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Human Cell Sep 2023Trisomy 13 (Patau syndrome) is a kind of congenital chromosomal abnormality disease. Trisomy 13 has high occurrence in fetuses or infants from the old aged pregnant...
Trisomy 13 (Patau syndrome) is a kind of congenital chromosomal abnormality disease. Trisomy 13 has high occurrence in fetuses or infants from the old aged pregnant women. Screening out the fetus with trisomy 13 early and avoiding the infant with trisomy 13 to be born is the main strategy in the care of delivery women with the fetus with trisomy 13. The current screening method is not perfect and has room to strengthen. In this study, we aimed to establish a method to strengthen the current screening methods, which would be cheap, fast and convenient. Technically, we obtained the commercially available genomic DNA extracted from the amniotic fluid puncture of the pregnant woman with the trisomy 13 fetus, 2 genomic DNA extracted from 2 healthy male (one adult and one teenager) and 1 genomic DNA extracted from 1 healthy adult female as the qPCR template DNAs and the commercially available Sybr green qPCR mater mix as the qPCR reaction liquid; we also designed and synthesized 5 pairs of qPCR primers, respectively, corresponding to IL-10 gene on 1# chromosome, STAT1 gene on 2# chromosome, CXCR3 gene on X chromosome, TSPY1 gene on Y chromosome and LINC00458 gene on 13# chromosome. We then performed Sybr green qPCR measurement. Further, we used the qPCR data to perform the mathematical calculation and finally formed a new algorithm. Using this new algorithm, we easily distinguished the trisomy 13 sample out of the normal samples. The method established this study could strengthen and complement the current methods. In conclusion, our study initiated a pilot study to screen the trisomy 13 and prospected some new directions for efforts.
Topics: Adult; Female; Pregnancy; Male; Humans; Middle Aged; Aged; Adolescent; Amniotic Fluid; Prenatal Diagnosis; Trisomy 13 Syndrome; Trisomy; Down Syndrome; Amniocentesis; Pilot Projects; Chromosome Disorders; DNA; Cell Cycle Proteins
PubMed: 37318693
DOI: 10.1007/s13577-023-00930-6 -
Alternative Therapies in Health and... Oct 2023Abnormalities in the meiosis process after sperm-egg union can cause fetal chromosome aneuploidy. The rate of birth defects and the mortality of fetuses with chromosome...
CONTEXT
Abnormalities in the meiosis process after sperm-egg union can cause fetal chromosome aneuploidy. The rate of birth defects and the mortality of fetuses with chromosome aneuploidy is significantly higher than that of fetuses with normal chromosomes. Both ultrasound and quantitative fluorescence polymerase chain reaction (QF-PCR) have limitations when used singly, but their combined use may provide better diagnoses.
OBJECTIVE
The study intended to investigate the value of QF-PCR combined with ultrasound in early pregnancy for prenatal screening for fetal chromosomal aneuploidy, to contribute to the improvement of prenatal examinations, ultimately enhancing the early detection and management of the aneuploidies.
DESIGN
The research team performed a retrospective study.
SETTING
The study took place at the Affiliated Dongguan Hospital at Southern Medical University in Dongguan, China.
PARTICIPANTS
Participants were 1082 pregnant women who underwent an ultrasound examination in early pregnancy, 11 weeks to 13 + 6 weeks, at the hospital between January 2019 and January 2022.
OUTCOME MEASURES
Using the results of participants' ultrasounds and QF-PCR testing, the research team used the gold standard, a chromosomal karyotype analysis, to evaluate the efficacy in diagnosing fetal chromosomal aneuploidies, of ultrasound alone, QF-PCR testing alone, and their combination.
RESULTS
Early-pregnancy ultrasound detected 15 abnormalities, of which seven were an abnormal thickness of the transparent layer of the neck, 22 were abnormal nasal bone, four were a fish-scale appearance of bilateral soles of the feet, and three were other abnormalities, such as an incomplete quadrant of the heart, gastroceles, or dilatation of the pelvis. No cases of missed or failed karyotype cultures occurred. The QF-PCR detected 21 abnormal fetuses, including six with trisomy 21 syndrome, two with trisomy 18 syndrome, one with trisomy 13 syndrome, and 11 with sex-chromosome abnormalities. The sensitivity, specificity, and accuracy of QF-PCR in diagnosing fetal chromosomal aneuploidy were 85.7%, 99.81%, and 99.54%, respectively, and the Kappa value for its consistency with the gold standard was 0.88. The sensitivity, specificity, and accuracy of the ultrasound, combined with QF-PCR in diagnosing fetal chromosomal aneuploidy were 95.23%,99.71%, and 99.63%, respectively, and the Kappa value of combined tests' consistency with the gold standard was 0.91.
CONCLUSION
QF-PCR combined with ultrasound in early pregnancy can effectively improve the accuracy of prenatal diagnosis of fetal chromosome aneuploidy, especially for high-risk pregnant women with a high, positive, predictive value, providing a feasible detection method for clinical practice.
PubMed: 37471660
DOI: No ID Found -
Prenatal Diagnosis Apr 2024This is a written summary of the oral debate presented at the International Society for Prenatal Diagnosis annual conference in Edinburgh in 2023. The topic under debate... (Review)
Review
This is a written summary of the oral debate presented at the International Society for Prenatal Diagnosis annual conference in Edinburgh in 2023. The topic under debate is whether noninvasive prenatal testing (NIPT) using cell-free fetal DNA should replace other screening strategies for the detection of fetal trisomies 13, 18, 21. There is no disagreement that NIPT is far more sensitive and has better positive predictive values for identifying trisomies 13, 18, and 21 than traditional screening approaches using biochemical markers and measurement of nuchal translucency. The major issue lies in the potential adverse consequences associated with abandoning traditional screening methods. The source of disagreement stems primarily from whether you consider the role of ultrasound in the context of screening to be strictly for nuchal translucency measurement or whether it should be combined with a fetal anatomy scan. The debate featured two experts who presented evidence in favor of each argument.
Topics: Pregnancy; Female; Humans; Trisomy; Noninvasive Prenatal Testing; Down Syndrome; Prenatal Diagnosis; Trisomy 13 Syndrome; Nuchal Translucency Measurement
PubMed: 38047733
DOI: 10.1002/pd.6477 -
PloS One 2023The purpose of this study was to determine direct and indirect costs of patients with trisomy (T) 13, 18, and 21 in Thailand. Direct medical costs were obtained from...
The purpose of this study was to determine direct and indirect costs of patients with trisomy (T) 13, 18, and 21 in Thailand. Direct medical costs were obtained from Siriraj Informatics and Data Innovation Center (SiData+), Faculty of Medicine, Siriraj Hospital, and indirect costs were estimated using a human capital approach. About 241 patients with T21 had outpatient care visits and 124 patients received inpatient care. For T13 and T18, five and seven patients were analyzed for outpatient and inpatient cares, respectively. For patients with T13, T18, and T21 receiving outpatient care, total annual mean direct medical costs ranged from 183.2 USD to 655.2 USD. For inpatient care, average yearly direct medical costs varied between 2,507 USD to 14,790 USD. The mean and median increased with age. In outpatient care, costs associated with drugs and medical devices were a major factor for both T13 and T21 patients, whereas laboratory costs were substantial for T18 patients. For inpatient care, costs of drug and medical devices were the greatest for T13 patients, while service fee and operation costs were the highest for T18 and T21 patients, respectively. For outpatient care, adult patients with congenital heart disease (CHD) had significantly higher mean annual direct medical costs than those without CHD. However, all adult and pediatric patients with CHD receiving inpatient care had significantly higher costs. Patients with T13, T18, and T21 had relative lifetime costs of 22,715 USD, 11,924 USD, and 1,022,830 USD, respectively.
Topics: Adult; Humans; Child; Trisomy 13 Syndrome; Chromosome Disorders; Tertiary Care Centers; Thailand; Trisomy 18 Syndrome; Heart Defects, Congenital; Trisomy; Retrospective Studies
PubMed: 37972090
DOI: 10.1371/journal.pone.0291918 -
Zhonghua Yi Xue Yi Chuan Xue Za Zhi =... Aug 2023To assess the value of non-invasive prenatal testing (NIPT) for trisomy 21 (T21), trisomy 18 (T18), trisomy 13 (T13), sex chromosome aneuploidies, chromosomal...
OBJECTIVE
To assess the value of non-invasive prenatal testing (NIPT) for trisomy 21 (T21), trisomy 18 (T18), trisomy 13 (T13), sex chromosome aneuploidies, chromosomal microdeletions and microduplications using cell-free fetal DNA from peripheral blood samples of pregnant women.
METHODS
A total of 15 237 pregnant women who had undergone NIPT testing at the Maternity and Child Health Care Hospital of Zaozhuang from February 2015 to December 2021 were enrolled in this study. For those with a high risk by NIPT, amniotic fluid samples were collected for G-banding chromosomal karyotyping analysis and chromosomal microarray analysis to verify the consistency of NIPT with results of prenatal diagnosis. All of the women were followed up by telephone for pregnancy outcomes.
RESULTS
Among the 15 237 pregnant women, 266 (1.75%) were detected with a high risk for fetal chromosomal abnormality were detected. Among these, 79 (29.7%) were at a high risk for T21, 26 (9.77%) were at a high risk for T18, 9 (3.38%) were at a high risk for T13, 74 (27.82%) were at a high risk for sex chromosome aneuploidies, 12 (4.51%) were at a high risk for other autosomal aneuploidies, and 66 (24.81%) were at a high risk for chromosomal microdeletions or microduplications. 217 women had accepted invasive prenatal diagnosis and respectively 50, 13, 1, 25, 1 and 18 were confirmed with T21, T18, T13, sex chromosome aneuploidies, autosomal aneuploidies and microdeletions/microduplications, and the positive predictive values were 75.76%, 68.42%, 11.11%, 40.32%, 10% and 35.29%, respectively. For 13 042 women (85.59%), the outcome of pregnancy were successfully followed up. During the follow-up, one false negative case of T21 was discovered. No false positive cases for T13 and T18 were found.
CONCLUSION
NIPT has a sound performance for screening T13, T18 and T21, and is also valuable for screening other autosomal aneuploidies, sex chromosome aneuploidies and chromosomal microdeletions/microduplications.
Topics: Child; Female; Pregnancy; Humans; Retrospective Studies; Cell-Free Nucleic Acids; Chromosome Disorders; Prenatal Diagnosis; Down Syndrome; Sex Chromosome Aberrations; Trisomy 18 Syndrome; Trisomy 13 Syndrome; Aneuploidy; DNA; Trisomy
PubMed: 37532491
DOI: 10.3760/cma.j.cn511374-20220815-00545 -
Prenatal Diagnosis Nov 2023To assess whether the fetal fraction (FF) has an impact on the screen-positive rate (SPR) in cell-free DNA (cfDNA) screening for trisomy 21.
OBJECTIVE
To assess whether the fetal fraction (FF) has an impact on the screen-positive rate (SPR) in cell-free DNA (cfDNA) screening for trisomy 21.
METHODS
Retrospective analysis based on samples analyzed using the Harmony Prenatal Test (Roche Inc). Due to the size of the data set, we focused on the SPR, which was stratified according to the maternal age, weight, gestational age, and FF distribution.
RESULTS
The study cohort consisted of 364,881 patients, including 2614 with a high-risk-result. Median maternal and gestational ages were 34.6 years and 12.4 weeks. FF was dependent on maternal age, weight, and gestational age. SPR was 0.72% and it was independent of maternal weight but was dependent on maternal age. There was a positive but weak association between the FF and the SPR until the FF reached 20.0% (OR p = 1.021, p < 0.001, Nagelkerkes r2 = 0.001). This group included 357,800 pregnancies or 98.1% of the study population. In the group of pregnancies with a FF > 20%, the association was stronger (OR 1.099, p < 0.001, Nagelkerkes r2 = 0.042).
CONCLUSION
The SPR in cfDNA screening for trisomy 21 was relatively constant up to a FF of about 20%.
Topics: Pregnancy; Female; Humans; Down Syndrome; Trisomy; Retrospective Studies; Cell-Free Nucleic Acids; Prenatal Diagnosis; Trisomy 13 Syndrome; Trisomy 18 Syndrome
PubMed: 37789581
DOI: 10.1002/pd.6448 -
Pediatric Pulmonology Feb 2024Trisomy 18 and trisomy 13 are the most common autosomal trisomies following trisomy 21, with overall incidence rising. Both diagnoses are characterized by multisystem...
BACKGROUND AND OBJECTIVES
Trisomy 18 and trisomy 13 are the most common autosomal trisomies following trisomy 21, with overall incidence rising. Both diagnoses are characterized by multisystem involvement and were previously thought to be incompatible with life. New data suggest that prolonged survival is possible, and thus many families are opting for more aggressive medical interventions. This study aims to describe airway findings in trisomy 18 and trisomy 13, as these have not been comprehensively studied and can impact medical decision-making. We hypothesize that most children with trisomy 18 and trisomy 13 will have abnormal findings on airway endoscopy.
METHODS
This a 10-year retrospective analysis of children with trisomy 13 or trisomy 18 who underwent endoscopic airway evaluation at a single center between 2011 and 2021. A total of 31 patients were evaluated.
RESULTS
Thirty-one patients were included and underwent flexible bronchoscopy by a pediatric pulmonologist, often in conjunction with rigid bronchoscopy performed by pediatric otolaryngology. Findings were typically complimentary. All patients had at least one clinically significant finding on evaluation, and most patients had both upper and lower airway, as well as static and dynamic airway findings. The most common airway findings in children with trisomy 13 and 18 include tracheomalacia, bronchomalacia, laryngomalacia, hypopharyngeal collapse, glossoptosis, and bronchial compression.
CONCLUSION
These findings can have significant implications for clinical care, and thus knowledge of trends has the potential to improve counseling on expected clinical course, presurgical planning, and informed consent before interventions.
Topics: Humans; Child; Infant; Retrospective Studies; Trisomy 13 Syndrome; Trisomy 18 Syndrome; Tracheobronchomalacia; Bronchomalacia; Bronchoscopy
PubMed: 37937891
DOI: 10.1002/ppul.26750 -
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 -
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 -
Mutation Research. Genetic Toxicology... 2024DNA alterations in gametes, which may occur either spontaneously or as a result of exposure to genotoxicants, can lead to constitutional chromosomal anomalies in the...
DNA alterations in gametes, which may occur either spontaneously or as a result of exposure to genotoxicants, can lead to constitutional chromosomal anomalies in the offspring. Alcohol is an established genotoxicant. The goal of this hypothesis-testing longitudinal cohort study was to evaluate the effect of significant/sustained maternal alcohol exposure on clinically diagnosed constitutional chromosomal anomalies among children diagnosed with fetal alcohol syndrome (FAS). De-identified eligibility and claim healthcare records, prospectively generated from the 1990-2012 Florida Medicaid system within the Independent Healthcare Research Database (IHRD), were analyzed. Children examined were continuously eligible with ≥ 8 outpatient office visits during the 96-month period following birth. Among these children, 377 were diagnosed with FAS and 137,135 were not. The incidence rate of chromosomal anomalies involving segregation (trisomy 13, 18, or 21, n = 625), microdeletions (microdeletion syndromes, n = 39), and point mutations (sickle-cell anemia/cystic fibrosis, n = 2570) were examined using frequency risk ratio (RR) and logistic regression (adjusted odds ratio (aOR) for sex, race, residence, socioeconomic/environmental exposure status, and birth date) models. The incidence rates of chromosomal anomalies involving segregation (RR=5.92, aOR=5.85) and microdeletions (RR=41.6, aOR=34.1) were significantly increased in the FAS cohort as compared to the non-diagnosed cohort, but there was no difference in the incidence rate of point mutations (RR=1.14, aOR=1.29). Maternal toxicant exposure should be considered in the etiology of constitutional chromosomal anomaly in offspring.
Topics: Child; United States; Female; Pregnancy; Humans; Longitudinal Studies; Fetal Alcohol Spectrum Disorders; Cohort Studies; Chromosome Disorders; Chromosome Aberrations
PubMed: 38432776
DOI: 10.1016/j.mrgentox.2024.503737