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Additional post-natal diagnoses following antenatal diagnosis of isolated cleft lip +/− palate
Insights
Antenatal diagnosis of isolated cleft lip with or without palate (CLP) may reveal unexpected major anomalies or developmental delays in some children. Lip-only clefting showed no major additional diagnoses.
Area of Science:
- Medical Genetics
- Pediatric Surgery
- Developmental Pediatrics
Background:
- Cleft lip with or without palate (CLP) is diagnosable via antenatal ultrasound.
- CLP can be isolated or associated with other malformations.
- Limited data exist on long-term outcomes for antenatally diagnosed isolated CLP.
Purpose of the Study:
- To examine long-term post-natal outcomes of antenatally isolated CLP.
- To determine rates of unexpected anomalies, developmental delay, or genetic syndromes.
- To provide data for improved genetic counseling and clinical management.
Main Methods:
- Retrospective chart review of antenatal and post-natal records.
- Study period: January 2000 to December 2009.
- Inclusion criteria: Antenatally detected isolated CLP with at least 2 years of post-natal follow-up.
Main Results:
- 97 cases of antenatally isolated CLP identified; 15 pregnancies terminated.
- Follow-up data available for 77 liveborns.
- 12 children (15.6%) had major malformations/developmental disabilities (e.g., trisomy 21, autism spectrum disorders, Kabuki syndrome).
- 11 children (14.3%) had minor anomalies.
- No major additional diagnoses in children with cleft lip only.
Conclusions:
- Antenatally isolated CLP requires thorough post-natal evaluation for associated conditions.
- Genetic syndromes and developmental issues can manifest later in pregnancy or post-natally.
- Isolated cleft lip cases appear to have better prognoses regarding major associated diagnoses.
Introduction:
Cleft lip with or without palate (CLP) can be diagnosed antenatally through ultrasound, and may be categorised as apparently isolated versus associated with other malformations. Limited data exist on the long-term outcomes following antenatal diagnosis of apparently isolated CLP.
Aim:
This study examined the long-term post-natal outcomes of CLP when found in isolation antenatally, in order to determine the rates of unexpected additional anomalies, developmental delay or genetic syndromes.
Patients And Methods:
A retrospective chart review of antenatal and post-natal medical charts was completed for a ten-year period between January 2000 and December 2009. At least 2 years of available post-natal clinical information was required for inclusion in the study.
Results:
A total of 97 cases of antenatally isolated CLP were ascertained. Fifteen pregnancies were terminated. Follow-up data were available for 81 liveborns, though 4 were lost to follow-up prior to 2 years of age. Twelve of the 77 children meeting study criteria were identified to have other major malformations and/or developmental disability either later in the pregnancy or post-natally. Findings included familial clefting syndromes, trisomy 21, autism spectrum disorders, brain malformations, fetal alcohol syndrome and Kabuki syndrome, among other findings. Another 11 children had additional anomalies of minor impact. Examples of findings include a perimembranous ventricular septal defect, mild unilateral optic nerve hypoplasia, mild pulmonary artery stenosis with a small atrial septal defect, and transient delays in fine and gross motor skills. No children with clefting of the lip only had major additional diagnoses.
