The cavum septi pellucidi in euploid and aneuploid fetuses.

OBJECTIVE: To examine whether the cavum septi pellucidi (CSP) is larger in second- and third-trimester fetuses with chromosomal abnormalities than in euploid fetuses. METHODS: This was a retrospective study utilizing stored two-dimensional images of second- and third-trimester fetuses between 18 and 40 weeks' gestation from three centers in Germany. The width of the CSP was measured by placing the calipers on the inner portion of its lateral borders. Two operators, both of whom were blinded to the fetal karyotype and to the measurements obtained by the other, measured the CSP width. The normal range in euploid fetuses was computed based on the biparietal diameter (BPD) by applying univariate regression analysis. The CSP width in euploid and aneuploid fetuses was transformed into Z-scores and compared using Student's t-test. Univariate regression analysis was used to determine the dependency of Z-score on head biometry. RESULTS: The study population consisted of 406 singleton pregnancies, 267 with euploid fetuses, 81 with trisomy 21, 50 with trisomy 18 and eight with trisomy 13. In the euploid group, the mean CSP width was 4.5 (range, 1.8-7.4) mm. Regression analysis showed a significant dependency of CSP width on BPD (CSP width = 0.658 + (0.064 × BPD), r = 0.781, P < 0.0001; both parameters in mm). The mean CSP width increased from 3.2 to 7.1 mm for BPD values of 40 to 100 mm, respectively. In the groups of fetuses with trisomy 21, 18 and 13, mean CSP width was 5.7 (range, 2.8-10.5), 7.9 (range, 3.5-12.8) and 5.8 (range, 4.0-9.0) mm, respectively. In 42.0% of the fetuses with trisomy 21, CSP width was above the 95(th) centile. In trisomy 18 and 13, CSP width was above the 95(th) centile in 92.0% and 37.5% of cases, respectively. CONCLUSION: A large CSP width should prompt a detailed ultrasound examination to further assess the risk for chromosomal abnormalities.

Prefrontal space ratio in second- and third-trimester screening for trisomy 21.

OBJECTIVE: To evaluate the prefrontal space ratio (PFSR) in second- and third-trimester euploid fetuses and fetuses with trisomy 21. METHODS: This was a retrospective study utilizing stored mid-sagittal two-dimensional images of second- and third-trimester fetal faces that were recorded during prenatal ultrasound examinations at the Department of Prenatal Medicine at the University of Tuebingen, Germany and at a private center for prenatal medicine in Nuremberg, Germany. For the normal range, 279 euploid pregnancies between 15 and 40 weeks' gestation were included. The results were compared with 91 cases with trisomy 21 between 15 and 40 weeks. For the ratio measurement, a line was drawn between the leading edge of the mandible and the maxilla (MM line) and extended in front of the forehead. The ratio of the distance between the leading edge of the skull and the leading edge of the skin (d1) to the distance between the skin and the point where the MM line was intercepted (d2) was calculated. The PFSR was determined by dividing d2 by d1. RESULTS: In the euploid and trisomy 21 groups, the median gestational age at the time of ultrasound examination was 21.1 (range, 15.0-40.0) and 21.4 (range, 15.0-40.3) weeks, respectively. Multiple regression analysis showed that PFSR was independent of maternal and gestational age. In the euploid group, the mean PFSR was 0.97 ± 0.29. In fetuses with trisomy 21, the mean PFSR was 0.2 ± 0.38 (P < 0.0001). The PFSR was below the 5(th) centile in 14 (5.0%) euploid fetuses and in 72 (79.1%) fetuses with trisomy 21. CONCLUSION: The PFSR is a simple and effective marker in second- and third-trimester screening for trisomy 21.