:00:00

abstract：:Eight pregnancies at risk for cystic fibrosis have been monitored by first-trimester prenatal diagnosis with DNA amplification analysis. The polymerase chain reaction (PCR) was used in all cases to amplify the region detected by KM19. In two cases, the region detected by CS.7, another DNA probe tightly linked to the C...

journal_title：Prenatal diagnosis

authors： Gasparini P,Novelli G,Savoia A,Dallapiccola B,Pignatti PF

更新日期：1989-05-01 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：:The cloning of the RHD gene has made it possible to determine the RhD status of fetuses at risk for haemolytic disease due to RhD iso-immunization using amniotic fluid or chorionic villi-derived DNA and the polymerase chain reaction. However, some Rh haplotypes are associated with false-positive or negative DNA-based ...

journal_title：Prenatal diagnosis

authors： Denomme GA,Akoury H,Sermer M,Kelton JG

更新日期：1999-05-01 00:00:00

abstract：:A single base substitution in exon 10 of the glucocerebrosidase gene was detected in families affected by Gaucher disease (GD) type III. This mutation, which results in the substitution of proline for leucine in position 444 of glucocerebrosidase, has been shown to result in type III GD in a Swedish population. Three ...

journal_title：Prenatal diagnosis

authors： Dahl N,Wadelius C,Annerén G,Gustavson KH

更新日期：1992-07-01 00:00:00

abstract：OBJECTIVE:The objective of this article is to evaluate the longitudinal changes in uterine artery Doppler pulsatility index (UtA-PI) in pregnancies complicated with early onset intrauterine growth restriction (IUGR). METHOD:Case-control study comparing UtA-PI from 20 to 34 weeks gestation in pregnancies affected by IU...

journal_title：Prenatal diagnosis

authors： Contro E,Cha DH,De Maggio I,Ismail SY,Falcone V,Gabrielli S,Farina A

更新日期：2014-12-01 00:00:00

abstract：BACKGROUND:Prenatal management of abnormal abdominal situs is challenging since prognosis is highly variable depending on the associated malformations. METHODS:The authors report on two cases of ambiguous abdominal situs. Prenatal management included specialized ultrasound examination of fetal anatomy and heart, amnio...

journal_title：Prenatal diagnosis

authors： Salomon LJ,Baumann C,Delezoide AL,Oury JF,Pariente D,Sebag G,Garel C

更新日期：2006-03-01 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：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：:We report on a case of a female fetus found to be mosaic for Turner syndrome (45,X) and trisomy X (47,XXX). Chromosomal microarray analysis (CMA) failed to detect the aneuploidy because of a normal average dosage of the X chromosome. This case represents an unusual instance in which CMA may not detect chromosomal aber...

journal_title：Prenatal diagnosis

authors： Markus-Bustani K,Yaron Y,Goldstein M,Orr-Urtreger A,Ben-Shachar S

更新日期：2012-11-01 00:00:00

abstract：OBJECTIVES:The purpose of this study was to compare prenatal versus postnatal markers of congenital diaphragmatic hernia (CDH) severity at a single fetal-care center. METHODS:A retrospective study was performed of patients having a complete prenatal evaluation and surgical repair (n = 55). Observed-to-expected lung-to...

journal_title：Prenatal diagnosis

authors： Werner NL,Coughlin M,Kunisaki SM,Hirschl R,Ladino-Torres M,Berman D,Kreutzman J,Mychaliska GB

更新日期：2016-02-01 00:00:00

abstract：:A multiple pregnancy of high rank may occur in a couple at risk for a Mendelian disorder. Prenatal diagnosis is hampered by the difficulty of (1) obtaining chorionic villi from each zygote and (2) unequivocally relating each sample to the corresponding embryo. The calculation of the genetic risk according to the numbe...

journal_title：Prenatal diagnosis

authors： Dumez Y,Dommergues M,Lyonnet S,Tada K,Kaplan J,Mandelbrot L

更新日期：1991-09-01 00:00:00

abstract：OBJECTIVE:Placental cytogenetic studies may reveal the origin of discordant noninvasive prenatal testing (NIPT). We performed placental studies to elucidate discordances between NIPT showing a structural chromosome aberration and the fetus having a different chromosome aberration in three cases. METHOD:Diagnostic test...

journal_title：Prenatal diagnosis

authors： Van Opstal D,van Veen S,Joosten M,Diderich KEM,Govaerts LCP,Polak J,van Koetsveld N,Boter M,Go ATJI,Papatsonis DNM,Prinsen K,Hoefsloot LH,Srebniak MI

更新日期：2019-10-01 00:00:00

abstract：:Consanguineous partners had a boy with campomelic dysplasia who died of increasing respiratory distress soon after birth. The next pregnancy was monitored frequently by ultrasonography and a healthy male infant was born at term. During a further pregnancy, ultrasonography suggested campomelic dysplasia in the 16th wee...

journal_title：Prenatal diagnosis

authors： Winter R,Rosenkranz W,Hofmann H,Zierler H,Becker H,Borkenstein M

更新日期：1985-01-01 00:00:00

abstract：OBJECTIVE:The objective of this study was to determine the contribution of uterine (UtA) and umbilical arteries (UA) Doppler examination at 28 weeks to predict adverse pregnancy outcomes in women who had increased resistance in UtA in the early second trimester. METHODS:Women with UtA mean pulsatility index (PI) above...

journal_title：Prenatal diagnosis

authors： Ventura W,De Paco Matallana C,Prieto-Sanchez MT,Macizo MI,Pertegal M,Nieto A,Delgado JL

更新日期：2015-03-01 00:00:00

abstract：OBJECTIVES:A case of prenatally diagnosed trisomy 11 mosaicism with a normal outcome is reported and the medical literature on prenatal detection of this finding is reviewed. METHODS:Proportion of cells with trisomy 11 was evaluated in amniocytes, fetal blood lymphocytes, newborn fibroblasts and urinary epithelial cel...

journal_title：Prenatal diagnosis

authors： Basel-Vanagaite L,Davidov B,Friedman J,Yeshaya Y,Magal N,Drasinover V,Shohat M

更新日期：2006-09-01 00:00:00

abstract：:Operator experience is considered to influence the safety and success of medical procedures. We performed a retrospective survey to assess learning curves in chorionic villus sampling (CVS). Data of 2081 consecutive women, in whom CVS was carried out in a tertiary care university hospital for prenatal diagnosis, were ...

journal_title：Prenatal diagnosis

authors： Wijnberger LD,van der Schouw YT,Christiaens GC

更新日期：2000-03-01 00:00:00

abstract：OBJECTIVES:To present the prenatal diagnosis of a fetus of mos46,X,del(Y)(q11.2)/45,X by cytogenetic and molecular analysis. CASE AND METHODS:A 35-year-old pregnant woman came to our hospital for amniocentesis, and fetal chromosomal aberrations with mos46,X, + mar/45,X were found. Fluorescence in situ hybridization re...

journal_title：Prenatal diagnosis

authors： Hwa HL,Ko TM,Chang YY,Huang CH,Su YN,Tseng LH,Hsieh FJ

更新日期：2004-02-01 00:00:00

abstract：OBJECTIVE:To assess the outcome of fetuses who had sonographic features suggestive of Pierre Robin Sequence (PRS). METHOD:All prenatal ultrasounds that mentioned 'posterior cleft palate', or 'micro or retrognathia' or 'PRS' over 13 and 20 years, respectively, at two obstetrical centers were reviewed. Medical records f...

journal_title：Prenatal diagnosis

authors： Lind K,Aubry MC,Belarbi N,Chalouhi C,Couly G,Benachi A,Lyonnet S,Abadie V

更新日期：2015-09-01 00:00:00

abstract：OBJECTIVES:To present the prenatal diagnosis of mosaic distal 5p deletion and a review of the literature. CLINICAL SUBJECT AND METHODS:A 37-year-old woman, gravida 2, para 1, underwent genetic amniocentesis at 17 weeks' gestation because of advanced maternal age. Cytogenetic analysis of the cultured amniocytes reveale...

journal_title：Prenatal diagnosis

authors： Chen CP,Lee CC,Chang TY,Town DD,Wang W

更新日期：2004-01-01 00:00:00