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. 2022 Jul 26:15:87-95.
doi: 10.2147/TACG.S364543. eCollection 2022.

Utility of Measuring Fetal Cavum Septum Pellucidum (CSP) Width During Routine Obstetrical Ultrasound for Improving Diagnosis of 22q11.2 Deletion Syndrome: A Case-Control Study

Christy L Pylypjuk  1 , Shiza F Memon  2 , Bernard N Chodirker  3
Affiliations

Utility of Measuring Fetal Cavum Septum Pellucidum (CSP) Width During Routine Obstetrical Ultrasound for Improving Diagnosis of 22q11.2 Deletion Syndrome: A Case-Control Study

Christy L Pylypjuk et al. Appl Clin Genet. .

Abstract

Objective: To evaluate the utility of measuring fetal cavum septum pellucidum (CSP) width during routine, mid-pregnancy ultrasound for improving diagnosis of 22q11.2 deletion syndrome amongst fetuses with and without conotruncal anomalies.

Patients and methods: This was a retrospective case-control study (2005-2016). Fetuses and newborns with 22q11.2 deletion and/or conotruncal cardiac anomalies were identified using a regional, clinical database. A control group was assembled in a 2:1 ratio to create three groups for comparison: i) 22q11.2 deletion syndrome; ii) isolated conotruncal anomalies; and iii) controls. Eligibility was restricted to those with stored ultrasound images between 18-22 weeks' gestation and a minimum biparietal diameter of 40 mm. Post-processing measurement of CSP width was performed in a standardized fashion by two blinded and independent study personnel. Descriptive and inferential statistics, regression modeling, and receiver operator curves (ROC) were used to compare outcomes between groups and evaluate sensitivity/specificity of CSP width as a marker of 22q11.2 deletion syndrome.

Results: Twenty-nine cases of 22q11.2 deletion and 64 cases of isolated conotruncal anomalies were matched to 186 healthy controls. Cases with 22q11.2 deletion syndrome had significantly larger CSP widths (5.36 mm; SD=1.2) compared to those with isolated conotruncal anomalies (3.75 mm; SD=1.11) and healthy controls (2.93 mm; SD=0.57; p<0.0001). There was no difference in CSP width amongst those with 22q11.2 deletion irrespective of the presence/absence of a conotruncal anomaly (p=0.362), or by type of conotruncal anomaly (p=0.211). Using a CSP width cutoff >4.3 mm, fetuses with 22q11.2 deletion can be accurately identified with good sensitivity (89.7%) and specificity (84%).

Conclusion: Fetuses with 22q11.2 deletion syndrome have dilated CSPs when compared to those with isolated conotruncal anomalies or controls. Because CSP dilation can be evaluated during routine mid-pregnancy ultrasound using standard images of the fetal head, measurement could easily be incorporated to enhance prenatal diagnosis of this phenotypically diverse condition.

Keywords: 22q11 microdeletion; DiGeorge syndrome; cavum septum pellucidum; fetal ultrasound; neurosonography; prenatal diagnosis.

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Conflict of interest statement

The authors report no conflicts of interest in this work. Dr. Christy Pylypjuk has received grants from the Manitoba Medical Services Foundation and Children’s Hospital Research Institute of Manitoba, Health Sciences Centre Foundation, University of Manitoba, and the Winnipeg Foundation Martha Donovan Women’s Leadership Award, as well as transportation and lodging to speak at the annual conference of the Society of Obstetricians and Gynecologists of Canada (no direct payments were received), outside of the submitted work.

Figures

Figure 1
Figure 1
Fetal cavum septum pellucidum (CSP) with caliper measurements (in yellow) at 20 week ultrasound.
Figure 2
Figure 2
Flow diagram of study subjects.
Figure 3
Figure 3
Box-and-whisker plot comparison of median CSP width between groups.
Figure 4
Figure 4
Subgroup comparison of median CSP width with box-and-whisker plots.
Figure 5
Figure 5
ROC curve modeled to represent the diagnostic accuracy of CSP width for 22q11.2 deletion syndrome.
See this image and copyright information in PMC

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