Copy number variation analysis and outcomes of 1 658 fetuses with increased nuchal translucency / 中华围产医学杂志

Objective:To analyze the genetic etiology and prognosis in fetuses with increased nuchal translucency (NT) in order to assist in the clinical prenatal genetic counseling and diagnosis.Methods:This study retrospectively enrolled 1 658 cases of singleton pregnancy (<35 years old) receiving invasive prenatal diagnosis, including karyotype analysis and/or chromosome microarray analysis or copy number variation (CNV) sequencing, due to NT value ≥2.5 mm in the first trimester in Henan Provincial People's Hospital from August 2014 to December 2021. They were divided into different groups according to the thickness of NT (≥2.5-<3.0, ≥3.0-<3.5, ≥3.5-<4.5, ≥4.5-<5.5, ≥5.5-<6.5 and ≥6.5 mm groups) and abnormal ultrasound findings (isolated increased NT group, increased NT complicated by soft markers/non-severe structural abnormality group and increased NT complicated by severe structural abnormality group). The results of invasive prenatal diagnosis and pregnancy outcomes were compared between different groups using Chi-square test and trend Chi-square test. Results:The detection rates of numerical abnormalities of chromosomes were 15.8% (262/1 658) and 17.6% (252/1 431) when the NT thickness cut-off value were 2.5 mm or 3.0 mm, respectively. Overall, the detection rate of numerical abnormalities of chromosomes increased with thickness of NT ( χ2trend=180.75, P<0.001), ranging from 6.6% (44/671) in the NT≥2.5-<3.5 mm group to 45.6% (113/248) in the NT≥5.5 mm group. The incidence of pathogenic/likely pathogenic CNV(P/LP CNV) did not increased with NT thickness ( χ2trend=3.26, P=0.071), and the highest detection rate was observed in the NT≥4.5-<5.5 mm group (9.0%, 19/211). The detection rate of numerical abnormalities of chromosomes plus P/LP CNV in the isolated NT≥2.5-<3.0 mm group and NT≥3.0-<3.5 mm group were 5.3% (10/188) and 9.6% (36/375), respectively, however, the difference was not statistically significant ( χ2=3.06, P=0.080). The detection rates of numerical abnormalities of chromosomes plus P/LP CNV in the isolated NT≥3.5-<4.5 mm group and NT≥2.5-<3.0 mm complicated by soft markers/ non-severe structural abnormality group were 12.7% (52/410) and 24.1% (7/29), respectively, and the risk were 2.6 times (95% CI: 1.3-5.2) and 5.7 times (95% CI: 2.0-16.4) of the isolated NT≥2.5-<3.0 mm group, respectively. The pregnancy termination rate increased with the NT thickness ( χ2trend=304.42, P<0.001), ranging from 10.8% (23/212) in the NT≥2.5-<3.0 mm group to 90.7% (117/129) in the NT≥6.5 mm group. After exclusion of the pregnancies terminated due to numerical abnormalities of chromosomes and P/LP CNV, 87.6% (862/984) of the fetus with increased NT were born alive. Conclusions:The detection rate of numerical abnormalities of chromosomes increases with the thickness of NT. Invasive prenatal diagnosis is required for non-advance aged singleton pregnant women when fetuses present with isolated NT≥2.5 mm with or without soft markers/structural abnormalities.

Características ecográficas y anomalías congénitas en fetos con síndrome de Down / Ultrasound features and congenital anomalies in fetuses with Down syndrome

Resumen Objetivo: Describir y analizar los hallazgos ecográficos en 97 fetos portadores de síndrome de Down (SD) confirmado. Método: Se incluyeron todas las gestantes con diagnóstico prenatal de SD de nuestro centro, realizado por cariograma o reacción en cadena de la polimerasa cuantitativa fluorescente para aneuploidía. Se analizaron los informes genéticos y ecográficos, y se realizó un seguimiento posnatal. Resultados: De los 97 casos de SD, el 73% de los diagnósticos fueron entre las 11 y 14 semanas. El promedio de edad de las madres fue de 35,7 años. El 83% de los fetos con SD, evaluados a las 11-14 semanas, tuvieron una translucencia nucal ≥ 3,5 mm. Del total de los casos analizados, el 33% fueron portadores de una cardiopatía congénita, correspondiendo el 58% de estas a defectos mayores, principalmente anomalías del tabique auriculoventricular. Un 7,6% de los casos terminaron como mortinato, principalmente durante el tercer trimestre. Conclusiones: El ultrasonido es una herramienta muy sensible para la sospecha prenatal de SD y la detección de sus anomalías asociadas. Consideramos que la información aportada será útil para programar estrategias de pesquisa, organizar el control perinatal y precisar el consejo a los padres de fetos portadores de esta condición.

Abstract Objective: To describe and analyze the ultrasound findings in 97 fetuses with confirmed Down syndrome (DS). Method: All pregnant women with prenatal diagnosis of DS in our center, performed by karyotype or quantitative fluorescent polymerase chain reaction for aneuploidy, were included. Genetic and ultrasound reports were analyzed, as well as postnatal follow-up. Results: Of the 97 cases of DS, 73% of the diagnoses were between 11-14 weeks. The average age of the mothers was 35.7 years. 83% of our fetuses with DS, evaluated between 11-14 weeks, had a nuchal translucency ≥ 3.5 mm. Of the total of the fetuses analyzed, 33% were carriers of congenital heart disease, 58% of these correspond to a major defect, mainly anomalies of the atrioventricular septum. 7.6% of cases ended as stillbirth, mainly during the third trimester. Conclusions: Ultrasound is a very sensitive tool for prenatal suspicion of DS and the detection of its associated abnormalities. We believe that the information provided will be useful to program screening strategies, organize perinatal control and to counselling parents of fetuses carrying this condition.

Higroma quístico retronucal como marcador de anomalías cromosómicas en el primer trimestre de la gestación - Actualización

Objetivo. Evaluar la asociación del higroma quístico retronucal (HQR) y anomalías cromosómicas fetales. Métodos. Estudio observacional retrospectivo de 323 fetos del primer trimestre con riesgo para anomalías cromosómicas diagnosticados por ecografía entre las 11 y 13,6 semanas. Resultados. De 323 fetos con riesgo para anomalías cromosómicas, se encontró 132 casos de anomalías cromosómicas (40,9%). Se identificaron 145 casos de HQR; en 64 (56,6%) se realizó biopsia de vellosidades coriales y en 81 (43,5%) amniocentesis, hallándose cariotipo anómalo en 82 (56,6%). De 88 fetos con HQR aislado, 33 casos (37,5%) tuvieron alguna anomalía cromosómica; en 58 fetos con HQR asociado a otros hallazgos anormales, se encontró que en 43 fetos (74,1%) hubo anomalías cromosómicas, y de ellos 24 (41,4%) tenían onda de flujo (OVF) anormal del ductus venoso, 17 (29,3%) tenían edema generalizado, 8 casos (13,8%) con cardiopatía, 7 (12,1%) ausencia del hueso nasal. Los valores predictivos del HQR fueron: sensibilidad (S) 62,1%, especificidad (E) 67%, valor predictivo positivo (VPP) 56,6%, valor predictivo negativo (VPN) 71,9%, p<0,001, OR: 3,3. El HQR asociado a otros hallazgos anormales, tuvo los siguientes valores predictivos: S 52,4%, E 76,2%, VPP 76,2%, OR: 3,5, LR+: 2,2, p<0,000. El edema generalizado y el ductus venoso anormal tuvieron los valores predictivos más altos: VPP 88,2% y 83,3%, respectivamente. Las anomalías cromosómicas encontradas con mayor frecuencia fueron: T21 (53,7%), monosomía X (18,3%), T18 (15,9%), T13 (6,1%). Conclusiones. El higroma quístico retronucal es un marcador de riesgo con alto valor predictivo para anomalías cromosómicas, siendo mayor cuando está asociado a otros hallazgos ecográficos anormales. La identificación ecográfica del HQR en el tamizaje prenatal del primer trimestre debería ser indicación para recomendar una prueba diagnóstica para anomalías cromosómicas.

Objective: To evaluate the association of retronucal cystic hygroma (RCH) and fetal chromosomal abnormalities. Methods: Retrospective observational study of 323 first trimester fetuses at risk for chromosomal abnormalities diagnosed by ultrasound between 11 and 13.6 weeks. Results: Of 323 fetuses at risk for chromosomal abnormalities, 132 cases of chromosomal abnormalities were found (40.9%). A total of 145 cases of RCH were identified; chorionic villus biopsy was performed in 64 (56.6%) and amniocentesis in 81 (43.5%); an abnormal karyotype was found in 82 (56.6%). Of 88 fetuses with isolated RCH, 33 (37.5%) had some chromosomal abnormality. In 58 fetuses with RCH associated with other abnormal findings, chromosomal abnormalities were found in 43 fetuses (74.1%) and of these 24 (41.4%) had abnormal ductus venosus flow wave (DVF), 17 (29.3%) had generalized edema, 8 cases (13.8%) with cardiopathy, 7 (12,1%) with absent nasal bone. The predictive values of RCH were sensitivity (S) 62.1%, specificity (Sp) 67%, positive predictive value (PPV) 56.6%, negative predictive value (NPV) 71.9%, p<0.001, OR: 3.3. RCH associated with other abnormal findings were S 52.4%, Sp 76.2%, PPV 76.2%, OR: 3.5, LR+: 2.2, p<0.000. Generalized edema and abnormal ductus venosus had the highest predictive values: PPV 88.2% and 83.3%, respectively. The most frequently found chromosomal abnormalities were T21 (53.7%), monosomy X (18.3%), T18 (15.9%), T13 (6.1%). Conclusions: Retronucal cystic hygroma is a risk marker with high predictive value for chromosomal abnormalities, being higher when associated with other abnormal ultrasound findings. Ultrasonographic identification of RCH in first trimester prenatal screening should be an indication to recommend diagnostic testing for chromosomal abnormalities.

Copy number variant sequencing for chromosome analysis in 487 fetuses with increased nuchal translucency / 中华围产医学杂志

Objective:To analyze the genetic etiology of 487 fetuses with increased nuchal translucency (NT) using copy number variant sequencing (CNV-seq) and explore the relationship between increased NT and chromosomal abnormality.Methods:A retrospective study was performed on 487 fetuses with increased NT who received CNV-seq in the First Affiliated Hospital of Zhengzhou University from January 2018 to December 2020. These fetuses either had NT of ≥3.0-<3.5 mm (Group A, n=129) or ≥3.5 mm (Group B, n=358), the distribution and incidence of chromosomal abnormalities in the two sets of fetuses were analyzed using Chi square test or Fisher's exact test. Results:Fetuses with abnormal chromosomes accounted for 25.9%(126/487) of cases, including 107 with chromosome aneuploidy (22.0%) and 19 with pathogenic or likely pathogenic copy number variation (CNV, 3.9%). The detection rate of fetal aneuploidy in Group B was higher than that in Group A [14.0% (18/129) vs 24.9% (89/358), χ2=6.58, P=0.010]. However, no significant difference was observed regarding the detection rate of pathogenic or likely pathogenic CNV between the two groups ( χ2=0.30, P=0.584). Conclusions:The risk of fetal chromosome aneuploidy increased with NT thickness, but not with pathogenic or likely pathogenic CNV, which needed further verification due to the small sample size. CNV-seq is an option to detect the conventional detection methods for the genetic etiology of NT thickening fetuses.

Prenatal diagnosis and pregnancy outcome of increased nuchal translucency with or without nuchal cystic hygroma in fetuses during first trimester / 中华围产医学杂志

Objective:To compare the prenatal diagnosis and pregnancy outcome of increased nuchal translucency (NT) with or without nuchal cystic hygroma (CH) in fetuses with first-trimester NT ≥5 mm.Methods:Data from 131 fetuses with NT ≥5 mm who received invasive prenatal diagnosis at Guangzhou Women and Children's Medical Center from July 2017 to December 2020 were retrospectively collected and analyzed. Those with a septum in the cyst were grouped as NT with CH group ( n=57), and those without as increased NT without CH group ( n=74). Genetic test results, incidence of structural malformations, survival rate after birth were compared using Chi-square test or Fisher's exact test and non-parametric test. Results:There was no significant difference in the incidence of fetal genetic abnormalities[67.6%(50/74) vs 61.4%(35/57), χ 2=0.54, P=0.464], ultrasonic structural malformations [21.6%(16/74) vs 33.3%(19/57), χ 2=2.26, P=0.133], or in the survival rate (12/14 vs 3/8, P=0.053) between increased NT without CH group and NT with CH group. Conclusions:For increased NT with or without CH, although the two groups had different spectrum of disease, they had a high incidence of chromosomal abnormalities and structural malformations, and both groups had a certain healthy survival rate after birth.

Diagnostic value of ultrasound in fetal posterior fossa anomalies at 11-13 + 6 gestational weeks / 中华超声影像学杂志

Objective:To explore the diagnostic value of ultrasound in posterior fossa anomalies (PFA) at 11-13 + 6 gestational weeks by measuring brainstem (BS), brainstem-to-occipital bone (BSOB) diameter and BS/BSOB ratio. Methods:A total of 209 normal fetuses (control group) were randomly selected from Beijing Obstetrics and Gynecology Hospital, Capital Medical University, between March 2018 and November 2021. Reference ranges for BS, BSOB diameter and BS/BSOB ratio were obtained on the mid-sagittal view of the fetal profile and the relationship of three parameters and crown-rump length (CRL) was investigated. The intra- and inter-observer reliabilities were determined by intraclass correlation coefficient (ICC) in 30 normal fetuses. Fourteen fetuses diagnosed with PFA in the same period including 10 cases of cystic posterior fossa malformations (cPFM) and 4 cases of open spine bifida (OSB) were retrospectively selected to compare BS, BSOB diameter and the BS/BSOB ratio with control group.Results:BS and BSOB diameters were successfully obtained in all control fetuses (100%), and the intra- and inter-observer reliabilities for BS and BSOB diameters were good (ICC=0.877, 0.846 and 0.939, 0.895). In the control group, BS and BSOB diameter linearly correlated with CRL ( r=0.867, 0.794; all P<0.001), while the BS/BSOB ratio was 0.75 (0.71, 0.79). There were significant differences of BSOB diameter and BS/BSOB ratio between control group and PFA group (all P<0.05). Except for one isolated vermian hypoplasia (VH), the BSOB diameters in 9 (90%) cases of cPFM were above the 95th percentile of the calculated normal range and were below the 5th percentile in 4(100%) cases of OSB.Except for one isolated VH, the BS/BSOB ratio in 9 (90%) cases of cPFM was below the 5th percentile of the calculated normal range. The BS/BSOB ratio in 4 (100%) cases of OSB was above the 95th percentile of the calculated normal range. Conclusions:The measurements of BS and BSOB diameter are feasible with good repeatability. Abnormal BSOB diameter and BS/BSOB ratio are suggestive for PFA. The posterior fossa of isolated VH can be normal in the first trimester.

Value of fetal ultrasonography index in twin fetal heart malformation screening at 11-13 + 6 weeks of gestation / 中华超声影像学杂志

Objective:To investigate the clinical value of fetal ultrasonography in the screening of congenital heart malformations in twins at 11-13 + 6 weeks of gestation. Methods:A retrospective cohort study method was used.Cases were collected from Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing Maternal and Child Health Care Hospital (January 2012 to December 2016) and the Fourth Hospital of Shijiazhuang City (January 2014 to December 2018). The twins with singleton or twins with cardiac malformation were screened out as the cardiac malformation group, and the twins with normal delivery during the same period were selected as the control group. Ultrasound data such as the nuchal translucency (NT), crown-rump-length (CRL), chorionicity, conception method, NT discordance, CRL discordance, NT discordance ≥20% incidence rate between twins, and the CRL discordance ≥10% incidence rate between twins in the two groups at 11-13 + 6 weeks were compared and analyzed. Results:①There were 30 cases in the cardiac malformation group (including 27 twins with singleton cardiac malformation and 3 twins with twin cardiac malformation) and 1 906 cases in the control group. ②The incidence rates of NT value ≥95th percentile and NT value ≥99th percentile in one or two pregnancies were significantly higher in the cardiac malformation group than in the control group (20.00% vs 2.20%, P<0.001; 10.00% vs 0.63%, P=0.002), the area under the ROC curve (AUC) for cardiac malformation screening was 0.589 and 0.549, respectively; CRL discordance in cardiac malformation group was higher than that in control group ( P=0.018), the incidence of CRL discordance ≥10% in the cardiac malformation group was higher than that in the control group (26.67% vs 12.70%, P=0.024), the AUC of cardiac malformation screening was 0.570; there were no significant differences in the incidence of NT discordance, the incidence of NT discordance ≥20%, pregnancy pattern and chorionicity between the two groups (all P>0.05). ③Multivariate Logistic regression analysis was performed using the incidence rates of NT value ≥95% and NT value ≥99%, CRL discordance ≥10%, and NT discordance ≥20%. The incidences of fetal NT value ≥95% and NT value ≥99% were risk factors for cardiac malformation in twins ( OR=11.095, 105.778; 95% CI=4.311-28.558, 16.984-658.796). Conclusions:Ultrasound at 11-13 + 6 weeks of gestation showing thickened value of one or two fetuses, and the CRL discordance≥10%, indicates an increased risk of cardiac malformation in the twins; NT value ≥95% and NT value ≥99% is a risk factor for heart defects in twins.

Color and translucency of repressed lithium disilicate glass ceramic subjected to multiple firings and aging / Cor e translucidez da vitrocerâmica de dissilicato de lítio reprensada submetida a múltiplas queimas e ao envelhecimento

Objetivo: O objetivo deste estudo é avaliar o efeito de múltiplas queimas e envelhecimento na cor e na translucidez da vitrocerâmica de dissilicato de lítio reprensada (IPS e.max press). Material e Métodos: Um total de 42 discos de dissilicato de lítio (15 mm x 1 mm) foram fabricados usando a técnica de prensa térmica seguindo as instruções dos fabricantes. Eles foram divididos em três grupos de acordo com o número de ciclos de prensagem (n=14): Grupo P1 (pressionado uma vez), Grupo P2 (pressionado duas vezes) e Grupo P3 (pressionado três vezes). Cada grupo foi subdividido em dois subgrupos de acordo com o número de ciclos de queima (n=7): Subgrupo (F2): 2 ciclos de queima, Subgrupo (F4): 4 ciclos de queima. Em seguida, todos os corpos de prova foram submetidos à termociclagem. Os parâmetros de cor e translucidez (TP) foram avaliados por espectrofotômetro; após a prensagem, queima (ΔE1: diferença de cor entre prensagem e queima) e envelhecimento (ΔE2: diferença de cor entre prensagem e envelhecimento). Resultados:ΔE1 para o subgrupo F2 (3,38) apresentou menor valor estatisticamente significante do que ΔE1 para o subgrupo F4 (3,94). Após o envelhecimento, o grupo P3 apresentou o maior ΔE2 estatisticamente significante (6,41). Um ΔE2 estatisticamente inferior foi encontrado no grupo P2 (5,55). O grupo P1 apresentou o menor ΔE2 estatisticamente significante (4,28). O TP para o subgrupo F2 (18,27) apresentou valor superior ao subgrupo F4 (17,78). Houve uma diminuição estatisticamente significante no TP após o envelhecimento para todos os grupos testados. Conclusão: O aumento do número de ciclos de queima e de envelhecimento afetaram a cor e a translucidez do dissilicato de lítio reprensado. (AU)

Objective: The aim of this study is to evaluate the effect of multiple firings and aging on color and translucency of repressed lithium disilicate glass ceramic (IPS e.max press). Material and Methods: A total of 42 lithium disilicate discs (15 mm x 1 mm) were fabricated using heat press technique following the manufacturers' instructions. They were divided into three groups according to the number of pressing cycles (n=14): Group P1 (pressed once), Group P2 (pressed twice) and Group P3 (pressed thrice). Each group was subdivided into two subgroups according to the number of firing cycles (n=7): Subgroup (F2): 2 firing cycles, Subgroup (F4): 4 firing cycles. Then all specimens were subjected to thermocycling. Color and translucency parameter (TP) were evaluated by spectrophotometer; after pressing, firing (ΔE1: color difference between pressing and firing) and aging (ΔE2: color difference between pressing and aging). Results:ΔE1 for subgroup F2 (3.38) showed statistically significant lower value than ΔE1 for subgroup F4 (3.94). After aging, group P3 showed the statistically significant highest ΔE2 (6.41). A statistically significant lower ΔE2 was found with group P2 (5.55). Group P1 showed the statistically significant lowest ΔE2 (4.28). TP for subgroup F2 (18.27) showed higher value than subgroup F4 (17.78). There was a statistically significant decrease in TP after aging for all tested groups. Conclusion: Increasing the number of firing cycles and aging affected color and translucency of repressed lithium disilicate. (AU)

Conceptos básicos sobre el método de Lamendin en la estimación de edad / Basic concepts about Lamendin´s method in age estimation

Resumen La odontología forense representa una de las disciplinas más útilesen la identificación de seres humanos, los dientes también puedenbrindar entre otras características la edad aproximada de una persona. A lo largo de la historia se han desarrollado diferentes métodos de estimación de edad dentro de los cuáles el método de Lamendin(translucidez radicular) resulta sencillo y bastante precisosin la necesidad de equipo especializado para su realización. Como cualquier método diagnóstico presenta limitaciones, puede ser utilizado en adultos después de los 20 años en dientes unirradiculares sin caries, presentando mayor fiabilidad y precisión, cuando el rango de edad se mantiene entre 40 y 70 años. Sin embargo, el mismo no toma en consideración el sexo, ni la raza, por lo que esto puede representar una limitación considerable; aunado a lo anterior en Costa Rica hasta hoy no existen estudios que permitan corroborar la efectividad del método Lamendin en la población.

Abstract Forensic dentistry represents one of the most useful disciplines in the identification of human beings, teeth can also provide, among other characteristics, the approximate age of a person. Throughout history, different age estimation methods have been developed, among which the Lamendin method (root translucency) is simple and quite accurate without the need for specialized equipment to perform it.As any diagnostic method has limitations, it can be used in adults after the age of 20 in single-rooted teeth without caries, presenting greater reliability and precision, when the age range remains between 40 and 70 years. However, it does not take gender or race into consideration, so this can represent a considerable limitation; In addition to the above, in Costa Rica, to date, there are no studies that allow corroborating the effectiveness of the Lamendin method in the population.

Effect of varying thickness and artificial aging on color and translucency of cubic zirconia and lithium disilicate ceramics / Efeito da variação da espessura e do envelhecimento artificial na cor e translucidez de cerâmicas de zircônia cúbica e dissilicato de lítio

Objective: The aim of this study is to evaluate the effect of varying thickness and artificial aging on the color and translucency of cubic zirconia and lithium disilicate ceramics. Material and Methods: A total of 30 square shaped disks (12 mm x 12 mm) were fabricated from the cubic zirconia (Bruxzir Anterior) blank and lithium disilicate blocks (E.max CAD), used in three thicknesses (0.5mm, 0.8mm and 1mm). Portable spectrophotometer Vita Easyshade Advance was used to obtain color coordinates, which were substituted in formulas and used to calculate color change and translucency parameter values before and after aging (thermocycling for lithium disilicate and hydrothermal aging for cubic zirconia). Repeated measures Analysis of Variance (ANOVA) was used to study the effect of ceramic type, thickness, aging and their interaction on mean translucency parameter. Two-way (ANOVA) was used to study the effect of ceramic type, thickness and their interaction on mean color change (ΔE). Results: Statistical analysis showed that E.max CAD HT is more translucent than Bruxzir Anterior. Translucency decreased as thickness increased. There was a statistically significant decrease in TP after aging for both materials. Lithium disilicate showed statistically significant greater ΔE when subjected to aging than cubic zirconia, with both ΔE values being clinically imperceptible. As thickness increased, ΔE decreased. Conclusions: Thickness highly affected translucency and color of ceramics. As thickness increases, translucency parameter decreases and color change becomes less evident. Aging also causes a significant decrease in translucency parameter and induces color change however color changes are imperceptible. (AU)

Objetivo: O objetivo deste estudo é avaliar o efeito de diferentes espessuras e do envelhecimento artificial na cor e translucidez de cerâmicas de zircônia cúbica e dissilicato de lítio. Material e Métodos: Um total de 30 discos (12 mm x 12 mm) foram fabricados a partir de um bloco branco de zircônia cúbica (Bruxzir Anterior) e blocos de dissilicato de lítio (E.max CAD) em três diferentes espessuras (0,5mm, 0,8mm e 1mm). Um espectrofotômetro portátil Vita Easyshade Advance foi utilizado para obter as coordenadas de cores, que foram substituídas nas fórmulas e usadas para calcular os valores dos parâmetros de mudança de cor e translucidez antes e depois do processo de envelhecimento (termo ciclagem para dissilicato de lítio e envelhecimento hidrotérmico para zircônia cúbica). A análise de variância de medidas repetidas (ANOVA) foi usada para estudar o efeito do tipo de cerâmica, a espessura, o envelhecimento e a sua interação no parâmetro de translucidez média. Two-way (ANOVA) foi usado para estudar o efeito do tipo da cerâmica, espessura e sua interação na alteração de cor média (ΔE). Resultados: a análise estatística mostrou que a cerâmica E.max CAD HT é mais translúcida que Bruxzir Anterior. A translucidez diminuiu com o aumento da espessura. Houve uma diminuição estatisticamente relevante no TP após o envelhecimento para ambos os materiais. O dissilicato de lítio apresentou maior ΔE estatisticamente relevante quando submetido ao envelhecimento quando comparado com a zircônia cúbica, sendo ambos os valores de ΔE clinicamente imperceptíveis. Conforme a espessura aumentou, o ΔE diminuiu. Conclusão: a espessura afetou expressivamente na translucidez e cor das cerâmicas. À medida que a espessura aumentou, os parâmetros de translucidez diminuíram e a mudança de coloração se tornou menos evidente. O envelhecimento também causou uma diminuição significativa no parâmetro de translucidez das cerâmicas de zircônia cúbica e dissilicato de lítio. (AU)

The effect of accelerated aging on the color stability and translucency of novel zirconia reinforced rice husk dental composite resin in different infusion media / O efeito do envelhecimento acelerado na estabilidade de cor e translucidez de uma nova resina composta de casca de arroz reforçada com zircônia em diferentes meios de infusão

Objective: To compare the color stability and translucency of aged and unaged experimental zirconia reinforced rice husk nanohybrid composite resin (Zr-Hybrid) with a commercialized nanofilled and a microhybrid composite resin after immersion in four different infusion media. Material and Methods: Three groups of standardized disc-shaped composite resin with 80 samples per group were prepared as follow: Group 1 (Filtek-Z350-XT), Group 2 (Zmack-Comp), and Group 3 (Zr-Hybrid). Each group was further subdivided into aged (n=40) and unaged (n=40) groups. Initial color measurements were taken using a digital spectrophotometer based on CIE L*a*b* color system. Samples in aged subgroup were subjected to 2500 thermal cycles. Subsequently, all samples were immersed in four different types of infusion media (n=10): T1 - Distilled water, T2 - Soft drink, T3 - Tea and T4 - Coffee. After 15 days, color measurements of all samples were measured again. Data were analyzed using two-way ANOVA followed by Bonferroni and paired sample t-tests with a significance level set at P=0.05. Results: Unaged Zr-Hybrid showed comparable color change to Zmack-Comp and Filtek-Z350-XT (P=0.181), but aged Zr-Hybrid demonstrated the lowest color change (P<0.001). Zr-Hybrid exhibited the lowest translucency value (P<0.001), but no significant color and translucency changes (P=0.051 and P=0.069, respectively) were observed between unaged and aged Zr-Hybrid. Soft drink had the greatest effect (P<0.001) on color change, while coffee showed the greatest effect (P<0.001) on translucency. Conclusion: Although Zr-Hybrid showed greater opacity, it still retained its color stability and translucency after accelerated aging compared to commercialized microhybrid and nanofilled composite resins. All infusion media caused discoloration and affected the composite resins' translucency. (AU)

Objetivo: Comparar a estabilidade de cor e translucidez de uma resina composta nanohíbrida de casca de arroz reforçada com zircônia experimental envelhecida e não envelhecida (Zr-Hybrid) com uma resina composta comercial nanoparticulada e microhíbrida após a imersão em quatro meios de infusão diferentes. Material e Métodos: Três grupos de resina composta em forma de disco padronizado com 80 amostras por grupo foram preparados da seguinte forma: Grupo 1 (Filtek-Z350-XT), Grupo 2 (Zmack-Comp) e Grupo 3 (Zr-Hybrid). Cada grupo foi subdividido em grupos de envelhecimento (n = 40) e não envelhecimento (n = 40). As medições iniciais de cor foram feitas usando um espectrofotômetro digital baseado no sistema de cores CIE L * a * b *. As amostras do subgrupo envelhecido foram submetidas a 2500 ciclos térmicos. Posteriormente, todas as amostras foram imersas em quatro tipos diferentes de meios de infusão (n = 10): T1 - Água destilada, T2 - Refrigerante,T3 - Chá e T4 - Café. Após 15 dias, as medições de cor de todas as amostras foram medidas novamente. Os dados foram analisados usando ANOVA dois fatores seguido por Bonferroni e testes t pareados com nível de significância estabelecido em P = 0,05. Resultados: O grupo Zr-Hybrid não envelhecido mostrou uma mudança de cor comparável a Zmack-Comp e Filtek-Z350-XT (P = 0,181), mas o grupo Zr-Hybrid envelhecido demonstrou a menor mudança de cor (P <0,001). Zr-Hybrid exibiu o menor valor de translucidez (P <0,001), mas nenhuma mudança significativa de cor e translucidez (P = 0,051 e P = 0,069, respectivamente) foram observadas entre Zr-Hybrid não envelhecido e envelhecido. O refrigerante teve o maior efeito (P <0,001) na mudança de cor, enquanto o café apresentou o maior efeito (P <0,001) na translucidez. Conclusão: Apesar do grupo Zr-Hybrid tenha mostrado maior opacidade, ele ainda manteve sua estabilidade de cor e translucidez após envelhecimento acelerado em comparação com resinas compostas micro-híbridas e nanoparticuladas comercializadas. Todos os meios de infusão causaram descoloração e afetaram a translucidez das resinas compostas (AU)

Higroma quístico y la importancia de su diagnóstico prenatal: a propósito de un caso / Cystic hygroma and the importance of the prenatal diagnosis: about a case

RESUMEN El higroma quístico es la malformación del sistema linfático que más frecuentemente se observa en el período prenatal y que se ubica principalmente en el cuello y/o la nuca. Su tasa de detección ha aumentado desde la implementación de la translucencia nucal fetal (TN) en el primer trimestre de embarazo, y su presencia se ha relacionado con anomalías congénitas, aneuploidías, pérdida del embarazo y trastornos en el desarrollo. El objetivo de la presentación de este caso es resaltar la importancia del diagnóstico antenatal del higroma quístico, con el fin de realizar una intervención precoz y evitar la muerte fetal. Se recibe para estudio anatomopatológico, feto de sexo indeterminado producto del primer embarazo de una madre de 19 años de edad sin previos controles prenatales, con presencia de una gran masa quística que se extiende desde el rostro hasta la nuca. Mediante el estudio histológico se confirma el diagnóstico de higroma quístico. Al carecer de análisis de cariotipo no fue posible establecer la preexistencia de alguna anomalía genética. El también conocido como linfangioma quístico, es un tumor vascular benigno cuyo diagnóstico antenatal mediante la ultrasonografía resulta fundamental en la evolución y pronóstico de la enfermedad. Desafortunadamente en nuestro caso, la falta de controles prenatales y la ausencia de estudios ultrasonográficos que permitieran conocer las características de este linfangioma, pudo impactar significativamente en el desenlace fatal.

ABSTRACT The cystic hygroma is the malformation of the lymphatic system that is most frequently observed in the prenatal period and is located mainly in the neck and/or the nape of the neck. Its detection rate has increased since the implementation of fetal nuchal translucency (NT) in the first trimester of pregnancy and its presence has been associated with congenital abnormalities, aneuploidies, pregnancy loss, and developmental disorders. The aim of this case is to highlight the importance of antenatal diagnosis of cystic hygroma in order to perform early intervention and avoid fetal death. It is received, for anatomopathological study, a fetus of undetermined sex product of the first pregnancy of a 19 year-old mother without previous prenatal controls, with the presence of a large cystic mass that extends from the face to the neck. The histological study confirms the diagnosis of cystic hygroma. As there was no karyotype analysis, it was not possible to establish the preexistence of any genetic abnormality. Also known as cystic lymphangioma, is a benign vascular tumor whose antenatal diagnosis by ultrasonography is essential in the evolution and prognosis of the disease. Unfortunately in our case, the lack of prenatal controls and the absence of ultrasonographic studies that would allow knowing the characteristics of this lymphangioma, could significantly impact in the fatal outcome.

Prospective cohort study of fetal nuchal translucency in first-trimester and pregnancy outcome / 中华妇产科杂志

Objective@#To explore the relationship between fetal nuchal translucency (NT) in the first trimester and pregnancy outcome.@*Methods@#A prospective cohort study was conducted in Nanjjing Drum Tower Hospital from December 2015 to December 2018, 4 958 singleton pregnant women were enrolled to screen fetal ultrasound structure and serology in the first trimester, ultrasound in the second trimester and neonatus physical examination 28 days after birth. According to the results of NT, 167 cases of fetus with increased NT (≥3.0 mm) and 4 791 cases of normal NT were divided, moreover, 86 cases with isolate increased NT and 81 cases of increased NT combined with structural abnormality. The prognosis of fetuses with different NT thickness was analyzed, and the pregnancy outcome of fetuses with isolate increased NT or combined with structural abnormality were analyzed. In the first trimester, if the fetal structure was abnormal or the serological screening result was high risk, the chromosomal microarray analysis (CMA) would be performed by chorionic villus sampling to determine the prenatal diagnosis.@*Results@#(1) The pregnancy outcome for fetus of normal NT: there were 4 791 cases with normal NT. Totally, 4 726 cases with normal NT and no structural abnormalities were screened out in the firsttrimester. In this group, 5 cases of aneuploidies were diagnosed based on high risk of maternal serum biomarkers and 83 cases of structural abnormalities were screened out in the subsequent ultrasound scan and the neonatal examination. Another 65 cases with normal NT present complicated with structural anomalies were screened out in the first trimester and 4 cases were diagnosed as aneuploidies. (2) The pregnancy outcome for fetus of isolate increased NT: 66 (76.7%, 66/86) cases of isolated increased NT were performed CMA, 3 cases were diagnosed as trisomy 21 and terminated pregnancy. Another 4 cases were terminated pregnancy privately without cytogenetic diagnosis. No further anomalies were found in 79 cases till 6 to 21 months postnatally. (3) The pregnancy outcome for fetus of increased NT with structural anomalies: increased NT present with structural anomalies were screened out by detailed anomaly scan in the first trimester and 32 of them were confirmed as aneuploidies. In this group, 70 cases terminated pregnancy, 2 cases had spontaneous miscarriages and 9 cases had liveborns (1 newborn was found ventricular septal defect). (4) The pregnancy outcome for fetus of increased NT with or without structural anomalies: the percentage of aneuploidies in fetuses with isolated increased NT (3.5%, 3/86) was significantly lower than those with structural abnormalities (39.5%,32/81). The healthy survival rate in fetuses with isolated increased NT (91.9%,79/86) was significantly higher than those with structural abnormalities (9.9%, 8/81).@*Conclusions@#A detailed first-trimester anomaly scan could improve prenatal screening efficiency of birth defects. Compared to the fetuses with increased NT combined with structural abnormalities, the healthy survival rate of fetuses with isolated increased NT based on detailed first-trimester anomaly scan is higher and the percentage of fetal aneuploidies is lower.

Genetic analysis and clinical phenotype of a family with lymphedema-distichiasis syndrome / 浙江大学学报·医学版

OBJECTIVE@#To identify the genetic causes of a family with lymphedema-distichiasis syndrome (LDS).@*METHODS@#The whole exome sequencing was performed in a aborted fetus as the proband, and a candidate gene was identified. Peripheral blood of 8 family members were collected. Genotypic-phenotypic analysis were carried out through PCR amplification and Sanger sequencing.@*RESULTS@#The proband, and the mother, grandmother, uncle, granduncle of the proband all had distichiasis or varix of lower limb carried a @*CONCLUSIONS@#The

Desempenho clínico de laminados cerâmicos em zircônia ultratranslúcida: ensaio clínico controlado e randomizado / Clinical performance of ultratranslucent zirconia ceramic laminates: randomized controlled clinical trial

Objetivo: Avaliar a sobrevida clínica de laminados cerâmicos em zircônia ultratranslúcida e os impactos desse tratamento na qualidade de vida do paciente. Materiais e métodos: O estudo é um ensaio clínico controlado e randomizado, duplo cego (paciente e avaliador) e de caráter longitudinal. A amostra foi de 82 laminados cerâmicos: 39 laminados em dissilicato de lítio para o grupo controle e 43 em zircônia ultratranslúcida para o grupo experimental. O tratamento restaurador foi realizado por cirurgiões-dentistas participantes do projeto de extensão "Próteses Fixas Metal-Free". A coleta de dados foi realizada por um único examinador nos períodos de avaliação de 1 mês (T1), 6 (T2), 12 (T3), 24 (T4), 36 (T5) e 48 (T6) meses. Quanto ao impacto na qualidade de vida, um questionário modificado OIDP (Oral Impact of Daily Performances) foi usado. A análise da longevidade clínica foi feita através dos critérios modificados de Ryge conferidos com espelho clínico e explorador. Os dados referentes a sobrevida dos laminados de diferentes materiais foram representados graficamente através da curva de Kaplan-Meier. Os escores dos critérios de Ryge, e impacto na qualidade de vida do paciente foram a analisados descritivamente. As espessuras médias para cada terço (cervical, medial e incisal) foram comparadas entre os diferentes materiais através do teste Anova 1 fator. Para análise estatística o nível de significância estabelecido foi de 5%. Resultados: A taxa de sobrevida clínica foi de 100% para os laminados de ambos os materiais. Apenas o critério descoloração marginal obteve uma classificação diferente de A. O escore B foi apresentado por 9 laminados de dissilicato de lítio e 2 de zircônia ultratranslúcida, Não houve nenhuma interferência negativa do tratamento na qualidade de vida dos indivíduos. Falar e relaxar foram as atividades em que o tratamento menos interferiu. Não houve diferença estatisticamente significante para as espessuras dos laminados entre os dois tipos de materiais. Conclusão: O tratamento com laminados confeccionados em zircônia ultratranslúcida apresenta desempenho clínico similar aos casos tratados em dissilicato de lítio (AU).

Objective: to evaluate the clinical survival of ceramic laminates in ultra-translucent zirconia and the impacts of this treatment on the patient's quality of life. Materials and methods: The study was analyzed as a controlled, randomized, double-blind (patient and evaluated) clinical trial with a longitudinal character. The sample studied was 82 ceramic laminates divided into two groups according to the type of material, 39 laminates in lithium disilicate for the control group and 43 in ultra-translucent zirconia for the experimental group. The restorative treatment was carried out by dentists participating in the extension project "Metal-Free Fixed Prostheses". Data collection was performed by a single examiner in the evaluation periods of 1, 6, 12, 24, 36 and 48 months. For the impact on quality of life, a modified OIDP (Oral Impact of Daily Performance) was used. An analysis of clinical longevity was performed using Ryge's modified criteria with a clinical mirror and explorer. The data on the survival of laminates of different materials were plotted using the Kaplan-Meier curve. The Ryge criteria scores and impact on the patient's quality of life were descriptively arranged. The thicknesses for cervical, medial and incisal were compared between the different materials using the ANOVA One-Way test. For statistical analysis, the level of significance was set at 5%. Results: The clinical survival rate was 100% for the laminates of both materials. Only the discoloration marginally criterion obtained from a classification other than A. The B score was presented by 9 laminates of lithium disilicate and 2 of ultra-translucent zirconia. There was no negative interference from treatment on the quality of life. Talking and relaxing were activities in which the treatment least interfered. No statistically significant difference for laminate thickness between the two materials. Conclusion: The treatment with laminates made of ultratranslucent zirconia has clinical performance similar to the cases treated with lithium disilicate (AU).

Síndrome de Down y su pesquisa durante el primer trimestre de la gestación / Down Syndrome and Screening During Pregnancy First Trimester

RESUMEN Introducción: La pesquisa prenatal de anomalías cromosómicas, mediante el uso de marcadores epidemiológicos y ecográficos del primer trimestre permite identificar gestantes con riesgo incrementado de síndrome de Down. Objetivos: Analizar la edad materna, la translucencia nucal, el ductus venoso y el hueso nasal, durante el cribaje del primer trimestre, en las gestantes que se realizaron diagnóstico prenatal citogenético, con el fin de evaluar la efectividad del mismo en la detección temprana del síndrome Down y su utilidad para la reducción del número de pruebas invasivas. Métodos: Se realizó un estudio descriptivo retrospectivo de corte transversal y se analiza una muestra de 3439 gestantes a las que se realizó el estudio citogenético indicado en el Centro Provincial de Genética Médica de La Habana, en el período comprendido entre el 3 de enero de 2006 y el 30 de diciembre de 2008. Resultados: La edad materna avanzada mostró una sensibilidad de un 87 por ciento del test y una tasa de falsos positivos de 99 por ciento. La translucencia nucal se comportó con una sensibilidad de 10 por ciento. El hueso nasal no mostró asociación con los cariotipos positivos para síndrome de Down. Al no realizarse sistemáticamente la presencia del ductus venoso, no se pudo establecer una asociación estadística. La estimación de riesgo de síndrome de Down basada únicamente en la edad materna avanzada determina una alta tasa de falsos positivos. Por lo que este marcador, unido a la evaluación de los marcadores ecográficos del primer trimestre para recalcular el riesgo individual, puede aumentar la efectividad en el diagnóstico y disminuir el número de pruebas invasivas. Conclusiones: La estimación de riesgo de síndrome de Down basada únicamente en la edad materna avanzada determina una alta tasa de falsos positivos. Por lo que este marcador, unido a la evaluación de los marcadores ecográficos del primer trimestre para recalcular el riesgo individual, puede aumentar la efectividad en el diagnóstico y disminuir el número de pruebas invasivas(AU)

ABSTRACT Introduction: The prenatal investigation of chromosomal abnormalities through the use of epidemiological and echographic markers on the first trimester, allows to identify pregnant women with an increased risk of Down syndrome. Objectives: To analyze maternal age, nuchal translucency, venous ductus and nasal bone, during the first trimester screening, in pregnant women who underwent prenatal cytogenetic diagnosis, in order to evaluate effectiveness in early detection of Down syndrome and the value for reducing the number of invasive tests. Methods: A descriptive retrospective cross-sectional study was carried out and a sample of 3439 pregnant women was studied. The cytogenetic study ordered at Havana Provincial Center for Medical Genetics was carried out from January 3, 2006 to December 30, 2008. Results: Advanced maternal age showed 87 percent sensitivity and 99 percent of false positive rate. Nuchal translucency accounted 10 percent of sensitivity. The nasal bone showed no association with positive karyotypes for Down syndrome. A statistical association of the venous ductus presence could not be established since the search was not systematically. Conclusions: The estimation of Down syndrome risk based solely on advanced maternal age determines high false positive rate. Therefore, this marker, together with the evaluation of the first trimester ultrasound markers for recalculating the individual risk, can increase the diagnostic effectiveness and decrease the number of invasive tests(AU)

Pronóstico de la translucencia nucal fetal ≥ 5,5 mm en Lima, Perú

Introduction: First trimester screening has been performed for over 19 years in Peru, but there is no information on the outcomes. Objective: To determine the prognosis of an increased fetal nuchal thickness (NT). Patients: Ultrasound assessment of fetal nuchal thickness in 10 340 consecutive fetuses, 11 to 13 weeks gestation. Interventions. Fetal screening was performed by nine sonographers accredited by the Fetal Medicine Foundation (FMF); the FMF recommendations were followed. Data were recorded using Astraia software. Results: Thirty-seven (0.36%) fetuses presented NT ≥ 5.5mm. Eight patients were lost to follow up. The remaining 29 cases were included in this report. Prenatal karyotyping was performed in 18 cases; 17 of them were abnormal and presented trisomy 21 (7), trisomy 18 (4), monosomy X (5), and trisomy 22 (1). Four of the seven cases of trisomy 21 were born at term without major anomalies. Eleven did not have prenatal testing; one of them was a healthy newborn at term, the remaining 10 died in utero. Seventeen of the 19 known karyotypes were abnormal, which significantly differs from Kagan's results (89% vs 64%, p<0.05) Conclusion: Fetuses with nuchal translucency ≥ 5.5mm in our institution presented a worse prognosis in significantly more cases, compared to other reports.

Introducción. El tamizaje ecográfico del primer trimestre se realiza en el Perú desde hace 19 años, pero se carece de información del seguimiento de las pacientes evaluadas. Objetivos. Determinar el pronóstico de una translucencia nucal (TN) muy aumentada en el feto. Diseño. Estudio retrospectivo observacional. Pacientes. Se evaluó 10 340 fetos consecutivos entre las 11 y 13 semanas, en madres que llegaron al servicio de ecografía. Intervenciones. Evaluación por nueve ecografistas acreditados por la Fetal Medicine Foundation (FMF) siguiendo las recomendaciones de la FMF. Los resultados fueron registrados en el software Astraia. Resultados. Treintaisiete (0,36%) pacientes tuvieron TN ≥ 5,5 mm; ocho no regresaron a la institución y se desconoce el desenlace de su embarazo, por lo que no fueron considerados en el análisis posterior. De los 29 reportados, en 18 se realizó cariotipo prenatal, 17 de ellos fueron anormales (7 trisomías 21; 4 trisomías 18; 5 monosomías X; una trisomía 22). Cuatro de los 7 fetos con trisomía 21 nacieron a término sin malformaciones importantes; uno falleció durante el embarazo, otro embarazo fue interrumpido en el extranjero y se desconoce el desenlace de un caso. De los 11 que no se realizaron cariotipo prenatal, uno (3,2%) nació vivo y sano y los otros 10 fallecieron durante el embarazo. Diecisiete cariotipos de 19 conocidos fueron anormales, lo que difiere significativamente de los resultados de Kagan (89% vs 64%, p<0,05). Conclusiones. El pronóstico de los fetos con TN ≥5,5 mm en nuestra institución fue significativamente peor que el publicado en la literatura.

Assessment of ROOT Dentin Translucency For age Estimation: The First Comparative Study of Conventional, Stereomicroscopic & Digital Methods

Introduction: Age estimation has always been a crucial concern in permissible and scandalous investigations for establishing one’s identity. Assessment of chronological age of an individual by dental hard tissues is an important specialty in the turf of forensics especially in enigmatic conditions including mass disasters and festering postmortem residues. Teeth bestowing the properties of hardness, resilience prove to be the reliable material for age estimation in the identification of the unknown. Translucency in root dentin is considered to be one of the best criteria for estimation or assessment of dental age. Objectives: The present investigation evaluates and compares the effectiveness of conventional, stereomicroscopic and digital methods for age estimation by measuring root dentin translucency & concluding the best method among them. Methods: A total of 30 permanent teeth of the age group 21- 80 years were sectionioned longitudinally of thickness 250µm & translucency in root dentin was calculated using conventional, stereomicroscopic & digital methods and was compared. Results: There was no statistically considerable difference (p=0.584) observed in translucency length obtained by the three methods. Linear regression equations derived from the three methods revealed most accurate method as digital followed by conventional and stereomicroscopic to assess age. The digital method is statistically significant with highest accuracy allowing better visualization, easy to use and less time consuming. Conclusion: Taking into consideration the benefits, the present study recommends the use of digital method to assess translucency for age estimation.

False negative non-invasive prenatal screening result for trisomy 18: a case report / 中华围产医学杂志

We hereby reported a case of false negative non-invasive prenatal screening (NIPS) for trisomy 18. The fetus with increased nuchal translucency (3.2 mm) detected by ultrasound scan at 13+4 gestational weeks received NIPS and the result was negative in chromosomes 21, 18 and 13. A routine ultrasound examination at 22 weeks of gestation revealed multiple anomalies and a second NIPS was offered, which showed a negative result again. The pregnancy was terminated at 22+3 weeks. Multiple fetal and placental biopsies were collected for chromosome analysis using copy number variation sequencing based on high-throughput sequencing and fluorescence in situ hybridization. The fetal karyotype was shown to be 47,XY,+18 in fetal tissues (skin and liver) and umbilical cord, while no chromosomal abnormalities was detected at or near the center of the fetal and maternal surface of the placenta. Results of the chromosomal analysis along the edges of the fetal and maternal surfaces of the placenta were Chr18:47,XY,+18[60]/46,XY[40] and Chr18:47,XY,+18[35]/46,XY[65], respectively. We inferred that placental mosaicism was the cause of the false negative NIPS result. Therefore, genetic counseling before and after NIPS is necessary. Follow-up ultrasound is important for NIPS-negative patients. Invasive prenatal diagnosis is recommended when abnormal ultrasound markers with possible genetic etiology were recognized.

Optical properties of computer aided design and computer aided manufactured materials for veneer restorations / 中华口腔医学杂志

Objective@#To investigate the translucency parameters (TP) and the color parameters of computer-aided design and computer-aided manufacturing (CAD/CAM) materials for veneer restorations in order to guide clinical practice.@*Methods@#Eleven groups of CAD/CAM materials (A2 shade) were included in this study: IPS e.max CAD HT/LT, IPS Empress CAD HT/LT, LavaTM Ultimate HT/LT, VITA SUPRINITY HT/T, VITA ENAMIC HT/T, VITABLOCS Mark Ⅱ, and were named as Group A, B, C, D, E, F, G, H, I, J, K. Each material was designed and milled to disk-shaped specimens (10.0 mm×8.0 mm×0.7 mm) (n=6). The specimens were polished with silicon carbide paper and the thickness of specimens were adjusted into (0.60±0.03) mm. The color parameters of specimens were individually measured with the colorimeter against black and white ceramic tiles background to obtain the TP values. The color parameters of the specimens against the composite resin background were also measured and the color differences (ΔE values) between specimens and the A2 shade tab were calculated.@*Results@#One-way ANOVA showed that the translucency parameters of the 11 groups of materials were statistically significant (F=253.69, P<0.05). The ΔE values of CAD/CAM material groups ranged from 1.78 to 4.12 (ΔE values<5.5).@*Conclusions@#The microstructure of CAD/CAM materials and the types of material translucency influence the optical properties. The CAD/CAM materials in this experiment have achieved color matching with the A2 shade tab.