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1.
Chinese Journal of Medical Genetics ; (6): 14-19, 2024.
Article in Chinese | WPRIM | ID: wpr-1009346

ABSTRACT

OBJECTIVE@#To evaluate the feasibility of non-invasive prenatal testing (NIPT) for the screening of fetal chromosome aneuploidies in twin pregnancies.@*METHODS@#A total of 2 745 women with twin-pregnancies were subjected for NIPT screening. Chromosomal karyotyping and chromosomal microarray analysis (CMA) were carried out on amniotic fluid samples from those with a high risk for fetal chromosome aneuploidies, and the diagnosis and pregnancy outcome were followed up. The sensitivity, specificity, positive predictive value and false positive rate of the NIPT were calculated.@*RESULTS@#Compared with other chromosomal abnormalities, NIPT had a higher efficacy for trisomy 21 and sex chromosomal aneuploidy (SCA) in twin pregnancies (with sensitivity being 100%, 100%, and specificity being 99.93%, 99.9%, respectively). It is difficult to evaluate the efficacy for trisomies 18 and 13 due to the limited data. For chromosome microdeletions and microduplications spanning 15 ~ 21 Mb, NIPT also had a certain detection rate. Compared with women with natural conception, NIPT had a higher detection rate for those with twin pregnancies by assisted reproduction (P < 0.05).@*CONCLUSION@#It is feasible to use NIPT for the detection of chromosome aneuploidies in women with twin pregnancies.


Subject(s)
Pregnancy , Female , Humans , Pregnancy, Twin , Prenatal Diagnosis , Down Syndrome/genetics , Chromosome Aberrations , Aneuploidy , Trisomy 18 Syndrome/genetics , Trisomy
2.
Chinese Journal of Medical Genetics ; (6): 8-13, 2024.
Article in Chinese | WPRIM | ID: wpr-1009345

ABSTRACT

OBJECTIVE@#To explore the cause of inconsistency between the results of trisomy 7 by expanded non-invasive prenatal testing (NIPT-PLUS) and trisomy 18 by prenatal diagnosis.@*METHODS@#A pregnant woman who received genetic counseling at Jiaozuo Maternal and Child Health Care Hospital on July 5, 2020 was selected as the study subject. NIPT-PLUS, systematic ultrasound and interventional prenatal testing were carried out. The middle segment and root of umbilical cord, center and edge of the maternal and fatal surface of the placenta were sampled for the validation by copy number variation sequencing (CNV-seq).@*RESULTS@#The result of NIPT-PLUS indicated that the fetus has trisomy 7. Systematic ultrasound has shown multiple malformations including atrioventricular septal defect, horseshoe kidney, and rocker-bottom feet. However, QF-PCR, chromosomal karyotyping analysis, and CNV-seq of amniotic fluid samples all showed that the fetus was trisomy 18. Validation using multiple placental samples confirmed that the middle segment of the umbilical cord contains trisomy 18, the center of the placenta contained trisomy 7, and other placental sites were mosaicism for trisomy 7 and trisomy 18. Notably, the ratio of trisomy 18 became lower further away from the umbilical cord.@*CONCLUSION@#The false positive results of trisomy 7 and false negative trisomy 18 by NIPT-PLUS was probably due to the existence of placental mosaicism. Strict prenatal diagnosis is required needed aneuploidy is detected by NIPT-PLUS to exclude the influence of placental mosaicisms.


Subject(s)
Child , Pregnancy , Female , Humans , Trisomy/genetics , Trisomy 18 Syndrome/genetics , Placenta , DNA Copy Number Variations , Prenatal Diagnosis/methods , Chromosome Disorders/genetics , Aneuploidy
3.
Chinese Journal of Medical Genetics ; (6): 1-7, 2024.
Article in Chinese | WPRIM | ID: wpr-1009344

ABSTRACT

OBJECTIVE@#To analyze the results of prenatal diagnosis and outcome of pregnancy for women with a high risk for fetal aneuploidies.@*METHODS@#A total of 747 cases of prenatal diagnosis by amniocentesis due to high risks by non-invasive prenatal testing (NIPT) were selected from January 2015 to March 2022 in the Drum Tower Hospital Affiliated to Nanjing University Medical School. The amniotic fluid samples were subjected to chromosomal karyotyping and/or chromosomal microarray analysis. All cases were followed up by searching the birth information or telephone calls, and the results were recorded. 2 test or F test were used for comparing the difference between the groups.@*RESULTS@#Among the 747 pregnant women with a high risk by NIPT, 387 were true positives, and the overall positive predictive value (PPV) was 51.81%. The PPVs for trisomy 21 (T21), trisomy 18 (T18), trisomy 13 (T13) and sex chromosome aneuploidies (SCA) were 80.24% (199/248), 60% (48/80), 14% (7/50) and 38.97% (106/272), respectively. The PPV for T21 was significantly higher than T18 and T13 (χ2 = 85.216, P < 0.0001). The PPV for other chromosomal aneuploidies and copy number variations (CNVs) were 11.11% (5/45) and 40.74% (22/52), respectively. The PPV for increased X chromosomes was significantly higher than X chromosome decreases (64.29% vs. 22.22%, χ2 = 5.530, P < 0.05). The overall PPV for elder women (≥ 35 years old) was significantly higher than younger women (69.35% vs. 42.39%, χ2 = 49.440, P < 0.0001). For T21 and T18, the PPV of Z ≥ 10 group was significantly higher than that for 3 ≤ Z < 5 group or 5 ≤ Z < 10 group (P < 0.05). Among 52 cases with a high risk for CNVs, the PPV for the ≤ 5 Mb group was significantly higher than the 5 Mb < CNVs < 10 Mb or > 10 Mb groups (60% vs. 30%60% vs. 23.53%, P < 0.05). Among the 387 true positive cases, 322 had opted for induced labor, 53 had delivered with no abnormal growth and development, and 12 were lost during the follow-up.@*CONCLUSION@#The PPVs for common chromosomal aneuploidies are related to the age and Z value of the pregnant women, which were higher in the elder group and higher Z value group. In addition, the PPV is associated with high risk types. The PPV for T21 was higher than T18 and T13, and that for 45,X was lower than 47,XXX, 47,XYY or 47,XXY syndrome. NIPT therefore has relatively high PPVs for the identification of chromosomal CNVs.


Subject(s)
Female , Pregnancy , Humans , Aged , Adult , DNA Copy Number Variations , Prenatal Diagnosis/methods , Down Syndrome/genetics , Aneuploidy , Trisomy 18 Syndrome/genetics , Trisomy 13 Syndrome/diagnosis , DNA , Trisomy/genetics
4.
Chinese Journal of Medical Genetics ; (6): 513-518, 2023.
Article in Chinese | WPRIM | ID: wpr-981780

ABSTRACT

OBJECTIVE@#To analyze the result of prenatal diagnosis and outcome of pregnancy for fetuses with rare autosomal trisomies (RATs) suggested by non-invasive prenatal testing (NIPT).@*METHODS@#A total of 69 608 pregnant women who underwent NIPT at Genetics and Prenatal Diagnosis Center of the First Affiliated Hospital of Zhengzhou University from January 2016 to December 2020 were selected as study subjects. The result of prenatal diagnosis and outcome of pregnancy for those with a high risk for RATs were retrospectively analyzed.@*RESULTS@#Among the 69 608 pregnant women, the positive rate of NIPT for high-risk RATs was 0.23% (161/69 608), with trisomy 7 (17.4%, 28/161) and trisomy 8 (12.4%, 20/161) being the most common, and trisomy 17 (0.6%, 1/161) being the rarest. For 98 women who had accepted invasive prenatal diagnosis, 12 fetal chromosomal abnormalities were confirmed, and in 5 cases the results were consistent with those of NIPT, which yielded a positive predictive value of 5.26%. Among the 161 women with a high risk for RATs, 153 (95%) were successfully followed up. 139 fetuses were ultimately born, with only one being clinically abnormal.@*CONCLUSION@#Most women with a high risk for RATs by NIPT have good pregnancy outcomes. Invasive prenatal diagnosis or serial ultrasonography to monitor fetal growth, instead of direct termination of pregnancy, is recommended.


Subject(s)
Pregnancy , Female , Humans , Trisomy/genetics , Pregnancy Outcome , Retrospective Studies , Prenatal Diagnosis/methods , Fetus , Trisomy 18 Syndrome/genetics , Aneuploidy
5.
Chinese Journal of Medical Genetics ; (6): 933-938, 2023.
Article in Chinese | WPRIM | ID: wpr-1009237

ABSTRACT

OBJECTIVE@#To assess the value of non-invasive prenatal testing (NIPT) for trisomy 21 (T21), trisomy 18 (T18), trisomy 13 (T13), sex chromosome aneuploidies, chromosomal microdeletions and microduplications using cell-free fetal DNA from peripheral blood samples of pregnant women.@*METHODS@#A total of 15 237 pregnant women who had undergone NIPT testing at the Maternity and Child Health Care Hospital of Zaozhuang from February 2015 to December 2021 were enrolled in this study. For those with a high risk by NIPT, amniotic fluid samples were collected for G-banding chromosomal karyotyping analysis and chromosomal microarray analysis to verify the consistency of NIPT with results of prenatal diagnosis. All of the women were followed up by telephone for pregnancy outcomes.@*RESULTS@#Among the 15 237 pregnant women, 266 (1.75%) were detected with a high risk for fetal chromosomal abnormality were detected. Among these, 79 (29.7%) were at a high risk for T21, 26 (9.77%) were at a high risk for T18, 9 (3.38%) were at a high risk for T13, 74 (27.82%) were at a high risk for sex chromosome aneuploidies, 12 (4.51%) were at a high risk for other autosomal aneuploidies, and 66 (24.81%) were at a high risk for chromosomal microdeletions or microduplications. 217 women had accepted invasive prenatal diagnosis and respectively 50, 13, 1, 25, 1 and 18 were confirmed with T21, T18, T13, sex chromosome aneuploidies, autosomal aneuploidies and microdeletions/microduplications, and the positive predictive values were 75.76%, 68.42%, 11.11%, 40.32%, 10% and 35.29%, respectively. For 13 042 women (85.59%), the outcome of pregnancy were successfully followed up. During the follow-up, one false negative case of T21 was discovered. No false positive cases for T13 and T18 were found.@*CONCLUSION@#NIPT has a sound performance for screening T13, T18 and T21, and is also valuable for screening other autosomal aneuploidies, sex chromosome aneuploidies and chromosomal microdeletions/microduplications.


Subject(s)
Child , Female , Pregnancy , Humans , Retrospective Studies , Cell-Free Nucleic Acids , Chromosome Disorders/genetics , Prenatal Diagnosis/methods , Down Syndrome/genetics , Sex Chromosome Aberrations , Trisomy 18 Syndrome/genetics , Trisomy 13 Syndrome/diagnosis , Aneuploidy , DNA/genetics , Trisomy/genetics
6.
Chinese Journal of Medical Genetics ; (6): 135-142, 2023.
Article in Chinese | WPRIM | ID: wpr-970893

ABSTRACT

OBJECTIVE@#To assess the clinical efficacy and health economic value of non-invasive prenatal testing (NIPT) for the prenatal screening of common fetal chromosomal aneuploidies.@*METHODS@#10 612 pregnant women from October 2017 to December 2019 presented at the antenatal screening clinic of the General Hospital of Tianjin Medical University were selected as the study subjects. Results of NIPT and invasive prenatal diagnosis and follow-up outcome for the 10 612 pregnant women were retrospectively analyzed and compared. Meanwhile, NIPT data for two periods were analyzed for assessing the health economic value of NIPT as the second- or first-tier screening strategy for the prenatal diagnosis of fetal trisomies 21, 18 and 13.@*RESULTS@#The NIPT was successful in 10 528 (99.72%) subjects, with the sensitivity for fetal trisomies 21, 18 and 13 being 100%, 92.86% and 100%, and the positive predictive value (PPV) being 89.74%, 61.90% and 44.44%, respectively. The PPV of NIPT for sex chromosome aneuploidies was 34.21%. Except for one false negative case of trisomy 18, the negative predictive value for trisomy 21, trisomy 13 and other chromosomal abnormalities were 100%. For pregnant women with high risk by serological screening, advanced maternal age or abnormal ultrasound soft markers, NIPT has yielded a significantly increased high risk ratio. There was no statistical difference in the PPV of NIPT among pregnant women from each subgroup. NIPT would have higher health economic value as a second-tier screening until 2019, while compared to 2015 ~ 2017, its incremental cost-effectiveness ratio as a first-tier screening had declined clearly.@*CONCLUSION@#The screening efficacy of NIPT for trisomies 21, 18 and 13 for a mixed population is significantly better than conventional serological screening, but it is relatively low for sex chromosomal abnormalities. NIPT can also be recommended for populations with relatively high risks along with detailed pre- and post-test genetic counselling. From the perspective of health economics, except for open neural tube defects, it is possible for NIPT to replace the conventional serological screening in the future as its cost continues to decrease.


Subject(s)
Pregnancy , Female , Humans , Trisomy/genetics , Retrospective Studies , Prenatal Diagnosis/methods , Down Syndrome/genetics , Aneuploidy , Chromosome Aberrations , Trisomy 18 Syndrome/genetics , Sex Chromosome Aberrations , Fetus
7.
Chinese Journal of Medical Genetics ; (6): 257-263, 2022.
Article in Chinese | WPRIM | ID: wpr-928398

ABSTRACT

OBJECTIVE@#To assess the practical and health economical values of non-invasive prenatal test (NIPT) in Changsha Municipal Public Welfare Program.@*METHODS@#A retrospective analysis was carried out on 149 165 women undergoing NIPT test from April 9, 2018 to December 31, 2019. For pregnant women with high risks, invasive prenatal diagnosis and follow-up of pregnancy outcome were conducted. The cost-benefit of NIPT for Down syndrome was analyzed.@*RESULTS@#NIPT was carried out for 149 165 pregnant women and succeeded in 148 749 cases (99.72%), for which outcome were available in 148 538 (99.86%). 90% of pregnant women from the region accepted the screening with NIPT. 415 (0.27%) were diagnosed as high risk. Among these, 381 (91.81%) accepted amniocentesis, which led to the diagnosis of 212 cases of trisomy 21 (PPV=85.14%), 41 cases with trisomy 18 (PPV=48.81%) and 10 cases with trisomy 13 (PPV=20.83%). The sensitivity and specificity of NIPT for trisomy 21, trisomy 18 and trisomy 13 were (97.70%, 99.98%), (97.62%, 9.97%) and (100%, 99.97%), respectively. In addition, 213 and 30 cases were diagnosed with sex chromosomal aneuploidies (PPV=46.2%) and other autosomal anomalies (PPV=16.57%), respectively. For Down syndrome screening, the cost and benefit of the project was 120.79 million yuan and 1,056.95 million yuan, respectively. The cost-benefit ratio was 1: 8.75, and safety index was 0.0035.@*CONCLUSION@#NIPT is a highly accurate screening test for trisomy 21, which was followed by trisomy 18 and sex chromosomal aneuploidies, while it was less accurate for other autosomal aneuploidies. The application of NIPT screening has a high health economical value.


Subject(s)
Female , Humans , Pregnancy , Aneuploidy , Cost-Benefit Analysis , Noninvasive Prenatal Testing , Retrospective Studies , Trisomy 18 Syndrome/genetics
8.
Rev. Assoc. Méd. Rio Gd. do Sul ; 65(3): 01022105, Jul-Set 2021.
Article in Portuguese | LILACS | ID: biblio-1373517

ABSTRACT

RESUMO Introdução: A Síndrome de Edwards, é a segunda alteração genética mais comum no recém-nascido, caracteriza-se por apresentar três cromossomos no par 18. Essa trissomia com baixa expectativa de vida, apresenta diversas malformações, principalmente alterações cardíacas, ortopédicas, neurológicas e pulmonares, afetando principalmente fetos do sexo feminino. Objetivo: Descrever um caso clínico de uma criança com Síndrome de Edwards com elevada sobrevida, 7 anos, uma exceção ao que é descrito na literatura. Relato de caso: Paciente feminina, 7 anos de idade, que nasceu com Síndrome de Edwards, diagnosticada no pré-natal. A gestação foi sem intercorrência e a criança nasceu a termo apresentando cardiopatias congênitas, como dupla via de saída do ventrículo direito, comunicação interventricular, permanência do canal arterial e estenose pulmonar. Apresenta também disfunção cerebral e alterações esqueléticas. Faz acompanhamento multidisciplinar com fonoaudióloga e fisioterapeuta duas vezes por semana e periodicamente com pediatra e neurologista. Conclusão: Por se tratar de um caso raro e pouco documentado na literatura a existência de crianças com mais de 7 anos de idade, como nesse caso, mostra que é possível superar a expectativa de vida documentada na literatura. Alguns fatores, como ter o diagnóstico no período pré-natal, não ter apresentado intercorrências na gestação, ter nascido a termo, apresentar cardiopatias congênitas que se compensam, somando-se a cuidados multiprofissionais semanalmente, podem ter contribuído para que esta criança tenha conseguido viver até os 7 anos. PALAVRA-CHAVE: Trissomia, síndrome da trissomia do cromossomo 18, sobrevida


ABSTRACT Introduction: Edwards Syndrome, the second most common genetic alteration in newborns, is characterized by having three chromosomes in pair 18. This trisomy with low life expectancy, presents several malformations, mainly cardiac, orthopedic, neurological and mainly affecting female fetuses. Objective: To describe a clinical case of a child with Edwards Syndrome with high survival, 7 years, an exception to what is described in the literature. Case report: Female patient, 7 years old, who was born with Edwards Syndrome, diagnosed prenatally. The pregnancy was uneventful and the child was born at term with congenital heart disease, such as right ventricular double outlet, ventricular septal defect, permanence of the ductus arteriosus, and pulmonary stenosis. She also presents brain dysfunction and skeletal changes. She undergoes multidisciplinary follow-up with a speech therapist and physiotherapist twice a week and periodically with a pediatrician and neurologist. Conclusion: As this is a rare case and the existence of children over 7 years of age, as in this case, is little documented in the literature, it shows that it is possible to exceed the life expectancy documented in the literature. Some factors, such as having the diagnosis in the prenatal period, not having had complications during pregnancy, being born at term, having congenital heart diseases that compensate, adding to weekly multiprofessional care, may have contributed to this child having managed to live up to 7 years old. KEYWORDS: Trisomy, trisomy 18 syndrome, survival


Subject(s)
Humans , Survival , Trisomy , Trisomy 18 Syndrome
9.
Rev. chil. obstet. ginecol. (En línea) ; 86(1): 23-32, feb. 2021. tab
Article in Spanish | LILACS | ID: biblio-1388627

ABSTRACT

OBJETIVO: Analizar si los casos positivos de cribado combinado de trisomía 21 (t21) o trisomía 18 (t18) en ausencia de aneuploidía (falsos positivos- FP) se relacionan con complicaciones de la gestación, ajustando por factores demográficos y clínicos de riesgo. MATERIAL Y MÉTODOS: Estudio retrospectivo de casos y controles anidado en una cohorte de pacientes que acudieron para cribado del primer trimestre. Los casos fueron las pacientes con FP de riesgo combinado de t21 superior a 1/270 o riesgo de t18 superior a 1/100. Se consideraron complicaciones de la gestación: óbito fetal, parto prematuro menor de 34 semanas o prematuro menor de 37 semanas, preeclampsia, retrasos de crecimiento, pequeño para la edad gestacional (CIR, PEG) y diabetes gestacional (DG). Se ajustó por obesidad, edad, paridad, tabaquismo, y técnicas de reproducción asistida. RESULTADO: Se obtuvieron 204 casos de FP, 149 FP para trisomía 21, 41 para trisomía 18, y 14 FP para ambos riesgos. Se encontró asociación estadísticamente significativa de FP t21 con óbito fetal (OR=3,5; ic95% 1,4-8,7; p=0,01), parto prematuro menor de 37 semanas (OR=2,2; IC95% 1,4-3,4; p=0,001), preeclampsia (OR =2,6; IC95% 1,17-6,1; p=0,02), PEG (OR =2,2; IC95% 1,2-4,1; p=0,02), CIR (OR=2,8; IC95% 1,6-5,1; p=0,001), y DG (OR=2,1; IC95% 1,2-3,7; p=0,01). Los FP t18 se asociaron con óbito (OR=8,9; IC95% 2,9-27; p=0,002). CONCLUSIÓN: Los FP del cribado del primer trimestre, para trisomía 21 y trisomía 18, se asocian con resultados obstétricos adversos.


We have studied whether positive cases of combined trisomy 21 (t21) or 18 (t18) screening in the absence of aneuploidy (false positives -FP-) are related to pregnancy complications adjusting for demographic and clinical risk factors. METHODS: Retrospective case-control study nested in a cohort of patients who came for first trimester aneuploidy screening. The cases were patients with FP combined risk of t21 (greater than 1/270) or t18 risk (greater than 1/100). The control group was a sample of patients with low-risk screening. We considered pregnancy complications: stillbirth, premature delivery before 34 and 37 weeks, preeclampsia, growth retardation, small for gestational age (FGR, SGA), and gestational diabetes (GD). Or were adjusted for obesity, age, parity, smoking, and assisted reproduction techniques. RESULTS: 204 cases of FP were obtained, 149 FP for trisomy 21, 41 for trisomy 18, and 14 FP for both risks. A statistically significant association between t21 FP was found with stillbirth (OR = 3.5; 95% CI 1.4-8.7; p = 0.01), preterm delivery less than 37 weeks (OR = 2.2; 95% CI 1.4-3.4; p = 0.001), preeclampsia (OR = 2.6; 95% CI 1.17-6.1; p = 0.02), SGA (OR = 2.2; 95% CI 1, 2-4.1; p = 0.02), FGR (OR = 2.8; 95% CI 1.6-5.1; p = 0.001), and GD (OR = 2.1; 95% CI 1.2 −3.7; p = 0.01). FP t18s were associated with fetal loss (OR= 8.9 (95% CI 2.9-27) p = 0.002. CONCLUSION: FP from first trimester screening for t21 and t18 are associated with adverse obstetric outcomes.


Subject(s)
Humans , Female , Pregnancy , Down Syndrome/diagnosis , Trisomy 18 Syndrome/diagnosis , Pregnancy Complications/diagnosis , Pregnancy Complications/epidemiology , Pregnancy Trimester, First , Trisomy/diagnosis , Case-Control Studies , Mass Screening , Predictive Value of Tests , Risk Factors , Down Syndrome/epidemiology , False Positive Reactions , Trisomy 18 Syndrome/epidemiology
10.
Chinese Journal of Medical Genetics ; (6): 1171-1175, 2021.
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)
Child , Female , Humans , Pregnancy , Aneuploidy , High-Throughput Nucleotide Sequencing , Noninvasive Prenatal Testing , Prenatal Diagnosis , Trisomy , Trisomy 18 Syndrome/genetics
11.
Chinese Journal of Medical Genetics ; (6): 1045-1050, 2021.
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)
Female , Humans , Pregnancy , Aneuploidy , Chromosome Disorders/genetics , Chromosomes , DNA Copy Number Variations , Down Syndrome/genetics , Prenatal Diagnosis , Trisomy/genetics , Trisomy 18 Syndrome/genetics
12.
Chinese Journal of Medical Genetics ; (6): 895-899, 2021.
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)
Female , Humans , Pregnancy , Aneuploidy , Pregnant Women , Prenatal Diagnosis , Trisomy , Trisomy 13 Syndrome , Trisomy 18 Syndrome
13.
Chinese Journal of Medical Genetics ; (6): 541-544, 2021.
Article in Chinese | WPRIM | ID: wpr-879621

ABSTRACT

OBJECTIVE@#To explore the value of chromosomal microarray analysis (CMA) for the diagnosis of fetuses with high risk signaled by non-invasive prenatal testing (NIPT).@*METHODS@#From June 2017 to August 2019, 628 pregnant women with high risk signaled by NIPT underwent invasive prenatal diagnosis. Amniotic fluid or cord blood samples were subjected to chromosomal karyotyping analysis or CMA. Pregnancy outcome and postnatal conditions of the fetuses were followed up.@*RESULTS@#The positive predictive value for trisomy 21, trisomy 18, trisomy 13, sex chromosome aneuploidy, other rare trisomies and copy number variants (CNVs) among the 628 women were 86.4% (127/147), 41.7% (30/72), 12.9% (4/31), 43.7% (101/231), 16.5% (14/85) and 52.2% (35/67), respectively. In 218 samples with normal karyotype, 5.5% (12/218) of additional pathogenic CNVs and 2.3% (5/218) of loss of heterozygosity were detected by CMA.@*CONCLUSION@#CMA combined with karyotyping analysis can be used as first-tier test for prenatal diagnosis for women with high-risk signaled by NIPT.


Subject(s)
Female , Humans , Pregnancy , Karyotyping , Microarray Analysis , Prenatal Diagnosis , Trisomy 13 Syndrome/genetics , Trisomy 18 Syndrome
14.
Chinese Journal of Medical Genetics ; (6): 313-316, 2021.
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)
Female , Humans , Infant, Newborn , Pregnancy , Aneuploidy , Chromosome Disorders , Pregnancy, Twin , Prenatal Diagnosis , Trisomy , Trisomy 13 Syndrome , Trisomy 18 Syndrome
15.
Chinese Journal of Medical Genetics ; (6): 309-312, 2021.
Article in Chinese | WPRIM | ID: wpr-879574

ABSTRACT

OBJECTIVE@#To evaluate the efficacy of non-invasive prenatal testing (NIPT) in the prenatal screening and its role in the system of prenatal diagnosis.@*METHODS@#A total of 22 649 singleton pregnant women who were registered and finally delivered or had induced labor at Beijing Obstetrics and Gynecology Hospital of Capital Medical University were enrolled. The routes of prenatal screening were analyzed to evaluate the efficacy of prenatal screening. Meanwhile, 9268 pregnant women who underwent invasive prenatal diagnosis procedure were enrolled. The indications and results of prenatal diagnosis were analyzed to evaluate the effectiveness of prenatal screening.@*RESULTS@#60.24% of singleton pregnant women have opted for Down syndrome screening, and their age was mainly under 35. The proportion of women opted for NIPT was 34.74%, and were mainly between 35 and 39. The overall diagnostic rate of trisomy 21, 18 and 13 trisomy for those with high risk by NIPT was 0.89%, which yielded a positive predictive value of 75.71%. For those with moderate risk by serum screening, 0.30% was predicted with a high risk by NIPT. Among women undergoing prenatal diagnosis, 63.04% and 21.22% had the indication of advanced age or high risk by serum screening, and the positive predictive values were 5.1% and 5.13%, respectively. By contrast, 2.30% of women undergoing prenatal diagnosis had a high risk by NIPT, which yielded a positive predictive value of 54.46%.@*CONCLUSION@#With the change of the age composition of pregnant women and increase in the complexity of pregnancy in China, to build a prenatal screening system based on NIPT will be helpful to improve the efficiency of the current system of prenatal screening and diagnosis.


Subject(s)
Female , Humans , Pregnancy , China , Down Syndrome/genetics , Prenatal Diagnosis , Trisomy 13 Syndrome , Trisomy 18 Syndrome
16.
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
17.
Rev. méd. hondur ; 88(1): 43-46, ene.- jun. 2020. tab, ilus
Article in Spanish | LILACS | ID: biblio-1128556

ABSTRACT

Antecedentes: El Síndrome de Edwards o trisomía 18, es una anomalía cromosómica o aneuploidía caracterizada por la presencia de una copia adicional del cromosoma 18. Se asocia con una alta tasa de mortalidad, siendo muy escasas las probabilidades de supervivencia más allá de las semanas o del año de edad. Sin embargo, existen casos que llegan a sobrevivir más tiempo, pero con retraso mental severo, problemas de salud y de desarrollo, y por ende una calidad de vida muy baja. En este artículo se informa un caso de trisomía 18 de larga sobrevida con el propósito de aportar información sobre la etiología, el fenotipo, la sobrevida y el consejo genético. Descripción de Caso: Paciente de sexo femenino nacida en 2010 con un cariotipo realizado en 20 células que mostraron 47,XX+18 en todas las metafases. Con talla y peso bajos para su edad, facies dismórficas, retardo severo del desarrollo psicomotor y cognitivo, imposibilidad para alimentarse, ausencia de lenguaje verbal y sordera neurosensorial. Conclusión: El conocimiento de las manifestaciones clínicas y el pronóstico del paciente con trisomía 18 es de gran importancia para el cuidado neonatal y la toma de decisiones para realizar procedimientos invasivos, como cirugía de corazón o resucitación cardiopulmonar. El diagnóstico temprano es importante para la toma de decisiones médicas...(AU)


Subject(s)
Humans , Female , Child , Chromosome Aberrations , Trisomy 18 Syndrome/diagnosis , Genetic Counseling , Intellectual Disability
18.
Medwave ; 20(8): e8015, 2020.
Article in English, Spanish | LILACS | ID: biblio-1128224

ABSTRACT

El síndrome de Edwards o trisomía 18 es una entidad compleja, con afectaciones en los sistemas musculoesquelético, craneofacial, cardiovascular y neurológico. Su genética es variada, presentándose tanto de manera completa como en mosaicismo. Es infrecuente que la supervivencia supere el primer año de vida. Su caracterización fenotípica no es patognomónica, por lo cual el cariotipo es fundamental para el diagnóstico prenatal por medio de amniocentesis y cordocentesis mediante técnica de hibridación fluorescente in situ. Se presenta el caso de una paciente de ocho años que ha sobrevivido con esta condición, a pesar de presentar tetralogía de Fallot acompañada de malformaciones cardíacas graves. El diagnóstico comenzó por ecografía de tamizaje prenatal a las 16 semanas y ecografía de detalle, con amniocentesis y cariotipo de líquido amniótico, con resultado 47 XX+18. Ha sido tratada por múltiples especialidades médicas, debido a complicaciones osteomusculares, articulares, neurológicas, metabólicas y cardiovasculares que han limitado su calidad de vida. El manejo de estos pacientes requiere un equipo médico multidisciplinario. La consejería a los padres debe incluir aspectos relativos a la sobrevida, complicaciones frecuentes y riesgo-beneficio a evaluar antes de someter al menor a intervenciones quirúrgicas complejas o correctivas.


Edwards syndrome or trisomy 18 is a complex entity that involves the musculoskeletal, craniofacial, cardiovascular, and neurological systems. Its genetics are varied, presenting both in a complete and mosaic type. Survival rarely exceeds the first year of life. Its phenotype characterization is not pathognomonic, so karyotype is essential for diagnosis, prenatally by amniocentesis and cordocentesis by FISH technique. We present the case of an eight-year-old girl who has survived with this condition despite presenting tetralogy of Fallot and serious cardiac malformations. Diagnosis began with prenatal screening ultrasound at 16 weeks and detailed ultrasound, with amniocentesis and amniotic fluid karyotype, with a result of 47 XX+18. She has been treated by multiple medical specialties, due to musculoskeletal, joint, neurological, metabolic, and cardiovascular complications that have limited her quality of life. The management of these patients requires a multidisciplinary medical team, and counseling for parents should include aspects related to survival, frequent complications, and risk-benefit to be evaluated before subjecting the minor to complex or corrective surgical interventions.


Subject(s)
Humans , Female , Child , Quality of Life , Trisomy 18 Syndrome/physiopathology , Heart Defects, Congenital/physiopathology , Prenatal Diagnosis , Ultrasonography, Prenatal , Trisomy 18 Syndrome/diagnosis , Trisomy 18 Syndrome/therapy , Heart Defects, Congenital/diagnosis , Heart Defects, Congenital/therapy , Amniocentesis
19.
Chinese Journal of Medical Genetics ; (6): 483-485, 2020.
Article in Chinese | WPRIM | ID: wpr-826549

ABSTRACT

OBJECTIVE@#To explore the genetic basis for a female with a peripheral lymphocyte karyotype of trisomy 18 but normal intelligence.@*METHODS@#G-banding karyotype analysis, fluorescence in situ hybridization (FISH) and single nucleotide polymorphism microarray (SNP array) were employed to analyze the peripheral blood sample and buccal cells from the patient.@*RESULTS@#Chromosomal karyotyping, SNP array and FISH analysis of the patient's peripheral blood all suggested 47,XX,+18. Interphase FISH analysis of buccal cells, however, revealed presence of 45,X and low percentage of trisomy 18 and monosomy 18.@*CONCLUSION@#The clinical manifestation of germ layer chromosomal mosaicism is complex. The impact of the genetic disorder on the individual will depend on the structure and function derived from the affected germ layer.


Subject(s)
Female , Humans , In Situ Hybridization, Fluorescence , Intelligence , Karyotype , Karyotyping , Lymphocytes , Mosaicism , Mouth Mucosa , Polymorphism, Single Nucleotide , Trisomy 18 Syndrome , Genetics
20.
Chinese Journal of Medical Genetics ; (6): 1094-1096, 2019.
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)
Female , Humans , Pregnancy , Aneuploidy , Chromosome Disorders , Diagnosis , DNA Copy Number Variations , Prenatal Diagnosis , Sensitivity and Specificity , Trisomy , Trisomy 18 Syndrome
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