Sonographic Markers of Fetal Aneuploidy?A Review

Cicero, S.; Sacchini, C; Rembouskos, G.; Nicolaides, Kypros H.

doi:10.1016/s0143-4004(03)00141-3

Cited by 38 publications

(38 citation statements)

References 60 publications

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“…A number of sonographic abnormalities or "soft markers" have been associated with trisomy 21; some authors have combined these results to provide a risk score or probability for trisomy 21. 3,4 The goal of such prenatal screening programs is accurate detection of fetal aneuploidy and avoidance of unnecessary invasive diagnostic testing. For this purpose, ultrasound has proved to be an invaluable diagnostic and screening tool.…”

mentioning

confidence: 99%

Second-Trimester Biparietal Diameter/Nasal Bone Length Ratio Is an Independent Predictor of Trisomy 21

Tran

Carr

Mitsumori

et al. 2005

Journal of Ultrasound in Medicine

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Objective. The purpose of this study was to evaluate the association between the second-trimester fetal biparietal diameter/nasal bone length (BPD/NBL) ratio and trisomy 21. Methods. Thirty-one cases of trisomy 21 for which complete ultrasound images included the nasal bone were identified from the University of Washington prenatal diagnosis database and matched to 136 euploid fetuses based on maternal age, indication for referral, and gestational age. Results. The mean NBL was shorter (mean ± SD, 2.3 ± 1.7 mm versus 3.9 ± 1.2 mm; P < .001) and the BPD/NBL ratio was greater (17.7 [range, 6.2-114] versus 11.7 [range, 5.8-80]; P < .001) in the fetuses with trisomy 21. The risk of trisomy 21 increased 2.4-fold (95% confidence interval [CI], 1.7-3.4) with every 1-mm decrease in NBL and increased 1.08-fold (95% CI, 1.03-1.12) with each unit increase in the BPD/NBL ratio (P < .001). A multiple logistic regression model was constructed and included the BPD/NBL ratio, maternal indications (age ≥35 years, positive serum screening results, or both, yielding a risk of <1 per 270 for trisomy 21), and sonographic markers as covariates. The BPD/NBL ratio was found to be an independent predictor of trisomy 21 (odds ratio, 1.08; 95% CI, 1.03-1.11). An analysis of receiver operating characteristic curves revealed an improvement after the BPD/NBL ratio was added to a model containing the current second-trimester screening based on maternal age, serum screening, and sonographic markers (receiver operating characteristic curve area, mean ± SE, 0.89 ± 0.03 for the model with the BPD/NBL ratio versus 0.76 ± 0.06 without the BPD/NBL ratio; P = .009). Conclusions. The secondtrimester BPD/NBL ratio was a significant and independent predictor of trisomy 21. An assessment of the BPD/NBL ratio may improve the diagnosis of trisomy 21 when used with current prenatal screening practices. Key words: nasal bone length; screening; trisomy 21; ultrasound. Current second-trimester screening for aneuploidy includes maternal serum screening and targeted ultrasound evaluation. A number of sonographic abnormalities or "soft markers" have been associated with trisomy 21; some authors have combined these results to provide a risk score or probability for trisomy 21. 3,4 The goal of such prenatal screening programs is accurate detection of fetal aneuploidy and avoidance of unnecessary invasive diagnostic testing. For this purpose, ultrasound has proved to be an invaluable diagnostic and screening tool. The absence of the fetal nasal bone on prenatal sonogra- Received December 6, 2004, from the Department of Obstetrics and Gynecology, Division of MaternalFetal Medicine of Perinatal Medicine (L.T.T., D.B.C., S.B.U., L.E.S.), and Department of

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mentioning

confidence: 99%

Second-Trimester Biparietal Diameter/Nasal Bone Length Ratio Is an Independent Predictor of Trisomy 21

Tran

Carr

Mitsumori

et al. 2005

Journal of Ultrasound in Medicine

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“…In a recent study Cicero et al 43 demonstrated the methodology of calculating the likelihood ratio for trisomy 21 for some of the ultrasound markers and the process of sequential screening in the interpretation of results. The authors noted that the most rational approach is to carry out a screening test at 11 to 14 weeks by combining maternal age with sonographic measurement of fetal NT, nasal bone and maternal serum measurement of free β-hCG and PAPP-A.…”

Section: Scoring Indexmentioning

confidence: 99%

Genetic Screening for Aneuploidy in the Second-trimester

Antsaklis¹,

Theodora²

2008

Donald School Journal of Ultrasound in Obstetrics and Gynecology

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“…(7). Estos marcadores pueden combinarse en forma secuencial con los del primer trimestre, manteniendo una alta detección con una baja tasa de procedimientos invasivos adicionales (8,9).…”

Section: Introductionunclassified

“…Junto con lo anterior, es posible también sospechar la presencia de ciertos síndromes cromosómicos a través de la visualización de una serie de marcadores y/o malformaciones mayores en el feto (8). Sin embargo, el diagnóstico de certeza del cariotipo fetal solo es posible a través de algún procedimiento invasivo, que involucra la toma de una muestra de lí-quido amniótico, tejido placentario o sangre fetal.…”

Section: Introductionunclassified

Prevalencia De Procedimientos Invasivos en Una Población Chilena Usuaria De Métodos De Cribado Y Diagnóstico Prenatal

Quiroz

B³

et al. 2007

Rev. chil. obstet. ginecol.

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RESUMENObjetivo: Evaluar la prevalencia del uso de procedimientos invasivos prenatales en una población chilena con cribado y diagnóstico de alteraciones morfológicas y/o cromosómicas. Método: Estudio descriptivo en 17.906 embarazadas entre junio de 2000 y octubre de 2006, a las cuales se les realizó cribado ecográfico de aneuploidia y malformaciones congénitas durante el primer y segundo trimestre. Las pacientes fueron informadas y aconsejadas acerca de las implicancias de dichos procedimientos. Los procedimientos efectuados fueron la biopsia de vellosidades coriales (BVC), amniocentesis (AMCT) y cordocentesis. Se calculó la prevalencia y las indicaciones de dichos procedimientos. Resultados: Se realizaron 81 procedimientos invasivos (0,45%). Las BVC representaron un 43,3%, las AMCT el 37,0% y las cordocentesis un 19,7%. Las principales motivaciones para realizarse un estudio invasivo fueron malformaciones congénitas (48,1%) y aumento del riesgo de aneuploidía (40,7%). Los cariotipos alterados fueron 43,2% del total de los procedimientos, encontrándose 29% de trisomías 21, 46% de trisomías 18 y 13 y 20% de síndrome de Turner. Conclusión: La prevalencia de procedimientos invasivos fue 10 veces inferior a la descrita en países donde el aborto es legal, y aproximadamente la mitad de ellos resultaron alterados. En nuestra población utilizando una asesoría adecuada, la principal motivación para realizarse un procedimiento invasivo fue el mejor manejo obstétrico del embarazo y, secundariamente, la posibilidad de contar con una mejor información sobre la salud del hijo no nacido. PALABRAS CLAVE: Procedimientos invasivos, amniocentesis, biopsia de vellosidades coriales, cordocentesis SUMMARYObjective: The purpose of this study was to evaluate the prevalence and indications of invasive procedures in a population without termination of pregnancy. Method: This descriptive study was performed in pregnant women who had either assessment of risk for chromosomal abnormalities during the first and second trimester of pregnancy or detection of soft markers or structural defects at any gestational age from June 2000 to October 2006. The patients were counseled with regards their estimated risk, and were informed about invasive diagnostic tests. The invasive testing offered were chorion villous sampling (CVS), amniocentesis (AMCT) and fetal blood sampling (FBS). The prevalence of invasive testing was calculated and its causes analyzed according to the type of screening test. Results: Ultrasound was

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Sonographic Markers of Fetal Aneuploidy?A Review

Cited by 38 publications

References 60 publications

Second-Trimester Biparietal Diameter/Nasal Bone Length Ratio Is an Independent Predictor of Trisomy 21

Second-Trimester Biparietal Diameter/Nasal Bone Length Ratio Is an Independent Predictor of Trisomy 21

Genetic Screening for Aneuploidy in the Second-trimester

Prevalencia De Procedimientos Invasivos en Una Población Chilena Usuaria De Métodos De Cribado Y Diagnóstico Prenatal

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