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1.
Article in Chinese | WPRIM | ID: wpr-879581

ABSTRACT

OBJECTIVE@#To apply nanopore third-generation sequencing for the detection of chromosomal aneuploidy samples, and explore its performance and application prospects.@*METHODS@#DNA extracted from two human cell lines with X chromosome monosomy and 22.5 Mb deletion in 7q11.23-q21.3 region was sequenced with a MinION sequencer, and the results were analyzed.@*RESULTS@#Respectively, 555 872 and 2 679 882 reads were obtained from the two samples within 24 hours, with genome coverage being 53.75% and 88.63%. With a sequencing depth of 0.81× and 2.40× , respectively, the abnormal chromosomal regions could be detected by comparative analysis using Minimap2.@*CONCLUSION@#With low-depth whole genome sequencing, the use of nanopore third-generation sequencing is expected to complete the detection and analysis of chromosomal aneuploidy samples within 24 hours, but its further application and promotion needs to overcome the cost constraints.


Subject(s)
Aneuploidy , Chromosomes , High-Throughput Nucleotide Sequencing , Humans , Sequence Analysis, DNA , Technology
2.
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
3.
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
4.
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
5.
Article in Chinese | WPRIM | ID: wpr-879532

ABSTRACT

OBJECTIVE@#To assess the value of chromosomal microarray analysis (CMA) for the detection of fetal anomalies among pregnant women with advanced age.@*METHODS@#CMA results of 562 cases, in addition with the outcome of pregnancy and neonatal follow-up were reviewed.@*RESULTS@#Among the 562 amniotic fluid samples, 73 cases (12.99%) of fetal chromosomal abnormalities were detected, which included 21 cases (3.73%) of chromosomal aneuploidies and 52 cases (9.25%) of copy number variations (CNVs). The latters included 27 cases of pathological CNVs (4.80%), 4 cases of possible pathogenic CNVs (0.71%) and 42 cases of variants with unknown clinical significance (7.47%). Compared with those under 35, the detection rate of fetal chromosomal aneuploidies for women with advanced age was higher under the indications of voluntary test, abnormal ultrasonic structures, abnormal ultrasonic soft index and risks indicated by non-invasive prenatal testing (NIPT). No significant difference was found in the detection rate of CNVs between those ≥35 and 0.05). 552 cases (98.22%) of pregnant women have completed the followed up. Among 31 women with pathological and possible pathogenic fetal CNVs detected by CMA, 25 had terminated the pregnancy, 6 (19.35%) have delivered without obvious abnormality. 41 pregnant women with fetal CNVs of unknown clinical significance have completed the follow up, among whom 3 had terminated the pregnancy, 1 newborn was found with malformation after birth, which yielded an abnormal pregnancy rate of 9.76%. 480 pregnant women with negative CMA results have completed the follow up, among whom 5 (1.04%) had abnormal pregnancy or delivered a child with birth defect.@*CONCLUSION@#There is a certain difference between the outcome of pregnancy predicted by CMA testing and the actual outcome. The pregnancies with fetal CNVs with unknown clinical significance detected by CMA have a high adverse rate, which should attract clinical attention. CMA testing should be recommended for pregnant women with advanced age regardless of whether they have other symptoms. CMA combined with other detection methods is the trend for prenatal diagnosis.


Subject(s)
Aneuploidy , Chromosome Aberrations , DNA Copy Number Variations , Female , Humans , Infant, Newborn , Maternal Age , Oligonucleotide Array Sequence Analysis , Pregnancy , Prenatal Diagnosis
6.
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
7.
Rev. colomb. obstet. ginecol ; 71(1): 56-62, Jan.-Mar. 2020.
Article in Spanish | LILACS | ID: biblio-1115620

ABSTRACT

RESUMEN Objetivos: reportar el caso de una paciente con síndrome de Turner en mosaico, a quien se le realizó un tratamiento de reproducción asistida con análisis genético preimplantatorio para aneuploidias, logrando el nacimiento de una niña sana con cariotipo normal, y realizar una revisión de la literatura sobre la utilidad del diagnóstico genético preimplantatorio en las mujeres con síndrome de Turner. Materiales y métodos: se presenta el caso de una mujer de 27 años, con diagnóstico de síndrome de Turner en mosaico y con alteración secundaria en la reserva ovárica, atendida en centro de referencia para el manejo de infertilidad en Medellín, Colombia, a quien se le realizó un tratamiento de fertilización in vitro con análisis genético preimplan-tatorio para prevenir la transmisión del síndrome de Turner a su descendencia. Se realizó una búsqueda de la literatura en las bases de datos Medline vía PubMed, Clinical Key, OVID, Embase, Lilacs, SciE- LO y Oxford Journals, con los siguientes términos: "Turner Syndrome", "Mosaic Turner", "Preim- plantation Genetic Screening", "Preimplantation Genetic Testing", "Preimplantation Genetic Diagnosis", "Pregnancy", "Successful pregnancy". Como criterios de inclusión se consideraron artículos tipo series y reportes de casos, cohortes y artículos de revisión desde enero de 1980 hasta junio de 2017, que incluyeran mujeres con síndrome de Turner embarazadas por medio de técnicas de fertilización in vitro, con sus propios óvulos, y que hubiesen sido sometidas a biopsia embrionaria para diagnóstico genético preimplantatorio. La búsqueda se limitó a los idiomas español e inglés. Resultados: un estudio cumplió con los criterios de inclusión. Tanto en este reporte como en nuestro caso, las pacientes con síndrome de Turner en mosaico se sometieron a varios ciclos de inyección intracitoplasmática de espermatozoides (ICSI) con sus propios óvulos, luego se realizó biopsia em- brionaria para análisis genético preimplantatorio utilizando diferentes técnicas. En ambos casos se logró la transferencia al útero de embriones euploides con el posterior nacimiento de niñas sanas con cariotipo normal. Conclusión: Las pacientes con ST mosaico podrían beneficiarse de la biopsia embrionaria y análisis genético preimplantatorio para prevenir la transmisión del defecto genético a su descendencia.


ABSTRACT Objectives: To report the case of a patient with mosaic Turner syndrome who underwent assisted reproduction treatment with preimplantation genetic testing for aneuploidy and gave birth to a healthy baby girl with normal karyotype; and to conduct a review of the literature on the usefulness of preimplantation genetic diagnosis in women with Turner syndrome. Materials and methods: A case of a 27 year-old woman diagnosed with mosaic Turner syndrome and secondary altered ovarian reserve, seen in a referral center for infertility management in Medellín, Colombia. The patient underwent in vitro fertilization followed by pre-implantation genetic testing to prevent transmission of Turner syndrome to her progeny. A literature search was conducted in the Medline via PubMed, Clinical Key, OVID, Embase, Lilacs, SciELO and Oxford Journals data- bases using the following terms: "Turner Syndrome," "Mosaic Turner," "Preimplantation Genetic Screening," "Preimplantation Genetic Testing," "Preimplantation Genetic Diagnosis," "Pregnancy," "Successful pregnancy." Inclusion criteria were case series and case reports, cohort studies and review articles published between January 1980 and June 2017 that included women with Turner syndrome achieving pregnancy by means of in vitro fertilization techniques with their own oocytes and who had undergone embryo biopsy for preimplantation genetic diagnosis. The search was limited to articles in Spanish and English. Results: one study met the inclusion criteria. Both in this report and in our case, patients with mosaic Turner syndrome underwent several cycles of intracytoplasmic sperm injection (ICSI) with their own eggs, then performed embryonic biopsy for preimplantation genetic analysis using different techniques. In both cases, euploid embryos were transferred to the uterus with the subsequent birth of healthy girls with normal karyotype. Conclusion: Patients with mosaic Turner syndrome could benefit from preimplantation biopsy and genetic analysis to prevent transmission of the genetic defect to their progeny.


Subject(s)
Humans , Female , Infant, Newborn , Turner Syndrome , Preimplantation Diagnosis , Ovarian Reserve , Aneuploidy
8.
J. Health Biol. Sci. (Online) ; 8(1): 1-3, 01/01/2020. ilus
Article in Portuguese | LILACS | ID: biblio-1104306

ABSTRACT

Introdução: A síndrome do miado do gato ou síndrome 5p é uma doença congênita rara causada por uma anormalidade cromossômica. Relato do caso: Apresentamos o caso de uma paciente de 13 anos com características dismórficas leves. O retardo mental era grave, com comportamento mal adaptativo e hiperatividade. O diagnóstico citogenético da anormalidade cromossômica 46 XX del 5pter-->p13 foi estabelecido. Conclusão: O diagnóstico precoce dessa doença é necessário para a qualidade de vida dos pacientes, mas esse diagnóstico é difícil de ser realizado em pacientes que foram vistos, pela primeira vez, em idade mais avançada.


Introduction: Cat cry syndrome or 5p- syndrome is a rare congenital disease caused by a chromosomal abnormality. Case report: The case of a thirteen-year-old female patient with mild dysmorphic features is presented. Mental retardation is severe, with maladaptive behavior and hyperactivity. The cytogenetic diagnosis of chromosomal abnormality karyotype 46 XX del 5pterp13 has been established. Conclusions: We concluded that early diagnosis of this disease is necessary for patients' quality of life, but this diagnosis is difficult to make in patients who were first seen at an older age.


Subject(s)
Cri-du-Chat Syndrome , Genetic Counseling , Aneuploidy
9.
Arq. neuropsiquiatr ; 77(12): 855-859, Dec. 2019. tab, graf
Article in English | LILACS | ID: biblio-1055198

ABSTRACT

ABSTRACT Alzheimer's disease (AD) has as its main characteristic the deterioration of cerebral functions. Its etiology is still complex and undefined despite the progress made in understanding its neurological, infectious, biochemical, genetic and cytogenetic mechanisms. Considering this, the aim of this study was to investigate the presence of chromosomal alterations in the peripheral blood lymphocytes, and to verify if there was a high frequency of these alterations in patients diagnosed with AD at the University Hospital GetúLio Vargas Outpatient Clinic Araújo Lima in Manaus, Amazonas, Brazil. Among the nine patients in the AD group, only one patient did not have metaphases with chromosomal alterations (2n = 46,XX), while eight patients with AD showed numerical chromosomal alterations, classified as X chromosome aneupLoidy (2n = 45,X) and double aneupLoidy (2n = 44,X,-X,-10; 2n = 44,X,-X,-13 and 2n = 44,X,-X,-21). In the control group, no chromosomal changes were found in the karyotypes of these individuals. Therefore, the karyotypes of patients with AD undergo chromosomal alterations at different levels. These findings are being described for the first time in the population of Amazonas, and they highlight the importance of the inclusion of cytogenetic investigations in the routine management of patients with AD.


RESUMO Doença de Alzheimer (DA) tem como principal característica a deterioração das funções cerebrais. Quanto a sua etiologia ainda é complexa e indefinida, apesar do progresso alcançado na compreensão de seus mecanismos neurológicos, infecciosos, bioquímicos, genéticos e citogenéticos. Considerando isto, nós investigamos a presença de alterações cromossômicas nos Linfócitos de sangue periférico e verificamos se há uma alta frequência dessas alterações em pacientes já diagnosticados com doença de Alzheimer no Hospital Universitário Getulio Vargas / Ambulatório Araújo Lima, Manaus / Amazonas / Brasil. Assim, dos 09 pacientes do grupo DA, somente 01 paciente não apresentou metáfases com alterações cromossômicas (2n = 46,XX) enquanto que 08 pacientes com DA apresentaram alterações cromossômicas numéricas, sendo classificadas como aneupLoidia do cromossomo X (2n = 45,X) e aneupLoidia dupLa (2n = 44,X,-X,-10; 2n = 44,X,-X,-13 e 2n = 44,X,-X,-21). No grupo controle, não foram encontradas aLterações cromossômicas nos cariótipos desses indivíduos. Estes achados para a popuLação do Amazonas/ BrasiL estão sendo descritos pela primeira vez. Os cariótipos de pacientes com DA sofrem aLterações cromossômicas em diferentes níveis e demonstraram a importância das investigações citogenéticas no manejo rotineiro de pacientes com DA.


Subject(s)
Humans , Male , Female , Middle Aged , Aged , Aged, 80 and over , Chromosome Aberrations , Alzheimer Disease/genetics , Brazil , Lymphocytes , Case-Control Studies , Cytogenetic Analysis , Chromosomes, Human, X/genetics , Abnormal Karyotype , Alzheimer Disease/psychology , Cognitive Dysfunction/psychology , Aneuploidy
11.
Article in Chinese | WPRIM | ID: wpr-771980

ABSTRACT

OBJECTIVE@#To determine the origin of supernumerary small marker chromosomes (sSMCs) carried by two fetuses.@*METHODS@#Single nucleotide polymorphism array (SNP-array) and fluorescence in situ hybridization (FISH) analysis were carried out on cells cultured from the amniotic fluid samples.@*RESULTS@#SNP-array analysis showed both fetuses to be arr[hg19]22q11.1q11.21(16 888 899-18 649 190)×4, with a duplicated 1.7 Mb region (16 888 899-18 649 190) leading to partial tetrasomy of 22q11.1-22q11.21. FISH confirmed that both fetuses were 47,XN,+mar.ish idic(22)(q11.2) (RP11-958H20 ++),which suggested a diagnosis of Cat-eye syndrome (CES). The appearance of abortuses were consistent with the diagnosis of CES.@*CONCLUSION@#Two fetuses with CES were diagnosed by genetic testing. The latter has provided a basis for genetic counseling.


Subject(s)
Aneuploidy , Chromosome Disorders , Diagnosis , Chromosomes, Human, Pair 22 , Eye Abnormalities , Diagnosis , Female , Fetus , Humans , In Situ Hybridization, Fluorescence , Karyotyping , Pregnancy , Prenatal Diagnosis
12.
Article in Chinese | WPRIM | ID: wpr-776765

ABSTRACT

OBJECTIVE@#To determine the frequency of chromosomal abnormalities and outcome of pregnancy for fetuses with increased nuchal translucency (NT).@*METHODS@#Between July 2014 and February 2018, 247 fetuses with increased NT (>95th centile)were analyzed by chromosome microarray analysis (CMA). The fetuses were divided into ones with isolated increased NT (168 cases), increased NT with cystic hygroma (20 cases), increased NT with edema (12 cases) or increased NT with other abnormalities (47 cases). All couples were followed up by telephone calls.@*RESULTS@#The rate of chromosomal abnormalities was 31.6% (78/247), which included 66 cases with chromosomal aneuploidies and 12 with copy number variants (CNVs). CNVs accounted for 31.4% (11/35) of total abnormalities among fetuses with isolated increased NT, whilst only 2.3% (1/43) of the total abnormalities among fetuses with non-isolated increased NT. Three fetuses with a normal CMA result had mental and physical retardation. Two of them were diagnosed with single gene disorders by whole exome sequencing.@*CONCLUSION@#CMA can detect more chromosomal microdeletion/microduplications among fetuses with isolated increased NT. Furthermore, fetuses with increased NT and anegative CMA result during pregnancy cannot exclude all adverse outcomes.


Subject(s)
Aneuploidy , Chromosome Aberrations , Chromosomes , DNA Copy Number Variations , Edema , Female , Fetus , Humans , Lymphangioma, Cystic , Microarray Analysis , Nuchal Translucency Measurement , Pregnancy , Pregnancy Outcome , Prenatal Diagnosis , Ultrasonography, Prenatal
13.
Article in Chinese | WPRIM | ID: wpr-776739

ABSTRACT

OBJECTIVE@#To assess the value of non-invasive prenatal testing (NIPT) for the identification of fetal chromosomal aneuploidies.@*METHODS@#For 9470 pregnant women with a moderate-to-high risk by conventional serological screening or advanced maternal age, peripheral venous blood samples were collected and, following extraction of free fetal DNA, subjected to large-scale parallel sequencing on a Illumina Hiseq2000 platform. Those with a high risk by NIPT were validated by invasive prenatal diagnosis.@*RESULTS@#Out of the 9470 samples, 194 cases (2.0%) were positive by NIPT testing. These included 50 trisomy 21, 11 trisomy 18, 17 trisomy 13, 44 other autosomal aneuploidies, 55 sex chromosomal aneuploidies, and 17 chromosomal copy number variations. As validated by amniotic fluid or umbilical blood chromosomal karyotyping analysis, NIPT has a false positive rate of 2.0%, 18.2%, 41.2%, 97.7%, 81.8%, 94.1%, respectively. The test has a sensitivity of 100% and a specificity of 98.79%.@*CONCLUSION@#For common chromosomal aneuploidies such as trisomy 21 and trisomy 18, NIPT has a good sensitivity and specificity, therefore has good value for clinical application.


Subject(s)
Aneuploidy , Chromosome Disorders , Diagnosis , DNA Copy Number Variations , Female , Humans , Pregnancy , Prenatal Diagnosis , Sensitivity and Specificity , Trisomy , Trisomy 18 Syndrome
14.
Article in Chinese | WPRIM | ID: wpr-776732

ABSTRACT

OBJECTIVE@#To report on a case of maternally derived 45,X mosaicism detected by non-invasive prenatal testing (NIPT).@*METHODS@#Fetal sex chromosomal abnormality was detected by NIPT. Maternally derived 45,X mosaicism was confirmed by chromosome karyotype analysis. Fetal sex chromosome aneuploidy was detected by amniotic fluid chromosome microarray analysis.@*RESULTS@#A maternal 45,X mosaicism was diagnosed. The fetus was confirmed to be normal.@*CONCLUSION@#Maternal 45,X masaicism can be diagnosed by NIPT.


Subject(s)
Aneuploidy , Female , Humans , Karyotyping , Mosaicism , Pregnancy , Prenatal Diagnosis , Sex Chromosome Aberrations
15.
Article in Chinese | WPRIM | ID: wpr-776016

ABSTRACT

The chromosomal aneuploidy in oocytes is one of main causes of abortion and neonatal birth defects.It is mainly due to the premature separation of sister chromatid caused by the loss of Cohesin protein complex and the non-disjunction sister chromatids caused by abnormal microtubule dynamics aneuploidy.As a pathway of protein post-translational modification,SUMO modification(or SUMOylation)involves many physiological regulation processes including cell proliferation,differentiation,apoptosis,and cycle regulation.In the oocytes,SUMOylation can regulate the localization of Cohesin protein complex on the chromosome to affect the chromosomal aneuploidy in oocytes caused by premature separation of sister chromatid.On the other hand,SUMOylation can regulate the microtubule dynamics to affect the chromosomal aneuploidy in oocytes caused by non-disjunction sister chromatids.Therefore,SUMOylation plays an important role in regulating the chromosomal aneuploidy of oocytes;the exact mechanisms via which the SUMOylated substrates affect aneuploidy in oocytes remain unclear.This articles reviews the roles of SUMOylation in premature separation and non-isolated chromatid aneuploidy in oocyte from the effects of SUMOylationon Cohesin protein complex and microtubule dynamics.


Subject(s)
Aneuploidy , Cell Cycle Proteins , Chromatids , Chromosomal Proteins, Non-Histone , Chromosome Segregation , Humans , Microtubules , Oocytes , Cell Biology , Sumoylation
16.
Article in English | WPRIM | ID: wpr-765003

ABSTRACT

BACKGROUND: Non-invasive prenatal testing (NIPT) using cell-free fetal DNA from maternal plasma for fetal aneuploidy identification is expanding worldwide. The objective of this study was to evaluate the clinical utility of NIPT for the detection of trisomies 21, 18, and 13 of high-risk fetus in a large Korean population. METHODS: This study was performed retrospectively, using stored maternal plasma from 1,055 pregnant women with singleton pregnancies who underwent invasive prenatal diagnosis because of a high-risk indication for chromosomal abnormalities. The NIPT results were confirmed by karyotype analysis. RESULTS: Among 1,055 cases, 108 cases of fetal aneuploidy, including trisomy 21 (n = 57), trisomy 18 (n = 42), and trisomy 13 (n = 9), were identified by NIPT. In this study, NIPT showed 100% sensitivity and 99.9% specificity for trisomy 21, and 92.9% sensitivity and 100% specificity for trisomy 18, and 100% sensitivity and 99.9% specificity for trisomy 13. The overall positive predictive value (PPV) was 98.1%. PPVs for trisomies 21, 18, and 13 ranged from 90.0% to 100%. CONCLUSION: This study demonstrates that our NIPT technology is reliable and accurate when applied to maternal DNA samples collected from pregnant women. Further large prospective studies are needed to adequately assess the performance of NIPT.


Subject(s)
Aneuploidy , Chromosome Aberrations , DNA , Down Syndrome , Female , Fetus , High-Throughput Nucleotide Sequencing , Humans , Karyotype , Plasma , Pregnancy , Pregnant Women , Prenatal Diagnosis , Prospective Studies , Retrospective Studies , Sensitivity and Specificity , Trisomy
17.
Article in English | WPRIM | ID: wpr-763513

ABSTRACT

Klinefelter syndrome (KS) is characterized by small testes, gynecomastia, tall stature, and hypergonadotropic hypogonadism. This condition is associated with extra X chromosomes. It is well known that these aneuploidies predispose individuals to the development of several cancers. Moreover, there are many case reports that show KS patients to have a higher relative risk for the development of malignancy. However, incracranial germ cell tumor (ICGCT) associated with KS is very uncommon. Herein, we report delayed diagnosis of KS in a 15-year-old boy with ICGCT, embryonal carcinoma of the pineal gland, after multimodality treatment in Korea.


Subject(s)
Adolescent , Aneuploidy , Carcinoma, Embryonal , Delayed Diagnosis , Gynecomastia , Humans , Hypogonadism , Klinefelter Syndrome , Korea , Male , Neoplasms, Germ Cell and Embryonal , Pineal Gland , Testis , X Chromosome
18.
Article in English | WPRIM | ID: wpr-763348

ABSTRACT

OBJECTIVE: As paternal age increases, the quality of sperm decreases due to increased DNA fragmentation and aneuploidy. Higher levels of structural chromosomal aberrations in the gametes ultimately decrease both the morphologic quality of embryos and the pregnancy rate. In this study, we investigated whether paternal age affected the euploidy rate. METHODS: This study was performed using the medical records of patients who underwent in vitro fertilization (IVF) procedures with preimplantation genetic screening (PGS) from January 2016 to August 2017 at a single center. Based on their morphological grade, embryos were categorized as good- or poor-quality blastocysts. The effects of paternal age were elucidated by adjusting for maternal age. RESULTS: Among the 571 total blastocysts, 219 euploid blastocysts were analyzed by PGS (38.4%). When the study population was divided into four groups according to both maternal and paternal age, significant differences were only noted between groups that differed by maternal age (group 1 vs. 3, p=0.031; group 2 vs. 4, p=0.027). Further analysis revealed no significant differences in the euploidy rate among the groups according to the morphological grade of the embryos. CONCLUSION: Paternal age did not have a significant impact on euploidy rates when PGS was performed. An additional study with a larger sample size is needed to clarify the effects of advanced paternal age on IVF outcomes.


Subject(s)
Aneuploidy , Blastocyst , Chromosome Aberrations , DNA Fragmentation , Embryonic Development , Embryonic Structures , Female , Fertilization in Vitro , Genetic Testing , Germ Cells , Humans , In Vitro Techniques , Maternal Age , Medical Records , Paternal Age , Pregnancy , Pregnancy Rate , Sample Size , Spermatozoa
19.
Article in Chinese | WPRIM | ID: wpr-819034

ABSTRACT

OBJECTIVE@#To analyze the results of noninvasive prenatal screening (NIPS) for fetal chromosome aneuploidy in twin pregnancy.@*METHODS@#A total of 2057 women with twin-pregnancy between 12-26 weeks were recruited from Women's Hospital, Zhejiang University School of Medicine, Hangzhou Municipal Women's Hospital and Jiaxing Maternal and Child Health Hospital during February 2015 to August 2018. The cell-free DNA was extracted from the peripheral blood sample for DNA library, and non-invasive prenatal testing (NIPT) was performed by high-throughput sequencing technique. The fetal karyotype analysis or neonatal karyotype analysis was performed in pregnant women with fetal chromosome aneuploidy, and all subjects were followed up. The efficiency of NIPS testing for twin aneuploidy was calculated.@*RESULTS@#NIPS revealed chromosome abnormalities in 11 out of 2057 twin pregnant women, 9 cases were confirmed chromosome abnormalities, 2 cases were normal and no false negative cases. In this screening, the detection rate, sensitivity, specificity, positive predictive value, false positive rate of NIPS were 100.00%, 100.00%, 99.90%, 81.82%, 0.10%. Those were 100.00%, 100.00%, 99.95%, 87.50% and 0.05% for trisomy 21, 100.00%, 100.00%, 100.00%, 100.00%, 0.00% for trisomy18, and the specificity and false positive rate for trisomy13 were 99.95% and 0.05%, respectively.@*CONCLUSIONS@#NIPS can detect fetal chromosomal aneuploidy rapidly and accurately in twin pregnancies,and it is of value in clinical application.


Subject(s)
Aneuploidy , Female , Humans , Noninvasive Prenatal Testing , Reference Standards , Pregnancy , Pregnancy, Twin , Prenatal Diagnosis , Methods , Reproducibility of Results , Trisomy
20.
Article in Chinese | WPRIM | ID: wpr-775823

ABSTRACT

OBJECTIVE@#To explore the clinical phenotype, genetic variant, treatment and prognosis of a child with mosaic variegated aneuploidy syndrome (MVAS).@*METHODS@#Immunological marker screening, chromosomal karyotyping and whole exome sequencing were carried out.@*RESULTS@#The 1-year-11-month old girl has featured severe growth retardation, feeding difficulty, short stature, microcephaly, facial anomalies, scoliosis, visual impairment, hypotonia, chylothorax, and renal lesions. Karyotype analysis of peripheral blood lymphocytes has discovered variegated aneuploidy cells (6/11). DNA sequencing has identified compound heterozygous c.826delG (p.Asp276Metfs*21) and c.2441G>A (p.Arg814His) variants in the BUB1B gene, which were inherited from her father and mother, respectively.@*CONCLUSION@#The compound heterozygous variants of the BUB1B gene probably underlie the pathogenesis in this patient.


Subject(s)
Aneuploidy , Chromosome Disorders , Diagnosis , Genetics , DNA Mutational Analysis , Female , Genetic Testing , Humans , Infant , Mosaicism
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