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Isolated Cleft Lip and Palate: Maxillary Gap Sign and Palatino-Maxillary Diameter at 11-13 Weeks
Robert Lachmann1,2,3, Uwe Schilling4,5, Detlef Brückmann6
1Fetal Medicine Centre/fetalmedicinecentre.de, Dresden, Germanyrobert.lachmann@fetalmedicinecentre.de.
Insights
Early ultrasound markers can identify isolated cleft lip and palate (CLP) in the first trimester. The palatino-maxillary diameter (PMD) measurement shows promise for diagnosing CLP at 11-13 weeks gestation.
Area of Science:
- Prenatal diagnosis
- Fetal medicine
- Medical imaging
Background:
- Isolated cleft lip and palate (CLP) is a common congenital anomaly.
- Early diagnosis of CLP can facilitate timely intervention and management.
- First-trimester ultrasound offers a window for early fetal anomaly detection.
Purpose of the Study:
- To evaluate the maxillary gap sign for first-trimester diagnosis of isolated CLP.
- To identify reliable ultrasound markers for isolated cleft lip and palate (CLP) detection at 11-13 weeks gestation.
- To assess the utility of the palatino-maxillary diameter (PMD) in diagnosing isolated CLP.
Main Methods:
- Prospective study of 1,087 fetuses, including 5 with isolated CLP, scanned at 11-13 weeks.
- Evaluation of intra- and interobserver variability for the maxillary gap sign.
- Measurement of palatino-maxillary diameter (PMD) in fetuses with and without isolated CLP.
Main Results:
- Prospective detection of 5 out of 6 isolated CLP cases using midsagittal view abnormalities.
- High reproducibility for maxillary gap sign, with 2 cases being doubtful.
- Palatino-maxillary diameter (PMD) was below the 5th percentile in 80% of isolated CLP cases.
Conclusions:
- The midsagittal view demonstrates high reproducibility for detecting abnormal maxillary gap sign.
- Abnormalities in the midsagittal view of the fetal head, face, and brain are common in isolated CLP.
- The palatino-maxillary diameter (PMD) is a measurable abnormality in most fetuses with isolated CLP at 11-13 weeks.
Objective:
To evaluate the maxillary gap sign and describe markers for the first-trimester diagnosis of isolated cleft lip and palate (CLP) at 11-13 weeks.
Methods:
Firstly, this was a prospective assessment of 1,087 fetuses including 5 cases of isolated CLP in 2 centers which were referred for the 11-13 weeks scan. Secondly, intra- and interobserver variability of the maxillary gap sign was evaluated for observers R.L. and A.B. in 2 sessions (affected cases vs. 50 normal fetuses in each session) to reduce the bias of different ultrasound manufacturer visualizations (Philips, GE). Thirdly, the palatino-maxillary diameter (PMD) was examined in stored images, DICOM loops and volumes of the midsagittal and parasagittal view of the fetal head and brain at 11+0-13+6 weeks of gestation from 5 fetuses with isolated CLP and 302 consecutively assessed normal controls. The PMD values in fetuses with isolated CLP and normal controls were compared.
Results:
Firstly, 5 out of 6 referred pregnancies with isolated CLP were detected prospectively using the midsagittal view for measurement of nuchal translucency due to an abnormal appearance. One out of 6 patients with isolated CLP declined the 11-13 weeks scan. Secondly, intra- and interobserver variability showed no false positive cases; all cases with isolated CLP were identified by both sonographers; however, in 2 cases the maxillary gap sign was doubtful. Therefore, thirdly, we developed the PMD measurement which increased significantly with crown-rump length (CRL) from respective mean values at CRL of 45 mm to 4.66 mm and to 8.95 mm at CRL of 84 mm. In the CLP group, the PMD was below the 5th percentile of the control group in 4 out of 5 (80%) cases.
Conclusions:
The midsagittal view for measurement of nuchal translucency shows a high reproducibility regarding abnormal views for maxillary gap sign. In the midsagittal view of the fetal head, face, and brain at 11-13 weeks, the majority of fetuses with isolated CLP have a measurable abnormality in addition, the PMD.
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