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1.
São Paulo; s.n; 2022. 73 p.
Thesis in Portuguese | LILACS | ID: biblio-1361891

ABSTRACT

Introdução. A síndrome de Down (SD), também denominada trissomia 21 (T21), é a cromossomopatia mais frequentemente associada à deficiência intelectual. A informação sobre as potencialidades e dificuldades funcionais das crianças com T21 pode auxiliar pais, terapeutas, gestores da saúde e educadores, favorecendo serviços de apoio à saúde e educação dessa população. Objetivo. Avaliar as habilidades funcionais e a assistência prestada pelos pais de crianças e adolescentes com T21 em idade escolar e explorar a eventual influência de algumas características socioambientais. Método. Estudo observacional, analítico, transversal com amostra de conveniência composta por 44 crianças em idade escolar e adolescentes, parte de um estudo anterior, cujos dados foram coletados através da aplicação do Inventário de Avaliação Pediátrica de Incapacidades (PEDI) e respondidos pelos pais de crianças e adolescentes com T21 que aceitaram participar do estudo, após terem assinado o termo de consentimento livre e esclarecido. Resultados. 45,5% eram crianças e adolescente com idade entre 7 anos e 7 meses a 12 anos e 54,5% entre 12 anos e 1 mês a 19 anos e 6 meses, predominando o sexo masculino (63,5%). 36,6% tiveram diagnóstico de cardiopatia congênita, 93,0% frequentavam escolas. Dos cuidadores 47,6% tinham apenas o primeiro grau incompleto. Quanto ao acompanhamento terapêutico algumas crianças e adolescentes ainda recebiam cuidados: por fisioterapeutas (9,1%), por fonoaudiólogos (31,8%) e por terapeutas ocupacionais (13,6%). Observou-se diferença estatisticamente significante (p<0,005) no domínio função social e o grau de assistência prestado pelo cuidador no mesmo. As demais relações entre o grau de desempenho da criança e o grau de atenção que o cuidador presta nos demais domínios não evidenciaram diferenças estatisticamente significantes. Quanto às outras variáveis apenas idade e frequência à escola da criança e do adolescente, bem como, receber assistência de Fisioterapia e Fonoaudiologia mostraram discrepâncias entre desempenho e o grau de cuidado prestado, de maneira significante estatisticamente no que se refere ao domínio de autocuidado e função social. Conclusão. A interpretação desses resultados revela haver um descompasso no domínio função social entre o desempenho das crianças e adolescentes e o grau de assistência prestada pelos cuidadores, que parece ser excessiva em relação às necessidades destas crianças e adolescentes. Com relação a outras variáveis apenas idade, frequência à escola e os cuidados de Fisioterapia e Fonoaudiologia mostraram que podem influenciar positiva ou negativamente o desempenho da criança e do adolescente e a relação entre estes e o cuidador, particularmente nos domínios de autocuidado e função social.


Background. Down syndrome (DS), also called trisomy 21 (T21), is the most common chromosomal disorders associated with intellectual disability. Information about the potential and functional difficulties of children with T21 can help parents, therapists, health managers and educators, favoring health support services and education for this population. Objective. Evaluate the functional abilities and the care provided by parents of school-age children and adolescents with T21 and explore the possible influence of some socio-environmental characteristics. Method. Observational, analytical, cross-sectional study with a convenience sample of 44 school-age children and adolescents, part of a previous study, whose data were collected through the application of the Pediatric Evaluation of Disability Inventory (PEDI) and answered by the parents of children and adolescents with T21 who agreed to participate in the study, after signing the informed consent form. Results. 45.5% were children and adolescents aged between 07 years old and 07 months to 12 years old, and 54.5% between 12 years old and 01 month to 19 years old and 06 months, predominantly male (63.5%). 36.6% were diagnosed with congenital heart disease, 93.0% attended schools. As per the caregivers, 47.6% had only an incomplete elementary school. As for therapeutic follow-up, some children and adolescents still receiving care: by physical therapists (9.1%), by speech therapists (31.8%) and by occupational therapists (13.6%). There was a statistically significant difference (p<0.005) in the social function domain and the degree of care assistance provided by the caregiver. The other relationships between the child's level of performance and the level of attention the caregiver pays in the different domains did not show statistically significant differences. As for the other variables, only the age and school attendance of the child and the adolescent, as well as the ones receiving physical therapy and speech therapy assistance, showed discrepancies between performance and the degree of care provided, in a statistically significant way concerning the domain of selfcare and social function. Conclusion. The interpretation of these results reveals a mismatch in the social function domain between the performance of the children and the adolescents and the degree of assistance provided by caregivers, which seems to be excessive to the needs of these children and adolescents. Regarding the other variables, only the age, the school attendance, and the Physical Therapy and Speech Therapy care showed that they can positively or negatively influence the performance of the child and the adolescent and the relationship between them and the caregiver, particularly in the domains of self-care and social function.


Subject(s)
Child , Adolescent , Trisomy , Public Health , Caregivers , Down Syndrome , Functional Status , Child Health , Adolescent Health
2.
Rev. venez. oncol ; 33(1): 2-10, mar. 2021. ilus, tab
Article in Spanish | LILACS, LIVECS | ID: biblio-1147430

ABSTRACT

Presentar nuestra experiencia de 18 años en el tratamiento con radioterapia y evaluar cifras de control tumoral local en pacientes con diagnóstico de tumor de células gigantes tenosinovial difuso sinovitis villonodular pigmentada difusa. 33 pacientes, tratados durante el período 2000-2018. En 19 (57,6 %) se practicó sinovectomía parcial, 10 (30,3 %) fueron tratados con artroplastia y sinovectomía, 4 (12,2 %) con sinovectomía total. 32 pacientes recibieron radioterapia posoperatoria, 1 paciente preoperatoria. Técnica más empleada fue planificación 2D 51,5 % seguida de conformada con planificación 3D (RTC3D) 48,5 %. La dosis total promedio administrada 44 Gy (rango 10,5 - 50). Tiempo promedio de tratamiento radiante 28 días (8-35). Tiempo de seguimiento entre 0,7 - 240,8 meses, mediana 12 meses, promedio 52,1 meses. 26 pacientes (79 %) presentaron mejoría de la sintomatología inicial y 6 (18 %) refirieron estabilidad de los síntomas. La respuesta clínica al tratamiento en relación al tiempo de seguimiento, 12 pacientes (36,4 %) estaban asintomáticos, 10 con un seguimiento mayor a 60 meses; 14 (42,4 %) refieren respuesta clínica satisfactoria, (2 con un seguimiento mayor a 60 meses) 6 pacientes presentaban enfermedad estable, para un control local del 97 %. El 87,9 % presentaron dermatitis grado I, 1 desarrolló dermatitis grado II, 3 no presentaron efectos adversos. La radioterapia es una modalidad de tratamiento muy efectiva como adyuvante a la sinovectomía, observándose altas tasas de control local de la enfermedad con una baja morbilidad(AU)


To report our eighteen-year experience with radiation therapy in the treatment of diffuse tenosinovial giant cell tumor / diffuse pigmented villonodular synovitis and to assess local control of the disease. A review of 33 patients with treated with radiation therapy during the period 2000-2018 was done. 19 (57.6 %) partial synovectomy was performed, 10 (30.3 %) underwent arthroplasty plus synovectomy, 4 (12.2 %) total synovectomy. 32 patients received radiotherapy postoperative and 1 pre-operative. Most common technique employed was conventional (2D) in 51.5 % and 3D conformal (3DCRT) in 48.5 %. The average total dose was 44 Gy (range 10.5-50), with a mean treatment time of 28 days (8-35). Follow-up time ranged from 0.7- 240.8 months, median time and mean time of 12 and 52.1 months respectively After RT 26 (79 %) of the patients obtained improvement of the initial symptoms and 6 (18 %) were stable. 12 patients (36.4 %) were asymptomatic with follow-up time longer than 36 months (10 of 12 had follow-up time >60 months), 14 (42.4 %) had significant clinical improvement (2 of 14 had follow-up time >60 months), and 6 had stable disease, local control of 97 %. Complications were few, acute skin toxicity was grade I in 29 (87.9%) and grade II in 1 patient. There was no significant chronic toxicity. Radiation therapy is an effective adjuvant treatment modality after synovectomy in patients with high local control rates and low morbidity(AU)


Subject(s)
Humans , Male , Female , Trisomy/genetics , Giant Cell Tumor of Tendon Sheath/etiology , Giant Cell Tumor of Tendon Sheath/radiotherapy , Arthroscopy , Musculoskeletal Physiological Phenomena , Neoplasm Metastasis
3.
Diagn. tratamento ; 26(1): 4-11, jan.-mar. 2021. quad, fig
Article in Portuguese | LILACS | ID: biblio-1247971

ABSTRACT

Os sinais clínicos da síndrome de Klinefelter foram observados pela primeira vez em 1942, mas sua etiologia só foi definida em 1959. Trata-se de uma condição genética na qual pelo menos um cromossomo X extra é adicionado ao cariótipo masculino normal (46,XY) e acomete cerca de 1 em cada 500 homens. É caracterizada por variabilidade fenotípica que leva a atraso ou ausência de diagnóstico, com uma estimativa de 50% a 75% de homens com Síndrome de Klinefelter nunca obterem o diagnóstico correto. Apesar de o cariótipo clássico (47,XXY) ser encontrado em 80%-90% dos pacientes e o mosaicismo (46,XY/47,XXY) nos 10% restantes, outros cariótipos podem ser encontrados menos frequentemente. Nesse sentido, este estudo tem por finalidade descrever os possíveis cariótipos identificados nos pacientes com Síndrome de Klinefelter. Os resultados mostram que a Síndrome de Klinefelter é usualmente diagnosticada na vida adulta e caracterizada por uma heterogeneidade citogenética quanto aos cariótipos possíveis apresentados pelos pacientes afetados. A condição foi diagnosticada precocemente quando associada à anomalia dos cromossomos autossomos, excesso de cromossomos X extra ou quando foi realizado diagnóstico pré-natal por idade materna avançada. É imprescindível que os profissionais de saúde, em especial os médicos, se familiarizem mais com essa condição, pois o diagnóstico correto e precoce permite a intervenção e tratamento adequados visando melhorar a qualidade de vida desses indivíduos.


Subject(s)
Trisomy , Cytogenetic Analysis , Karyotype , Infertility , Klinefelter Syndrome
4.
Article in Chinese | WPRIM | ID: wpr-880084

ABSTRACT

OBJECTIVE@#To analyze the clinical characteristics and treatment effects of children with acute megakaryoblastic leukemia without down syndrome (non-DS-AMKL).@*METHODS@#The clinical data of 19 children with non-DS-AMKL treated in the Pediatric Hematology Ward in Sun Yat-sen Memorial Hospital of Sun Yat-sen University from May 2008 to April 2018 were analyzed retrospectively. The clinical characteristics, laboratory test and treatment methods of the children were concluded. All patients were followed up to evaluate the effect of treatment.@*RESULTS@#The 19 cases of children included nine male and ten female, the median age of onset was 2 years old. The clinical manifestations showed nonspecific. The median white blood cell of peripheral blood was 15.88×10@*CONCLUSION@#Non-DS-AMKL was rare in children and difficult to be diagnosed. Determination of MICM classification as early as possible was helpful for diagnosis, and genetic testing played an important role for diagnosis and prognosis evaluation. Early hematopoietic stem cell transplantation in patients with CR after chemotherapy might be an effective way to cure AMKL.


Subject(s)
Child , Child, Preschool , DEAD-box RNA Helicases , DNA Helicases , Down Syndrome , Female , Humans , Leukemia, Megakaryoblastic, Acute/genetics , Male , Prognosis , Retrospective Studies , Trisomy
5.
Article in Chinese | WPRIM | ID: wpr-879589

ABSTRACT

OBJECTIVE@#To explore the genetic basis for a neonate with Pierre-Robin sequence.@*METHODS@#The child was subjected to chromosomal karyotyping, single nucleotide polymorphism array (SNP-array)-based comparative genomic hybridization and fluorescence in situ hybridization (FISH) analysis.@*RESULTS@#The child has featured microgthnia, glossoptosis, upper airway obstruction, mandible dehiscence and short neck. He was found to have a karyotype of 46,XY,der(4)add(4)(q34). Her mother's karyotype was determined as 46,XX,t(1;4)(q43;q34), while his father was 46,XY. SNP-array analysis suggested the child to be arr [hg19] 1q42.2q44 (232 527 958-249 202 755)× 3; 4q34.3q35.2 (168 236 901-190 880 409)× 1. The result of SNP-array for both parents was normal. FISH analysis confirmed that his mother has carried a balanced t(1;4)(q42;34) translocation. The aberrant chromosome 4 in the child has derived from his mother's translocation, which gave rise to partial 1q trisomy and 4q monosomy.@*CONCLUSION@#The 1q42.2q44 duplication and 4q34.3q35.2 deletion of the child probably underlay his abnormal phenotype of Pierre-Robin sequence.


Subject(s)
Child , Comparative Genomic Hybridization , Female , Humans , In Situ Hybridization, Fluorescence , Infant, Newborn , Male , Monosomy , Pierre Robin Syndrome/genetics , Translocation, Genetic , Trisomy/genetics
6.
Article in Chinese | WPRIM | ID: wpr-879580

ABSTRACT

OBJECTIVE@#To assess the impact of confined placental mosaicism (CPM) on non-invasive prenatal testing (NIPT) and pregnancy outcomes.@*METHODS@#Copy number variation sequencing (CNV-seq) and single nucleotide polymorphism array (SNP-array) were carried out on placental specimen sampled from eight pregnancies with confirmed false-positive NIPT results. The impact of CPM on NIPT and pregnancy outcomes were analyzed based on the laboratory tests and clinical characteristics.@*RESULTS@#Five of the eight cases with false-positive NIPT results were proven to be CPM involving trisomy 9, 13, 21, 22, and X, respectively. The mosaic ratios for different placental regions have varied from 4% to 80%. Two fetuses with confirmed CPM showed fetal growth restriction (FGR) and additional ultrasound abnormalities, 1 fetus showed only FGR. The remaining two fetuses showed normal growth.@*CONCLUSION@#NIPT is highly sensitive to CPM, whilst CPM is an important cause for false-positive NIPT result. CPM may be associated with FGR. Investigation of the presence of CPM is important for both pre- and post-test genetic counseling and management of the pregnancy.


Subject(s)
DNA Copy Number Variations , Female , Humans , Mosaicism , Pregnancy , Pregnancy Outcome , Prenatal Diagnosis , Trisomy
7.
Article in Chinese | WPRIM | ID: wpr-879579

ABSTRACT

OBJECTIVE@#To explore the value of non-invasive prenatal testing (NIPT) for the detection of fetal chromosome copy number variations (CNVs).@*METHODS@#Clinical data of 18 661 pregnant women who underwent NIPT were collected. For fetuses suspected for carrying CNVs, amniotic fluid samples were collected for chromosomal karyotyping and/or chromosomal microarray analysis (CMA).@*RESULTS@#Among all samples, NIPT suggested that 58 fetuses carried trisomy 21, 18 carried trisomy 18, 19 carried trisomy 13, 1 carried trisomies 18 and 21. Eighty eight women accepted invasive prenatal diagnosis. The results of CMA in 59 cases were consistent with those of NIPT, which yielded a consistency rate of 67.05%. In addition, 37 cases of fetal CNVs were detected by NIPT, of which 19 (15 microdeletions and 4 microduplications) have accepted invasive prenatal diagnosis. In 14 cases, the results were consistency with those of NIPT, with a consistent rate of 73.68%.@*CONCLUSION@#NIPT features high sensitivity and accuracy. Invasive prenatal diagnosis should be considered for CNVs detected by NIPT, and by tracing its parental origin, it can provide guidance for clinical practice.


Subject(s)
Chromosomes , DNA Copy Number Variations , Female , Fetus , Humans , Pregnancy , Prenatal Diagnosis , Trisomy/genetics
8.
Article in Chinese | WPRIM | ID: wpr-879578

ABSTRACT

OBJECTIVE@#To evaluate the efficacy of non-invasive prenatal screening (NIPS) for fetal sex chromosome anomalies.@*METHODS@#A retrospective analysis was carried out for 20 802 women undergoing NIPS screening. For 165 cases suspected for fetal sex chromosomal anomalies, the results of invasive prenatal diagnosis were obtained.@*RESULTS@#Among the 165 cases suspected for fetal sex chromosome anomalies, 129 have accepted invasive prenatal diagnosis, and 45 were confirmed, which yielded a positive predictive value of 34.88%. These included 16 cases of 47,XYY, 10 cases of 47,XXY, 6 cases of 45,X/46,XX, 5 cases of 47,XXX, 3 cases of 45,X, 1 case of 45,X/46,X,i(X)(q10), 1 case of 45,X/46,X,del(X)(q22), 1 case of 46,X,del(X)(q22), 1 case of 46,X,del(X)(p11) and 1 case of Xp22.31 1.2 Mb deletion.@*CONCLUSION@#NIPS has limited value for detecting fetal sex chromosome anomalies. Karyotyping analysis combined with other diagnostic techniques can offer effective prenatal diagnosis for suspected cases.


Subject(s)
Aneuploidy , Female , Humans , Pregnancy , Prenatal Diagnosis , Retrospective Studies , Sex Chromosomes/genetics , Trisomy
9.
Article in Chinese | WPRIM | ID: wpr-879577

ABSTRACT

OBJECTIVE@#To analyze the indication, karyotyping result, ultrasound finding, pregnancy decision and follow-up of fetuses with sex chromosome aneuploidies (SCA) detected by non-invasive prenatal testing (NIPT) during early and midterm pregnancies.@*METHODS@#The results of 225 singleton pregnancies with fetal SCA detected by NIPT were reviewed and analyzed.@*RESULTS@#The 225 cases included 45,X (n=37), 47,XXY (n=74), 47,XXX (n=50), 47,XYY (n=56) and mosaicisms (n=8), among which 121 (53.8%) have opted to terminate the pregnancy, including 45,X (n=31), 47,XXY (n=61), 47,XXX (n=14), 47,XYY (n=12) and 3 mosaicisms. The remainder 104 (46.2%) have elected to continue with the pregnancy, among which three have opted to terminate due to abnormalities detected by ultrasonography, and two had spontaneous abortions.@*CONCLUSION@#NIPT as a first-tier screening method can effectively detect fetal trisomies 21, 13 and 18 as well as SCA. The types of fetal SCA and presence of ultrasound abnormalities are critical factors for the termination of pregnancy.


Subject(s)
Aneuploidy , Down Syndrome , Female , Fetus , Humans , Pregnancy , Prenatal Diagnosis , Sex Chromosome Aberrations , Trisomy
10.
Article in Chinese | WPRIM | ID: wpr-879575

ABSTRACT

OBJECTIVE@#To assess the value of non-invasive prenatal testing (NIPT) for the detection of fetal chromosomal aneuploidies in women with twin pregnancy.@*METHODS@#A total of 2473 women with twin pregnancy underwent the NIPT test to assess the risk for fetal chromosomal aneuploidies from January 2016 to September 2019. Those with a high risk by NIPT were confirmed by amniocentesis or chorionic villus sampling. All cases were followed up to evaluate the positive prediction value of NIPT for twin pregnancies.@*RESULTS@#Among the 2473 women, the NIPT test has identified 31 cases (1.25%) with a high risk for fetal chromosomal aneuploidies, which included 5 cases of trisomy 21, 1 case of chromosome 21 deletion, 4 cases of trisomy 18, 7 cases of sex chromosome abnormality and 14 cases of microdeletion and microduplication. By invasive prenatal diagnosis or chromosomal karyotyping analysis of neonates, 5 cases of trisomy 21, 3 cases of trisomy 18, 1 case of sex chromosome abnormality, and 2 cases of microdeletion and microduplication were confirmed, which yielded a positive predictive value of 100%, 75%, 25% and 25%, respectively.@*CONCLUSION@#NIPT can be used for the screening of fetal chromosomal aneuploidies in women with twin pregnancy with high accuracy. The method is non-invasive, safe and effective for the screening of fetal chromosomal aneuploidies, in particular trisomy 21.


Subject(s)
Aneuploidy , Chromosome Disorders , Female , Humans , Infant, Newborn , Pregnancy , Pregnancy, Twin , Prenatal Diagnosis , Trisomy , Trisomy 13 Syndrome , Trisomy 18 Syndrome
11.
Article in Chinese | WPRIM | ID: wpr-888395

ABSTRACT

OBJECTIVE@#To carry out prenatal diagnosis for a fetus with absent nasal bone by using cytogenetic and molecular techniques.@*METHODS@#Chromosomal karyotyping, single nucleotide polymorphism array (SNP-array) and fluorescence in situ hybridization (FISH) assays were applied for the diagnoses. Peripheral blood samples were also taken from the parents for chromosomal karyotyping and FISH analysis.@*RESULTS@#The fetus was found to have a 46,XX,add(21)(p11.2) karyotype, and SNP-array has revealed a 11.3 Mb duplication at 21q22.12q22.3 (hg19: 36 762 648-48 093 361), which was confirmed by FISH. Both parents were found to be normal by chromosomal karyotyping and FISH analysis. The fetus was ultimately found to have a karyotype of 46,XX,der(21)t(21;21)(p11.2;q22.1), resulting a de novo partial trisomy of 21q22.1.@*CONCLUSION@#Combined use of various techniques has enabled accurate prenatal diagnosis and genetic counseling for the fetus.


Subject(s)
Female , Humans , In Situ Hybridization, Fluorescence , Karyotyping , Nasal Bone , Pregnancy , Prenatal Diagnosis , Trisomy/genetics
12.
Article in Chinese | WPRIM | ID: wpr-888392

ABSTRACT

OBJECTIVE@#To review the clinical data of a fetus with false positive result of non-invasive prenatal testing (NIPT) due to confined placental mosaicism (CPM).@*METHODS@#Amniotic fluid sample was taken from a pregnant women with high risk for chromosome 16 aneuploidy for karyotyping analysis, single nucleotide polymorphism array (SNP array) and interphase fluorescence in situ hybridization (FISH). Genetic testing was also conducted on the fetal and maternal surface of the placenta, root of umbilical cord and fetal skin tissue after induced abortion.@*RESULTS@#Cytogenetic analysis of the amniotic fluid sample yielded a normal karyotype. SNP array revealed mosaicism (20%) of trisomy 16 in the fetus. FISH confirmed the presence of mosaicism (25%) for trisomy 16. After induced labor, all sampled sites of placenta were confirmed to contain trisomy 16 by SNP array, while the analysis of fetal skin tissue yielded a negative result.@*CONCLUSION@#CPM is an important factor for false positive NIPT result. Prenatal identification of CPM and strengthened pregnancy management are important to reduce adverse pregnancy outcomes.


Subject(s)
Amniocentesis , Chromosomes, Human, Pair 16/genetics , Cytogenetic Analysis , Female , Fetus , Humans , In Situ Hybridization, Fluorescence , Molecular Biology , Mosaicism , Placenta , Pregnancy , Prenatal Diagnosis , Trisomy/genetics
13.
Article in Chinese | WPRIM | ID: wpr-922034

ABSTRACT

OBJECTIVE@#To explore the genetic basis for a Chinese pedigree affected with mental retardation.@*METHODS@#G-banded karyotyping analysis and single nucleotide polymorphism microarray (SNP array) were used to detect the genetic variants within the family, and the origin of the variants was analyzed using UPDtool Statistics software.@*RESULTS@#The patient, a 26-year-old female, was found to have a chromosomal karyotype of 46,XX,dup(4)(q28.2q31.3),and SNP array revealed a 25.71 Mb duplication at 4q28.2-q31.3. The duplication was inherited from her father, and her fetus was found to carry the same duplication.@*CONCLUSION@#The duplication of the patient probably underlay the mental retardation. The gender of the carrier and parental origin of the duplication might have led to the variation in their clinical phenotype.


Subject(s)
Adult , Chromosome Banding , Female , Genetic Testing , Humans , Karyotyping , Male , Pedigree , Trisomy/genetics
14.
Article in Chinese | WPRIM | ID: wpr-922017

ABSTRACT

OBJECTIVE@#To analyze the cause and pregnancy outcome for non-reportable cell-free DNA (cfDNA) results during non-invasive prenatal testing (NIPT).@*METHODS@#cfDNA was extracted from maternal plasma from 5898 singleton pregnancies at 12 to 22 gestational weeks and underwent NIPT with strict quality control standards. For those with sub-standard results, redraw or invasive prenatal procedures were recommended.@*RESULTS@#Among the 5898 cases, 32 have failed for the initial NIPT, including 17 cases with substandard cffDNA%, 10 cases with data fluctuation after twice library constructing and sequencing, and 5 cases with unidentifiable sex chromosome abnormalities. For these 32 cases, 2 directly underwent amniocentesis, and karyotyping analysis showed both were normal. Six of the 30 redrawn cases finally turned out to be nonreportable. The final nonreportable rate was therefore 0.1% (8/5898). Of the redrawn cases, 1 trisomy 21, 1 trisomy 18 and 1 trisomy 13 high risk-cases were identified, which were all confirmed to be false positive. Among the 6 nonreportable cases, 2 women underwent invasive prenatal testing, and 1 was found to have a normal fetal karyotype, while another was found to have an abnormal karyotype of mos45,X[32]/46,XY[18]. The other 4 nonreportable cases who did not accept invasive prenatal testing have all reported normal child development at follow-up.@*CONCLUSION@#The main reason for nonreportable NIPT results was low cffDNA%. The high success rate of the redrawn cases has effectively increased the overall NIPT success rate and reduced the number of the cases necessitating invasive prenatal diagnosis. The initially nonreportable women may consider retesting after careful counseling with informed consent.


Subject(s)
Aneuploidy , Child , Female , High-Throughput Nucleotide Sequencing , Humans , Noninvasive Prenatal Testing , Pregnancy , Prenatal Diagnosis , Trisomy , Trisomy 18 Syndrome/genetics
15.
Article in Chinese | WPRIM | ID: wpr-921994

ABSTRACT

OBJECTIVE@#To assess the clinical value of non-invasive prenatal testing (NIPT) for the screening of trisomy and copy number variations (CNVs) of chromosomes 21, 18 and 13.@*METHODS@#From January 2015 to December 2019, 40 628 pregnant women underwent NIPT testing using high-throughput sequencing and bioinformatics analysis to test the cell-free fetal DNA in maternal plasma. High-risk pregnant women underwent invasive prenatal diagnosis, while low-risk ones were followed up by telephone.@*RESULTS@#The three most common indications included intermediate risk of serological screening, high risk of serological screening and advanced maternal age. Among all pregnant women, 257 cases were detected as trisomy 21, 18 and 13 (170, 49 and 38 cases, respectively). 227 cases chose invasive prenatal diagnosis, with respectively 122, 28 and 10 cases confirmed. The positive predictive value (PPV) was 81.33% (122/150), 65.12% (28/43), 29.41% (10/34), respectively. Two false negative cases of trisomy 18 were found during follow-up. Meanwhile, NIPT has detected 46 cases (15, 16 and 15 cases, respectively) CNVs on chromosomes 21, 18 and 13, among which 37 cases underwent invasive prenatal diagnosis. There were 5, 3 and 5 positive cases, which yielded a PPV of 41.67% (5/12), 25%(3/12) and 33.33%(5/15), respectively. Two other chromosome CNVs were accidentally discovered among the false positive samples.@*CONCLUSION@#The incidence of chromosomal abnormalities in the serological screening high-risk group was 52.02%, which was significantly higher than other groups. NIPT has a high sensitivity and specificity for the screening of trisomies 21, 18 and 13, while its accuracy for detecting CNVs of chromosomes 21, 18 and 13 needs to be improved. As a screening method, NIPT has a great clinical value, though there are still limitations of false positive and false negative results.Comprehensive pre- and post-test genetic counseling should be provided to the patients.


Subject(s)
Aneuploidy , Chromosome Disorders/genetics , Chromosomes , DNA Copy Number Variations , Down Syndrome/genetics , Female , Humans , Pregnancy , Prenatal Diagnosis , Trisomy/genetics , Trisomy 18 Syndrome/genetics
16.
Article in Chinese | WPRIM | ID: wpr-921988

ABSTRACT

OBJECTIVE@#To investigate the clinical effect of expanded non-invasive prenatal testing (NIPT-plus) for serological screening of fetuses with high-risk for Down's syndrome.@*METHODS@#To retrospectively study the screening results, prenatal diagnosis and pregnancy outcomes of 1561 midterm pregnant women underwent NIPT-plus in our center from September 2018 to December 2019 due to serological screening with high-risk for Down's syndrome(≥ 1/270).@*RESULTS@#45 pregnant women had a high-risk with a detection rate of 2.88% (45/1561) of 1561 pregnant women who performed NIPT-plus. 40 pregnant women underwent invasive prenatal diagnosis and 20 cases were confirmed with a positive predictive value of 50.0% (20/40). Statistical analysis showed that NIPT-plus has a high detection rate for trisomy 21, sex chromosomal aneuploidy, and MMS in the 0.1/90 group, but with a positive predictive value lower than the other two groups.@*CONCLUSION@#The detection rate and PPVs of NIPT-plus in different groups of Down's high-risk pregnant women was different. NIPT-plus can reduce the pressure of prenatal diagnosis and can be used as a screening method for Down's syndrome with high risk in pregnant women.


Subject(s)
Down Syndrome/genetics , Female , Fetus , Humans , Pregnancy , Prenatal Diagnosis , Retrospective Studies , Trisomy
17.
Article in Chinese | WPRIM | ID: wpr-921965

ABSTRACT

OBJECTIVE@#To explore whether it is necessary to choose NIPT-plus for the prenatal screening of pregnant women.@*METHODS@#The results of NIPT and NIPT-plus sequencing data, fetal DNA concentration, prenatal diagnosis and pregnancy outcome of 50 pregnant women were compared.@*RESULTS@#Compared with NIPT, NIPT-plus attained similar fetal DNA concentration and a 4.4-fold increase in sequencing data. NIPT was able to detect 4 cases of 21-trisomy, 2 cases of 18-trisomy, and 9 cases of sex chromosome aneuploidies (SCAs) signaled by NIPT-plus, but missed one 18-trisomy, and failed to detect rare chromosome aneuploidies (RCAs) and microdeletion/microduplication syndromes (MMS). The PPVs of NIPT-plus for 21-trisomy, 18-trisomy, SCAs, MMS and RCAs were 100%, 100%, 44.4%, 30.4% and 0%, respectively. And those of NIPT for 21-trisomy, 18-trisomy, and SCAs were 100%, 100%, and 44.4%, respectively.@*CONCLUSION@#It is necessary for pregnant women to select NIPT-plus to improve the detection rate of common trisomies, SCAs and disease-specific MMS, therefore reduce the occurrene of birth defect.


Subject(s)
Aneuploidy , Female , Humans , Pregnancy , Pregnant Women , Prenatal Diagnosis , Trisomy , Trisomy 13 Syndrome , Trisomy 18 Syndrome
18.
REVISA (Online) ; 10(3): 493-500, 2021.
Article in Portuguese | LILACS | ID: biblio-1337550

ABSTRACT

Objetivo: identificar por meio de uma revisão narrativa de literatura as patologias mais recorrentes em indivíduos com Síndrome de Down. Método: trata-se de uma revisão narrativa. Realizou-se um levantamento da literatura no Portal Pubmed e nas bases de dados de publicações científicas indexadas: Scientific Eletronic Library Online (Scielo), Literatura Latino-Americana e do Caribe em Ciências da Saúde (LILACS), Base de Dados de Enfermagem (BDENF) e Cumulative Index to Nursing and Allied Health Literature (CINAHL) e Portal PubMed, usando os descritores "Down's syndrome", "Pathologies", "Trisomy 21", "Intellectual Disability", "Clinical manifestations". Resultados: foram encontrados 696 artigos, dos quais 24 foram analisados na íntegra, destes, foram selecionados 9 artigos que compuseram a amostra desta revisão. A maioria dos estudos selecionados mensurou as características fenotípicas peculiares nos indivíduos com essa anomalia, a saber: olhos oblíquos, orelhas baixas, braquidactilia, hipotonia, baixa estatura, braquicefalia, fissuras oblíquas na pálpebra, epicanto, manchas de Brushfield na íris, dentre outras. Conclusão: torna-se necessária uma atenção e acompanhamento regular dos profissionais de saúde acerca das patologias malignas, doenças autoimunes e inflamatórias que acometem as pessoas com SD.


Objective: to identify through a narrative literature review the most recurrent pathologies in individuals with Down syndrome. Method: this is a narrative review. A survey of literature was conducted on the Pubmed Portal and in the databases of indexed scientific publications: Scientific Electronic Library Online (Scielo), Latin American and Caribbean Literature on Health Sciences (LILACS), Nursing Database (BDENF) and Cumulative Index to Nursing and Allied Health Literature (CINAHL) and PubMed Portal, using the descriptors "Down's syndrome", "Pathologies", "Trisomy 21", "Intellectual Disability" , "Clinical manifestations". Results: 696 articles were found, of which 24 were fully analyzed, of which 9 articles were selected that comprised the sample of this review. Most of the selected studies measured the peculiar phenotypic characteristics in individuals with this anomaly, namely: oblique eyes, low ears, brachydactyly, hypotonia, short stature, brachycephaly, oblique clefts in the eyelid, epicant, Brushfield spots on the iris, among others. Conclusion: it is necessary to have regular attention and follow-up of health professionals about malignant pathologies, autoimmune and inflammatory diseases that affect people with DS.


Objetivo: identificar a través de una literatura narrativa revisar las patologías más recurrentes en individuos con síndrome de Down. Método: esta es una revisión narrativa. Una encuesta de literatura se realizó en el Portal Pubmed y en las bases de datos de publicaciones científicas indexadas: Biblioteca Electrónica Científica en Línea (Scielo), Literatura Latinoamericana y del Caribe en Ciencias de la Salud (LILACS), Base de Datos de Enfermería (BDENF) e Índice Acumulativo de Literatura de Enfermería y Salud Aliada (CINAHL) y PubMed Portal, utilizando los descriptores "Síndrome de Down", "Patologías", "Trisomy 21", "Discapacidad Intelectual" , "Manifestaciones clínicas". Resultados: se encontraron 696 artículos, de los cuales 24 fueron analizados en su totalidad, de los cuales se seleccionaron 9 artículos que comprendían la muestra de este examen. La mayoría de los estudios seleccionados midieron las peculiares características fenotípicas en individuos con esta anomalía, a saber: ojos oblicuos, orejas bajas, braquidactilia, hipotonía, estatura baja, braquicefalia, hendiduras oblicuas en el párpado, epicante, manchas de Brushfield en el iris, entre otros. Conclusión: es necesario tener atención regular y seguimiento de los profesionales de la salud sobre patologías malignas, enfermedades autoinmunes e inflamatorias que afectan a las personas con DS.


Subject(s)
Down Syndrome , Signs and Symptoms , Trisomy , Intellectual Disability
19.
Rev. chil. obstet. ginecol. (En línea) ; 85(4): 335-342, ago. 2020. tab
Article in Spanish | LILACS | ID: biblio-1138629

ABSTRACT

INTRODUCCIÓN: En Chile, la norma técnica de la Ley N° 21.030 de 2017 considera tres aneuploidías como letales; las trisomías 9, 13 y 18, cuyo diagnóstico se confirma con un cariograma. No existe a la fecha registro nacional de frecuencia prenatal de estas patologías. OBJETIVO: Determinar la frecuencia de trisomías 9, 13 y 18 en los estudios citogenéticos prenatales en muestras de células obtenidas con amniocentesis y cordocentesis, procesados en el Laboratorio de Citogenética del Hospital Clínico Universidad de Chile. MATERIALES Y MÉTODOS: Estudio descriptivo y retrospectivo de los resultados de cariograma de líquido amniótico (LA) y sangre fetal (SF), procesados desde enero de 2000 a diciembre de 2017. RESULTADOS: Se incluyeron 2.305 muestras (402 de SF y 1.903 de LA), de ellas 442 (19%) fueron trisomías letales (TL), dentro de ellas fueron TL libres 416 (95%), TL estructurales 15 (2,7%) y mosaicos 11 (2,3%). La trisomía 18 fue en ambos tipos de muestra la más frecuente (73,5%), seguida de trisomía 13 (24,2%) y trisomía 9 (2,3%). Se desglosan resultados conforme al tipo de TL, muestra, motivo de derivación, edad materna y edad gestacional. CONCLUSIONES: El cariograma confirma el diagnóstico de aneuploidías y aporta datos relevantes para el consejo genético. La cromosomopatía letal más frecuente fue la trisomía 18. Se observó que uno de cada cinco cariogramas referidos por anomalías congénitas y/o marcadores de aneuploidía revelaban una TL.


INTRODUCTION: In Chile, the technical standard of Law No. 21,030 of 2017 considers three aneuploidies as lethal; trisomies 9, 13 and 18, whose diagnosis is confirmed with a Karyotype. To date there is not a national registry of prenatal frequency of these pathologies. OBJECTIVE: To determine the frequency of trisomies 9, 13 and 18 in prenatal cytogenetic studies in samples of cells obtained with amniocentesis and cordocentesis, processed in the Cytogenetics Laboratory of the Universidad de Chile Clinical Hospital. MATERIALS AND METHODS: Descriptive and retrospective study of the results of karyotypes of amniotic fluid (LA) and fetal blood (SF) processed from January 2000 to December 2017. Results: 2,305 samples (402 of SF and 1,903 of LA) were included, of which 438 (19%) were lethal trisomies (TL), corresponding to free TL 416 (95%), structural TL 12 (2,7%) and mosaics 10 (2.3%). Trisomy 18 was the most frequent in both types of sample (73,5 %), followed by trisomy 13 (24,2%) and trisomy 9 (2.3%). RESULTS are shown according to the type of TL, sample, reason for referral, maternal age and gestational age. CONCLUSIONS: The karyotype confirms the diagnosis of aneuploidies and provides relevant data for genetic counseling. The most frequent lethal chromosomopathy was trisomy 18. It was observed that one in five karyotypes referred for congenital anomalies and / or aneuploidy markers revealed a TL.


Subject(s)
Humans , Female , Pregnancy , Adolescent , Adult , Middle Aged , Young Adult , Prenatal Diagnosis/methods , Cytogenetic Analysis , Trisomy 13 Syndrome/diagnosis , Trisomy 18 Syndrome/diagnosis , Prenatal Diagnosis/statistics & numerical data , Trisomy , Epidemiology, Descriptive , Retrospective Studies , Fetal Blood , Karyotype , Trisomy 13 Syndrome/genetics , Trisomy 13 Syndrome/epidemiology , Trisomy 18 Syndrome/genetics , Trisomy 18 Syndrome/epidemiology , Amniocentesis , Amniotic Fluid , Aneuploidy
20.
Rev. chil. obstet. ginecol. (En línea) ; 85(1): 68-73, feb. 2020. graf
Article in Spanish | LILACS | ID: biblio-1092777

ABSTRACT

INTRODUCCIÓN: La hipoplasia de timo es una entidad que puede asociarse a múltiples patologías fetales de ahí la importancia de su diagnóstico y su manejo. OBJETIVO: Utilidad y métodos de evaluación del timo en la ecografía morfológica y valor de la interpretación del análisis genético de los microarrays. CASO CLÍNICO: Se presenta el caso clínico de una gestante en la que se detecta una glándula tímica hipoplásica utilizando para su medición el índice timo-torácico en un plano de tres vasos. Ante estos hallazgos se realiza una amniocentesis para análisis genético usando la QF-PCR y un análisis ARRAY-CGH. RESULTADOS: En el análisis de ARRAY-CGH se observa una duplicación patológica en mosaico compatible con una trisomía del cromosoma 10, alteración genética infrecuente de la que se han reportado unos 50 casos en recién nacidos vivos. Esta alteración presenta un rango muy amplio de alteraciones, desde malformaciones graves a niños completamente normales. En los controles posteriores la gestación es normoevolutiva y finaliza en la semana 40 mediante un parto eutócico de inicio espontáneo naciendo un bebé fenotípicamente normal con un timo de menor tamaño del habitual siendo pronto para saber las consecuencias de esta alteración en su inmunidad. CONCLUSIONES: Por un lado, el timo es una estructura fácil de visualizar en la ecografía morfológica de la semana 20 y su medición mediante el índice timo-torácico nos aporta información útil acerca de posibles patologías fetales. Por otro, tener en cuenta que debemos ser muy cautelosos con la interpretación de resultados de pruebas genéticas cuando éstas no tienen un significado clínico claro.


INTRODUCTION : Thymus hypoplasia can associate many different pathologies so is highly important the diagnosis and the management. OBJECTIVE: Utility and methods in the evaluation of the fetal thymus in the morphological ultrasound and interpretation of microarray results. CLINICAL CASE: We present a case of fetal hypoplastic thymus gland in a pregnant woman. We measure it using the thymus-torax index in a three vessel view. A genetical analysis was made using QF-PCR and Array-CGH. RESULTS: In the ARRAY-CGH analysis it is found a pathological mosaicism that match with chromosome 10 trisomy, a very uncommon genetical alteration with only 50 reported cases. This trisomy can traduce from serious malformations to complete normal children. The parents decide to continue with the pregnancy and in week 40 it finishes with an uncomplicated delivery of a healthy child. In the newborn pediatrics remark a thymus gland smaller than expected but it is early to say if it will have or not consequences in its immunity. CONCLUSION: On one hand the thymus is a structure that we can easily display in the morphological ultrasound in the 20 week of pregnancy and its measure, using the thymus-torax index, can be very helpful in the detection of fetal pathologies. On the other hand, is important being careful when we interpret a genetical alteration without a clear clinical significance.


Subject(s)
Humans , Female , Pregnancy , Infant, Newborn , Thymus Gland/abnormalities , Thymus Gland/diagnostic imaging , Trisomy/genetics , Trisomy/diagnosis , Chromosomes, Human, Pair 10 , Polymerase Chain Reaction/methods , Ultrasonography, Prenatal , Chromosome Aberrations , Microarray Analysis , Amniocentesis
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