Correlation of ultrasound findings and biochemical markers in the second trimester of pregnancy in fetuses with trisomy 21

Souter, Vivienne; Nyberg, David A.; El-Bastawissi, Amira Y.; Zebelman, Arthur M.; Luthhardt, Fred; Luthy, David A.

doi:10.1002/pd.278

Cited by 34 publications

(11 citation statements)

References 63 publications

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“…These are discussed in greater detail below and compared with the results of a similar study by Benn et al 29 These results are also compared with a previous study of fetuses with trisomy 21 by Souter et al 30 In this study, a weakly negative correlation was observed between both FL and HL and hCG. Benn et al 29 observed weakly negative correlations between log hCG and both log BPD/FL and log BPD/HL in control fetuses, but these did not reach statistical significance.…”

Section: Discussionsupporting

confidence: 65%

“…Benn et al 29 observed a significant negative correlation between log AFP and log NF thickness in control pregnancies (correlation coefficient, -0.210; P < .01), which was not apparent in our study. Benn et al also reported a negative correlation between log estriol and log NF thickness (correlation coefficient, -0.032; P < .01) in cases affected with fetal 30 reported a significant positive correlation between NF thickness and hCG among fetuses with trisomy 21 but not in control fetuses. In a comparison of these studies, the possible biochemical correlations with NT are uncertain with the exception of a positive correlation between NT and hCG among fetuses with trisomy 21.…”

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confidence: 95%

“…In our previous study of trisomy 21, AFP and estriol were lower in the presence of EIF (P < .05), whereas hCG was not significantly different. 30 The association between hyperechoic bowel and increased levels of hCG and AFP seems more biologically plausible. As an independent finding, hyperechoic bowel is associated with an increased risk of adverse pregnancy outcome.…”

mentioning

confidence: 99%

“…In one of the few studies correlating sonographic and biochemical markers, Benn et al 29 analyzed the correlations between second-trimester biochemical markers (α-fetoprotein [AFP], hCG, unconjugated estriol, and dimeric inhibin A) and 3 sonographic markers (HL, FL, and NF thickness) in 72 pregnancies affected by trisomy 21 and in 7063 control pregnancies scanned between 15 and 22 weeks' gestation. Souter et al 30 measured sonographic and serum marker correlations in an additional 72 pregnancies complicated by Down syndrome. Correlation coefficients can be viewed as weighting factors in risk estimation, with positive correlations diminishing the importance of the 2 variables in the calculation.…”

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confidence: 99%

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Correlation of Second-Trimester Sonographic and Biochemical Markers

Souter

Nyberg

Benn

et al. 2004

Journal of Ultrasound in Medicine

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Objectives. To investigate correlations between sonographic soft markers and biochemical markers (human chorionic gonadotrophin, α-fetoprotein, and estriol) for Down syndrome in the second trimester of pregnancy. Methods. A total of 2183 women with apparently normal singleton fetuses who underwent second-trimester sonography (14-22 weeks) and maternal serum biochemical testing (triple test) were identified. Seven sonographic markers were recorded: nuchal fold thickness, humerus length, femur length, renal pyelectasis, hyperechoic bowel, echogenic intracardiac focus, and choroid plexus cysts. Results. Weak negative but statistically significant correlations were observed between human chorionic gonadotropin (multiples of the median) and both femur length (multiples of the median; Spearman ρ = -0.073; P < .01) and humerus length (multiples of the median; Spearman ρ = -0.083; P < .01). No other correlations significant at the 1% level were observed between femur length (multiples of the median) or humerus length (multiples of the median) and the biochemical markers. There were no significant correlations between nuchal fold thickness and any of the 3 biochemical markers. At the 5% (P < .05) level, the median human chorionic gonadotropin level (multiples of the median) was lower when an echogenic intracardiac focus was detected. Hyperechoic bowel also tended to be associated with higher median human chorionic gonadotropin (multiples of the median) and α-fetoprotein (multiples of the median) levels (P < .05). Conclusions. We found that sonographic and biochemical markers for trisomy 21 are largely independent in unaffected pregnancies. For accurate risk estimation, correlations in both affected and unaffected pregnancies need to be considered. No or minimal correlation between sonographic markers and serum screening tests indicates that they can be used as independent modifiers of the maternal age-specific risk for Down syndrome.

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Section: Discussionsupporting

confidence: 65%

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confidence: 99%

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Correlation of Second-Trimester Sonographic and Biochemical Markers

Souter

Nyberg

Benn

et al. 2004

Journal of Ultrasound in Medicine

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“…However, in this age group, it is possible to modify an individual's age-related risk of carrying an aneuploid fetus based on first trimester nuchal translucency measurement, 3 maternal serum markers, [4][5][6] second trimester ultrasound [7][8][9][10][11] or a combination of these methods. [12][13][14][15] Not all older women avail themselves of screening. 16,17 Some do not wish to undergo an invasive test.…”

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confidence: 99%

Normal obstetric ultrasound reduces the risk of Down syndrome in fetuses of older mothers

Anderson

Luehr

2006

Australasian Radiology

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The objective of this study is to determine whether a normal fetal morphology ultrasound scan in women older than 35 years reduces the risk of aneuploidy. We reviewed the results of amniocentesis and second trimester sonogram in all women older than 35 years from 1991 to 1995. None had prior screening. We excluded fetuses with structural anomalies. We determined the sensitivity and specificity of minor markers in detecting Down syndrome and also determined the reduction in risk of a normal sonogram. Among the 2060 women older than 35 years giving birth during the study period, 16 (0.78%) delivered an infant with Down syndrome. Of the 16 fetuses, two had no prenatal testing or ultrasound, two had invasive testing but no second trimester sonogram, five had a normal sonogram and seven had one or more sonographic markers of Down syndrome. At least 17% of women older than 35 years did not participate in prenatal testing or ultrasound. Ultrasound detected Down syndrome with a sensitivity of 59% (95% confidence interval: 45-72%), a false-positive rate of 10.6% (9.4-11.8%) and a positive predictor value of 1 in 9. The likelihood of having normal karyotype if the sonogram was normal was 0.46 (0.31-0.61). In women older than 35 years, a normal second trimester sonogram reduces the risk of Down syndrome by more than 50%. At least 17% of women older than 35 years do not participate in prenatal testing or ultrasound.

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