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K H Nicolaides - One of the best experts on this subject based on the ideXlab platform.
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Trisomy 13 detection in the first trimester of pregnancy using a chromosome selective cell free dna analysis method
Ultrasound in Obstetrics & Gynecology, 2013Co-Authors: Ghalia Ashoor, Argyro Syngelaki, Eric Wang, Craig A Struble, Arnold Oliphant, Ken Song, K H NicolaidesAbstract:Objective To assess the performance of chromosome-selective sequencing of maternal plasma cell-free DNA (cfDNA) in non-invasive prenatal testing for Trisomy 13. Methods Two-phase case–control study on a single plasma sample per case. The first phase was used to optimize the Trisomy 13 algorithm, which was then applied to a second dataset to determine the risk score for Trisomy 13 by laboratory personnel who were blinded to the fetal karyotype. Results In the first phase, Trisomy 13 risk scores were given for 11 cases of Trisomy 13 and 145 euploid cases at 11–13 weeks' gestation. The test identified seven (63.6%) cases of Trisomy 13 with no false positives. The Trisomy 13 algorithm was subsequently modified and the Trisomy 13 risk score was > 99% in all 11 cases of Trisomy 13 and 99% in eight (80.0% (95% confidence interval (CI), 49.0–94.3%)) cases of Trisomy 13. In the 1939 euploid cases the risk score for Trisomy 13 was 99% in one. Therefore, at the predefined risk cut-off of 1% for classifying a sample as high or low risk, the false-positive rate (FPR) was 0.05% (95% CI, 0.0–0.3%). Conclusions Chromosome-selective sequencing of cfDNA can detect the majority of cases of Trisomy 13 at an FPR of less than 0.1%.
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frontomaxillary facial angle in fetuses with Trisomy 13 at 11 0 to 13 6 weeks
Ultrasound in Obstetrics & Gynecology, 2007Co-Authors: M Borenstein, Nicola Persico, T Dagklis, E Faros, K H NicolaidesAbstract:Objective To investigate the frontomaxillary facial (FMF) angle in fetuses with Trisomy 13 at 11 + 0 to 13 + 6 weeks of gestation. Methods A three-dimensional (3D) volume of the fetal head was obtained before karyotyping at 11 + 0 to 13 + 6 weeks of gestation in 23 fetuses with Trisomy 13. The FMF angle, defined as the angle between the upper surface of the maxilla and the frontal bone in a midsagittal view of the fetal face, was measured and compared to the angle in 500 chromosomally normal fetuses. Results In 10 of 12 (83.3%) fetuses with Trisomy 13 and holoprosencephaly, the FMF angle was above the 95th centile of the normal range. In the 11 fetuses with no holoprosencephaly, the FMF angle was not significantly different from normal. There was no significant difference in the FMF angle between the Trisomy 13 fetuses with and without facial cleft. Conclusions In fetuses with Trisomy 13, the FMF angle at 11 + 0 to 13 + 6 weeks of gestation is increased only in cases with associated holoprosencephaly. Copyright © 2007 ISUOG. Published by John Wiley & Sons, Ltd.
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sonographic screening for Trisomy 13 at 11 to 13 6 weeks of gestation
American Journal of Obstetrics and Gynecology, 2006Co-Authors: A T Papageorghiou, K Avgidou, Kevin Spencer, K H NicolaidesAbstract:Objective The purpose of this study was to examine the sonographic features of Trisomy 13 at 11 to 13+6 weeks of gestation. Study design This was a retrospective study that examined the features of Trisomy 13 at the ultrasound scan at 11 to 13+6 weeks of gestation, which in our center is performed for the measurement of crown-rump length, nuchal translucency thickness, and fetal heart rate and the examination for major defects. Results In the 181 fetuses with Trisomy 13, there were holoprosencephaly, exomphalos, and/or megacystis in 92 fetuses (50.2%), fetal heart rate above the 95th percentile in 129 fetuses (71.3%), and nuchal translucency above the 95th percentile in 141 fetuses (77.9%). There was no significant association between nuchal translucency and fetal heart rate, and it was estimated that inclusion of fetal heart rate in nuchal translucency screening can improve the detection rate of Trisomy 13 by approximately 5%. Conclusion At the 11 to 13+6–week scan, the measurement of fetal nuchal translucency and fetal heart rate and fetal examination for holoprosencephaly, exomphalos, and megacystis can identify >90% of fetuses with Trisomy 13.
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increased nuchal translucency in Trisomy 13 fetuses at 10 14 weeks of gestation
American Journal of Medical Genetics, 1999Co-Authors: R J M Snijders, N J Sebire, Roshini Nayar, A P Souka, K H NicolaidesAbstract:In a multicenter screening study for Trisomy 21 involving ultrasonographic measurement of fetal nuchal translucency thickness (NT) at 10–14 weeks of gestation, 100,311 singleton pregnancies with a live fetus were examined. There were 46 cases of Trisomy 13, and in 33 (72%) of these, the NT was above the 95th centile. The estimated risk for Trisomy 21, based on maternal age-related risk for this chromosomal abnormality and fetal NT, was above 1 in 300 in 37 (80.1%) of the Trisomy 13 fetuses. The fetal crown-rump length was significantly reduced, but the fetal heart rate was increased, being above the 95th centile in 64% of cases. Additionally, 24% of Trisomy 13 fetuses had holoprosencephaly and 10% had exomphalos. This study has demonstrated that at 10–14 weeks of gestation, about 80% of fetuses with Trisomy 13 can be identified in a screening program for Trisomy 21, based on a combination of maternal age and fetal NT. Am. J. Med. Genet. 86:205–207, 1999. © 1999 Wiley-Liss, Inc.
Chih-ping Chen - One of the best experts on this subject based on the ideXlab platform.
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Prenatal Sonographic Features of Trisomy 13
Journal of Medical Ultrasound, 2020Co-Authors: Chih-ping Chen, Shu-chin ChienAbstract:Fetuses with Trisomy 13 are characterized by many associated congenital anomalies including defects of the brain, face, heart, and limbs. The complex anomalies usually result in early embryo death or intrauterine fetal death in the late stages. Only 5-10% of live births have a longer survival time after delivery but these patients are often mentally retarded. Prenatal sonography has been reported to detect more than 90% of Trisomy 13 fetuses with major structural defects in the second trimester. In recent years, the addition of soft markers to the sonographic screening for fetal Trisomy 13 in the first trimester has been significantly beneficial. This article provides an overview of the common sonographic features of fetal Trisomy 13 with major structural abnormalities including brain defects, midline facial defects, cardiac anomalies, genitourinary anomalies, limb anomalies and abdominal wall defects, and minor structural abnormalities including increased nuchal translucency thickness, echogenic intracardiac focus, fetal tachycardia, and megacystis. Several diseases may have phenotypic overlaps with Trisomy 13 syndrome including Meckel-Gruber syndrome, pseudoTrisomy 13 syndrome, Smith-Lemli-Opitz syndrome, Pallister-Hall syndrome, and hydrolethalus syndrome. Due to the seriousness of this congenital anomaly, increased understanding of the different sonographic markers will improve the detection of Trisomy 13 and prenatal ultrasound is a valuable tool in detecting a variety of congenital structural malformations of this lethal syndrome throughout gestation.
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Prenatal sonographic features of fetuses in Trisomy 13 pregnancies (II).
Taiwanese journal of obstetrics & gynecology, 2020Co-Authors: Chih-ping ChenAbstract:Prenatal ultrasound is a powerful tool for detecting structural abnormalities in fetuses in Trisomy 13 pregnancies. This article provides a comprehensive review of the prenatal sonographic features of Trisomy 13 in the second and third trimesters, including holoprosencephaly, brachycephaly, microcephaly, Dandy-Walker complex and posterior fossa abnormalities, ventriculomegaly, neural tube defects, facial cleft, and micrognathia.
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Prenatal sonographic features of fetuses in Trisomy 13 pregnancies (I).
Taiwanese journal of obstetrics & gynecology, 2020Co-Authors: Chih-ping ChenAbstract:Prenatal ultrasound is a powerful tool for detecting structural abnormalities in fetuses in Trisomy 13 pregnancies. This article provides a comprehensive review of the prenatal sonographic features of Trisomy 13, including the major structural abnormalities observed during the first trimester (omphalocele, holoprosencephaly, megacystis and congenital heart defects), the frequencies of second- and third-trimester sonographic features reported in previous studies, and the subtle sonographic findings observed during the second trimester (echogenic intracardiac foci, echogenic bowel, single umbilical artery, choroid plexus cysts and intrauterine growth restriction).
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Prenatal Diagnosis and Genetic Counseling for Mosaic Trisomy 13
Taiwanese Journal of Obstetrics & Gynecology, 2010Co-Authors: Chih-ping ChenAbstract:Abstract Counseling parents of a fetus with Trisomy 13 mosaicism remains difficult because of the phenotypic variability associated with the condition; some patients exhibit the typical phenotype of complete Trisomy 13 with neonatal death, while others have few dysmorphic features and prolonged survival. This article provides a comprehensive review of the prenatal diagnosis and genetic counseling for mosaic Trisomy 13, including confined placental mosaicism 13, mosaic Trisomy 13 diagnosed at amniocentesis, and phylloid hypomelanosis in association with mosaic Trisomy 13.
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prenatal sonographic features of fetuses in Trisomy 13 pregnancies iii
Taiwanese Journal of Obstetrics & Gynecology, 2009Co-Authors: Chih-ping ChenAbstract:Prenatal ultrasound is a powerful tool for the detection of structural abnormalities of fetuses in Trisomy 13 pregnancies. This article provides a comprehensive review of the prenatal sonographic features of Trisomy 13 fetuses in the second and third trimesters, including cystic hygroma and nuchal edema, congenital heart defects, hydrops fetalis, omphalocele, diaphragmatic hernia, urinary tract abnormalities, and abnormal extremities and polydactyly.
Micheline Giphartgassler - One of the best experts on this subject based on the ideXlab platform.
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Trisomy 13 correlates with runx1 mutation and increased flt3 expression in aml m0 patients
Haematologica, 2007Co-Authors: Fernando P G Silva, Alexandra Lind, Geeske Brouwermandema, Peter J M Valk, Micheline GiphartgasslerAbstract:Of 52 AML-M0 patients studied, 16 presented a RUNX1 mutation (30.8 %) and 8 carried a Trisomy 13 (15 %). We found a strong correlation between Trisomy 13 and RUNX1 mutations, i.e, 7 out of 8 cases with Trisomy 13 carried a mutation in RUNX1 (87.5 %, p<0.00056). Trisomy 13 patients with a RUNX1 mutation showed a 4-fold higher expression of FLT3 mRNA compared to controls, and in a selected number of cases, a higher cell fraction expressing FLT3 and an increase in the number of FLT3 receptors at the cell surface. In conclusion, our results show that Trisomy 13 is correlated to RUNX1 mutation and increased FLT3 expression in AML-M0.
Jan M Friedman - One of the best experts on this subject based on the ideXlab platform.
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Population-based analyses of mortality in Trisomy 13 and Trisomy 18.
Pediatrics, 2020Co-Authors: Sonja A Rasmussen, Leeyang C Wong, Quanhe Yang, Jan M FriedmanAbstract:Although Trisomy 13 and Trisomy 18 are generally considered to be lethal, long-term survival of patients has been reported. We sought to evaluate mortality in people with Trisomy 13 or 18 using 2 population-based strategies. In the first analysis, infants who had Trisomy 13 or 18 and were born during 1968-1999 were identified using the Metropolitan Atlanta Congenital Defects Program, a population-based birth defects surveillance system. Dates of death were documented using hospital records, Georgia vital records, and the National Death Index. In the second analysis, we used the Multiple-Cause Mortality Files compiled from US death certificates from 1979 through 1997. Using these 2 analyses, we examined median survival time or median age at death, survival beyond 1 year of age, and factors associated with longer survival. Using Metropolitan Atlanta Congenital Defects Program, we identified 70 liveborn infants with Trisomy 13 and 114 liveborn infants with Trisomy 18. Median survival time was 7 days (95% confidence interval [CI]: 3-15) for people with Trisomy 13 and 14.5 days (95% CI: 8-28) for people with Trisomy 18. For each condition, 91% of infants died within the first year. Neither race nor gender affected survival for Trisomy 13, but for Trisomy 18, girls and infants of races other than white seemed to survive longer. The presence of a heart defect did not seem to affect survival for either condition. Using MCMF, we identified 5515 people with Trisomy 13 and 8750 people with Trisomy 18 listed on their death certificates. Median ages at death for people with Trisomy 13 and Trisomy 18 both were 10 days; 5.6% of people with Trisomy 13 and 5.6% of people with Trisomy 18 died at age 1 year or greater. Race and gender seemed to affect survival in both conditions, with girls and blacks showing higher median ages at death. Although survival is greatly affected by Trisomy 13 and Trisomy 18, 5% to 10% of people with these conditions survive beyond the first year of life. These population-based data are useful to clinicians who care for patients with these trisomies or counsel families with infants or fetuses who have a diagnosis of Trisomy 13 or 18.
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population based analyses of mortality in Trisomy 13 and Trisomy 18
Pediatrics, 2003Co-Authors: Sonja A Rasmussen, Leeyang C Wong, Quanhe Yang, Jan M FriedmanAbstract:Objective. Although Trisomy 13 and Trisomy 18 are generally considered to be lethal, long-term survival of patients has been reported. We sought to evaluate mortality in people with Trisomy 13 or 18 using 2 population-based strategies. Methods. In the first analysis, infants who had Trisomy 13 or 18 and were born during 1968–1999 were identified using the Metropolitan Atlanta Congenital Defects Program, a population-based birth defects surveillance system. Dates of death were documented using hospital records, Georgia vital records, and the National Death Index. In the second analysis, we used the Multiple-Cause Mortality Files compiled from US death certificates from 1979 through 1997. Using these 2 analyses, we examined median survival time or median age at death, survival beyond 1 year of age, and factors associated with longer survival. Results. Using Metropolitan Atlanta Congenital Defects Program, we identified 70 liveborn infants with Trisomy 13 and 114 liveborn infants with Trisomy 18. Median survival time was 7 days (95% confidence interval [CI]: 3–15) for people with Trisomy 13 and 14.5 days (95% CI: 8–28) for people with Trisomy 18. For each condition, 91% of infants died within the first year. Neither race nor gender affected survival for Trisomy 13, but for Trisomy 18, girls and infants of races other than white seemed to survive longer. The presence of a heart defect did not seem to affect survival for either condition. Using MCMF, we identified 5515 people with Trisomy 13 and 8750 people with Trisomy 18 listed on their death certificates. Median ages at death for people with Trisomy 13 and Trisomy 18 both were 10 days; 5.6% of people with Trisomy 13 and 5.6% of people with Trisomy 18 died at age 1 year or greater. Race and gender seemed to affect survival in both conditions, with girls and blacks showing higher median ages at death. Conclusions. Although survival is greatly affected by Trisomy 13 and Trisomy 18, 5% to 10% of people with these conditions survive beyond the first year of life. These population-based data are useful to clinicians who care for patients with these trisomies or counsel families with infants or fetuses who have a diagnosis of Trisomy 13 or 18.
Berthold Streubel - One of the best experts on this subject based on the ideXlab platform.
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natural outcome of Trisomy 13 Trisomy 18 and triploidy after prenatal diagnosis
American Journal of Medical Genetics Part A, 2011Co-Authors: Ioana Claudia Lakovschek, Berthold StreubelAbstract:Trisomy 13, Trisomy 18, and triploidy belong to the chromosomal abnormalities which are compatible with life, but which are also associated with a high rate of spontaneous abortion, intrauterine death, and a short life span. This study was conducted to analyze natural outcome after prenatal diagnosis of these disorders. Between January 1, 1999 and December 31, 2009, we investigated all amniocenteses and chorionic villus biopsies carried out at our department. All cases with fetal diagnosis of triploidy, Trisomy 13, and 18 were analyzed, with a focus on cases with natural outcome. Overall, 83 (78%) cases of pregnancy termination and 24 (22%) patients with natural outcome (NO) were identified. The NO group included 15 cases of Trisomy 18, six cases of triploidy, and three cases of Trisomy 13. No case of triploidy was born alive. The live birth rate was 13% for Trisomy 18 and 33% for Trisomy 13. The three live-born infants with Trisomy 13 and 18 died early after a maximum of 87 hr postpartum. Our data are consistent with the literature concerning outcome of triploidy, with none or only a few live births. Analyzes of Trisomy 13 and 18 indicate a very short postnatal life span. Different study designs and diverse treatment strategies greatly affect the fetal and neonatal outcome of fetuses with triploidy, Trisomy 13, and 18. More studies analyzing natural outcome after prenatal diagnosis of these chromosomal abnormalities are needed. Non-termination of these pregnancies remains an option, and specialists advising parents need accurate data for counseling. © 2011 Wiley Periodicals, Inc.
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Natural outcome of Trisomy 13, Trisomy 18, and triploidy after prenatal diagnosis.
American journal of medical genetics. Part A, 2011Co-Authors: Ioana Claudia Lakovschek, Berthold StreubelAbstract:Trisomy 13, Trisomy 18, and triploidy belong to the chromosomal abnormalities which are compatible with life, but which are also associated with a high rate of spontaneous abortion, intrauterine death, and a short life span. This study was conducted to analyze natural outcome after prenatal diagnosis of these disorders. Between January 1, 1999 and December 31, 2009, we investigated all amniocenteses and chorionic villus biopsies carried out at our department. All cases with fetal diagnosis of triploidy, Trisomy 13, and 18 were analyzed, with a focus on cases with natural outcome. Overall, 83 (78%) cases of pregnancy termination and 24 (22%) patients with natural outcome (NO) were identified. The NO group included 15 cases of Trisomy 18, six cases of triploidy, and three cases of Trisomy 13. No case of triploidy was born alive. The live birth rate was 13% for Trisomy 18 and 33% for Trisomy 13. The three live-born infants with Trisomy 13 and 18 died early after a maximum of 87 hr postpartum. Our data are consistent with the literature concerning outcome of triploidy, with none or only a few live births. Analyzes of Trisomy 13 and 18 indicate a very short postnatal life span. Different study designs and diverse treatment strategies greatly affect the fetal and neonatal outcome of fetuses with triploidy, Trisomy 13, and 18. More studies analyzing natural outcome after prenatal diagnosis of these chromosomal abnormalities are needed. Non-termination of these pregnancies remains an option, and specialists advising parents need accurate data for counseling.
