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Published on: August 25, 2019
Early prenatal diagnosis of skeletal anomalies
Asma Khalil1, Eva Pajkrt, Lyn S Chitty
1University College Hospitals London NHS Foundation Trust, London, UK.
Insights
Early prenatal diagnosis of skeletal dysplasias is possible, but accurate identification often requires a family history or specific conditions. Postnatal examinations are crucial for definitive diagnosis and recurrence risk assessment.
Area of Science:
- Medical Genetics
- Prenatal Diagnosis
- Skeletal Biology
Background:
- Skeletal dysplasias are a heterogeneous group of genetic disorders affecting bone and cartilage development.
- Early and accurate prenatal diagnosis is crucial for genetic counseling and management planning.
- Advances in first-trimester screening offer opportunities for earlier detection.
Purpose of the Study:
- To review the experience of early prenatal diagnosis of skeletal dysplasias.
- To evaluate the diagnostic accuracy of early prenatal detection methods.
- To identify strategies for improving the management of skeletal dysplasias.
Main Methods:
- Retrospective review of fetal medicine unit (FMU) records for suspected skeletal dysplasias by 14 weeks' gestation.
- Literature review to identify cases diagnosed in the late first or early second trimester.
- Analysis of presenting features and diagnostic outcomes.
Main Results:
- Fifteen cases with ten different skeletal dysplasias were identified from FMU records.
- Accurate prenatal diagnosis was achieved primarily in cases with a positive family history or specific conditions like thanatophoric dysplasia and Roberts syndrome.
- Common early presenting features included short femora, abnormal skull shape, and chest abnormalities. Increased nuchal translucency was also noted.
Conclusions:
- Increased use of first-trimester screening will lead to earlier detection of skeletal dysplasias.
- Accurate diagnosis and recurrence risk prediction often necessitate detailed postnatal pathological and radiological examinations.
- Informing parents about the diagnostic process and follow-up is essential.
Objective:
To review experience of early prenatal diagnosis of skeletal dysplasias, and to explore diagnostic accuracy and improve management.
Methods:
A retrospective review of fetal medicine unit (FMU) records was performed to identify cases where a skeletal dysplasia was suspected by 14 weeks' gestation. A literature review was undertaken to ascertain cases with a diagnosis of a skeletal dysplasia in the late first or early second trimester.
Results:
Fifteen cases were identified from review of FMU records, including ten different dysplasias with a variety of inheritance patterns. Accurate prenatal diagnosis was made only in cases with a positive family history, and in one case each of thanatophoric dysplasia and Roberts syndrome. Review of the literature identified further cases. Increased nuchal translucency was reported in other cases subsequently diagnosed as having a skeletal dysplasia. In early pregnancy, common presenting features included short femora, abnormal skull shape and mineralisation, profile or chest.
Conclusion:
Increasing use of first-trimester combined screening for Down's syndrome, with or without detailed anomaly scanning, will result in early detection of more skeletal dysplasias. Parents must be made aware that detailed postnatal pathological and radiological examination is usually required for accurate diagnosis and prediction of recurrence risks.
