The risk of fetal loss following a prenatal diagnosis of trisomy 13 or trisomy 18 (original) (raw)
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Journal of Maternal-fetal & Neonatal Medicine, 2010
Objective. Changes in prenatal diagnosis and maternal age are likely to have an impact on live born prevalence of trisomies 13 and 18. We investigated trends in diagnosis, prevalence, and survival in these conditions. Methods. A population-based study of one UK health region in 1985-2007 using a well-established congenital abnormality register. Individual records were reviewed and live birth and maternal age data obtained. Results. Pregnancies with trisomies 13 and 18 increased from 0.08 to 0.23 per 1000 registered births and 0.20 to 0.65 per 1000 registered births, respectively. Prenatal diagnosis increased and was associated with high termination rates. Live born prevalence with trisomy 13 decreased from 0.05 to 0.03 per 1000 live births and with trisomy 18 from 0.16 to 0.10 per 1000 live births. Postnatal survival remains poor: one baby (3%) with trisomy 13 and four (6%) with trisomy 18 survived the first year. The percentage of mothers over 35 years increased from 6 to 15%. Conclusions. Changes in prenatal screening and maternal age have had dramatic effects on the live born prevalence of trisomies 13 and 18. Infant survival remains largely unchanged with the majority dying in the neonatal period.
Trisomy 13 and 18—Prevalence and mortality—A multi‐registry population based analysis
American Journal of Medical Genetics Part A
DISCLAIMER The findings and conclusions in this report are those of the authors and do not necessarily represent the official position of the Centers for Disease Control and Prevention. This analysis has been replicated by Joan K. Morris. We can declare that Dr. Saeed Dastgiri is the Programme Director of TROCA, a hospital-based register (a member of ICBDSR and EUROCAT), sole purpose of which is medical research and to collect data on birth defects. Dr. Dastgiri is not acting as an official representative or on behalf of the Government. DATA AVAILABILITY STATEMENT The data that support the findings of this study are available from the corresponding author upon reasonable request, with the permission of the ICBDSR group.
Perinatal management of trisomy 18: a survey of obstetricians in Australia, New Zealand and the UK
Prenatal diagnosis, 2014
ObjectiveThe objective of this study was to explore the attitudes of obstetricians in Australia, New Zealand and the UK towards prenatally diagnosed trisomy 18 (T18).The objective of this study was to explore the attitudes of obstetricians in Australia, New Zealand and the UK towards prenatally diagnosed trisomy 18 (T18).MethodObstetricians were contacted by email and invited to participate in an anonymous electronic survey.Obstetricians were contacted by email and invited to participate in an anonymous electronic survey.ResultsSurvey responses were obtained from 1018/3717 (27%) practicing obstetricians/gynaecologists. Most (60%) had managed a case of T18 in the last 2 years. Eighty-five per cent believed that T18 was a ‘lethal malformation’, although 38% expected at least half of liveborn infants to survive for more than 1 week. Twenty-one per cent indicated that a vegetative existence was the best developmental outcome for surviving children. In a case of antenatally diagnosed T18, 95% of obstetricians would provide a mother with the option of termination. If requested, 99% would provide maternal-focused obstetric care (aimed at maternal wellbeing rather than fetal survival), whereas 80% would provide fetal-oriented obstetric care (to maximise fetal survival). Twenty-eight per cent would never discuss the option of caesarean; 21% would always discuss this option. Management options, attitudes and knowledge of T18 were associated with location, practice type, gender and religion of obstetricians.Survey responses were obtained from 1018/3717 (27%) practicing obstetricians/gynaecologists. Most (60%) had managed a case of T18 in the last 2 years. Eighty-five per cent believed that T18 was a ‘lethal malformation’, although 38% expected at least half of liveborn infants to survive for more than 1 week. Twenty-one per cent indicated that a vegetative existence was the best developmental outcome for surviving children. In a case of antenatally diagnosed T18, 95% of obstetricians would provide a mother with the option of termination. If requested, 99% would provide maternal-focused obstetric care (aimed at maternal wellbeing rather than fetal survival), whereas 80% would provide fetal-oriented obstetric care (to maximise fetal survival). Twenty-eight per cent would never discuss the option of caesarean; 21% would always discuss this option. Management options, attitudes and knowledge of T18 were associated with location, practice type, gender and religion of obstetricians.ConclusionThere is variability in obstetricians' attitudes towards T18, with significant implications for management of affected pregnancies. © 2013 The Authors. Prenatal Diagnosis published by John Wiley & Sons, Ltd.There is variability in obstetricians' attitudes towards T18, with significant implications for management of affected pregnancies. © 2013 The Authors. Prenatal Diagnosis published by John Wiley & Sons, Ltd.
Intrauterine death in singleton pregnancies with trisomy 21, 18, 13 and monosomy X
Revista da Associação Médica Brasileira, 2016
Summary A retrospective study from November 2004 to May 2012, conducted at the Obstetric Clinic of Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo (HC-FMUSP), which included 92 singleton pregnancies with prenatal diagnosis of trisomy of chromosome 21 (T21), 18, 13 (T13/18) and monosomy X (45X), with diagnosis performed until the 26th week of pregnancy. The aim of the study was to describe the frequency and to investigate predictors of spontaneous fetal death (FD). Diagnosis (T21, n=36; T13/18, n=25; 45X, n=31) was made at a mean gestational age of 18.3±3.7 weeks, through chorionic villus biopsy (n=22,24%), amniocentesis (n=66, 72%) and cordocentesis (n=4, 4%). Major malformations were present in 45 (49%); with hydrops in 32 (35%) fetuses, more frequently in 45X [n=24/31, 77% vs. T21 (n=6/36, 17%) and T13/18 (n=2/25, 8%), p<0.001]. Specialized fetal echocardiography was performed in 60% (55/92). Of these, 60% (33/55) showed changes in heart morphology and/o...
Frequency of prenatal determination of 13, 18 and 21 trisomies and link with risk factors
Biologija, 2014
Abnormalities of number of chromosomes are diagnosed from amniotic fluid, which is taken by using an invasive prenatal method-amniocentesis, and modern diagnostic methods such as molecular cytogenetic analysis (FISH) and cytogenetic method, diagnosis of karyotype, by using G-staining method. In order to analyse the main risk factors that determine the frequency of Patau, Edwards and Down syndromes in the analysed group and to evaluate the variety of changeovers of chromosomes structure, the retrospective analysis of patient's case records data was performed. The aforementioned patients were examined in the Hospital of Lithuanian University of Health Sciences Kaunas Clinic in 2007-2011. The received data is processed by using Statistical Package for Social Sciences (T-Test). The aim of the study is to evaluate, by using cytogenetic and molecular cytogenetic research methods, the frequency of prenatal trisomies determination of the thirteenth (13), the eighteenth (18), and the twenty first (21) chromosomes for the patients, who during 2007-2011 had genetic consultations in the Hospital of Lithuanian University of Health Sciences Kaunas Clinics and to determine the connection between these trisomies and risk factors. During 2007-2011 1 156 patients were examined and 49 (4.2%) alterations of karyotype were determined, out of which 30 (61%) are related to Down syndrome, 14 (29%) to Edwards syndrome and 5 (10%) to Patau syndrome. After studying the data of questionnaires and case records, on the basis of the statistical reliability of data analysis, the influence of the main reproductive factors (abortions, contraceptives) and other risk or environmental factors (smoking, genetic diseases and use of medicines) to fetal anomalies was determined.
American Journal of Medical Genetics, 1994
The natural history of trisomy 18 and trisomy 13 was investigated using data derived from parent questionnaires and medical records from 98 families with an index case of trisomy 18 and 32 families with an index case of trisomy 13. Data are presented on pregnancy, delivery, survival, medical complications, immunizations, growth, cause of death, cytogenetics, and recurrence risk. Half of the trisomy 18 babies were delivered by C-section. Fetal distress was a factor in half, and the only reason in a third of C-section deliveries. One minute Apgar scores were significantly lower in C-section and breech deliveries. There were more small for gestational age babies than in the general population, but most of the low birth weight newborns were small for gestational age, unlike the general population. Survival in this group of children was better than in other studies due to ascertainment bias. There were more girls than boys at all ages for both conditions, and the sex ratio decreased with time. Growth curves for length, weight, head circumference, and weight vs height are provided. Long-term survival did not appear to be due to mosaicism. We found no adverse reactions attributable to immunizations. At age 1 year there was an average of approximately 2 operations per living child. We report the second case of successful major cardiac surgery in a trisomy 18 child. Almost 70% of deaths were attributed to cardiopulmonary arrest. The sibling recurrence risk for trisomy 18 or trisomy 13 was 0.55%. Q 1994 Wiley-Liss, Inc.
True fetal mosaicism of Trisomy 13
The Patau-syndrome is an autosomal hereditary disease, caused by an additional copy of chromosome 13 in the karyotype of the fetus. This chromosomal disease can express itself in two forms: a full one and a mosaic one. Trisomy 13 presents either as a free chromosome 13 trisomy or associated with a chromosomal Robertsonian translocation on the 14 th or 15 th chromosome. In the mosaic form only some of the cells carry the overload with the additional chromosome 13. Mosaic trisomy 13 shows a highly variable phenotype, displaying from mild to severe affectations. The present patient is 33 years old, primipara, whose pregnancy shows abnormal findings in the fetal morphology exam. The amniocentesis results present aneuploid variation (mosaic 29% 13p13q34, 115.17Mb), which is associated with the syndrome of trisomy 13. The incidence of this syndrome is 1:22700. The genome sequencing showed 47, XХ, +13.seq [GRCh37/hg19] (13) ×3 (mosaic 29%). Based on the ultrasound scan, the laboratory results and genome analysis, the team concluded it was a case of trisomy 13 and the parents decided to terminate the pregnancy.
Trisomy 18: Changes in sex ratio during intrauterine life
American Journal of Medical Genetics Part A, 2006
Trisomy 18: changes in sex ratio during intrauterine life Niedrist, D; Riegel, M; Achermann, J; Rousson, V; Schinzel, A Niedrist, D; Riegel, M; Achermann, J; Rousson, V; Schinzel, A (2006). Trisomy 18: changes in sex ratio during intrauterine life.