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John C Carey - One of the best experts on this subject based on the ideXlab platform.
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solid tumor screening recommendations in Trisomy 18
American Journal of Medical Genetics Part A, 2019Co-Authors: Shannon G Farmakis, John C Carey, Ann M Barnes, Stephen R BraddockAbstract:The purpose of this study was to determine whether Trisomy 18 patients are at an increased risk of tumor development and require formal tumor screening recommendations. A literature search of Trisomy 18 patients with reports of tumors or malignancies, and compilation of all previously reported as well as new unreported cases was performed. 67 patients with Trisomy 18 were found to have documented malignancies. 44 patients had hepatoblastomas, 21 patients had Wilms tumors, one patient had a functional neurogenic neoplasia, and one patient had Hodgkins lymphoma. The increasing numbers of reported malignancies in patients with Trisomy 18 supports the indication for an early screening process. Specific screening recommendations are outlined consisting of imaging exams and laboratory values performed at specific intervals.
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reported communication ability of persons with Trisomy 18 and Trisomy 13
Developmental Neurorehabilitation, 2015Co-Authors: Cheryl A Liang, Barbara A. Braddock, Stephen R Braddock, Jennifer L Heithaus, Katherine M Christensen, John C CareyAbstract:AbstractObjective: The aim of this study was to describe the communication ability of individuals with Trisomy 18 and Trisomy 13 syndromes.Methods: Parents reported on children’s potential communication acts, words, spontaneous gesture, and augmentative and alternative communication (AAC) using a parent report inventory (n = 32; age range 3–35 years). Potential communicative acts are defined as behaviors produced by an individual that may be interpreted by others to serve communicative functions.Results: Potential communicative acts categorized as body movement displayed the highest median rank for reported occurrence followed by vocalization and facial expression. Although symbolic forms were ranked lower, more than half of the parents (66%) reported that their children produced at least one word, gesture or AAC form. Challenging behaviors or stereotypic movement displayed lowest median ranks.Conclusions: Results are discussed in terms of communication potential and the need to address AAC in Trisomy 18 ...
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communication ability in persons with Trisomy 18 and Trisomy 13
Augmentative and Alternative Communication, 2012Co-Authors: Barbara A. Braddock, Jena Mcdaniel, Sara Spragge, Filip Loncke, Stephen R Braddock, John C CareyAbstract:The purpose of this study was to assess communication abilities among a sample of 10 individuals with Trisomy 18 and Trisomy 13. These 10 individuals were diagnosed with Trisomy 18 (n = 8) or Trisomy 13 (n = 2) and had a mean age of 15.96 years. The sample consisted of one male and nine females. Caregivers completed a case history and reported on words and gestures understood and/or produced. Participants were also videotaped during communication temptation tasks. Auditory comprehension was reported to be higher than expressive language. No participant produced intelligible words or word approximations, yet most produced hand gestures. The process and results of these 10 cases point to a potentially promising approach for assessing communication abilities in individuals with Trisomy 18 and Trisomy 13.
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perspectives on the care and management of infants with Trisomy 18 and Trisomy 13 striving for balance
Current Opinion in Pediatrics, 2012Co-Authors: John C CareyAbstract:Purpose of review At the time of diagnosis of the Trisomy 18 and Trisomy 13, parents and care providers face difficult and challenging decisions regarding management. Because of the increased infant mortality and developmental outcome associated with both conditions, the conventional approach to management has been to withhold technological support. In recent years, an active dialogue on this topic has emerged. The purpose of this review is to summarize the literature on the outcome of infants with Trisomy 18 and 13 and to discuss the key themes in this emerging dialogue. Recent findings In recent years, several important studies have appeared that have analyzed the issues relevant to this topic, including parental autonomy, best interest of the child standard, and quality of life. Some authorities state that in areas of ambiguity it is best to defer to parents’ views, whereas others indicate concern that the best interest standard has given way to parental autonomy. Information on the actual experience of parents of children with Trisomy 18 and 13 has been limited until recently. Summary The author recommends a balanced approach to counseling families of the newborn with Trisomy 18 and 13 at the time of diagnosis. The counseling process should include presentation of accurate survival figures, avoidance of language that assumes outcome, communication of developmental outcome that does not presuppose perception of quality of life, and respect for the family’s choice, whether it be comfort care or intervention.
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The Trisomy 18 syndrome
Orphanet Journal of Rare Diseases, 2012Co-Authors: Anna Cereda, John C CareyAbstract:The Trisomy 18 syndrome, also known as Edwards syndrome, is a common chromosomal disorder due to the presence of an extra chromosome 18, either full, mosaic Trisomy, or partial Trisomy 18q. The condition is the second most common autosomal Trisomy syndrome after Trisomy 21. The live born prevalence is estimated as 1/6,000-1/8,000, but the overall prevalence is higher (1/2500-1/2600) due to the high frequency of fetal loss and pregnancy termination after prenatal diagnosis. The prevalence of Trisomy 18 rises with the increasing maternal age. The recurrence risk for a family with a child with full Trisomy 18 is about 1%. Currently most cases of Trisomy 18 are prenatally diagnosed, based on screening by maternal age, maternal serum marker screening, or detection of sonographic abnormalities (e.g., increased nuchal translucency thickness, growth retardation, choroid plexus cyst, overlapping of fingers, and congenital heart defects ). The recognizable syndrome pattern consists of major and minor anomalies, prenatal and postnatal growth deficiency, an increased risk of neonatal and infant mortality, and marked psychomotor and cognitive disability. Typical minor anomalies include characteristic craniofacial features, clenched fist with overriding fingers, small fingernails, underdeveloped thumbs, and short sternum. The presence of major malformations is common, and the most frequent are heart and kidney anomalies. Feeding problems occur consistently and may require enteral nutrition. Despite the well known infant mortality, approximately 50% of babies with Trisomy 18 live longer than 1 week and about 5-10% of children beyond the first year. The major causes of death include central apnea, cardiac failure due to cardiac malformations, respiratory insufficiency due to hypoventilation, aspiration, or upper airway obstruction and, likely, the combination of these and other factors (including decisions regarding aggressive care). Upper airway obstruction is likely more common than previously realized and should be investigated when full care is opted by the family and medical team. The complexity and the severity of the clinical presentation at birth and the high neonatal and infant mortality make the perinatal and neonatal management of babies with Trisomy 18 particularly challenging, controversial, and unique among multiple congenital anomaly syndromes. Health supervision should be diligent, especially in the first 12 months of life, and can require multiple pediatric and specialist evaluations.
Kypros H. Nicolaides - One of the best experts on this subject based on the ideXlab platform.
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metabolomic analysis for first trimester Trisomy 18 detection
American Journal of Obstetrics and Gynecology, 2013Co-Authors: Ray O Bahadosingh, Ranjit Akolekar, Anushka Chelliah, Rupasri Mandal, Edison Dong, Michael Kruger, David S Wishart, Kypros H. NicolaidesAbstract:Objective The purpose of this study was to determine whether nuclear magnetic resonance–based metabolomic markers in first-trimester maternal serum can detect fetuses with Trisomy 18. Study Design This was a study of pregnancies between 11 weeks and 13 weeks 6 days' gestation. We analyzed 30 cases of Trisomy 18 and a total of 114 euploid cases. Nuclear magnetic resonance–based metabolomic analysis was performed. A further analysis was performed that compared 30 cases with Trisomy 18 and 30 Trisomy 21 (T21) cases. Results Metabolomic markers were sensitive for Trisomy 18 detection. A combination of 2-hydroxybutyrate, glycerol and maternal age had a 73.3% sensitivity and 96.6% specificity for Trisomy 18 detection, with an area under the receiver operating curve: 0.92 ( P Conclusion This is the first report of prenatal Trisomy 18 detection that has been based on metabolomic analysis. Preliminary results suggest that such markers are sensitive not only for the detection of fetal Trisomy 18 but also for distinguishing this aneuploidy from T21.
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Posterior brain in fetuses with Trisomy 18, Trisomy 13 and triploidy at 11 to 13 weeks' gestation
Prenatal diagnosis, 2012Co-Authors: Ana Fatima A. Ferreira, Argyro Syngelaki, Anna Smolin, Ana-maria Vayna, Kypros H. NicolaidesAbstract:Objective To measure changes in the posterior fossa of first-trimester fetuses with Trisomy 18, Trisomy 13 and triploidy. Methods Brain stem (BS) diameter and BS to occipital bone (BSOB) diameter were measured in images of the midsagittal view of the face at 11+0 to 13+6 weeks from 45 Trisomy 18, 21 Trisomy 13 and 15 triploid fetuses and compared with values in 162 euploid fetuses. Results In euploid fetuses BS and BSOB diameters increased significantly with crown–rum length and the BS to BSOB ratio decreased. In all three aneuploidies BSOB diameter was significantly higher than in euploid fetuses. In Trisomy 18 and Trisomy 13, the BS diameter and BS to BSOB ratio were decreased. The BS to BSOB ratio was below the 5th percentile in 16 (35.6%), 17 (81.0%) and 5 (33.3%) of Trisomy 18, Trisomy 13 and triploidy, respectively. In 7 (8.6%) of the aneuploid fetuses there was open spina bifida and in all these cases the BS to BSOB ratio was above the 95th percentile. Conclusions At 11 to 13 weeks' gestation many fetuses with Trisomy 18, Trisomy 13 and triploidy have measurable abnormalities in the posterior brain. © 2012 John Wiley & Sons, Ltd.
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chromosome selective sequencing of maternal plasma cell free dna for first trimester detection of Trisomy 21 and Trisomy 18
American Journal of Obstetrics and Gynecology, 2012Co-Authors: Ghalia Ashoor, Argyro Syngelaki, Kypros H. Nicolaides, Marion Wagner, Cahit BirdirAbstract:OBJECTIVE: The purpose of this study was to assess the prenatal detection rate of Trisomy 21 and 18 and the false-positive rate by chromosome-selective sequencing of maternal plasma cell–free DNA. STUDY DESIGN: Nested case-control study of cell-free DNA was examined in plasma that was obtained at 11-13 weeks before chorionic villous sampling from 300 euploid pregnancies, 50 pregnancies with Trisomy 21, and 50 pregnancies with Trisomy 18. Laboratory personnel were blinded to fetal karyotype. RESULTS: Risk scores for Trisomy 21 and 18 were given for 397 of the 400 samples that were analyzed. In all 50 cases of Trisomy 21, the risk score for Trisomy 21 was99%, and the risk score for Trisomy 18 was 0.01%. In all 50 cases of Trisomy 18, the risk score for Trisomy 21 was 0.01%, and the risk score for Trisomy 18 was 99% in 47 cases, 98.8% in 1 case, 88.5% in 1 case, and 0.11% in 1 case. In 3 of the 300 euploid pregnancies (1%), no risk score was provided, because there was failed amplification and sequencing. In the remaining 297 cases, the risk score for Trisomy 21 was0.01%, and the risk score for Trisomy 18 was0.01% in 295 cases, 0.04% in 1 case, and 0.23% in 1 case. Therefore, the sensitivity for detecting Trisomy 21 was 100% (50/50 cases); the sensitivity for Trisomy 18 was 98% (49/50 cases), and the specificity was 100% (297/297 cases). CONCLUSION: In this study, chromosome-selective sequencing of cellfree DNA separated all cases of Trisomy 21 and 98% of Trisomy 18 from euploid pregnancies.
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prenatal diagnosis of Trisomy 18 at the 10 14 week ultrasound scan
Ultrasound in Obstetrics & Gynecology, 1997Co-Authors: C Sherod, N J Sebire, W Soares, R J M Snijders, Kypros H. NicolaidesAbstract:A beneficial consequence of screening for Trisomy 21 by a combination of maternal age and fetal nuchal translucency thickness (NT) at 10-14 weeks is the early diagnosis of Trisomy 18. In a multicenter study of 91,091 singleton pregnancies there were 106 fetuses with Trisomy 18 and 83% were identified by NT screening. Trisomy 18 was also associated with early onset intrauterine growth retardation, decreased fetal heart rate and the presence of exomphalos.
K H Nicolaides - One of the best experts on this subject based on the ideXlab platform.
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dilated fourth ventricle in fetuses with Trisomy 18 Trisomy 13 and triploidy at 11 13 weeks gestation
Fetal Diagnosis and Therapy, 2012Co-Authors: Ana Fatima A. Ferreira, Teresa Loureiro, F Ushakov, Nuno Montenegro, K H NicolaidesAbstract:Objective: To determine if in fetuses with aneuploidies the diameter of the fourth cerebral ventricle at 11–13 weeks’ gestation is different from euploid fetuses. Methods: The fourth ventricle at 11–13 weeks’ gestation was assessed in 62 cases of Trisomy 21, 32 of Trisomy 18, 10 of Trisomy 13, and 12 of triploidy and compared to 410 normal euploid fetuses. Transvaginal sonography was carried out and 3D brain volumes were acquired. The fetal head was assessed in an axial plane and the diameter of the fourth ventricle was measured. Values in aneuploid and euploid fetuses were compared. Results: The diameter of the fourth ventricle in Trisomy 18, Trisomy 13 and triploidy, but not in Trisomy 21, was significantly higher than in euploid fetuses. In the euploid fetuses the median diameter of the fourth ventricle was 1.9 mm and the 95th percentile was 2.5 mm. The measurements were above the median and the 95th percentile in 25 (78.1%) and 17 (53.1%) cases of Trisomy 18, in 10 (100%) and 8 (80.0%) of Trisomy 13, and in 10 (83.3%) and 10 (83.3%) of triploidy. Conclusions: In Trisomy 18, Trisomy 13 and triploidy the diameter of the fourth ventricle at 11–13 weeks’ gestation is increased.
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adrenal gland length in euploid and Trisomy 18 fetuses at 11 13 weeks
Prenatal Diagnosis, 2011Co-Authors: Yuval Gielchinsky, Ranjit Akolekar, Mona Zvanca, Jesus Rodriguez Calvo, K H NicolaidesAbstract:Objectives To establish a normal range for fetal adrenal gland length at 11–13 weeks' gestation and to investigate whether the length is altered in fetal Trisomy 18. Methods Fetal adrenal gland length was measured by three-dimensional ultrasound in fetuses at low risk of aneuploidies (n = 400) and another group at high risk, including 380 euploid fetuses and 41 with Trisomy 18. The data of the low-risk group were used to establish a reference range of adrenal gland length with crown–rump length (CRL). In the high-risk group, adrenal gland length in the euploid and Trisomy 18 groups was compared. Results In the low-risk group, fetal adrenal gland size increased exponentially with fetal CRL from a median of 2.3 mm at CRL of 45 mm to about 4.4 cm at CRL of 84 mm. In Trisomy 18, the median adrenal gland length for CRL was significantly lower than the median in the low-risk group (−1.37 mm; interquartile range: − 1.67 to − 0.99 mm, p < 0.0001). In euploid fetuses, the adrenal gland size was not significantly from the low-risk group (p = 0.100). Conclusion Trisomy 18 is associated with adrenal gland hypoplasia which is apparent at 11–13 weeks' gestation. Copyright © 2011 John Wiley & Sons, Ltd.
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frontomaxillary and mandibulomaxillary facial angles at 11 0 to 13 6 weeks in fetuses with Trisomy 18
Ultrasound in Obstetrics & Gynecology, 2007Co-Authors: M Borenstein, Nicola Persico, I Strobl, Jiri Sonek, K H NicolaidesAbstract:Objective To define the relative position of the maxilla and mandible in fetuses with Trisomy 18 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 36 fetuses subsequently found to have Trisomy 18, and 200 chromosomally normal fetuses. The frontomaxillary facial (FMF) angle and the mandibulomaxillary facial (MMF) angle were measured in a mid-sagittal view of the fetal face. Results In the chromosomally normal group both the FMF and MMF angles decreased significantly with crown–rump length (CRL). In the Trisomy 18 fetuses the FMF angle was significantly greater and the angle was above the 95th centile of the normal range in 21 (58.3%) cases. In contrast, in Trisomy 18 fetuses the MMF angle was significantly smaller than that in normal fetuses and the angle was below the 5th centile of the normal range in 12 (33.3%) cases. Conclusions Trisomy 18 at 11 + 0 to 13 + 6 weeks of gestation is associated with both mid-facial hypoplasia and micrognathia or retrognathia that can be documented by measurement of the FMF angle and MMF angle, respectively. Copyright © 2007 ISUOG. Published by John Wiley & Sons, Ltd.
Jacob A Canick - One of the best experts on this subject based on the ideXlab platform.
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maternal serum cell free fetal dna levels are increased in cases of Trisomy 13 but not Trisomy 18
Human Genetics, 2003Co-Authors: Tuangsit Wataganara, Erik S. Leshane, Antonio Farina, Jacob A Canick, Geralyn Messerlian, Diana W. BianchiAbstract:Cell-free fetal DNA in the maternal circulation is a potential noninvasive marker for fetal aneuploidies. In previous studies with Y DNA as a fetal-specific marker, levels of circulating fetal DNA were shown to be elevated in women carrying Trisomy 21 fetuses. The goal of this study was to determine whether cell-free fetal DNA levels in the serum of pregnant women carrying fetuses with trisomies 13 or 18 are also elevated. Archived maternal serum samples from five cases of male Trisomy 13 and five cases of male Trisomy 18 were studied. Each case was matched for fetal gender, gestational age, and duration of freezer storage to four or five control serum samples presumed to be euploid after newborn medical record review. Real-time quantitative polymerase chain reaction amplification of DYS1 was performed to measure the amount of male fetal DNA present. Unadjusted median serum fetal DNA concentrations were 97.5 GE/ml (genomic equivalents per milliliter; 29.2–187.0) for the Trisomy 13 cases, 31.5 GE/ml (18.6–77.6) for the Trisomy 18 cases, and 40.3 GE/ml (3.7–127.4) for the controls. Fetal DNA levels in Trisomy 13 cases were significantly elevated (P=0.016) by analysis of variance of the ranks of values within each matched set. In contrast, fetal DNA levels in Trisomy 18 cases were no different from the controls (P=0.244). Second trimester maternal serum analytes currently used in screening do not identify fetuses at high risk for Trisomy 13. Fetal DNA may facilitate noninvasive screening for Trisomy 13 provided that a gender-independent fetal DNA marker can be developed.
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Maternal serum cell-free fetal DNA levels are increased in cases of Trisomy 13 but not Trisomy 18.
Human Genetics, 2003Co-Authors: Tuangsit Wataganara, Erik S. Leshane, Antonio Farina, Jacob A Canick, Geralyn Messerlian, Thomas H. Lee, Diana W. BianchiAbstract:Cell-free fetal DNA in the maternal circulation is a potential noninvasive marker for fetal aneuploidies. In previous studies with Y DNA as a fetal-specific marker, levels of circulating fetal DNA were shown to be elevated in women carrying Trisomy 21 fetuses. The goal of this study was to determine whether cell-free fetal DNA levels in the serum of pregnant women carrying fetuses with trisomies 13 or 18 are also elevated. Archived maternal serum samples from five cases of male Trisomy 13 and five cases of male Trisomy 18 were studied. Each case was matched for fetal gender, gestational age, and duration of freezer storage to four or five control serum samples presumed to be euploid after newborn medical record review. Real-time quantitative polymerase chain reaction amplification of DYS1 was performed to measure the amount of male fetal DNA present. Unadjusted median serum fetal DNA concentrations were 97.5 GE/ml (genomic equivalents per milliliter; 29.2–187.0) for the Trisomy 13 cases, 31.5 GE/ml (18.6–77.6) for the Trisomy 18 cases, and 40.3 GE/ml (3.7–127.4) for the controls. Fetal DNA levels in Trisomy 13 cases were significantly elevated (P=0.016) by analysis of variance of the ranks of values within each matched set. In contrast, fetal DNA levels in Trisomy 18 cases were no different from the controls (P=0.244). Second trimester maternal serum analytes currently used in screening do not identify fetuses at high risk for Trisomy 13. Fetal DNA may facilitate noninvasive screening for Trisomy 13 provided that a gender-independent fetal DNA marker can be developed.
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risk based prenatal screening for Trisomy 18 using alpha fetoprotein unconjugated oestriol and human chorionic gonadotropin
Prenatal Diagnosis, 1995Co-Authors: E Glenn B S Palomaki, Jacob A Canick, James E Haddow, George J Knight, Nicholas J Wald, Anne Kennard, Devereux N Saller, Miriam G Blitzer, Lois H Dickerman, Rachel FisherAbstract:: Nine centres collaborated to examine the feasibility of a screening method for Trisomy 18 that was based on assigning individual risk, using a combination of maternal age and measurements of alpha-fetoprotein (AFP), unconjugated oestriol (uE3), and human chorionic gonadotropin (hCG). Second-trimester measurements of these analytes were obtained from 94 Trisomy 18 pregnancies. In the 89 pregnancies without an associated open defect, the median levels for AFP, uE3, and hCG were 0.65, 0.43 and 0.36 multiples of the unaffected population median, respectively. The strongest individual predictor of risk for Trisomy 18 was uE3, followed by hCG, AFP, and maternal age, in that order. Using a method of individual risk estimation that is based on the three markers and maternal age, 60 per cent of pregnancies associated with Trisomy 18 would be detected at a risk cut-off level of 1:100, with a false-positive rate of about 0.2 per cent. One in nine pregnancies identified as being at increased risk for Trisomy 18 would be expected to have an affected pregnancy. This risk-based screening method is more efficient than an existing method that is based on fixed analyte cut-off levels. Even though the birth prevalence of Trisomy 18 is low, prenatal screening can be justified when performed in conjunction with Down syndrome screening and when a high proportion of women offered amniocentesis have an affected fetus.
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prospective intervention trial of a screening protocol to identify fetal Trisomy 18 using maternal serum alpha fetoprotein unconjugated oestriol and human chorionic gonadotropin
Prenatal Diagnosis, 1992Co-Authors: Glenn E Palomaki, Jacob A Canick, James E Haddow, George J Knight, Devereux N Saller, Diane S PanizzaAbstract:Two prenatal centres in New England, routinely using a screening protocol for fetal Down syndrome that included maternal serum alpha-fetoprotein (AFP), unconjugated oestriol (uE3), and human chorionic gonadotropin (hCG) measurements in combination with maternal age, adopted a separate screening protocol for Trisomy 18. That protocol identified a pregnancy as being at high risk when AFP, uE3, and hCG measurements all fell at or below specified cut-offs (0.75, 0.60, and 0.55 multiples of the median, respectively), regardless of maternal age. Among the first 19 491 women screened, 98 (0.5 per cent) were found to have values which placed them in the high-risk category. Four of these women were subsequently found not to be pregnant. In two others, samples from non-pregnant individuals were found to have been incorrectly submitted for analysis in place of the samples from the pregnant women. All of the remaining 92 women were counselled and offered amniocentesis and fetal karyotyping. Eighty-eight (96 per cent) accepted. Karyotypes or birth outcomes were available on all 92 pregnancies. Six cases of Trisomy 18 and one case of Turner syndrome were identified by karyotype. One case of Trisomy 18 was identified for every 14 unaffected pregnancies offered amniocentesis. In the present prospective study, an estimated 85 per cent of the cases of Trisomy 18 were identified. However, given the small number ofcases (six), the 95 per cent confidence interval for the detection rate is broad (40–95 per cent).
Joan K Morris - One of the best experts on this subject based on the ideXlab platform.
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survival of Trisomy 18 edwards syndrome and Trisomy 13 patau syndrome in england and wales 2004 2011
American Journal of Medical Genetics Part A, 2013Co-Authors: Jianhua Wu, Anna Springett, Joan K MorrisAbstract:The aim of this study is to determine the survival of live births with Trisomy 18 and Trisomy 13 and their variants. Information on live births with Trisomy 18 or Trisomy 13 recorded in the National Down Syndrome Cytogenetic Register (NDSCR) was linked by the NHS Information Centre to obtain information about survival. Survival was known for 326 (88%) of live births withTrisomy18and142(82%)oflivebirthswithTrisomy13born in England and Wales between 2004 and 2011. The median survival time for live births with full Trisomy 18 was 14 days and with full Trisomy 13 was 10 days, the 3-month survival was 20% and 18%, respectively, and the 1-year survival for both syndromes was 8%. The 1-year survival for live births with Trisomy 18 mosaicism (n ¼ 17) was 70%, for those with Trisomy 13mosaicism(n ¼ 5)was80%andforthosewithpartialTrisomy 13 (Robertsonian translocations) (n ¼ 17) was 29%. This study is based on the largest data set on survival for live births with Trisomy 18 and Trisomy 13. Although median survival for these children is2weeksorless, about oneinfivesurvive for 3months ormore and about 1in 12 survive for 1year or more. We suggest that these survival rates are used in counselling as well as the median survival time. 2013 Wiley Periodicals, Inc.
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Survival of Trisomy 18 (Edwards syndrome) and Trisomy 13 (Patau Syndrome) in England and Wales: 2004-2011.
American journal of medical genetics. Part A, 2013Co-Authors: Anna Springett, Joan K MorrisAbstract:The aim of this study is to determine the survival of live births with Trisomy 18 and Trisomy 13 and their variants. Information on live births with Trisomy 18 or Trisomy 13 recorded in the National Down Syndrome Cytogenetic Register (NDSCR) was linked by the NHS Information Centre to obtain information about survival. Survival was known for 326 (88%) of live births with Trisomy 18 and 142 (82%) of live births with Trisomy 13 born in England and Wales between 2004 and 2011. The median survival time for live births with full Trisomy 18 was 14 days and with full Trisomy 13 was 10 days, the 3-month survival was 20% and 18%, respectively, and the 1-year survival for both syndromes was 8%. The 1-year survival for live births with Trisomy 18 mosaicism (n = 17) was 70%, for those with Trisomy 13 mosaicism (n = 5) was 80% and for those with partial Trisomy 13 (Robertsonian translocations) (n = 17) was 29%. This study is based on the largest data set on survival for live births with Trisomy 18 and Trisomy 13. Although median survival for these children is 2 weeks or less, about one in five survive for 3 months or more and about 1 in 12 survive for 1 year or more. We suggest that these survival rates are used in counselling as well as the median survival time.
