"Edwards Syndrome"

BACKGROUND: Non-invasive prenatal testing (NIPT), sometimes called noninvasive prenatal screening (NIPS), is a non-invasive prenatal genetic test using cell-free DNA in maternal blood. This method is used to diagnose fetal aneuploidy disorders such as Down syndrome (trisomy 21), Edwards syndrome (trisomy 18) and Patau syndrome (trisomy 13), which causes disability disorders or significant postpartum defects. The aim of this study was to investigate the relationship between high and low fetal fraction (FF) and prognosis of maternal pregnancy...

OBJECTIVES: The main objective of this study was to evaluate parents' current demands following the announcement of trisomy 18 and maternal risks. MATERIAL AND METHODS: A single-centre retrospective study was performed in the Paris Saclay Foetal Medicine Department from 2018 to 2021. All patients followed up in the department who had cytogenetic confirmation of trisomy 18 were included. RESULTS: 89 patients were recruited. The most common malformations at ultrasound examination were cardiac or brain abnormalities, distal arthrogryposis as well as severe intrauterine growth retardation...

OBJECTIVE: To perform a statewide characteristics and outcomes analysis of the Trisomy 18 (T18) population and explore the potential impact of associated congenital heart disease (CHD) and congenital heart surgery. STUDY DESIGN: Retrospective review of the Texas Hospital Inpatient Discharge Public Use Data File between 2009 and 2019, analysing discharges of patients with T18 identified using ICD-9/10 codes. Discharges were linked to analyse patients. Demographic characteristics and available outcomes were evaluated...

The cell-free fetal DNA (cffDNA) analysis for screening fetal genetic anomalies has increased dramatically since its commercialization in 2011 worldwide. In the early weeks of pregnancy, it offers a hassle-free, non-invasive procedure of antenatal screening. It guides and protects mothers from undergoing unwanted risk-laden invasive prenatal testing. cffDNA testing is accurate at detecting the abnormal fetus chromosome among a large pool population. Patau syndrome, Edward syndrome, and Down syndrome are currently being accurately screened by this method...

OBJECTIVE: Measure condition-specific detection rates for 14 physical conditions screened for by the NHS fetal anomaly screening programme (FASP) fetal anomaly (FA) ultrasound scan. DESIGN: Retrospective audit of 12,694 diagnoses across a three-year national cohort. SETTING: All English NHS and crown dependency hospital trusts providing maternity services. POPULATION: Pregnancies booked for maternity services with an expected date of delivery between 1 April 2017 to 31 March 2020 and at least one diagnosis of a condition screened for by FASP...

Chromosomal abnormality is one of the causes of congenital disorders among newborns. Despite aneuploidy being the major cause of first trimester miscarriages, very few aneuploidies such as trisomies of chromosomes 13, 18 and 21 survive to birth. The results of 4,064 patients referred for cytogenetic analysis at Human Genome Centre, Universiti Sains Malaysia, Kelantan, Malaysia between 2008 and 2019 were reviewed. We retrospectively investigated the karyotype patterns, clinical features and parental ages of the three common live-born autosomal trisomies such as trisomy 13, trisomy 18 and trisomy 21...

The aim of this study was to determine the correlation between maternal hepatitis B virus (HBV) carrier status and pregnancy-associated serum screening indicators, as well as their implications on the prenatal screening results of Down's syndrome (DS). This retrospective cohort study included two groups, namely the healthy gravidas group ( n  = 19804) and the maternal HBV carrier group ( n  = 792). Serum pregnancy-associated plasma protein A (PAPP-A), alpha-fetoprotein (AFP), and free beta subunit of human chorionic gonadotropin (free β-hCG) levels, as well as the foetal nuchal translucency (NT) thickness, were measured...

Trisomy 18 (Edward syndrome) was first described by Edwards et al. in 1960. The condition is the second most common autosomal trisomy syndrome in males. The prevalence in infants is estimated as 1/6000-1/8000. Those affected have a high mortality rate - only 4% may survive their first year.

Trisomy 18 is an autosomal chromosomal disorder characterized by the presence of an extra 18 chromosome. In the last decades, and as novel therapeutic options emerged, a paradigm shift on the treatments available to these children occurred, establishing the need to deepen the knowledge regarding the management/treatment of children diagnosed with trisomy 18. This retrospective cohort study sought to characterize the clinical path and survival of the children with the diagnosis of trisomy 18 followed in a tertiary pediatric hospital between 1995 and 2020...

Trisomy 18, commonly known as Edwards syndrome, is the second most common autosomal trisomy among live born neonates. Multiple tissues including cardiac, abdominal, and nervous systems are affected by an extra chromosome 18. To delineate the complexity of anomalies of trisomy 18, we analyzed cultured amniotic fluid cells from two euploid and three trisomy 18 samples using single-cell transcriptomics. We identified 6 cell groups, which function in development of major tissues such as kidney, vasculature and smooth muscle, and display significant alterations in gene expression as detected by single-cell RNA-sequencing...

A neonate born at our centre was diagnosed as Fryns Syndrome ie congenital diaphragmatic hernia with facial dysmorphism and distal limb anomalies, which is a rare disorder with only a few hundred cases reported till date.With high clinical index of suspicion and further evaluation, the diagnosis was confirmed. The baby was initially stabilized and later underwent repair of the diaphragmatic hernia. Despite best measures, the baby could not be salvaged. When severe, this can be lethal and diagnosis can only be made after autopsy...

Non-invasive prenatal testing (NIPT) is a powerful screening method for fetal aneuploidy detection, relying on laboratory and computational analysis of cell-free DNA. Although several published computational NIPT analysis tools are available, no prior comprehensive, head-to-head accuracy comparison of the various tools has been published. Here, we compared the outcome accuracies obtained for clinically validated samples with five commonly used computational NIPT aneuploidy analysis tools (WisecondorX, NIPTeR, NIPTmer, RAPIDR, and GIPseq) across various sequencing depths (coverage) and fetal DNA fractions...

Patients with chromosomal abnormalities are at risk for numerous neurosurgical pathologies, given the broad impact and multisystem involvement of these disorders. Down syndrome (trisomy 21), Edwards syndrome (trisomy 18), Patau syndrome (trisomy 13), Klinefelter syndrome (47,XXY), and velocardiofacial or DiGeorge syndrome (22q11.2 deletion) are particularly associated with neurosurgical concerns. Given the heterogeneity of concerns and presentations, these patients benefit from multidisciplinary care provided by teams familiar with their specific syndrome...

Trisomy 13 and 18 are common chromosomal abnormalities that affect multiple organ systems. There is a paucity of published data, however, on the hepatic complications seen in these patient populations. One of the most common pathologic hepatobiliary issues seen in the newborn period is direct hyperbilirubinemia (DH). Thus, this study sought to estimate the incidence and evaluate possible etiologies of DH in neonates with trisomy 13 or 18. This retrospective cohort study included all infants admitted to our two neonatal intensive care units between 2012 and 2020 with the diagnosis of trisomy 13 or 18...

The aim of present study was to assess the karyotypes of amniotic fluid cells and find the frequency of chromosomal abnormalities and their significance in clinical setting. A total of 15,401 pregnant women were assessed from March 2016 to May 2019, and 14,968 amniotic fluid samples were successfully cultured. These fetuses were grouped according to different indications including advanced maternal age, abnormal nuchal translucency (NT) values, positive first/second trimester screening results, high risk NIPT results, very low PAPP-A and free β-hCG multiples of the normal median (MoM) results, abnormal ultrasound findings or previous history of chromosomal abnormalities...

OBJECTIVE: To assess the efficacy of cell-free (cf)DNA screening for aneuploidy using the automated system based on rolling circle replication. METHODS: A prospective study among women referred for invasive prenatal diagnosis between July 2018 and December 2019. The plasma fraction was extracted within 5 days from blood collection, stored at -20°C and cfDNA measured between January and December 2019. RESULTS: A total of 805 women were recruited; 778 with singleton pregnancies and 27 twins...

BACKGROUND: Chromosomal diseases with chromosomal abnormalities are one of the most common genetic diseases in humans, including abnormal numbers and structural abnormalities. Patau syndrome (also known as trisomy 13), Edward syndrome (also called trisomy 18), and Down syndrome (also known as trisomy 21) are all clinically fatal diseases caused by abnormal numbers of autosomes. However, there is no reliable and effective cure for chromosomal diseases, mainly relying on fast and accurate prenatal diagnosis technology to reduce the rate of birth defects...

BACKGROUND: Trisomy 18 syndrome (Edwards syndrome, ES) is a type of aneuploidy caused by the presence of an extra chromosome 18. Aneuploidy is the leading cause of early pregnancy loss, intellectual disability, and multiple congenital anomalies. The research of trisomy 18 is progressing slowly, and the molecular characteristics of the disease mechanism and phenotype are still largely unclear. RESULTS: In this study, we used the commercial Chromium platform (10× Genomics) to perform sc-ATAC-seq to measure chromatin accessibility in 11,611 single umbilical cord blood cells derived from one trisomy 18 syndrome patient and one healthy donor...

Edwards syndrome, or trisomy 18, is an uncommonly encountered aneuploidy in which multiple organs are affected and have compromised function. Only 13% of neonates born with Edwards syndrome survive beyond their first year of life. In this paper, we report the case of a 16-year-old girl with non-mosaic (with meiotic non-disjunction) Edwards syndrome who survived long beyond the expected life span of less than two years. She was diagnosed by karyotyping at the age of one month with complete trisomy 18. She had global developmental delay, a diaphragmatic hernia, recurrent chest infections, juvenile idiopathic scoliosis of the thoracolumbar region, neurogenic bladder, fecaloma, bilateral exposure keratopathy, and failure to thrive...

Identified by the eponym "Edwards' Syndrome," trisomy 18 (T18) represents the second most common autosomal trisomy after T21. The pathophysiology underlying the extra chromosome 18 is a nondisjunction error, mainly linked with the advanced maternal age. More frequent in female fetuses, the syndrome portends high mortality, reaching a rate of 80% of miscarriages or stillbirths. The three-step evaluation includes first trimester screening for fetal aneuploidy using a combination of maternal age, fetal nuchal translucency thickness, fetal heart rate and maternal serum free ß-hCG and PAPP-A; followed by the research for fragments of fetal DNA in maternal blood; and, finally, invasive techniques leave to the established diagnosis...