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American Journal of Medical Genetics.... Aug 2017Individuals with trisomic conditions like Down syndrome and Edwards syndrome are prone to certain types of malignancy. However, for Patau syndrome (constitutional... (Meta-Analysis)
Meta-Analysis Review
Individuals with trisomic conditions like Down syndrome and Edwards syndrome are prone to certain types of malignancy. However, for Patau syndrome (constitutional trisomy 13), which occurs in 1/10,000-1/20,000 live births, the tumor profile has not been well characterized. An awareness of susceptibility to malignancies can improve care of affected individuals, as well as further our understanding of the contribution of trisomy to carcinogenesis. Therefore, we conducted an extensive review of the literature; we found 17 malignancies reported in individuals with Patau syndrome. These comprised eight embryonic tumors, three leukemias, two malignant germ cell tumors, two carcinomas, a malignant brain tumor, and a sarcoma. Benign tumors were mainly extragonadal teratomas. The small number of reported malignant tumors suggests that there is not an increased risk of cancer in the context of trisomy 13. The tumor profile in Patau syndrome differs from that observed in Edwards syndrome (trisomy 18) and Down syndrome (trisomy 21), suggesting that the supernumerary chromosome 13 could promote particular tumor formations as it does particular malformations. No general and direct relationships of tumor occurrence with organ weight, congenital malformations, histological changes, or presence of tumor suppressor genes on chromosome 13 were observed. However, some tumors were found in tissues whose growth and development are controlled by genes mapping to chromosome 13. Recent reports of successful outcomes following surgical treatment and adapted chemotherapy indicate that treatment of cancer is possible in Patau syndrome.
Topics: Humans; Neoplasms; Trisomy; Trisomy 13 Syndrome
PubMed: 28544599
DOI: 10.1002/ajmg.a.38294 -
Revista Paulista de Pediatria : Orgao... 2023To evaluate radiological (gestational and perinatal) and neonatal signs of patients with Patau syndrome and semilobar holoprosencephaly, as well as to report the...
OBJECTIVE
To evaluate radiological (gestational and perinatal) and neonatal signs of patients with Patau syndrome and semilobar holoprosencephaly, as well as to report the association of both pathologies.
CASE DESCRIPTION
This case report is about a female infant, born at term with trisomy of the chromosome 13 and semilobar holoprosencephaly, with thalamic fusion and a single cerebral ventricle, in addition to several other changes that worsened the patient's prognosis.
COMMENTS
Chromosome 13 trisomy is a genetic alteration that leads to the symptoms that determines Patau syndrome. In this syndrome, cardiovascular, urogenital, central nervous system, facial structure and intellectual impairment are common, in addition to problems in limb formation, such as decreased humerus and femur length, polydactyly, hypotelorism and low ear implantation. It is estimated, however, that holoprosencephaly is present in only 24 to 45% of the patients with trisomy 13.
Topics: Infant, Newborn; Pregnancy; Infant; Humans; Female; Holoprosencephaly; Trisomy 13 Syndrome; Trisomy; Polydactyly; Mutation; Chromosomes, Human, Pair 13
PubMed: 36921175
DOI: 10.1590/1984-0462/2023/41/2022027 -
BMJ Open Jan 2016To measure test accuracy of non-invasive prenatal testing (NIPT) for Down, Edwards and Patau syndromes using cell-free fetal DNA and identify factors affecting accuracy. (Meta-Analysis)
Meta-Analysis Review
OBJECTIVE
To measure test accuracy of non-invasive prenatal testing (NIPT) for Down, Edwards and Patau syndromes using cell-free fetal DNA and identify factors affecting accuracy.
DESIGN
Systematic review and meta-analysis of published studies.
DATA SOURCES
PubMed, Ovid Medline, Ovid Embase and the Cochrane Library published from 1997 to 9 February 2015, followed by weekly autoalerts until 1 April 2015.
ELIGIBILITY CRITERIA FOR SELECTING STUDIES
English language journal articles describing case-control studies with ≥ 15 trisomy cases or cohort studies with ≥ 50 pregnant women who had been given NIPT and a reference standard.
RESULTS
41, 37 and 30 studies of 2012 publications retrieved were included in the review for Down, Edwards and Patau syndromes. Quality appraisal identified high risk of bias in included studies, funnel plots showed evidence of publication bias. Pooled sensitivity was 99.3% (95% CI 98.9% to 99.6%) for Down, 97.4% (95.8% to 98.4%) for Edwards, and 97.4% (86.1% to 99.6%) for Patau syndrome. The pooled specificity was 99.9% (99.9% to 100%) for all three trisomies. In 100,000 pregnancies in the general obstetric population we would expect 417, 89 and 40 cases of Downs, Edwards and Patau syndromes to be detected by NIPT, with 94, 154 and 42 false positive results. Sensitivity was lower in twin than singleton pregnancies, reduced by 9% for Down, 28% for Edwards and 22% for Patau syndrome. Pooled sensitivity was also lower in the first trimester of pregnancy, in studies in the general obstetric population, and in cohort studies with consecutive enrolment.
CONCLUSIONS
NIPT using cell-free fetal DNA has very high sensitivity and specificity for Down syndrome, with slightly lower sensitivity for Edwards and Patau syndrome. However, it is not 100% accurate and should not be used as a final diagnosis for positive cases.
TRIAL REGISTRATION NUMBER
CRD42014014947.
Topics: Biomarkers; Chromosome Disorders; Chromosomes, Human, Pair 13; Chromosomes, Human, Pair 18; DNA; Down Syndrome; Female; Humans; Pregnancy; Prenatal Diagnosis; Sensitivity and Specificity; Trisomy; Trisomy 13 Syndrome; Trisomy 18 Syndrome
PubMed: 26781507
DOI: 10.1136/bmjopen-2015-010002 -
American Journal of Obstetrics and... Dec 2020
Review
Topics: Abortion, Induced; Craniofacial Abnormalities; Female; Hedgehog Proteins; Holoprosencephaly; Humans; Microarray Analysis; Pregnancy; Prognosis; Triploidy; Trisomy 13 Syndrome; Trisomy 18 Syndrome; Ultrasonography, Prenatal
PubMed: 33168217
DOI: 10.1016/j.ajog.2020.08.178 -
The Journal of International Advanced... Nov 2022This study aimed to present the first cochlear implant surgery performed on a patient with Patau syndrome. In the auditory brainstem Response test performed on the 37th...
This study aimed to present the first cochlear implant surgery performed on a patient with Patau syndrome. In the auditory brainstem Response test performed on the 37th month, I-III-V waves at 100 dB were not obtained in the right ear, while I-III-V waves at 90 dB were obtained in the left ear. In the free-field audiometry test done in the first year, the threshold value of cochlear implantation was found to be 45 dB. While the Meaningful Auditory Integration Scale test result was 35/40, the Meaningful Use of Speech Scale test result was 13/40. The cochlear implantation was observed and found that hearing results are good and had a positive effect on the quality of life.
Topics: Child; Humans; Cochlear Implantation; Quality of Life; Trisomy 13 Syndrome; Cochlear Implants; Evoked Potentials, Auditory, Brain Stem; Speech Perception
PubMed: 36349678
DOI: 10.5152/iao.2022.20074 -
Pediatrics in Review Jan 2023
Topics: Humans; Trisomy 13 Syndrome; Trisomy
PubMed: 36587017
DOI: 10.1542/pir.2022-005517 -
Australian Family Physician Oct 2017Non-invasive prenatal testing (NIPT), also known as cell-free DNA testing and non-invasive prenatal screening (NIPS), is an important addition to the range of screening...
BACKGROUND
Non-invasive prenatal testing (NIPT), also known as cell-free DNA testing and non-invasive prenatal screening (NIPS), is an important addition to the range of screening tests for fetal chromosomal abnormalities. For trisomy 21 in particular, NIPT is superior to other screening modalities. However, NIPT has limitations and complexities that requesting clinicians and their patients should understand.
OBJECTIVE
This review article will briefly describe the technical basis of NIPT assays and compare the performance characteristics of NIPT with existing screening tests. The clinical use of NIPT will also be discussed.
DISCUSSION
NIPT is now an established option for antenatal screening for trisomy 21, 18, 13 and other selected chromosomal abnormalities. If used appropriately, it increases the detection rate for fetal chromosomal abnormalities, while decreasing the number of invasive tests required. An understanding of the scientific basis of NIPT, and the appropriate clinical use and limitations, will enable medical practitioners to provide optimal antenatal screening.
Topics: Adult; Cell-Free Nucleic Acids; Down Syndrome; Female; Genetic Testing; Humans; Pregnancy; Prenatal Diagnosis; Trisomy 13 Syndrome; Trisomy 18 Syndrome
PubMed: 29036772
DOI: No ID Found -
Ryoikibetsu Shokogun Shirizu 2000
Review
Topics: Abnormalities, Multiple; Chromosomes, Human, Pair 13; Craniofacial Abnormalities; Diagnosis, Differential; Eye Abnormalities; Holoprosencephaly; Humans; Infant; Infant, Newborn; Intellectual Disability; Polydactyly; Prognosis; Syndrome; Trisomy; Urogenital Abnormalities
PubMed: 11057250
DOI: No ID Found -
American Journal of Medical Genetics.... Mar 2021Children with trisomy 13 and 18 (previously deemed "incompatible with life") are living longer, warranting a comprehensive overview of their unique comorbidities and... (Review)
Review
Children with trisomy 13 and 18 (previously deemed "incompatible with life") are living longer, warranting a comprehensive overview of their unique comorbidities and complex care needs. This Review Article provides a summation of the recent literature, informed by the study team's Interdisciplinary Trisomy Translational Program consisting of representatives from: cardiology, cardiothoracic surgery, neonatology, otolaryngology, intensive care, neurology, social work, chaplaincy, nursing, and palliative care. Medical interventions are discussed in the context of decisional-paradigms and whole-family considerations. The communication format, educational endeavors, and lessons learned from the study team's interdisciplinary care processes are shared with recognition of the potential for replication and implementation in other care settings.
Topics: Child Advocacy; Chromosomes, Human, Pair 18; Clinical Decision-Making; Developmental Disabilities; Enteral Nutrition; Female; Fetal Monitoring; Heart Defects, Congenital; Humans; Infant Food; Infant Nutrition Disorders; Infant, Newborn; Intensive Care, Neonatal; Interdisciplinary Communication; Life Expectancy; Male; Muscle Hypotonia; Neoplasms; Palliative Care; Patient Care Team; Prenatal Diagnosis; Professional-Family Relations; Trisomy; Trisomy 13 Syndrome
PubMed: 33381915
DOI: 10.1002/ajmg.a.62051