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Prenatal Detection (prenatal + detection)
Terms modified by Prenatal Detection Selected AbstractsPrenatal detection of Pierre Robin sequence with deletion Xp and additional trisomy 14q by telomere screeningPRENATAL DIAGNOSIS, Issue 11 2007M. Gerard-Blanluet No abstract is available for this article. [source] Prenatal detection of complex chromosomal aberrations using advanced molecular cytogenetic techniquesPRENATAL DIAGNOSIS, Issue 9 2003J. M. de Pater Abstract Objective This study aimed to identify a marker chromosome and characterize the short arm of a derivative chromosome 5 in a foetus with the following karyotype: mos 47,XX,del(5)(p?),+i(5)(p10)[50]/48,XX,del(5)(p?),+i(5)(p10),+mar[25]. Method Amniocentesis was performed in the 26th week of pregnancy because of ultrasound abnormalities (polyhydramnion and decreased amount of gastric filling). All classic banding techniques were performed. FISH and microdissection combined with reverse painting were used to reveal the exact origin of the marker and any extra material on the deleted chromosome 5p. The parents decided to continue the pregnancy and we compared the clinical features of the child born in week 34 with data from the literature on trisomy 5p. The possible contribution of trisomy of the centromeric region of chromosome 8 and trisomy 8p23.3,8pter to this clinical picture was evaluated. Results GTG banding showed one normal and two aberrant chromosomes 5 [del(5)(p?) and i(5)(p10)] in all the cells examined. Furthermore, a supernumerary marker chromosome was present in approximately 30% of the cells. The marker was CBG positive and positive with the pancentromere probe, but dystamicinA/DAPI negative. It did not contain NOR-positive satellites. FISH proved this marker to be derived from the centromeric region of chromosome 8. MicroFISH disclosed the aberrant chromosome 5 as der(5)t(5;8)(p10;p23.3). The parent's karyotypes were normal. The baby showed the characteristic features of trisomy 5p syndrome. She died at the age of 15 days after cardiorespiratory arrest. Conclusion The karyotype was interpreted as mos 47,XX,add(5)(p10).rev ish der(5)t(5;8)(p10;p23.3),+i(5)(p10) (WCP5+,D5S23+)[50]/48,XX,add(5)(p10).rev ish der(5)t(5;8)(p10;p23.3),+i(5)(p10)(WCP5+,D5S23+),+mar.ish 8(p10q10)(D8Z2+,WCP8-)[25]. Therefore, the baby had complete trisomy 5p, with trisomy of the distal part of 8p and of the centromeric region of chromosome 8. The clinical significance of de novo marker chromosomes is a major problem in prenatal counselling. Molecular cytogenetic tools such as FISH and microFISH are indispensable for characterizing markers and determining the breakpoints more precisely in deleted chromosomes. Copyright © 2003 John Wiley & Sons, Ltd. [source] Prenatal detection of trisomy 21 on nucleated red blood cells enriched from maternal circulation by using fluorescence in situ hybridizationPRENATAL DIAGNOSIS, Issue 9 2002Ilona Hromadnikova First page of article [source] Prenatal detection of structural abnormalities of chromosome 18: associations with interphase fluorescence in situ hybridization (FISH) and maternal serum screeningPRENATAL DIAGNOSIS, Issue 8 2002Michael D. Graf Abstract We describe two cases of prenatally ascertained isochromosome 18. Case 1 included both an isochromosome 18p and an isochromosome 18q, while Case 2 involved only an isochromosome 18q. Both of these cases were associated with a positive maternal serum triple screen trisomy 18 risk (greater than 1 in 100 risk). In addition, fluorescence in situ hybridization (FISH) was performed on uncultured amniotic fluid interphase cells in both cases looking for aneuploidy for chromosomes 13, 18, 21, X and Y. The results of the interphase analyses support the common knowledge that careful interpretation of interphase FISH analysis is necessary and that results should be followed by full cytogenetic analysis. To our knowledge these are the first reported cases of structurally abnormal chromosomes 18 being associated with a positive maternal serum triple screen for trisomy 18. Copyright © 2002 John Wiley & Sons, Ltd. [source] Is neonatal risk from vasa previa preventable?JOURNAL OF CLINICAL ULTRASOUND, Issue 3 2010The 20-year experience from a single medical center Abstract Background. Vasa previa is a rare condition associated with neonatal morbidity and mortality that may be diagnosed prenatally using transvaginal sonography. The aim of this study was to assess the prenatal detection of vasa previa and its subsequent impact on neonatal outcomes in two 10-year periods (1988,1997 versus 1998,2007). Method. Retrospective review of all cases of vasa previa. Data on obstetrical history, modes of conception, sonographic scans, delivery mode, and neonatal outcome were retrieved and recorded. Result. There were 19 pregnancies (21 neonates) with confirmed vasa previa (overall incidence of 1.7/10,000 deliveries). Vasa previa were diagnosed prenatally in 10 (52.6%) cases. In cases without prenatal diagnosis, there was a higher proportion of neonates with 1, Apgar score ,5 and cord blood pH <7 compared with cases diagnosed prenatally (66.7% versus 10%, p , 0.05, and 33.3% versus 0%, p < 0.05, respectively). The prenatal detection rate of vasa previa increased from 25 to 60% between the 2 time periods (p > 0.05), whereas perinatal mortality and 1, Apgar scores ,5 decreased from 25 to 0% and from 50 to 33.3% (p > 0.05). Conclusion. Prenatal sonographic screening using targeted scans for vasa previa in women at risk or as part of routine mid-gestation scanning may significantly impact its obstetric manifestations. © 2010 Wiley Periodicals, Inc. J Clin Ultrasound, 2010 [source] Prevalence of steroid sulfatase deficiency in California according to race and ethnicityPRENATAL DIAGNOSIS, Issue 9 2010Wendy Y. Craig Abstract Objective Estimate steroid sulfatase deficiency (STSD) prevalence among California's racial/ethnic groups using data from a previous study focused on prenatal detection of Smith-Lemli-Opitz syndrome (SLOS). SLOS and STSD both have low maternal serum unconjugated estriol (uE3) levels. Methods Prevalence was estimated using three steps: listing clinically identified cases; modeling STSD frequency at three uE3 intervals using diagnostic urine steroid measurements; applying this model to determine frequency in pregnancies not providing urine. Results Overall, 2151 of 777 088 pregnancies (0.28%) were screen positive; 1379 of these were explained and excluded. Fifty-four cases were diagnosed clinically among 707 remaining pregnancies with a male fetus. Urine steroid testing identified 74 additional STSD cases: 66 (89.2%) at uE3 values < 0.15 MoM, 8 (10.8%) at 0.15,0.20 MoM, and 0 (0%) at > 0.20 MoM. Modeling estimated 107.5 STSD cases among 370 pregnancies without urine samples. In males, STSD prevalence was highest among non-Hispanic Whites (1:1230) compared to Hispanics (1:1620) and Asians (1:1790), but differences were not significant. No STSD pregnancies were found among 65 screen positive Black women. Conclusion The overall prevalence estimate of 1:1500 males is consistent with published estimates and is reasonable for counseling, except among Black pregnancies where no reliable estimate could be made. Copyright © 2010 John Wiley & Sons, Ltd. [source] Prenatal screening for serious congenital heart defects using nuchal translucency: a meta-analysisPRENATAL DIAGNOSIS, Issue 12 2008Nicholas J. Wald Abstract Objectives To assess the performance of nuchal translucency (NT) measurements in screening for congenital heart defects (CHD) which would benefit from prenatal detection. Methods A literature search was conducted of studies published prior to August 2007 of CHD and NT measurements in fetuses without chromosome defects. From this, data on 159 pregnancies were obtained. Fetuses with CHD that would benefit from prenatal detection were identified and their NT measurements were compared with NT measurements in 29 776 unaffected fetuses without Down syndrome from the Serum Urine and Ultrasound Screening Study (SURUSS) trial to determine the screening performance of NT measurements. Results In all 67 fetuses with CHD were identified as potentially likely to benefit from prenatal detection. Using NT measurements, the estimated detection rate (DR) for a 5% false-positive rate (FPR) was 52% (95% CI: 42,71). Conclusion Prenatal screening for CHD using NT measurements is likely to be effective, and given that NT measurement is already in place as part of prenatal screening for Down syndrome; this is an ideal time to set up demonstration projects to validate these results. Copyright © 2008 John Wiley & Sons, Ltd. [source] External quality assessment of rapid prenatal detection of numerical chromosomal aberrations using molecular genetic techniques: 3 years experiencePRENATAL DIAGNOSIS, Issue 5 2007S. C. Ramsden Abstract Objectives Prenatal diagnosis using rapid molecular genetic techniques is now a widely used method for detecting the most prevalent chromosomal aneuploidies. The object of this work was to develop a methodology for delivering external quality assessment (EQA) appropriate to the needs of routine diagnostic testing laboratories. Methods We have provided three rounds of EQA using 15 different samples over 3 years. The scheme has developed to assess both the genotyping accuracy of the results and the appropriateness of the clinical reports issued to the referring clinician. Results Participation in the EQA scheme has increased from 9 to 27 laboratories from across Europe over the three sample distributions. All laboratories have used quantitative fluorescence-PCR (QF-PCR) to analyse these samples except for a sole participant in 2006 who used multiplex ligation-dependent probe amplification (MLPA). In total 265 samples have been distributed, of which four (1.5%) were not reported due to technical failures and one (0.4%) was reported incorrectly and must be regarded as a genotyping error. Conclusions We have demonstrated a significant and increasing demand for EQA in the rapid detection of aneuploidies in UK and other European laboratories. Using the methodologies described, we have had a very low rate of technical failures and demonstrated a high level of genotyping accuracy. However, the quality of the clinical reports was variable and suggestions are made for improvement. Copyright © 2007 John Wiley & Sons, Ltd. [source] Risk estimates for uniparental disomy following prenatal detection of a nonhomologous Robertsonian translocationPRENATAL DIAGNOSIS, Issue 4 2006Lisa G. Shaffer Abstract Carriers of nonhomologous Robertsonian translocations (ROB) are at risk for having offspring with uniparental disomy (UPD). Although risk estimates have been calculated in several independent studies, the estimates have not been optimal because most studies are not of sufficient size and UPD events are rare. However, these collective data have provided the opportunity to derive an overall risk estimate for UPD in the fetus after the prenatal identification of a ROB. Copyright © 2006 John Wiley & Sons, Ltd. [source] QF-PCR-based prenatal detection of aneuploidy in a southeast Asian populationPRENATAL DIAGNOSIS, Issue 6 2004R. Quaife Abstract Objectives We have investigated the efficacy of using quantitative fluorescent polymerase chain reaction (QF-PCR) for the prenatal recognition of aneuploidy in chromosomes 13, 18, 21, X and Y. A total of 1115 samples, from mainly southeast Asian patients, were analysed and compared in a blind trial to the results previously obtained cytogenetically. Methods A multiplex PCR involving 15 short tandem repeat (STR) sequences was used. The probability of two or more of these markers being informative was calculated, and this required the multiplex PCR to be modified. Results The QF-PCR and previous cytogenetic results concurred, except for two products of conception (POC). One of these may be a case of complete uniparental disomy that was not recognized cytogenetically. The other was tetraploid, and as such appeared normal using QF-PCR. A mosaic trisomy 18 was correctly identified. The population sample was of a mainly Chinese, ethnic origin, and the allele frequency, size and heterozygosity appeared more restricted than the population groups analysed hitherto. Conclusion The QF-PCR methodology is an efficient cost-effective method of screening for major chromosome aneuploidy, and, for certain referral categories, could be used alone. It also appears to be applicable to patients of different ethnic origins. Copyright © 2004 John Wiley & Sons, Ltd. [source] Detection of fetal structural abnormalities at the 11,14 week ultrasound scanPRENATAL DIAGNOSIS, Issue 1 2002M. H. B. Carvalho Abstract The aim of this study was to evaluate the detection of fetal structural abnormalities by the 11,14 week scan. 2853 pregnant women were submitted to a routine ultrasound scan between the 11th and 14th week and the fetal skull, brain, spine, abdominal wall, limbs, stomach and bladder were examined. Following the scans the patientes were examined in the second or third trimester of pregnancy. An isolated increased nuchal translucency was not considered an abnormality. However, these patients had an early echocardiography assessment. Fetal structural abnormalities were classified as major or minor and of early or late onset. A total of 130 (4.6%) defects were identified and 29 (22.3%) of these were diagnosed at the 11,14 week scan, including nine cardiac defects associated with increased nuchal translucency. The antenatal ultrasound detection rate was 71.5%, and 31.2% were detected in the first-trimester assessment. 78.8% of the major defects were diagnosed by the prenatal scan and 37.8% by the 11,14 week scan. Fetal structural abnormalities at the 11,14 week scan were detected in approximately 22.3% of the cases, therefore, a second-trimester anomaly scan is important in routine antenatal care to increase the prenatal detection of fetal defects. Copyright © 2002 John Wiley & Sons, Ltd. [source] Evaluation of prenatal diagnosis of associated congenital heart diseases by fetal ultrasonographic examination in EuropePRENATAL DIAGNOSIS, Issue 4 2001C. Stoll Abstract Ultrasound scans in the mid trimester of pregnancy are now a routine part of antenatal care in most European countries. With the assistance of Registries of Congenital Anomalies a study was undertaken in Europe. The objective of the study was to evaluate prenatal detection of congenital heart defects (CHD) by routine ultrasonographic examination of the fetus. All congenital malformations suspected prenatally and all congenital malformations, including chromosome anomalies, confirmed at birth were identified from the Congenital Malformation Registers, including 20 registers from the following European countries: Austria, Croatia, Denmark, France, Germany, Italy, Lithuania, Spain, Switzerland, The Netherlands, UK and Ukrainia. These registries follow the same methodology. The study period was 1996,1998, 709,030 births were covered, and 8126 cases with congenital malformations were registered. If more than one cardiac malformation was present the case was coded as complex cardiac malformation. CHD were subdivided into ,isolated' when only a cardiac malformation was present and ,associated' when at least one other major extra cardiac malformation was present. The associated CHD were subdivided into chromosomal, syndromic non-chromosomal and multiple. The study comprised 761 associated CHD including 282 cases with multiple malformations, 375 cases with chromosomal anomalies and 104 cases with non-chromosomal syndromes. The proportion of prenatal diagnosis of associated CHD varied in relation to the ultrasound screening policies from 17.9% in countries without routine screening (The Netherlands and Denmark) to 46.0% in countries with only one routine fetal scan and 55.6% in countries with two or three routine fetal scans. The prenatal detection rate of chromosomal anomalies was 40.3% (151/375 cases). This rate for recognized syndromes and multiply malformed with CHD was 51.9% (54/104 cases) and 48.6% (137/282 cases), respectively; 150/229 Down syndrome (65.8%) were livebirths. Concerning the syndromic cases, the detection rate of deletion 22q11, situs anomalies and VATER association was 44.4%, 64.7% and 46.6%, respectively. In conclusion, the present study shows large regional variations in the prenatal detection rate of CHD with the highest rates in European regions with three screening scans. Prenatal diagnosis of CHD is significantly higher if associated malformations are present. Cardiac defects affecting the size of the ventricles have the highest detection rate. Mean gestational age at discovery was 20,24 weeks for the majority of associated cardiac defects. Copyright © 2001 John Wiley & Sons, Ltd. [source] Assessment of new markers for the rapid detection of aneuploidies by quantitative fluorescent PCR (QF,PCR)ANNALS OF HUMAN GENETICS, Issue 5 2001V. CIRIGLIANO Rapid prenatal diagnoses of major chromosome aneuploidies have been achieved successfully using quantitative fluoresent PCR (QF,PCR) assays and small tandem repeat (STR) markers. Here we report the results of evaluating the use of previously untested X-linked STRs, (DXS6803) and (DXS6809), together with modified amelogenin (AMXY) sequences and the X22 marker that maps in the pseudoautosomal region PAR2 on the long arm of the X and Y chromosomes. These markers will allow prenatal diagnoses of sex chromosome aneuploidies such as 45,X (pure Turner Syndrome), 47,XXY and 47,XYY, while assessing the sex of the fetuses. Data are also presented concerning the difficulties associated with the evaluation of the frequencies of the various types of sub-populations of cells in amniotic fluid samples collected from fetuses with sex chromosome mosaicism. The results of evaluating the use of new markers for the rapid diagnosis of aneuploidies affecting chromosomes 21,18 and 13 are also presented. Three chromosome 21 specific STRs have been found to produce trisomic triallelic or diallelic patterns from all amniotic samples retrieved from fetuses with Down Syndrome. Since all samples tested were amplified and no false positive or negative results were observed, the present results confirm the diagnostic value of QF,PCR for the prenatal detection of major numerical chromosome disorders. [source] The hidden mortality of transposition of the great arteries and survival advantage provided by prenatal diagnosisBJOG : AN INTERNATIONAL JOURNAL OF OBSTETRICS & GYNAECOLOGY, Issue 9 2008M Blyth Objective, To describe the sensitivity of fetal anomaly scanning at detecting transposition of the great arteries (TGA) and to investigate whether prenatal detection improves survival. Design, Retrospective review of survival by comparing those who had an antenatal diagnosis with those who did not. Setting, Population-based study in Wessex region over 13 years. Population, Babies with isolated TGA and an intact ventricular septum. Methods, Review of outcomes by comparing those who had an antenatal diagnosis with those who did not. Main outcome measures, Mortality rates in each group. Results, TGA occurred more commonly in boys than in girls. Using the existing national screening policy, the antenatal detection rate of TGA was only 6.9% over the study period, improving to 25% in the last 4 years. This contrasts with a 40% detection rate when TGA was associated with a ventricular septal defect (VSD). All the babies who had TGA diagnosed antenatally survived through surgery. Of those who were not diagnosed antenatally, two were stillborn, five died before the diagnosis was made and four died after surgery. Although the difference in survival rates between those who were antenatally diagnosed and those who were not is not statistically significant (,2= 3.9; P = 0.11), some of these deaths could have been prevented if a prenatal diagnosis had been made. Conclusions, Improved antenatal diagnosis could lead to a significant reduction in the mortality associated with TGA. The current low detection rate of TGA in the UK could be improved by the inclusion of outflow tract views in routine fetal anomaly scans, and we believe that the extra workload is justified. [source] The use of nuchal translucency measurement and second trimester biochemical markers in screening for Down's SyndromeBJOG : AN INTERNATIONAL JOURNAL OF OBSTETRICS & GYNAECOLOGY, Issue 10 2001G.D. Michailidis Objective To assess the effectiveness of antenatal screening for trisomy 21 by first trimester sonography followed by second trimester biochemical screening. Design Retrospective five-year review. Setting Maternity unit of a university hospital. Population An unselected group of 7447 pregnant women who had a first trimester scan and nuchal translucency measurement in our unit after January 1995 and had an estimated date of delivery before 1 January 2000. 11.9% were , 37 years old. A subgroup (n=4864) also had second trimester biochemical testing by alpha-fetoprotein and free ,-human chorionic gonadotrophin. Main outcome measures Prenatal and postnatal diagnosis of trisomy 21. Results There were 23 fetuses affected with trisomy 21. The overall prenatal detection rate was 87% (20/23; 95% CI 66% to 97%) and we performed invasive procedures in 8.5% of our population. First trimester sonography identified 74% (95% CI 51.6% to 89.8%) of affected fetuses. Second trimester biochemical screening detected half of the fetuses with trisomy 21 which were missed by first trimester screening, increasing the sensitivity to 90.5% (19/21; 95% CI 69.6% to 98.8%) for an invasive procedure rate of 4.2% performed in screened positive women. However, the positive predictive value of the biochemical test was very low (0.5%). In screen negative women, karyotyping for advanced maternal age did not detect any affected fetuses. Conclusion First trimester nuchal translucency measurement is an effective screening test for the prenatal detection of fetuses with Down's Syndrome. Although the measurement of biochemical markers in the second trimester can detect additional affected fetuses this may be outweighed by the delay in diagnosis, the extra visits and cost so that the right time for biochemical screening is most likely to be in the first trimester. [source] Congenital diaphragmatic hernia: review of the literature in reflection of unresolved dilemmasACTA PAEDIATRICA, Issue 12 2009S Grisaru-Granovsky Abstract Background:, Congenital diaphragmatic hernia (CDH) is a rare but clinically and scientifically challenging condition. The introduction of ultrasound has enabled early prenatal detection and consequently, hope of early therapeutic intervention. Aim:, We undertook the task to review the recent developments in understanding the pathology of CDH as well as the history and current management strategies to aid perinatologists in consultations with parents of CDH-affected foetuses. Study design:, A Medline search was undertaken of all reports and reviews published between 1980 and 2008 using MeSH search terms ,diaphragmatic hernia', ,congenital' and ,newborn'. Results:, The true incidence of CDH is still difficult to estimate because of the high incidence of hidden mortality of CDH. Complete case ascertainment also poses difficulties in assessment of the impact of new therapeutic modalities on overall survival. Recent improvements in prenatal detection are a milestone in affording time for re-assessments and parental counselling. The true benefit of antenatal therapy is circumscribed and should be offered only in selected cases of isolated severe CDH as defined by existing guidelines. Postnatal intensive respiratory supportive therapy and innovative surgical techniques within specialized tertiary centres has had a major impact on survival of babies with CDH. Conclusion:, The high survival of ,selected cases' that are live births and benefit from optimal care will be difficult to improve by antenatal interventions. The multidisciplinary approach to basic research and randomized clinical trials will further define the best approach to the foetus and neonate with CDH. [source] | |||||||||||||