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Prenatal detection of facial clefts
Insights
Routine anomaly scans detect 50% of isolated cleft lip and/or palate cases, with cleft lip detection at 70% but no isolated cleft palate detection. Even isolated cleft lip increases chromosomal abnormality risk, highlighting the need for prenatal support.
Area of Science:
- Medical Imaging
- Prenatal Diagnosis
- Genetics
Background:
- Cleft lip and/or palate are common congenital anomalies.
- Antenatal detection rates for isolated clefts vary.
- Associated anomalies, particularly chromosomal abnormalities, can occur.
Purpose of the Study:
- Determine antenatal detection rates for isolated cleft lip and/or palate via routine anomaly scans.
- Correlate prenatal diagnosis with postnatal findings.
- Assess the association of isolated clefts with other anomalies, including chromosomal abnormalities.
Main Methods:
- Population-based retrospective analysis.
- 8-year study period in a UK academic teaching hospital.
- Review of isolated cleft lip and/or cleft palate cases.
Main Results:
- 14 of 39 isolated cleft lip and/or palate cases were detected prenatally (50% sensitivity).
- Cleft lip detection rate was 70% (14/20), while isolated cleft palate detection was 0%.
- One isolated cleft lip case had trisomy 21; 3 isolated cleft palate cases had Pierre Robin syndrome. Specificity was 100%.
Conclusions:
- Ultrasound is effective for screening cleft lip with or without palate, but not for isolated cleft palate.
- Isolated cleft lip carries an increased risk of chromosomal abnormalities.
- Prenatal education and support are crucial for parental preparation and managing unexpected birth diagnoses.
Objectives:
To determine (1) the antenatal detection rate for isolated cleft lip and/or cleft palate during the routine anomaly scan; (2) the correlation between prenatal diagnosis and postnatal findings, and (3) the association of apparently isolated cleft lip and/or cleft palate with other anomalies, in particular chromosomal abnormalities.
Method:
A population-based retrospective analysis of all cases of isolated cleft lip and/or cleft during an 8-year period in an academic teaching hospital in the UK.
Results:
Thirty-nine cases of isolated cleft lip and/or cleft palate were identified among deliveries at the hospital. Twenty-eight cases had a routine anomaly scan. Fourteen cases were detected prenatally (sensitivity 50%). None of the isolated cleft palates was detected, while 14 of 20 cases of cleft lip (70%) were detected. One of the isolated cases of cleft lip was associated with trisomy 21, while 3 of the isolated cleft palate cases were associated with the Pierre Robin syndrome. In all cases, an antenatal diagnosis of cleft was confirmed following delivery or post-mortem examination (specificity 100%).
Conclusions:
Ultrasound is a useful tool in screening for cleft lip with or without cleft palate, but not for cleft palate alone. Even with an isolated cleft lip, there is an increased risk of chromosomal abnormality. The role of prenatal education and support is extremely important in the preparation of prospective parents and can help alleviate the shock which occurs when there is an unexpected cleft at birth.