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The Journal of Pediatrics May 2024To assess rates of cardiac surgery and the clinical and demographic features that influence surgical vs nonsurgical treatment of congenital heart disease (CHD) in...
OBJECTIVE
To assess rates of cardiac surgery and the clinical and demographic features that influence surgical vs nonsurgical treatment of congenital heart disease (CHD) in patients with trisomy 13 (T13) and trisomy 18 (T18) in the United States.
STUDY DESIGN
A retrospective study was performed using the Pediatric Health Information System. All hospital admissions of children (<18 years of age) with T13 and T18 in the United States were identified from 2003 through 2022. International Classifications of Disease (ICD) codes were used to identify presence of CHD, extracardiac comorbidities/malformations, and performance of cardiac surgery.
RESULTS
Seven thousand one hundred thirteen patients were identified. CHD was present in 62% (1625/2610) of patients with T13 and 73% (3288/4503) of patients with T18. The most common CHD morphologies were isolated atrial/ventricular septal defects (T13 40%, T18 42%) and aortic hypoplasia/coarctation (T13 21%, T18 23%). Single-ventricle morphologies comprised 6% (100/1625) of the T13 and 5% (167/3288) of the T18 CHD cohorts. Surgery was performed in 12% of patients with T13 plus CHD and 17% of patients with T18 plus CHD. For all cardiac diagnoses, <50% of patients received surgery. Nonsurgical patients were more likely to be born prematurely (P < .05 for T13 and T18). The number of extracardiac comorbidities was similar between surgical/nonsurgical patients with T13 (median 2 vs 2, P = .215) and greater in surgical vs nonsurgical patients with T18 (median 3 vs 2, P < .001). Hospital mortality was <10% for both surgical cohorts.
CONCLUSIONS
Patients with T13 or T18 and CHD receive surgical palliation, but at a low prevalence (≤17%) nationally. Given operative mortality <10%, opportunity exists perhaps for quality improvement in the performance of cardiac surgery for these vulnerable patient populations.
Topics: Humans; Retrospective Studies; United States; Female; Male; Heart Defects, Congenital; Trisomy 13 Syndrome; Cardiac Surgical Procedures; Trisomy 18 Syndrome; Infant; Child, Preschool; Infant, Newborn; Child; Adolescent; Hospitalization; Chromosomes, Human, Pair 18; Trisomy; Chromosome Disorders
PubMed: 38340889
DOI: 10.1016/j.jpeds.2024.113955 -
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 -
The Journal of Thoracic and... May 2024Recommendations for surgical repair of a congenital heart defect in children with trisomy 13 or trisomy 18 remain controversial, are subject to biases, and are largely...
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.
OBJECTIVES
Recommendations for surgical repair of a congenital heart defect in children with trisomy 13 or trisomy 18 remain controversial, are subject to biases, and are largely unsupported with limited empirical data. This has created significant distrust and uncertainty among parents and could potentially lead to suboptimal care for patients. A working group, representing several clinical specialties involved with the care of these children, developed recommendations to assist in the decision-making process for congenital heart defect care in this population. The goal of these recommendations is to provide families and their health care teams with a framework for clinical decision making based on the literature and expert opinions.
METHODS
This project was performed under the auspices of the AATS Congenital Heart Surgery Evidence-Based Medicine Taskforce. A Patient/Population, Intervention, Comparison/Control, Outcome process was used to generate preliminary statements and recommendations to address various aspects related to cardiac surgery in children with trisomy 13 or trisomy 18. Delphi methodology was then used iteratively to generate consensus among the group using a structured communication process.
RESULTS
Nine recommendations were developed from a set of initial statements that arose from the Patient/Population, Intervention, Comparison/Control, Outcome process methodology following the groups' review of more than 500 articles. These recommendations were adjudicated by this group of experts using a modified Delphi process in a reproducible fashion and make up the current publication. The Class (strength) of recommendations was usually Class IIa (moderate benefit), and the overall level (quality) of evidence was level C-limited data.
CONCLUSIONS
This is the first set of recommendations collated by an expert multidisciplinary group to address specific issues around indications for surgical intervention in children with trisomy 13 or trisomy 18 with congenital heart defect. Based on our analysis of recent data, we recommend that decisions should not be based solely on the presence of trisomy but, instead, should be made on a case-by-case basis, considering both the severity of the baby's heart disease as well as the presence of other anomalies. These recommendations offer a framework to assist parents and clinicians in surgical decision making for children who have trisomy 13 or trisomy 18 with congenital heart defect.
Topics: Infant; Child; Humans; United States; Trisomy 18 Syndrome; Trisomy 13 Syndrome; Thoracic Surgery; Consensus; Heart Defects, Congenital; Cardiac Surgical Procedures
PubMed: 38284966
DOI: 10.1016/j.jtcvs.2023.11.054 -
Archives de Pediatrie : Organe Officiel... Feb 2024Chromosomal abnormalities are the main cause of birth defects, intellectual disability, and miscarriages. They contribute to significant human morbidity and infant...
BACKGROUND
Chromosomal abnormalities are the main cause of birth defects, intellectual disability, and miscarriages. They contribute to significant human morbidity and infant mortality. Here we report for the first time the chromosomal abnormalities encountered in the population of Eastern Morocco. Furthermore, we describe a new case of a de novo partial trisomy 13q combined with a terminal deletion in an 11-day-old girl.
METHODS
From November 2015 to March 2022, 195 patients from the BRO Biobank who were clinically suspected of having chromosomal abnormalities were referred to the cytogenetics laboratory of the Genetics Unit of the Faculty of Medicine and Pharmacy of Oujda for cytogenetic study. Karyotyping analysis was performed on peripheral blood samples using standard R banding techniques. To identify single-nucleotide polymorphism (SNP) and copy number variants (CNVs), Illumina SNP array was used.
RESULTS
Among 195 studied cases, 32 (16.4 %) had abnormal karyotypes, of which 12 cases had numerical aberrations while 20 cases had structural aberrations. The most common numerical aberrations were Turner syndrome and Down syndrome followed by Edward, Patau, and Klinefelter syndromes. For structural aberrations, translocations were the most common, followed by derivative chromosomes, inversions, deletions, and an addition on chromosome 13 identified in an 11-day-old girl. To further characterize this addition, SNP array was carried out and revealed a 58.8-Mb duplication in region 13q14.3q34 associated with a 1-Mb deletion in region 13q34. Follow-up parental chromosomes analysis showed normal karyotypes for the parents, confirming that this partial trisomy 13q was de novo. Comparison of the phenotype associated with this novel duplication on chromosome 13q with those previously reported confirmed the considerable variability in the phenotype of the patients with partial trisomy 13q.
CONCLUSION
This study provided the first report on chromosomal abnormalities in Eastern Morocco and it enriched the phenotype spectrum of partial trisomy 13q and further confirmed the genotype-phenotype correlations. Furthermore, these findings justify the need to set up microarray comparative genomic hybridization techniques in Morocco for better genetic diagnosis.
Topics: Infant; Female; Humans; Trisomy; Comparative Genomic Hybridization; Chromosomes, Human, Pair 13; Polymorphism, Single Nucleotide; Morocco; Chromosome Deletion; Chromosome Aberrations
PubMed: 38262863
DOI: 10.1016/j.arcped.2023.10.002 -
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 -
Zhonghua Yi Xue Yi Chuan Xue Za Zhi =... Jan 2024To analyze the results of prenatal diagnosis and outcome of pregnancy for women with a high risk for fetal aneuploidies.
OBJECTIVE
To analyze the results of prenatal diagnosis and outcome of pregnancy for women with a high risk for fetal aneuploidies.
METHODS
A total of 747 cases of prenatal diagnosis by amniocentesis due to high risks by non-invasive prenatal testing (NIPT) were selected from January 2015 to March 2022 in the Drum Tower Hospital Affiliated to Nanjing University Medical School. The amniotic fluid samples were subjected to chromosomal karyotyping and/or chromosomal microarray analysis. All cases were followed up by searching the birth information or telephone calls, and the results were recorded. 2 test or F test were used for comparing the difference between the groups.
RESULTS
Among the 747 pregnant women with a high risk by NIPT, 387 were true positives, and the overall positive predictive value (PPV) was 51.81%. The PPVs for trisomy 21 (T21), trisomy 18 (T18), trisomy 13 (T13) and sex chromosome aneuploidies (SCA) were 80.24% (199/248), 60% (48/80), 14% (7/50) and 38.97% (106/272), respectively. The PPV for T21 was significantly higher than T18 and T13 (χ = 85.216, P < 0.0001). The PPV for other chromosomal aneuploidies and copy number variations (CNVs) were 11.11% (5/45) and 40.74% (22/52), respectively. The PPV for increased X chromosomes was significantly higher than X chromosome decreases (64.29% vs. 22.22%, χ = 5.530, P < 0.05). The overall PPV for elder women (≥ 35 years old) was significantly higher than younger women (69.35% vs. 42.39%, χ = 49.440, P < 0.0001). For T21 and T18, the PPV of Z ≥ 10 group was significantly higher than that for 3 ≤ Z < 5 group or 5 ≤ Z < 10 group (P < 0.05). Among 52 cases with a high risk for CNVs, the PPV for the ≤ 5 Mb group was significantly higher than the 5 Mb < CNVs < 10 Mb or > 10 Mb groups (60% vs. 30%60% vs. 23.53%, P < 0.05). Among the 387 true positive cases, 322 had opted for induced labor, 53 had delivered with no abnormal growth and development, and 12 were lost during the follow-up.
CONCLUSION
The PPVs for common chromosomal aneuploidies are related to the age and Z value of the pregnant women, which were higher in the elder group and higher Z value group. In addition, the PPV is associated with high risk types. The PPV for T21 was higher than T18 and T13, and that for 45,X was lower than 47,XXX, 47,XYY or 47,XXY syndrome. NIPT therefore has relatively high PPVs for the identification of chromosomal CNVs.
Topics: Female; Pregnancy; Humans; Aged; Adult; DNA Copy Number Variations; Prenatal Diagnosis; Down Syndrome; Aneuploidy; Trisomy 18 Syndrome; Trisomy 13 Syndrome; DNA; Trisomy
PubMed: 38171551
DOI: 10.3760/cma.j.cn511374-20221104-00757 -
Prenatal Diagnosis Apr 2024Non-invasive prenatal testing (NIPT) allows the detection of placental chromosome aberrations. To verify whether the fetus also has the chromosome aberration, diagnostic...
Limited additional value of karyotyping cultured amniotic fluid cell colonies in addition to microarray on uncultured cells for confirmation of abnormal non-invasive prenatal testing results.
OBJECTIVES
Non-invasive prenatal testing (NIPT) allows the detection of placental chromosome aberrations. To verify whether the fetus also has the chromosome aberration, diagnostic follow-up testing is required. The aim of this retrospective study was to assess the added value of analyzing amniotic fluid (AF) cell cultures in addition to uncultured AF cells for the detection of fetal mosaicism.
METHOD
NIPT was performed as part of the Dutch TRIDENT study. Cytogenetic studies in uncultured AF were performed using single nucleotide polymorphism (SNP)-array. Cultured AF cell colonies (in situ method) were investigated with fluorescent in situ hybridization and/or karyotyping. Clinical outcome data were collected in cases with discordant results.
RESULTS
Between April 2014 and December 2021, 368 amniocenteses were performed after a chromosomal aberration was detected with NIPT. Excluding 134 cases of common aneuploidies (confirmed by quantitative fluorescence polymerase chain reaction), 29 cases with investigation of uncultured cells only and 1 case without informed consent, 204 cases were eligible for this study. In 196 (96%) cases, the results in uncultured and cultured cells were concordant normal, abnormal or mosaic. Five cases (2%) showed mosaicism in cultured AF cells, whereas uncultured AF cells were normal. Two (1%) of these, one mosaic trisomy 13 and one mosaic trisomy 16, were considered true fetal mosaics.
CONCLUSION
The added value of investigating AF cell cultures in addition to uncultured cells is limited to two of 204 (1%) cases in which true fetal mosaicsm would otherwise be missed. The clinical relevance of one (trisomy 13) remained unknown and the other case also showed ultrasound anomalies, which determined pregnancy management. This seems to justify limiting prenatal cytogenetic confirmatory testing to SNP arrays on uncultured AF cells, considerably shortening the reporting time.
Topics: Pregnancy; Female; Humans; Prenatal Diagnosis; Amniotic Fluid; In Situ Hybridization, Fluorescence; Trisomy 13 Syndrome; Retrospective Studies; Placenta; Amniocentesis; Trisomy; Karyotyping; Mosaicism; Cells, Cultured
PubMed: 38141050
DOI: 10.1002/pd.6499