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Fetal forearm anomalies: prenatal diagnosis, associations and management strategy
Eva Pajkrt1, Simona Cicero, David R Griffin
1Academic Medical Centre, Amsterdam, The Netherlands.
Insights
Forearm anomalies in fetuses are often linked to chromosomal or genetic syndromes, especially when bilateral. Isolated unilateral defects typically indicate a good prognosis, guiding prenatal diagnosis and counseling.
Area of Science:
- Prenatal diagnosis
- Fetal medicine
- Medical genetics
Background:
- Forearm anomalies, including absent, short, or abnormal radius and/or ulna, require thorough investigation.
- Understanding associated conditions is crucial for accurate prenatal diagnosis and management.
Purpose of the Study:
- To identify underlying conditions associated with fetal forearm anomalies.
- To develop a management strategy for improved prenatal diagnosis and parental counseling.
Main Methods:
- Retrospective review of fetal medicine unit records.
- Inclusion of cases with radius and/or ulna anomalies, excluding generalized skeletal dysplasias.
- Analysis of fetal medicine, maternal, neonatal, and histopathological reports.
Main Results:
- Sixty-six cases were reviewed; 64 included in analysis.
- Chromosomal anomalies (29.7%) and genetic syndromes (29.7%) were common associations.
- Bilateral lesions correlated with higher aneuploidy/syndrome incidence; isolated unilateral defects had low associated pathology.
- A correct prenatal diagnosis was achieved in 70% of cases.
Conclusions:
- Bilateral forearm defects and unilateral lesions with other prenatal abnormalities suggest high risk of aneuploidy and genetic syndromes.
- Isolated unilateral forearm defects generally have a favorable prognosis.
- A management strategy aids in accurate prenatal diagnosis and counseling for forearm anomalies.
Objective:
To determine the underlying associations in fetuses with forearm anomalies, and to derive a management strategy to improve prenatal diagnosis and parental counselling.
Methods:
A retrospective review of fetal medicine unit records to identify all cases with an absent, short or abnormal radius and/or ulna. Cases with a generalised skeletal dysplasia were excluded. Fetal medicine, maternal, neonatal and, where appropriate, histopathological reports, were reviewed.
Results:
Sixty-six cases were identified. Two were lost to follow-up and subsequently omitted. Chromosomal anomalies accounted for 19 cases (29.7%), genetic syndromes for 19 (29.7%) and isolated forearm defects for 15 cases (23%). A definitive postnatal diagnosis was made in 54 cases (84%). In 45 of the 64 (70%) cases, a correct prenatal diagnosis was made. Cases with bilateral lesions had a significantly higher association with aneuploidy and genetic syndromes, while those with a sonographically isolated unilateral forearm defect had a very low incidence of other underlying pathology.
Conclusion:
Fetuses with bilateral forearm defects or those with unilateral lesions and other abnormalities detected prenatally have a high incidence of aneuploidy and genetic syndromes. Isolated, unilateral lesions usually have a good prognosis. A management strategy is presented to aid accurate prenatal diagnosis and parental counselling.
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