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Enlarged cavum septi pellucidi Z-scores in fetuses with trisomy 18
Xue Zhou1, Mei-Fang Lin2, Li-Hong Wu2
1Department of Ultrasonic Medicine, Guangzhou Women and Children's Medical Center, Guangzhou, Guangdong, China.
Insights
New formulas for fetal cavum septi pellucidi (CSP) width Z-scores aid in diagnosing 18-trisomy syndrome. Enlarged CSP width Z-scores are a potential new marker for prenatal diagnosis.
Area of Science:
- Prenatal diagnosis
- Fetal medicine
- Genetics
Background:
- The cavum septi pellucidi (CSP) is a midline brain structure routinely visualized during fetal ultrasound.
- Abnormalities in CSP development can be associated with various fetal conditions, including chromosomal abnormalities.
- Accurate measurement and interpretation of fetal CSP dimensions are crucial for prenatal assessment.
Purpose of the Study:
- To develop a formula for calculating fetal cavum septi pellucidi (CSP) width Z-scores based on gestational age.
- To compare CSP width between normal fetuses and those with trisomy 18 (Edwards syndrome).
- To evaluate the utility of CSP width Z-scores as a potential marker for prenatal diagnosis of trisomy 18.
Main Methods:
- Retrospective analysis of 608 normal fetuses and 71 fetuses with trisomy 18.
- Calculation of CSP width Z-scores using regression analysis to establish normal reference ranges.
- Comparison of CSP width Z-scores between normal and trisomy 18 groups using the Mann-Whitney U test.
Main Results:
- Formulas for calculating CSP width Z-scores were successfully established.
- Normal fetal CSP width showed a significant correlation with gestational age (R² = 0.50, p < .01).
- Fetuses with trisomy 18 demonstrated significantly enlarged CSP width and Z-scores (p < .01), with 69% showing enlarged measurements.
Conclusions:
- Established CSP width Z-score formulas provide a quantitative tool for prenatal diagnosis of trisomy 18.
- Enlarged CSP width Z-score can serve as a novel prenatal diagnostic marker for 18-trisomy syndrome.
- This quantitative approach enhances the accuracy of identifying fetuses at risk for trisomy 18.
Objective:
We aim to establish a formula calculating the fetal cavum septi pellucidi (CSP) width Z-scores and compare CSP width between the normal fetus and 18-trisomy fetus.
Methods:
In this retrospective study, 608 normal fetuses and 71 fetuses with the 18-trisomy syndrome were included. Z-scores were calculated after the acquisition of CSP images. Normal CSP width Z-scores formulae were constructed based on gestational age (GA) by performing a standard regression analysis followed by weighted regression of absolute residual values. Subsequently, the Mann-Whitney U test was used to compare the CSP width Z-scores between normal and 18-trisomy groups.
Results:
Formulae calculating CSP width Z-scores were constructed. Normal fetal CSP width was significantly correlated with GA (R2 = 0.50, p < .01). In 18-trisomy group, 69% (34/49) fetuses displayed enlarged fetal CSP width and CSP width Z-scores (p < .01).
Conclusions:
The CSP width Z-scores formulae established in the current study can provide a quantitative basis for the prenatal diagnosis of 18-trisomy syndrome. Enlarged CSP width Z-score may serve as a novel prenatal diagnostic marker for the 18-trisomy syndrome.
