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Ultrasound in Obstetrics & Gynecology :... Aug 2017To examine the sphenofrontal distance (SFD) in a large series of aneuploid fetuses in the second and third trimesters and compare findings with those of a euploid...
OBJECTIVE
To examine the sphenofrontal distance (SFD) in a large series of aneuploid fetuses in the second and third trimesters and compare findings with those of a euploid population.
METHODS
The database at our unit was searched to identify pregnancies with a diagnosis of trisomy 21, 18 or 13, triploidy or Turner syndrome after 15 weeks' gestation. Stored ultrasound images obtained between 19 and 22 weeks were reviewed. For the normal population, two euploid fetuses matched for gestational age were selected randomly for each aneuploid case. The SFD was measured from the anterior edge of the sphenoid bone to the lowest posterior edge of the frontal bone using on-screen calipers. The SFD measurement was parallel to the long axis of the maxilla. If the sphenoid bone did not extend superiorly enough for direct measurement of the SFD, a tangential line was drawn at the anterior wall of the sphenoid bone and extended cranially. In these cases, the distance between the extended line and the frontal bone was measured. One operator measured the SFD twice and was blinded to the results and karyotype.
RESULTS
The study population consisted of 591 pregnancies: 394 euploid fetuses, 122 fetuses with trisomy 21, 45 with trisomy 18, 16 with trisomy 13, eight with Turner syndrome and six with triploidy. For both euploid and aneuploid groups, mean gestational age at examination was 22.8 (range: euploid, 15.0-40.7; aneuploid, 15.0-40.3) weeks. For euploid fetuses, mean SFD was 1.27 cm and measurements ranged from 0.53 cm to 2.56 cm. SFD was significantly dependent on gestational age (SFD = 0.138 + 0.005 × gestational age, P < 0.001, r = 0.802). Mean SFD was significantly smaller in each aneuploid group compared with the euploid population (trisomies 21, 18 and 13: all P < 0.001; triploidy: P = 0.026; Turner syndrome: P = 0.047). For 32 (26.2%), nine (20.0%) and six (37.5%) fetuses with trisomy 21, 18 and 13, respectively, SFD was < 5 percentile. Only one (12.5%) fetus with Turner syndrome and none with triploidy had SFD < 5 percentile.
CONCLUSION
In aneuploid fetuses, the SFD is smaller than in their euploid counterparts. However, for a false-positive rate of 5%, the detection rate of trisomy 21 is only 26%. Therefore, using the method we have proposed, it is unlikely that this marker will play a major role in second- and third-trimester screening for aneuploidy. Copyright © 2016 ISUOG. Published by John Wiley & Sons Ltd.
Topics: Adolescent; Adult; Chromosome Disorders; Down Syndrome; Female; Frontal Bone; Gestational Age; Humans; Imaging, Three-Dimensional; Middle Aged; Predictive Value of Tests; Pregnancy; Pregnancy Trimester, Second; Pregnancy Trimester, Third; Retrospective Studies; Sphenoid Bone; Trisomy 13 Syndrome; Trisomy 18 Syndrome; Turner Syndrome; Ultrasonography, Prenatal; Young Adult
PubMed: 27550089
DOI: 10.1002/uog.17284 -
BMJ Case Reports Dec 2012The authors report of an 8-year-old girl with non-mosaic Patau syndrome. The median life expectancy of Patau syndrome is 7-10 days, and 90% die in the first year of...
The authors report of an 8-year-old girl with non-mosaic Patau syndrome. The median life expectancy of Patau syndrome is 7-10 days, and 90% die in the first year of life. Survival is often attributed to mosaicism and the severity of associated malformations. We delineate the developing phenotype and review the literature discussing potential contributory factors to longevity.
Topics: Child; Chromosome Disorders; Chromosomes, Human, Pair 13; Female; Humans; Longevity; Mosaicism; Phenotype; Trisomy; Trisomy 13 Syndrome
PubMed: 23220825
DOI: 10.1136/bcr-06-2011-4381 -
Ethiopian Journal of Health Sciences May 2022Bacterial Sepsis is a serious medical problem affecting children with Congenital Heart Disease (CHD). The pattern and factors predicting outcome of bacterial sepsis have...
BACKGROUND
Bacterial Sepsis is a serious medical problem affecting children with Congenital Heart Disease (CHD). The pattern and factors predicting outcome of bacterial sepsis have not been studied in Africa. The study aimed to describe the pattern and outcome of bacterial sepsis among children with CHD in Tikur Anbessa Specialized Hospital (TASH).
METHODS
A cross-sectional study was carried out among children with CHD and sepsis at TASH between May 2017 and July 2020. Structured questionnaires were used for data collection. Statistical significance was set at P value < 0.05, and multivariable logistic regression was used to determine predictors.
RESULTS
This study included 384 CHD children with sepsis. Proportion of culture proven bacterial sepsis was 17.1 % (66) (95% CI: 13.6-21.3). Coagulase negative staphylococcus aureus 7% (27), Staphylococcus aureus 4.4% (17) and Actinobacteria 1.8% (7) were the common isolated bacteriological agents. Death was documented in 25% (96) of study subjects. Down syndrome subjects were 2.4 times [aOR=2.416 (95%CI: 1.367-4.264)] more likely to die from sepsis. Those with associated comorbidities (Apert syndrome, Cerebral palsy, Chiari 2 malformation, Patau syndrome, Noonan syndrome, Congenital Rubella, Portal vein thrombosis, HIV, Scoliosis and VACTERL association) were 4.4 times more likely to die from sepsis [aOR=4.418 (95%CI: 1.617-12.072)].
CONCLUSION
Bacterial sepsis is a common problem among children with CHD. Gram positive bacteria were common causes. Down syndrome and other co morbidities predicted bacterial sepsis mortality. Blood culture and sensitivity tests are recommended to halt the high mortality seen in Down syndrome or those with co morbidities.
Topics: Child; Cross-Sectional Studies; Down Syndrome; Ethiopia; Heart Defects, Congenital; Hospitals; Humans; Sepsis
PubMed: 35813671
DOI: 10.4314/ejhs.v32i3.7 -
Ultrasound in Obstetrics & Gynecology :... Mar 2015To review clinical validation or implementation studies of maternal blood cell-free (cf) DNA analysis and define the performance of screening for fetal trisomies 21, 18... (Meta-Analysis)
Meta-Analysis Review
OBJECTIVE
To review clinical validation or implementation studies of maternal blood cell-free (cf) DNA analysis and define the performance of screening for fetal trisomies 21, 18 and 13 and sex chromosome aneuploidies.
METHODS
Searches of PubMed, EMBASE and The Cochrane Library were performed to identify all peer-reviewed articles on cfDNA testing in screening for aneuploidies between January 2011, when the first such study was published, and 4 January 2015.
RESULTS
In total, 37 relevant studies were identified and these were used for the meta-analysis on the performance of cfDNA testing in screening for aneuploidies. These studies reported cfDNA results in relation to fetal karyotype from invasive testing or clinical outcome. Weighted pooled detection rates (DR) and false-positive rates (FPR) in singleton pregnancies were 99.2% (95% CI, 98.5-99.6%) and 0.09% (95% CI, 0.05-0.14%), respectively, for trisomy 21, 96.3% (95% CI, 94.3-97.9%) and 0.13% (95% CI, 0.07-0.20) for trisomy 18, 91.0% (95% CI, 85.0-95.6%) and 0.13% (95% CI, 0.05-0.26%) for trisomy 13, 90.3% (95% CI, 85.7-94.2%) and 0.23% (95% CI, 0.14-0.34%) for monosomy X and 93.0% (95% CI, 85.8-97.8%) and 0.14% (95% CI, 0.06-0.24%) for sex chromosome aneuploidies other than monosomy X. For twin pregnancies, the DR for trisomy 21 was 93.7% (95% CI, 83.6-99.2%) and the FPR was 0.23% (95% CI, 0.00-0.92%).
CONCLUSION
Screening for trisomy 21 by analysis of cfDNA in maternal blood is superior to that of all other traditional methods of screening, with higher DR and lower FPR. The performance of screening for trisomies 18 and 13 and sex chromosome aneuploidies is considerably worse than that for trisomy 21.
Topics: Cell-Free System; Chromosome Disorders; Chromosomes, Human, Pair 13; Chromosomes, Human, Pair 18; Chromosomes, Human, X; Chromosomes, Human, Y; Down Syndrome; Female; Humans; Karyotyping; Maternal Serum Screening Tests; Predictive Value of Tests; Pregnancy; Prenatal Diagnosis; Sequence Analysis, DNA; Sex Chromosome Aberrations; Trisomy; Trisomy 13 Syndrome; Trisomy 18 Syndrome
PubMed: 25639627
DOI: 10.1002/uog.14791 -
Developmental Dynamics : An Official... Nov 2015We introduce a new subfield of the recently created field of Evolutionary-Developmental-Anthropology (Evo-Devo-Anth):... (Review)
Review
Evolutionary developmental pathology and anthropology: A new field linking development, comparative anatomy, human evolution, morphological variations and defects, and medicine.
We introduce a new subfield of the recently created field of Evolutionary-Developmental-Anthropology (Evo-Devo-Anth): Evolutionary-Developmental-Pathology-and-Anthropology (Evo-Devo-P'Anth). This subfield combines experimental and developmental studies of nonhuman model organisms, biological anthropology, chordate comparative anatomy and evolution, and the study of normal and pathological human development. Instead of focusing on other organisms to try to better understand human development, evolution, anatomy, and pathology, it places humans as the central case study, i.e., as truly model organism themselves. We summarize the results of our recent Evo-Devo-P'Anth studies and discuss long-standing questions in each of the broader biological fields combined in this subfield, paying special attention to the links between: (1) Human anomalies and variations, nonpentadactyly, homeotic transformations, and "nearest neighbor" vs. "find and seek" muscle-skeleton associations in limb+facial muscles vs. other head muscles; (2) Developmental constraints, the notion of "phylotypic stage," internalism vs. externalism, and the "logic of monsters" vs. "lack of homeostasis" views about human birth defects; (3) Human evolution, reversions, atavisms, paedomorphosis, and peromorphosis; (4) Scala naturae, Haeckelian recapitulation, von Baer's laws, and parallelism between phylogeny and development, here formally defined as "Phylo-Devo parallelism"; and (5) Patau, Edwards, and Down syndrome (trisomies 13, 18, 21), atavisms, apoptosis, heart malformations, and medical implications.
Topics: Anatomy; Anatomy, Comparative; Animals; Anthropology; Biological Evolution; Chromosomes, Human, Pair 18; Congenital Abnormalities; Developmental Biology; Down Syndrome; Foot Deformities, Congenital; Hand Deformities, Congenital; Heart Defects, Congenital; Homeostasis; Humans; Karyotyping; Pathology; Phylogeny; Trisomy; Trisomy 18 Syndrome
PubMed: 26293597
DOI: 10.1002/dvdy.24336 -
International Journal of Fertility &... Feb 2023Non-invasive prenatal testing (NIPT), sometimes called noninvasive prenatal screening (NIPS), is a non-invasive prenatal genetic test using cell-free DNA in maternal...
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.
MATERIALS AND METHODS
In this prospective study, after obtaining informed consent, 10 ml of blood was collected from 450 mothers with singleton pregnancies with gestational age above 11 weeks (11-16) at the request of NIPT for cell-free DNA BCT test. After obtaining the test results, maternal and embryonic results were evaluated based on the amount of non-cellular DNA FF. Data analysis was performed by using SPSS software version 21 and independent t test, chi-square statistical tests.
RESULTS
Based on test results, 20.5% of women were nulli par. The mean FF index in the studied women was 8.3% with a standard deviation of 4.6. The minimum and maximum values were 0 and 27, respectively. The frequency of normal, low and high FFs was 73.2, 17.3 and 9.5%, respectively.
CONCLUSION
High FF has fewer risks to the mother and fetus than low FF. The use of FF level (high or low) can help us determining the prognosis of pregnancy and using it to better manage the pregnancy.
PubMed: 36906828
DOI: 10.22074/ijfs.2022.535676.1169 -
Acta Obstetricia Et Gynecologica... Jan 2017The aim of this study was to review the performance of non-invasive prenatal testing (NIPT) for detection of trisomy 21, 18 and 13 (T21, T18 and T13) in a general... (Meta-Analysis)
Meta-Analysis Review
Analysis of cell-free fetal DNA in maternal blood for detection of trisomy 21, 18 and 13 in a general pregnant population and in a high risk population - a systematic review and meta-analysis.
INTRODUCTION
The aim of this study was to review the performance of non-invasive prenatal testing (NIPT) for detection of trisomy 21, 18 and 13 (T21, T18 and T13) in a general pregnant population as well as to update the data on high-risk pregnancies.
MATERIAL AND METHODS
Systematic review and meta-analysis. PubMed, Embase and the Cochrane Library were searched. Methodological quality was rated using QUADAS and scientific evidence using GRADE. Summary measures of diagnostic accuracy were calculated using a bivariate random-effects model.
RESULTS
In a general pregnant population, there is moderate evidence that the pooled sensitivity is 0.993 (95% CI 0.955-0.999) and specificity was 0.999 (95% CI 0.998-0.999) for the analysis of T21. Pooled sensitivity and specificity for T13 and T18 was not calculated in this population due to the low number of studies. In a high-risk pregnant population, there is moderate evidence that the pooled sensitivities for T21 and T18 are 0.998 (95% CI 0.981-0.999) and 0.977 (95% CI 0.958-0.987) respectively, and low evidence that the pooled sensitivity for T13 is 0.975 (95% CI 0.819-0.997). The pooled specificity for all three trisomies is 0.999 (95% CI 0.998-0.999).
CONCLUSIONS
This is the first meta-analysis using GRADE that shows that NIPT performs well as a screen for trisomy 21 in a general pregnant population. Although the false positive rate is low compared with first trimester combined screening, women should still be advised to confirm a positive result by invasive testing if termination of pregnancy is under consideration.
Topics: Cell-Free System; Chromosome Disorders; Chromosomes, Human, Pair 13; Chromosomes, Human, Pair 18; DNA; Down Syndrome; Female; Genetic Testing; Humans; Pregnancy; Pregnancy, High-Risk; Prenatal Diagnosis; Sensitivity and Specificity; Trisomy; Trisomy 13 Syndrome; Trisomy 18 Syndrome
PubMed: 27779757
DOI: 10.1111/aogs.13047 -
NeoReviews Jan 2023Trisomy 13 is the third most common autosomal aneuploidy disorder and is associated with a number of congenital malformations. Survival of infants with trisomy 13 has...
Trisomy 13 is the third most common autosomal aneuploidy disorder and is associated with a number of congenital malformations. Survival of infants with trisomy 13 has improved over time as life-prolonging technological interventions are more commonly offered. In this article, we describe the course of a child with trisomy 13 who has been followed at our hospital since infancy and explore the changing landscape of care for children with trisomy 13.
Topics: Infant, Newborn; Humans; Trisomy 13 Syndrome; Intensive Care Units, Neonatal
PubMed: 36587011
DOI: 10.1542/neo.24-1-e51 -
Ultrasound in Obstetrics & Gynecology :... Jul 2013Non-invasive prenatal testing (NIPT) for aneuploidy using cell-free DNA in maternal plasma is revolutionizing prenatal screening and diagnosis. We review NIPT in the... (Review)
Review
Non-invasive prenatal testing (NIPT) for aneuploidy using cell-free DNA in maternal plasma is revolutionizing prenatal screening and diagnosis. We review NIPT in the context of established screening and invasive technologies, the range of cytogenetic abnormalities detectable, cost, counseling and ethical issues. Current NIPT approaches involve whole-genome sequencing, targeted sequencing and assessment of single nucleotide polymorphism (SNP) differences between mother and fetus. Clinical trials have demonstrated the efficacy of NIPT for Down and Edwards syndromes, and possibly Patau syndrome, in high-risk women. Universal NIPT is not cost-effective, but using NIPT contingently in women found at moderate or high risk by conventional screening is cost-effective. Positive NIPT results must be confirmed using invasive techniques. Established screening, fetal ultrasound and invasive procedures with microarray testing allow the detection of a broad range of additional abnormalities not yet detectable by NIPT. NIPT approaches that take advantage of SNP information potentially allow the identification of parent of origin for imbalances, triploidy, uniparental disomy and consanguinity, and separate evaluation of dizygotic twins. Fetal fraction enrichment, improved sequencing and selected analysis of the most informative sequences should result in tests for additional chromosomal abnormalities. Providing adequate prenatal counseling poses a substantial challenge given the broad range of prenatal testing options now available.
Topics: Biomarkers; Chorionic Gonadotropin, beta Subunit, Human; Chromosome Disorders; Chromosomes, Human, Pair 13; Down Syndrome; Female; Genetic Counseling; Genetic Testing; Gestational Age; Humans; Infant, Newborn; Maternal Age; Nuchal Translucency Measurement; Personal Autonomy; Pregnancy; Pregnancy-Associated Plasma Protein-A; Prenatal Diagnosis; Risk Factors; Trisomy; Trisomy 13 Syndrome; Ultrasonography, Prenatal; alpha-Fetoproteins
PubMed: 23765643
DOI: 10.1002/uog.12513 -
PloS One 2020Birth defects are prenatal morphological or functional anomalies. Associations among them are studied to identify their etiopathogenesis. The graph theory methods allow...
Birth defects are prenatal morphological or functional anomalies. Associations among them are studied to identify their etiopathogenesis. The graph theory methods allow analyzing relationships among a complete set of anomalies. A graph consists of nodes which represent the entities (birth defects in the present work), and edges that join nodes indicating the relationships among them. The aim of the present study was to validate the graph theory methods to study birth defect associations. All birth defects monitoring records from the Estudio Colaborativo Latino Americano de Malformaciones Congénitas gathered between 1967 and 2017 were used. From around 5 million live and stillborn infants, 170,430 had one or more birth defects. Volume-adjusted Chi-Square was used to determine the association strength between two birth defects and to weight the graph edges. The complete birth defect graph showed a Log-Normal degree distribution and its characteristics differed from random, scale-free and small-world graphs. The graph comprised 118 nodes and 550 edges. Birth defects with the highest centrality values were nonspecific codes such as Other upper limb anomalies. After partition, the graph yielded 12 groups; most of them were recognizable and included conditions such as VATER and OEIS associations, and Patau syndrome. Our findings validate the graph theory methods to study birth defect associations. This method may contribute to identify underlying etiopathogeneses as well as to improve coding systems.
Topics: Congenital Abnormalities; Data Science; Databases, Factual; Humans; Infant, Newborn; Statistical Distributions
PubMed: 32442191
DOI: 10.1371/journal.pone.0233529