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Cureus May 2024Trisomy 13, also known as Patau syndrome, is a widely congenital anomaly syndrome characterized by microphthalmia, cleft lip, and palate, microcephaly with a sloping...
Trisomy 13, also known as Patau syndrome, is a widely congenital anomaly syndrome characterized by microphthalmia, cleft lip, and palate, microcephaly with a sloping forehead, congenital heart disease, and polydactyly of the limbs. Patau syndrome is identified either prenatally or postnatally. Its survival rate is low, and most of the patients die even before their first year of life. The risk of trisomy 13 is higher in women of advanced maternal age. Brain and cardiovascular abnormalities are typically the primary factors contributing to the syndrome's poor prognosis. We report a case of a male newborn born at full term from a first-degree consanguineous marriage. Upon initial inspection, the patient had classic dysmorphic features, including low-set ears, a cleft lip and palate, a short neck, bilateral anophthalmia, and polydactyly of the limbs. After chromosomal analysis, the diagnosis was made, and a trisomy 13 was discovered.
PubMed: 38872687
DOI: 10.7759/cureus.60264 -
Autopsy & Case Reports 2024Trisomy 13, known as Patau syndrome, is a common aneuploidy with a well-known clinical phenotype. This case report describes a trisomy 13 patient with unusual autopsy...
Trisomy 13, known as Patau syndrome, is a common aneuploidy with a well-known clinical phenotype. This case report describes a trisomy 13 patient with unusual autopsy findings, including features resembling the Beckwith-Wiedemann Spectrum. Due to abnormalities of gestational ultrasounds, a prenatal karyotype of amniotic fluid cells was performed, which resulted in 47, XY+13. Autopsy microscopy studies identified leptomeningeal glioneuronal heterotopia, which was not described as belonging to Patau syndrome. Other atypical findings were diffuse hyperplasia of pancreatic islets of Langerhans and adrenals enlargement with marked adrenocortical cytomegaly, characteristically seen in the Beckwith-Wiedemann Spectrum. Molecular genetic tests were not performed for the Beckwith-Wiedemann Spectrum. Still, due to the rarity of both disorders, this report may support the evidence that trisomy 13 can affect tissue organization and lead to unusual histopathologic features resembling classic overgrowth disorders.
PubMed: 38770437
DOI: 10.4322/acr.2024.486 -
Taiwanese Journal of Obstetrics &... Mar 2024
Topics: Pregnancy; Female; Humans; Trisomy; Pregnant Women; Chromosome Disorders; Prenatal Diagnosis; Trisomy 18 Syndrome; Trisomy 13 Syndrome; Aneuploidy
PubMed: 38485331
DOI: 10.1016/j.tjog.2024.01.030 -
BMC Medical Ethics Mar 2024The value of a short life characterized by disability has been hotly debated in the literature on fetal and neonatal outcomes. (Review)
Review
INTRODUCTION
The value of a short life characterized by disability has been hotly debated in the literature on fetal and neonatal outcomes.
METHODS
We conducted a scoping review to summarize the available empirical literature on the experiences of families in the context of trisomy 13 and 18 (T13/18) with subsequent thematic analysis of the 17 included articles.
FINDINGS
Themes constructed include (1) Pride as Resistance, (2) Negotiating Normalcy and (3) The Significance of Time.
INTERPRETATION
Our thematic analysis was guided by the moral experience framework conceived by Hunt and Carnevale (2011) in association with the VOICE (Views On Interdisciplinary Childhood Ethics) collaborative research group.
RELEVANCE
This article will be of interest and value to healthcare professionals and bioethicists who support families navigating the medically and ethically complex landscape of T13/18.
Topics: Infant, Newborn; Pregnancy; Female; Humans; Child; Trisomy 13 Syndrome; Morals; Ethicists; Prenatal Care; Health Personnel
PubMed: 38431625
DOI: 10.1186/s12910-023-00994-x -
Nature Communications Feb 2024Aneuploidies, and in particular, trisomies represent the most common genetic aberrations observed in human genetics today. To explore the presence of trisomies in...
Aneuploidies, and in particular, trisomies represent the most common genetic aberrations observed in human genetics today. To explore the presence of trisomies in historic and prehistoric populations we screen nearly 10,000 ancient human individuals for the presence of three copies of any of the target autosomes. We find clear genetic evidence for six cases of trisomy 21 (Down syndrome) and one case of trisomy 18 (Edwards syndrome), and all cases are present in infant or perinatal burials. We perform comparative osteological examinations of the skeletal remains and find overlapping skeletal markers, many of which are consistent with these syndromes. Interestingly, three cases of trisomy 21, and the case of trisomy 18 were detected in two contemporaneous sites in early Iron Age Spain (800-400 BCE), potentially suggesting a higher frequency of burials of trisomy carriers in those societies. Notably, the care with which the burials were conducted, and the items found with these individuals indicate that ancient societies likely acknowledged these individuals with trisomy 18 and 21 as members of their communities, from the perspective of burial practice.
Topics: Pregnancy; Female; Humans; Down Syndrome; Trisomy; Trisomy 18 Syndrome; Chromosome Disorders; DNA, Ancient; Trisomy 13 Syndrome
PubMed: 38378781
DOI: 10.1038/s41467-024-45438-1 -
Cureus Jan 2024Patau syndrome (trisomy 13) is a chromosomal abnormality with multiple malformations due to an additional copy of chromosome 13. This genetic condition has a systemic...
Patau syndrome (trisomy 13) is a chromosomal abnormality with multiple malformations due to an additional copy of chromosome 13. This genetic condition has a systemic impact on the development of the human body, which can result in, but is not limited to, microphthalmia, microcephaly, low-set ears, cleft palate, cardiac abnormalities, and abdominal wall defects. It is associated with severe physical and intellectual disabilities and a limited lifespan. Here, we present a 29-year-old female with a high suspicion of the mosaic form of Patau syndrome. She decided to opt for an elective robotic-assisted vaginal hysterectomy (RAVH) due to worsening menorrhagia and recurrent miscarriages. In addition, the importance of medical interventions from surgery to anesthesia is discussed, with their role in improving the quality of life of the patient.
PubMed: 38298300
DOI: 10.7759/cureus.51471 -
BMJ Paediatrics Open Jan 2024Cleft lip and/or palate (CL/P) is one of the most common congenital anomalies worldwide. Although CL/P management may require a series of interventions, mortality...
BACKGROUND
Cleft lip and/or palate (CL/P) is one of the most common congenital anomalies worldwide. Although CL/P management may require a series of interventions, mortality resulting from CL/P alone is rare. This study aims to examine recent trends of CL/P mortality rates in the USA.
METHODS
A retrospective population-based study was conducted using official US birth and death certificate data from the Centers for Disease Control and Prevention from 2000 to 2019. Annual mortality rates per 1000 births with CL/P were calculated across sex and racial groups. Multivariable logistic regression models estimated the effects of sex and race on the risk of mortality with CL/P, and linear regression models were used to examine temporal changes in mortality rate across sex and race.
RESULTS
From 2000 to 2019, 1119 deaths occurred in patients with documented CL/P, for an overall incidence of 20.3 deaths per 1000 births with CL/P (95% CI 18.9 to 22.8). Of these, Patau syndrome was the listed cause of death in 167 cases (14.9%). Black individuals (OR 1.93, 95% CI 1.85 to 2.01), Hispanic (1.54, 1.49 to 1.58) and American Indian individuals (1.28, 1.20 to 1.35) were at a greater risk of CL/P mortality compared with white individuals. Additionally, females were also at a greater risk (1.35, 1.21 to 1.49). A significant upward trend in CL/P mortality was observed in Hispanic (r=0.70, p<0.01) and American Indian individuals (r=0.81, p<0.01) from 2000 to 2019.
CONCLUSIONS
Cleft birth and mortality surveillance is essential in healthcare and prevention planning. Future studies are required to understand the differences in CL/P mortality rates across various sociodemographic groups.
Topics: Female; Humans; United States; Cleft Lip; Cleft Palate; Retrospective Studies; White
PubMed: 38242631
DOI: 10.1136/bmjpo-2023-002305 -
Taiwanese Journal of Obstetrics &... Jan 2024
Topics: Pregnancy; Female; Humans; Amniocentesis; Mosaicism; Trisomy 13 Syndrome; Live Birth; Trisomy; Comparative Genomic Hybridization
PubMed: 38216251
DOI: 10.1016/j.tjog.2023.10.014 -
Taiwanese Journal of Obstetrics &... Jan 2024
Rapid diagnosis of maternal origin of fetal trisomy 13 by quantitative fluorescent polymerase chain reaction in a pregnancy associated with young maternal age and omphalocele on prenatal ultrasound.
Topics: Pregnancy; Female; Humans; Maternal Age; Trisomy 13 Syndrome; Hernia, Umbilical; Prenatal Diagnosis; Trisomy; Ultrasonography, Prenatal; Polymerase Chain Reaction; Amniocentesis
PubMed: 38216245
DOI: 10.1016/j.tjog.2023.10.008 -
Taiwanese Journal of Obstetrics &... Jan 2024
Topics: Pregnancy; Female; Humans; Holoprosencephaly; Pregnancy Trimester, First; Trisomy 13 Syndrome; Polydactyly; Trisomy; Ultrasonography, Prenatal; Fingers; Toes
PubMed: 38216244
DOI: 10.1016/j.tjog.2023.10.007