Evaluation of the usefulness of the fetal femur length and humeral length to detect Down syndrome in Korean subjects

Hyun Jin Cho; Hye-Sung Won; Jae-Yun Sim; Pil-Ryang Lee; Ahm Kim

doi:10.5468/kjog.2010.53.11.967

Journal List > Korean J Obstet Gynecol > v.53(11) > 1006493

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Cho, Won, Sim, Lee, and Kim: Evaluation of the usefulness of the fetal femur length and humeral length to detect Down syndrome in Korean subjects

Original Article

Korean Journal of Obstetrics and Gynecology

Korean Journal of Obstetrics and Gynecology 2010; 53(11): 967-972.

Published online: 30 November 2010

DOI: https://doi.org/10.5468/kjog.2010.53.11.967

Evaluation of the usefulness of the fetal femur length and humeral length to detect Down syndrome in Korean subjects

Hyun Jin Cho, M.D.¹, Hye-Sung Won, M.D.², Jae-Yun Sim, M.D.², Pil-Ryang Lee, M.D.², Ahm Kim, M.D.²

¹Department of Obstetrics and Gynecology, Haeundae Paik Hospital, Inje University College of Medicine, Busan, Korea.

²Department of Obstetrics and Gynecology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.

Corresponding author (hswon@amc.seoul.kr)

Received 18 May 2010 Accepted 12 July 2010

Abstract

Objective

We investigated the usefulness of shortening of the fetal femur length (FL) and humeral length (HL) to predict Down syndrome at the middle gestation of pregnancy in Korean subjects.

Methods

This retrospective study involved 41 fetuses with Down syndrome and 328 fetuses with normal chromosome between 14+0 and 28+6 weeks of gestation. The expected FL and HL for any biparietal diameter (BPD) was calculated based on the control group data. The odds ratios for measure to expected FL and HL in comparison between normal fetuses and Down syndrome fetuses were calculated. The sensitivities of short FL and HL to predict Down syndrome were analyzed at a fixed false positive rate of 5%.

Results

The lengths of femur and humerus long bone for any BPD in Down syndrome group were significantly shorter than the lengths in control group (P<0.001). A low ratio of measured to expected FL and HL increased the risk of fetal Down syndrome (P<0.001). At a fixed false positive rate of 5%, the sensitivities were 21.3% (95% confidence interval [CI] 0.698~0.852, P<0.001) in FL and 29.9% (95% CI 0.773~0.914, P<0.001) in HL.

Conclusion

Both of short FL and HL are poor marker for Down syndrome at the middle gestation of pregnancy in Korean population though the sensitivity of HL was higher than FL.

Keywords: Down syndrome, Femur length, Humeral length, Prenatal diagnosis, Ultrasound

Figures and Tables

Figure 1

Regression lines of femur lengths (FL) with respect to biparietal diameter (BPD) in the study group and control group. FL=-6.150+0.754^*BPD in study group. FL=-6.470+0.812^*BPD in control group.

Figure 2

Regression lines of humeral length (HL) with respect to biparietal diameter (BPD) in the study group and control group. HL=-1.893+0.625^*BPD in study group. HL=-0.940+0.672^*BPD in control group.

Figure 3

Receiver operating characteristiccurve for a Down syndrome prediction, based on the ratio of measured to expected femur length (95% confidence interval 0.698~0.852).

Figure 4

Receiver operating characteristic curve for a Down syndrome prediction, based on the ratio of measured to expected humeral length (95% confidence interval 0.773~0.914).

Table 1

Odds ratio for Mefl2 and Mehl2 derived in comparison between normal fetuses and Down syndrome fetuses in the same gestational age

Mefl2 is (measured femur length/expected femur length-1)^*100.

Mehl2 is (measured humeral length/expected humeral length-1)^*100.

Table 2

Sensitivities and false positive rate using a measured to expected long bone length of ≤0.91

Table 3

Sensitivities of the measured/expected lengths of long bone at a fixed false positive rate of 5% for prediction of Down syndrome with respect to gestational age

CI: confidence interval.

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