Raras
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Trissomia 18
ORPHA:3380CID-10 · Q91.0CID-11 · LD40.2DOENÇA RARA

A trissomia 18 é uma anomalia cromossômica associada à presença de um cromossomo 18 extra e caracterizada por atraso no crescimento, dolicocefalia, fácies característica, anomalias nos membros e malformações viscerais.

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Introdução

O que você precisa saber de cara

📋

A trissomia 18 é uma anomalia cromossômica associada à presença de um cromossomo 18 extra e caracterizada por atraso no crescimento, dolicocefalia, fácies característica, anomalias nos membros e malformações viscerais.

Publicações científicas
125 artigos
Último publicado: 2026 Jan 3

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
1-9 / 1 000 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Europe
Início
Antenatal
+ neonatal
🏥
SUS: Cobertura mínimaScore: 15%
CID-10: Q91.0
🇧🇷Dados SUS / DATASUS
PROCEDIMENTOS SIGTAP (5)
0202010503
Cariótipo — bandas G, Q ou Rgenetic_test
0202010600
Pesquisa de microdeleções/microduplicações por FISHlab_test
0202010694
Sequenciamento completo do exoma (WES)rehabilitation
0202010260
Dosagem de alfa-fetoproteína
0301070040
Atendimento em reabilitação — doenças raras
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Entender a doença

Do básico ao detalhe, leia no seu ritmo

Preparando trilha educativa...

Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

🦴
Ossos e articulações
13 sintomas
😀
Face
9 sintomas
🧠
Neurológico
8 sintomas
🫃
Digestivo
6 sintomas
👁️
Olhos
4 sintomas
📏
Crescimento
4 sintomas

+ 22 sintomas em outras categorias

Características mais comuns

90%prev.
Deficiência intelectual, grave
Muito frequente (99-80%)
90%prev.
Comprometimento cognitivo
Muito frequente (99-80%)
90%prev.
Hélice pontuda
Muito frequente (99-80%)
90%prev.
Occipital proeminente
Muito frequente (99-80%)
90%prev.
Osso pélvico estreito
Muito frequente (99-80%)
90%prev.
Defeito do septo ventricular
Muito frequente (99-80%)
75sintomas
Muito frequente (25)
Frequente (31)
Ocasional (18)
Sem dados (1)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 75 características clínicas mais associadas, ordenadas por frequência.

Deficiência intelectual, graveIntellectual disability, severe
Muito frequente (99-80%)90%
Comprometimento cognitivoCognitive impairment
Muito frequente (99-80%)90%
Hélice pontudaPointed helix
Muito frequente (99-80%)90%
Occipital proeminenteProminent occiput
Muito frequente (99-80%)90%
Osso pélvico estreitoNarrow pelvis bone
Muito frequente (99-80%)90%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico125PubMed
Últimos 10 anos200publicações
Pico202250 papers
Linha do tempo
2026Hoje · 2026🧪 1981Primeiro ensaio clínico📈 2022Ano de pico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Genética e causas

O que está alterado no DNA e como passa nas famílias

🧬

Condição cromossômica — cromossomo 18

Causada pelo excesso de material do cromossomo 18. O fenótipo resulta da alteração na dose de múltiplos genes simultaneamente — não há gene causal único. Diagnóstico por cariótipo, CMA ou FISH.

Região crítica para síndrome de Edwards: 18q12.1→q21.2. Sobrevida mediana ~5-15 dias; ~10% sobrevivem >1 ano.

Genes codificantes
268
no cromossomo 18
Haploinsuficientes
10
perda de dose patogênica
Triplosensíveis
0
excesso de dose patogênico

Genes triplosensíveis (sensíveis ao excesso de dose)

Genes do cromossomo 18 com evidência de sensibilidade à dose segundo ClinGen Dosage Map . São fortes candidatos a explicar parte do fenótipo.

Fontes: ClinGen Dosage Sensitivity Map · GENCODE v44 (GRCh38)

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Pipeline de tratamentos
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
·Pré-clínico14
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 14 ensaios
Carregando informações de tratamento...

Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Trissomia 18

🗺️

Selecione um estado ou use sua localização para ver resultados.

Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.

Pesquisa ativa

Ensaios clínicos abertos e novidades científicas recentes

Pesquisa e ensaios clínicos

26 ensaios clínicos encontrados.

Distribuição por fase
Ver todos no ClinicalTrials.gov
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Publicações mais relevantes

Timeline de publicações
43 papers (10 anos)
#1

Survival in infants with trisomy 18, palliative care and ethical reflections: a single center considerations.

Italian journal of pediatrics2026 Jan 03

Trisomy 18 was once considered a fatal diagnosis due to the presence of cardiac and extracardiac lesions. However, with the increasing use of therapeutic management, 3% to 25% of infants with trisomy 18 may survive beyond their first year, depending on the interventions provided. Currently, there are no clear and widely accepted criteria to guide medical decisions for children with trisomy 18. This means that patients could often be at risk of either over-treatment or therapeutic abandonment. We aimed to explore the effectiveness of intensive and non-intensive treatments in enhancing the clinical burden of disease and survival of children with trisomy 18 syndrome a retrospective monocentric study in Bambino Gesù Children’s Hospital, IRCCS Rome, Italy. We enrolled all patients discharged from our hospital with genetic diagnosis of trisomy 18 between 2018 and 2023. Clinical data from birth were collected and categorized into two groups: those who received intensive treatment and those who underwent a palliative approach. Intensive treatment was defined as corrective heart surgery, use of invasive respiratory support, or at least one hospitalization in an intensive care unit. Survival probabilities at different age intervals were calculated, and the clinical burden of disease was assessed, taking into account device dependence, number of emergency department visits per year, and the daily intake of medications at home 32 patients were enrolled. Children with a low device dependence had significantly higher survival(p= 0,01). Neither palliative nor corrective heart surgery affected survival for patients with major cardiac defects. Conversely in children with minor heart defects surgery significantly increased survival probability(p= 0.01), particularly the corrective approach(p= 0.01). High number of emergency department visits(p=0.03) and high number of drugs taken daily(p=0.02) significantly reduced survival. No significant differences emerged between the two groups in terms of burden of disease. proportional to the initial clinical conditions all treatment options, which may include both comfort care and heart surgery, should be re-evaluated to determine the approach that prioritizes the best interest of each child with trisomy 18.

#2

Calculation of specific risk of trisomy 13: probably still a utopia.

Journal of gynecology obstetrics and human reproduction2026 Feb

In France, legislation regarding pregnancy monitoring considers screening solely for Down syndrom or trisomy 21 (T21). However, health authorities are exploring the possibility of calculating the risks of trisomy 13 (T13) and trisomy 18 (T18), Patau and Edwards syndromes respectively, for patients with indicative serum marker profiles (MSM), to make wider use of the potential of non-invasive prenatal testing (NIPT). Currently, only LifeCycle (revvity®), a software distributed worlwide, offers a specific risk calculation for T13, but its performance has never been assessed. We retrospectively studied 88 cases of T13 from a cohort of over 800,000 patients who underwent first-trimester MSM testing. In each case, in addition to the T21 risk, we calculated the specific risks of T18 and T13 using the LifeCycle software, both with and without the measurement of nuchal translucency for these two aneuploidies. None of the patients with a foetus affected by T13 showed an increased risk for this aneuploidy without simultaneously presenting a high risk for T21 or T18. The specific risk calculation for T13 using LifeCycle does not improve the screening for this aneuploidy.

#3

Trisomy 18 and Ambiguous Genitalia: A Case Report.

Journal of pediatric and adolescent gynecology2026 Feb

Trisomy 18 (Edwards syndrome) is a rare chromosomal disorder characterized by multiple congenital anomalies and poor survival. While the clinical spectrum is well-documented, ambiguous genitalia is not commonly associated with this syndrome and is infrequently reported in the literature. We report the case of a 35-day-old female infant presenting with respiratory distress and ambiguous genitalia. Physical examination revealed multiple dysmorphic features including micrognathia, dysmorphic facial features, low-set ears, agenesis of the left auricle, and limb abnormalities such as rocker-bottom feet. Ambiguous genitalia were staged as Prader and Sinnecker stage 2. Echocardiography revealed complex congenital cardiac defects, and chromosomal analysis confirmed 47,XX,+18. Despite severe anomalies, the patient remained clinically stable with supportive care. A multidisciplinary follow-up was initiated. This case highlights the importance of considering chromosomal anomalies such as Edwards syndrome in neonates with ambiguous genitalia, even in the absence of typical phenotypic findings. The presence of ambiguous genitalia should not preclude the diagnosis of Trisomy 18. Early recognition and genetic confirmation allow for appropriate counseling and management. This case contributes to the limited body of literature documenting ambiguous genitalia in Trisomy 18. Recognizing rare phenotypic presentations expands our understanding of the clinical heterogeneity of Edwards syndrome and supports early cytogenetic evaluation in neonates with multisystem anomalies.

#4

Current prenatal counseling of congenital heart disease in trisomy 18, pediatric cardiologists' perspective: a Fetal Heart Society Research Collaborative Study.

Journal of perinatology : official journal of the California Perinatal Association2026 Mar

Survival outcomes are shifting in trisomy 18 as cardiac disease is being repaired in infancy reminiscent of trisomy 21. The landscape of prenatal counseling related to cardiac disease and trisomy 18 is unknown. A survey was distributed to pediatric cardiologists presenting two scenarios of cardiac disease varying by genetic diagnosis: trisomy 18 vs 21. Respondents were asked if cardiac surgery would be offered and ranked the importance of various factors in decision-making. Sixty three percent described surgery as an option in trisomy 18 compared to 97% in trisomy 21. Genetic diagnosis was most important in trisomy 18 compared to neonatal survival in trisomy 21. Quality of life and survival to discharge were least important in trisomy 18 compared to genetic diagnosis in trisomy 21. Significant variability in prenatal counseling exists for trisomy 18. Indecision may be influenced by the genetic diagnosis, survival, and quality of life.

#5

Current Nationwide Landscape of Cardiac Surgery for Children With Trisomy 18 in Japan.

American journal of medical genetics. Part A2026 Jan

Despite the increasing number of retrospective cohorts describing successful cardiac surgery for children with trisomy 18, no consensus has been reached among healthcare providers regarding cardiac surgery in Japan. This study provided a benchmark to facilitate consensus building by assessing a nationwide surgical database in Japan. A total of 78,179 cardiothoracic surgeries performed for children with congenital heart disease were registered in the Japan Cardiovascular Surgery Database Congenital Section from 2013 to 2021. Of these, 789 (1.0%) surgeries were performed for 502 children with trisomy 18 with increasing yearly trends. Of these, 490 cases (96.1%) of mild-to-moderate cardiac lesions underwent simple surgery, whereas 600 closed-heart surgeries accounted for 76.0%. Approximately 19.4% of the cases were associated with noncardiac lesions that led to postoperative complications at a frequency of 35.3%, whereas cardiac-related postoperative complications accounted for 30.5%. Severe infections occurred postoperatively in approximately 9% of the cases. Forty-two (8.4%) patients died in-hospital, of which the most common cause was heart-related, followed by respiratory-related and infection. This nationwide database analysis may provide valuable information that may serve as a benchmark and enable us to better define the patient attributes that will maximize the effectiveness of cardiac surgery for the vulnerable children.

Publicações recentes

Ver todas no PubMed

📚 EuropePMC63 artigos no totalmostrando 198

2026

Survival in infants with trisomy 18, palliative care and ethical reflections: a single center considerations.

Italian journal of pediatrics
2025

Clinical course and perinatal management of fetuses and newborns affected by trisomy 13 and 18: a retrospective single-centre cohort study.

European journal of pediatrics
2026

Calculation of specific risk of trisomy 13: probably still a utopia.

Journal of gynecology obstetrics and human reproduction
2025

An ethical issue in the prenatal and postnatal management of trisomy 18: a survey of obstetricians.

Annals of medicine
2025

Epigenome-wide profiling of trisomy 18 specific DNA methylation signatures in first-trimester chorionic villi.

Clinical epigenetics
2025

A case of primary cutaneous diffuse large B-cell lymphoma, leg type with MYC rearrangement and high BCL2 protein expression due to trisomy 18.

Nagoya journal of medical science
2025

Multiple, bilateral choroidal macrovessels with visible pulsations in an infant with trisomy 18.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus
2026

Trisomy 18 and Ambiguous Genitalia: A Case Report.

Journal of pediatric and adolescent gynecology
2025

[Between ethics and practice : thoughts about the clinical management of an infant with trisomy 18 (Edwards syndrome)].

Revue medicale de Liege
2025

Cell-free DNA screening for trisomies 21, 18, and 13: Clinical application and accuracy evaluation.

PloS one
2026

Current prenatal counseling of congenital heart disease in trisomy 18, pediatric cardiologists' perspective: a Fetal Heart Society Research Collaborative Study.

Journal of perinatology : official journal of the California Perinatal Association
2025

Edwards syndrome: Neurocognitive and linguistic profile, diagnosis, overlaps and treatment.

Polski merkuriusz lekarski : organ Polskiego Towarzystwa Lekarskiego
2025

Long-Term Survival Among Children With Trisomy 13 and Trisomy 18 by Cytogenetic Status.

JAMA network open
2025

Successful long-term survival of patients with trisomy 18 and hepatoblastoma after cardiac surgery.

Pediatrics international : official journal of the Japan Pediatric Society
2025

Surviving trisomy 18: A case report of a 5-year-old girl.

Medicine
2026

Current Nationwide Landscape of Cardiac Surgery for Children With Trisomy 18 in Japan.

American journal of medical genetics. Part A
2025

Predictive value of the maternal alpha-fetoprotein variant, L2, during the first trimester of pregnancy screening for fetal trisomy 21, trisomy 18, and neural tube defects.

BMC pregnancy and childbirth
2025

Guidance for Caring for Infants and Children With Trisomy 13 and Trisomy 18: Clinical Report.

Pediatrics
2025

Pregnancy outcomes in patients with increased nuchal translucency using non-invasive prenatal testing and first trimester ultrasound.

European journal of obstetrics, gynecology, and reproductive biology
2025

Counseling prior to cfDNA screening: are we giving the right numbers?

Archives of gynecology and obstetrics
2025

[Development and application of a digital PCR-based assay for rapid diagnosis of common fetal chromosomal aneuploidies].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
2025

Comparative performance and health economic analysis of prenatal screening for down syndrome in Fujian province, China.

Scientific reports
2025

[Genetic etiology of trisomy].

Soins. Psychiatrie
2025

Outcomes of heart surgery in neonates with trisomy 13 and 18: a systematic review with metanalysis.

European journal of pediatrics
2025

Chorionic Villus Sampling for Rapid Confirmation of High-Risk NIPT Results for Trisomy 21, 18, and 13.

Prenatal diagnosis
2025

Ethical challenges and justice concerns for infants and children with life-limiting conditions and significant disability, including trisomy 13 and 18.

Seminars in perinatology
2025

Maternal Age-Related Gender Bias in Trisomy 21 and Trisomy 18.

Birth defects research
2025

Establishment of human induced pluripotent stem cell line BAFYi001-A from a patient with Edwards syndrome.

Stem cell research
2025

Concomitant omphalocele, craniorachischisis and ectopic cordis associated with trisomy 18 diagnosed in first trimester.

Taiwanese journal of obstetrics &amp; gynecology
2024

Liveborn children with trisomy 18: A scoping review.

Journal of neonatal-perinatal medicine
2025

Gastrostomy Tube Placement in Patients With Trisomy 13 and 18: Surgical Decision Making and Outcomes.

Journal of pediatric surgery
2025

Parental perspectives of trisomy 18: common threads of a life-limiting diagnosis.

Medical humanities
2025

Early assessment of clinical complexity and home care in patients affected by trisomy 13 and 18.

European journal of pediatrics
2025

Advocating a specific risk calculation of trisomy 18 in case of low maternal serum markers during screening for fetal Down syndrome.

Journal of gynecology obstetrics and human reproduction
2025

Trisomy 18 and the possibility of choice: The importance of Perinatal Hospice's support.

European journal of pediatrics
2025

Accuracy of cell-free fetal DNA in detecting chromosomal anomalies in women experiencing miscarriage: systematic review and meta-analysis.

Ultrasound in obstetrics &amp; gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology
2024

Family-Centered Antenatal Care With a Life-Limiting Fetal Condition: A Developmental Theory-Guided Approach.

Journal of midwifery &amp; women's health
2024

Amniotic fluid glucose concentration as a predictor of fetal trisomy.

The journal of obstetrics and gynaecology research
2024

Parent Narratives Provide Perspectives on the Experience of Care in Trisomy 18.

American journal of medical genetics. Part C, Seminars in medical genetics
2024

Pregnancies with 'double-positive' multiple marker screening results: a population-based study in Ontario, Canada.

BMC pregnancy and childbirth
2024

Surgery for hepatoblastoma in children with trisomy 18: a monocentric study.

Pediatric surgery international
2025

Infertility following trisomic pregnancies: A nationwide cohort study.

International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics
2024

Rapid detection of paternal origin of trisomy 18 by quantitative fluorescent polymerase chain reaction analysis in a fetus associated with increased nuchal translucency thickness and in a pregnancy without an advanced maternal age.

Taiwanese journal of obstetrics &amp; gynecology
2024

Potential efficacy of digital polymerase chain reaction for non-invasive prenatal screening of autosomal aneuploidies: a systematic review and meta-analysis.

BMC pregnancy and childbirth
2024

Management and Outcomes of Hepatoblastoma in Patients With Trisomy 18: A Systematic Review and Pooled Analysis of 70 Patients.

Journal of pediatric surgery
2024

Prevalence and clinical characterization of oral clefts in patients with chromosome trisomy 18.

Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo
2024

Impact of definitive surgery for esophageal atresia on long-term outcomes in patients with trisomy 18.

American journal of medical genetics. Part A
2024

Imaging Findings and MRI Patterns in a Cohort of 18q Chromosomal Abnormalities.

AJNR. American journal of neuroradiology
2024

Pregnant women in UK offered extra opportunity to screen for Edwards' syndrome.

BMJ (Clinical research ed.)
2024

Therapeutic Management and Outcomes of Hepatoblastoma in a Pediatric Patient with Mosaic Edwards Syndrome.

Genes
2024

Fetal trisomy 18 associated with congenital diaphragmatic hernia, choroid plexus cysts, clenched hands and a maternal origin of the extra chromosome 18.

Taiwanese journal of obstetrics &amp; gynecology
2024

Rapid detection of maternal origin of trisomy 18 by quantitative fluorescent polymerase chain reaction in a fetus associated with increased nuchal translucency thickness and omphalocele on first-trimester prenatal ultrasound.

Taiwanese journal of obstetrics &amp; gynecology
2024

False positive non-invasive prenatal testing (NIPT) for trisomy 12 in a pregnancy associated with a favorable fetal outcome and normal hemogram in the pregnant woman.

Taiwanese journal of obstetrics &amp; gynecology
2024

Performance of cell-free DNA testing for common fetal trisomies in triplet pregnancies.

Prenatal diagnosis
2024

Metastatic adrenal gland neuroblastoma in an infant with trisomy 18: A case report.

American journal of medical genetics. Part A
2024

Cases of trisomy 21 and trisomy 18 among historic and prehistoric individuals discovered from ancient DNA.

Nature communications
2024

Contemporary Trends in Cardiac Surgical Care for Trisomy 13 and 18 Patients Admitted to Hospitals in the United States.

The Journal of pediatrics
2024

A Long-Term Survivor of Trisomy 18.

Cureus
2024

The American Association for Thoracic Surgery (AATS) 2023 Expert Consensus Document: Recommendation for the care of children with trisomy 13 or trisomy 18 and a congenital heart defect.

The Journal of thoracic and cardiovascular surgery
2024

3D ultrasound evaluation of fetal ears in prenatal syndrome diagnosis - a comparative study.

Ultraschall in der Medizin (Stuttgart, Germany : 1980)
2023

The outcome of trisomy 18 pregnancies following the legalisation of termination of pregnancy.

Irish medical journal
2024

Double aneuploidy in a 2-month-old male with Edward syndrome and Klinefelter syndrome: a case report.

Annals of medicine and surgery (2012)
2024

[Clinical application of non-invasive prenatal testing for twin pregnancies].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
2024

[Genetic analysis of the false positive trisomy 7 and false negative trisomy 18 by NIPT-PLUS].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
2024

[Prenatal diagnosis and outcome of pregnancy for women with high risks by screening of fetal free DNA from peripheral blood samples].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
2024

Troubleshooting Tips for Diagnosing Complex Fetal Genitourinary Malformations.

Radiographics : a review publication of the Radiological Society of North America, Inc
2024

Atypicality index as an add-on to combined first-trimester screening for chromosomal aberrations.

Ultrasound in obstetrics &amp; gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology
2024

Importance of a detailed anomaly scan after a cfDNA test indicating fetal trisomy 21, 18 or 13.

Archives of gynecology and obstetrics
2023

Patau and Edwards Syndromes in a University Hospital: beyond palliative care.

Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo
2024

Recognizing the importance of adequate follow-up for hearing impairment in trisomy 18.

American journal of medical genetics. Part A
2024

Treatment courses and outcomes of oesophageal atresia in patients with trisomy 18: a case series of 271 patients from a nationwide database in Japan.

Archives of disease in childhood. Fetal and neonatal edition
2024

Successful Treatment for Hepatoblastoma in Trisomy 18: A Case Report.

Journal of pediatric hematology/oncology
2024

Cause, severity, and efficacy of treatment for hearing loss in children with Trisomy 18: A single institution-based retrospective study.

American journal of medical genetics. Part A
2023

Significant improvement in survival outcomes of trisomy 18 with neonatal intensive care compared to non-intensive care: a single-center study.

PeerJ
2024

Comprehensive phenotyping of fetuses with trisomy 18: a perinatal center experience.

Clinical dysmorphology
2023

False positive non-invasive prenatal testing (NIPT) for trisomy 21 in vanishing twin syndrome pregnancy: A comparison of the NIPT results performed in different gestations.

Taiwanese journal of obstetrics &amp; gynecology
2023

The correlation with abnormal fetal outcome and a high level of amniotic fluid alpha-fetoprotein in mid-trimester.

Taiwanese journal of obstetrics &amp; gynecology
2024

Artificial intelligence for prenatal chromosome analysis.

Clinica chimica acta; international journal of clinical chemistry
2024

Maternal age and the risk of fetal aneuploidy: A nationwide cohort study of more than 500 000 singleton pregnancies in Denmark from 2008 to 2017.

Acta obstetricia et gynecologica Scandinavica
2023

Indications, types, and diagnostic implications of prenatal genetic testing in Sub-Saharan Africa: A descriptive study.

PloS one
2023

Economic cost of patients with trisomy 13, 18, and 21 in a tertiary hospital in Thailand.

PloS one
2024

Optimal Surgical Method and Timing for Low-birth-weight Esophageal Atresia Babies: Multi-institutional Observational Study.

Journal of pediatric surgery
2024

The value of combined detailed first-trimester ultrasound-biochemical analysis for screening fetal aneuploidy in the era of non-invasive prenatal testing.

Archives of gynecology and obstetrics
2024

Airway findings in trisomy 13 and trisomy 18: A 10-year retrospective review.

Pediatric pulmonology
2023

Anesthetic Management of Inguinal Hernia Surgery Using a Second-Generation Supraglottic Airway in a Patient With Trisomy 18: A Case Report.

Cureus
2024

Causes of death in individuals with trisomy 18 after the first year of life.

American journal of medical genetics. Part A
2023

A novel artificial intelligence model for fetal facial profile marker measurement during the first trimester.

BMC pregnancy and childbirth
2023

Screen-positive rate in cell free DNA screening for trisomy 21.

Prenatal diagnosis
2023

Wilms Tumor in Child With Trisomy 18 and Horseshoe Kidney.

Journal of pediatric hematology/oncology
2023

Effectiveness of cardiac palliative surgery for trisomy 18 patients with increased pulmonary blood flow.

American journal of medical genetics. Part A
2023

Clinical Potential of Expanded Noninvasive Prenatal Testing for Detection of Aneuploidies and Microdeletion/Microduplication Syndromes.

Molecular diagnosis &amp; therapy
2024

Structured Framework for Multidisciplinary Parent Counseling and Medical Interventions for Fetuses and Infants with Trisomy 13 or Trisomy 18.

American journal of perinatology
2023

Analysis of the results of non-invasive prenatal testing (NIPT) in 545 pregnant women in advanced maternal age.

European review for medical and pharmacological sciences
2023

Effect of maternal polycystic ovary syndrome (PCOS) on screening of aneuploidy in the first and second trimesters.

Journal of ovarian research
2023

The common trisomy syndromes, their cardiac implications, and ethical considerations in care.

Current opinion in pediatrics
2023

[Retrospective analysis of cell-free fetal DNA prenatal testing of maternal peripheral blood].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
2024

Characteristics of hearing impairment in patients with trisomy 18.

American journal of medical genetics. Part A
2023

[Contribution of cytogenetic in the diagnosis of Edwards's syndrome: about 9 cases].

Annales de biologie clinique
2023

Application of QF-PCR Technology Combined With Early Pregnancy Ultrasound in Prenatal Screening for Fetal Chromosomal Aneuploidy.

Alternative therapies in health and medicine
2023

Variants in FREM1 and trisomy 18 identified in a neonatal progeria patient.

Molecular biology reports
2023

Syndromic congenital diaphragmatic hernia: Current incidence and outcome. Analysis from the congenital diaphragmatic hernia study group registry.

Prenatal diagnosis
2023

Prenatal diagnosis of mosaic trisomy 18 and maternal uniparental disomy 18 by amniocentesis in a pregnancy associated with cytogenetic discrepancy in various tissues and a favorable fetal outcome.

Taiwanese journal of obstetrics &amp; gynecology
2023

First Croatian Case of Double Aneuploidy: A Child With Klinefelter and Edwards Syndrome (48,XXY,+18) - Possible Causes and Contributing Factors.

Acta medica (Hradec Kralove)
2023

Incidence and outcome of arrhythmias and electrical disease in patients with Trisomy 18.

American journal of medical genetics. Part A
2023

Non-invasive prenatal testing (NIPT) in twin pregnancies affected by early single fetal demise: A systematic review of NIPT and vanishing twins.

Prenatal diagnosis
2023

Impact of COVID-19 and vaccination on first and second trimester screening results.

Cytokine
2023

Survival of children with trisomy 18 associated with the presence of congenital heart disease and intervention in the Republic of Korea.

BMC pediatrics
2023

Prenatal diagnosis and molecular genetic analysis of recurrent trisomy 18 of maternal origin in two consecutive pregnancies.

Taiwanese journal of obstetrics &amp; gynecology
2023

Otolaryngologic Manifestations of Trisomy 13 and Trisomy 18 in Pediatric Patients.

The Laryngoscope
2023

Association between low fetal fraction in cell-free DNA screening and fetal chromosomal aberrations: A systematic review and meta-analysis.

Prenatal diagnosis
2023

[Prenatal diagnosis and pregnancy outcome of fetuses with rare autosomal trisomies indicated by non-invasive prenatal testing].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
2023

Prenatal screening tests and prevalence of fetal aneuploidies in a tertiary hospital in Thailand.

PloS one
2023

Prenatal echocardiography in Trisomy 18 - the key to diagnosis and further management in the second half of pregnancy.

Ginekologia polska
2023

Pregnancy outcomes and prenatal traditional karyotype analysis with fetal omphalocele.

Minerva obstetrics and gynecology
2023

Cell-free DNA screening for trisomy 21 in twin pregnancy: a large multicenter cohort study.

American journal of obstetrics and gynecology
2023

Difficult airway management in children with trisomy 18: a retrospective single-centre study of incidence, outcomes, and complications.

British journal of anaesthesia
2024

Ethical Implications of Cleft Lip and Palate Repair in Patients with Trisomy 13 and Trisomy 18.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2023

Phenotypic Spectrum of Trisomy 18 Mosaicism: a New Patient and Literature Review.

Clinical laboratory
2023

Ten-year survival of children with trisomy 13 or trisomy 18: a multi-registry European cohort study.

Archives of disease in childhood
2023

Management and survival of foetuses with trisomy 18 in a French retrospective cohort.

Journal of gynecology obstetrics and human reproduction
2023

Maternal prenatal screening programs that predict trisomy 21, trisomy 18, and neural tube defects in offspring.

PloS one
2023

Trisomy 18: disparities of care and outcomes in the State of Texas between 2009 and 2019.

Cardiology in the young
2023

A cross-country comparison of pregnant women's decision-making and perspectives when opting for non-invasive prenatal testing in the Netherlands and Belgium.

Prenatal diagnosis
2023

Fetal Tethered Spinal Cord: Diagnostic Features and Its Association with Congenital Anomalies.

Fetal and pediatric pathology
2023

[Clinical application and evaluation of health economics for non-invasive prenatal testing of fetuses in Tianjin].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
2023

Cytogenetic outcomes following a failed cell-free DNA screen: a population-based retrospective cohort study of 35,146 singleton pregnancies.

American journal of obstetrics and gynecology
2023

Seizures in trisomy 18: Prevalence, description, and treatment.

American journal of medical genetics. Part A
2022

Fetal Cerebellar Growth Curves Based on Biomathematics in Normally Developing Japanese Fetuses and Fetuses with Trisomy 18.

Acta medica Okayama
2023

Prenatal and fetal diagnosis of trisomy 18 after low-risk cell-free fetal DNA screening: A report of four cases.

Prenatal diagnosis
2022

Positive predictive values and outcomes for uninformative cell-free DNA tests: An Italian multicentric Cytogenetic and cytogenomic Audit of diagnOstic testing (ICARO study).

Prenatal diagnosis
2022

Survival rates and outcomes of pregnancies with prenatal diagnosis of trisomy 18: A 16-year experience from a public hospital in South Africa.

Prenatal diagnosis
2023

Surgical History and Outcomes in Trisomy 13 and 18: A Thirty-year Review.

Journal of pediatric surgery
2022

Noninvasive Prenatal Screening for Trisomy 21 in Patients with a Vanishing Twin.

Genes
2022

Positive predictive value of a single nucleotide polymorphism (SNP)-based NIPT for aneuploidy in twins: Experience from clinical practice.

Prenatal diagnosis
2022

[Clinical evaluation of true and false positive Z values among high-risk cases screened by non-invasive prenatal testing].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
2022

Clinical value of fetal facial profile markers during the first trimester.

BMC pregnancy and childbirth
2022

Circulating Cell-free DNA and Screening for Trisomies.

The New England journal of medicine
2022

The accuracy and feasibility of noninvasive prenatal testing in a consecutive series of 20,626 pregnancies with different clinical characteristics.

Journal of clinical laboratory analysis
2022

[Analysis of the factors influencing positive predictive value of noninvasive prenatal testing for chromosome aneuploidies].

Zhonghua yi xue za zhi
2022

Diagnostic value of maternal alpha-fetoprotein variants in second-trimester biochemical screening for trisomy 21 and 18.

Scientific reports
2022

Whole genome non-invasive prenatal testing in prenatal screening algorithm: clinical experience from 12,700 pregnancies.

BMC pregnancy and childbirth
2022

Misdiagnosis of trisomy 13 and trisomy 18 is more common than anticipated.

American journal of medical genetics. Part A
2021

The Use of Caffeine for Apnoea Associated with Trisomy 13 and Trisomy 18.

Irish medical journal
2022

A rare case report of Edwards syndrome with immature teratoma in submandibular region and literature review.

Folia medica
2022

Mosaic trisomy 18 at amniocentesis associated with a favorable fetal outcome in a pregnancy.

Taiwanese journal of obstetrics &amp; gynecology
2022

Cytogenetic discrepancy between uncultured amniocytes and cultured amniocytes in mosaic trisomy 18 at amniocentesis in a pregnancy with a favorable fetal outcome and maternal uniparental disomy 18.

Taiwanese journal of obstetrics &amp; gynecology
2022

[Early warning of low maternal unconjugated estriol level by prenatal screening for fetus with X-linked ichthyosis].

Zhonghua fu chan ke za zhi
2022

Very low birth weight infants with congenital heart disease: A multicenter cohort study in Japan.

Journal of cardiology
2022

An improved deep convolutional neural network architecture for chromosome abnormality detection using hybrid optimization model.

Microscopy research and technique
2022

Noninvasive prenatal screening using cell-free DNA.

Journal of the American Association of Nurse Practitioners
2022

Survival Outcomes of Infants with the Trisomy 13 or Trisomy 18 Syndromes.

The Journal of pediatrics
2022

Systematic evidence-based review: The application of noninvasive prenatal screening using cell-free DNA in general-risk pregnancies.

Genetics in medicine : official journal of the American College of Medical Genetics
2022

Detection of maternal origin of fetal trisomy 18 in a pregnancy with incidental detection of low-level mosaicism for X aneuploidy in a 46-year-old woman.

Taiwanese journal of obstetrics &amp; gynecology
2022

Cell-free DNA analysis for noninvasive examination of trisomy: comparing 2 targeted methods.

American journal of obstetrics and gynecology
2023

Prenatal diagnosis of acrania/exencephaly/anencephaly sequence (AEAS): additional structural and genetic anomalies.

Archives of gynecology and obstetrics
2022

Trisomy 18-when the diagnosis is compatible with life.

European journal of pediatrics
2022

Discordant cfDNA-NIPT result unraveling a trisomy 12 chronic lymphocytic leukemia in a 37 years old pregnant woman.

Prenatal diagnosis
2022

Cerebral white matter abnormalities associated with chromosome 18q duplication.

Brain &amp; development
2022

Perinatal Outcomes of Fetuses and Infants Diagnosed with Trisomy 13 or Trisomy 18.

The Journal of pediatrics
2022

Future Perspectives in Oxidative Stress in Trisomy 13 and 18 Evaluation.

Journal of clinical medicine
2022

[Retrospective and cost-effective analysis of the result of Changsha Municipal Public Welfare Program by Noninvasive Prenatal Testing].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
2022

A study on non-invasive prenatal screening for the detection of aneuploidy.

Ginekologia polska
2022

Implementation of non-invasive prenatal testing within a national UK antenatal screening programme: Impact on women's choices.

Prenatal diagnosis
2022

A machine learning technology to improve the risk of non-invasive prenatal tests.

Technology and health care : official journal of the European Society for Engineering and Medicine
2022

Primary cell-free DNA screening or contingent screening for the common trisomies: a response.

American journal of obstetrics and gynecology
2022

Prenatal phenotypic spectrum of full trisomy 18 in an Indian cohort.

American journal of medical genetics. Part A
2022

Morbidity and mortality following noncardiac surgical procedures among children with autosomal trisomy.

Paediatric anaesthesia
2022

Cell-free DNA screening for trisomies 21, 18, and 13 in pregnancies at low and high risk for aneuploidy with genetic confirmation.

American journal of obstetrics and gynecology
2022

Unilateral internal carotid artery absence in trisomy 18.

Brain &amp; development
2022

The impact of prenatal screening tests on prenatal diagnosis in Taiwan from 2006 to 2019: a regional cohort study.

BMC pregnancy and childbirth
2022

Cardiac Interventions for Patients With Trisomy 13 and Trisomy 18: Experience, Ethical Issues, Communication, and the Case for Individualized Family-Centered Care.

World journal for pediatric &amp; congenital heart surgery
2022

Improving survival in patients with trisomy 18.

American journal of medical genetics. Part A
2022

Umbilical artery pulsatility index and half-peak systolic velocity in second- and third-trimester fetuses with trisomy 18 and 13.

Journal of perinatal medicine
2021

Clinical Application of Noninvasive Prenatal Testing for Pregnant Women with Assisted Reproductive Pregnancy.

International journal of women's health
2021

[Analysis to the failure rate and causes of noninvasive prenatal testing based on high-throughput sequencing].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
2022

Underestimation of Trisomy 18 and 13 Syndromes in Vital Statistics from Inadequate Death Certificates.

Neonatology
2022

Neurosurgical Evaluation and Management of Patients with Chromosomal Abnormalities.

Neurosurgery clinics of North America
2022

Effect of preexamination conditions in a centralized-testing model of non-invasive prenatal screening.

Clinical chemistry and laboratory medicine
2022

Caffeine for the Treatment of Central Apnea in Trisomy 18: A Case Study in the Novel Use of Methylxanthines in Palliative Transport.

Journal of palliative medicine
2022

Pulmonary vascular resistance and compliance in individuals with trisomy 18.

American journal of medical genetics. Part A
2022

What are the ethical issues involved in noninvasive prenatal testing in Japan?

The journal of obstetrics and gynaecology research
2021

[Analysis of the results of chromosomal trisomies 21, 18 and 13 screening among 40 628 women by non-invasive prenatal testing].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
2021

[Congenital heart disease associated with the most prevalent chromosomal syndromes: a literature review].

Archivos peruanos de cardiologia y cirugia cardiovascular
2022

Audit of the first > 7500 noninvasive prenatal aneuploidy tests in a Swiss genetics center.

Archives of gynecology and obstetrics
2021

[Is it necessary to choose NIPT-plus for pregnant women who opt for non-invasive prenatal testing? A study of 50 cases].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
2021

Assessment and Clinical Utility of a Non-Next-Generation Sequencing-Based Non-Invasive Prenatal Testing Technology.

Current issues in molecular biology
2021

Survival outcomes of very low birth weight infants with trisomy 18.

American journal of medical genetics. Part A
2021

Trisomy 18 Trends over the Last 20 Years.

The Journal of pediatrics
2021

VACTERL Associated with a Rare Limb Anomaly Combined with Edward (Trisomy 18) Syndrome.

Journal of Indian Association of Pediatric Surgeons
2021

Management of Children with the Trisomy 18 and Trisomy 13 Syndromes: Is there a Shift in the Paradigm of Care?

American journal of perinatology
2021

Double outlet right ventricle in the setting of hypoplastic left ventricle, mitral atresia, interruption of aortic arch, and uncommon intra-atrial anomalies in Trisomy 18.

Echocardiography (Mount Kisco, N.Y.)
2021

Application of Multiple Short Tandem Repeat Loci for Rapid Diagnosis of Down Syndrome and Edward Syndrome.

Clinical laboratory
2021

Contingent prenatal screening for frequent aneuploidies with cell-free fetal DNA analysis.

Taiwanese journal of obstetrics &amp; gynecology
2021

Single-cell chromatin accessibility landscape of human umbilical cord blood in trisomy 18 syndrome.

Human genomics
2021

Society for Maternal-Fetal Medicine Consult Series #57: Evaluation and management of isolated soft ultrasound markers for aneuploidy in the second trimester: (Replaces Consults #10, Single umbilical artery, October 2010; #16, Isolated echogenic bowel diagnosed on second-trimester ultrasound, August 2011; #17, Evaluation and management of isolated renal pelviectasis on second-trimester ultrasound, December 2011; #25, Isolated fetal choroid plexus cysts, April 2013; #27, Isolated echogenic intracardiac focus, August 2013).

American journal of obstetrics and gynecology
2021

The introduction of clinical genetic testing in Ethiopia: Experiences and lessons learned.

American journal of medical genetics. Part A
2021

A visual tool inclusive of fetal ultrasound and autopsy findings to reach a balanced approach to counseling on trisomy 18 in early second trimester.

Archives of gynecology and obstetrics
2021

Medical and surgical interventions and outcomes for infants with trisomy 18 (T18) or trisomy 13 (T13) at children's hospitals neonatal intensive care units (NICUs).

Journal of perinatology : official journal of the California Perinatal Association

Associações

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Comunidades

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Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

Referências e fontes

Bases de dados externas citadas neste artigo

Publicações científicas

Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.

  1. Survival in infants with trisomy 18, palliative care and ethical reflections: a single center considerations.
    Italian journal of pediatrics· 2026· PMID 41485045mais citado
  2. Calculation of specific risk of trisomy 13: probably still a utopia.
    Journal of gynecology obstetrics and human reproduction· 2026· PMID 41352483mais citado
  3. Trisomy 18 and Ambiguous Genitalia: A Case Report.
    Journal of pediatric and adolescent gynecology· 2026· PMID 41072718mais citado
  4. Current prenatal counseling of congenital heart disease in trisomy 18, pediatric cardiologists' perspective: a Fetal Heart Society Research Collaborative Study.
    Journal of perinatology : official journal of the California Perinatal Association· 2026· PMID 40968138mais citado
  5. Current Nationwide Landscape of Cardiac Surgery for Children With Trisomy 18 in Japan.
    American journal of medical genetics. Part A· 2026· PMID 40831321mais citado
  6. Updates in Trisomy 18.
    Neoreviews· 2025· PMID 41319979recente
  7. Epigenome-wide profiling of trisomy 18 specific DNA methylation signatures in first-trimester chorionic villi.
    Clin Epigenetics· 2025· PMID 41257854recente
  8. Outcomes of heart surgery in neonates with trisomy 13 and 18: a systematic review with metanalysis.
    Eur J Pediatr· 2025· PMID 40537699recente
  9. Parent Narratives Provide Perspectives on the Experience of Care in Trisomy 18.
    Am J Med Genet C Semin Med Genet· 2024· PMID 39257320recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:3380(Orphanet)
  2. MONDO:0018071(MONDO)
  3. GARD:6321(GARD (NIH))
  4. Busca completa no PubMed(PubMed)
  5. Artigo Wikipedia(Wikipedia)
  6. Q457737(Wikidata)

Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.

Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar

Trissomia 18
Compêndio · Raras BR

Trissomia 18

ORPHA:3380 · MONDO:0018071
Prevalência
1-9 / 1 000 000
Herança
Not applicable, Unknown
CID-10
Q91.0 · Trissomia 18, não-disjunção meiótica
CID-11
Início
Antenatal, Neonatal
Prevalência
0.0 (Europe)
MedGen
UMLS
C0152096
EuropePMC
Wikidata
Wikipedia
Papers 10a
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