[Prenatal diagnosis of upper limb reduction deficiencies]
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1Centre de diagnostic prénatal, hôpital d'Enfants de La Timone, 223, rue Saint-Pierre, 13385 Marseille cedex 5, France. potier.a@wanadoo.fr
Insights
Prenatal ultrasonography effectively screens for fetal upper limb anomalies, aiding early diagnosis and genetic counseling. Advanced imaging like 3D ultrasound and MDCT enhance detection and prognosis.
Area of Science:
- Medical Imaging
- Prenatal Diagnosis
- Fetal Medicine
Background:
- Ultrasonography is crucial for prenatal morphological screening.
- Upper limb examination is a routine part of French prenatal care since 2005.
- Focus has shifted towards early detection of limb reduction anomalies.
Purpose of the Study:
- To highlight the role of ultrasonography in detecting fetal upper limb malformations.
- To emphasize the importance of early diagnosis for genetic counseling and surgical referral.
- To discuss the utility of advanced imaging techniques.
Main Methods:
- Routine first-trimester ultrasound scans for upper limb assessment.
- Detection of transversal and longitudinal anomalies.
- Utilizing 3D ultrasound and multi-detector computed tomography (MDCT) for improved diagnosis.
Main Results:
- Upper limb segments are visible in the first trimester, allowing early detection of transversal anomalies.
- Ultrasound aids in identifying associated malformations indicative of genetic syndromes.
- Advanced imaging techniques like 3D ultrasound and MDCT improve diagnostic accuracy.
Conclusions:
- Early detection of upper limb anomalies via ultrasound is feasible and impacts prenatal care.
- Identifying associated malformations is essential for genetic counseling and surgical planning.
- 3D ultrasound and MDCT offer enhanced diagnostic capabilities and prognostic information.
Abstract:
Ultrasonography has become an indispensable tool in prenatal care providing a throughout screening of the morphological abnormalities of the foetus. The examination of the upper limbs is now part of a routine screening checklist available in France since 2005. Recent progress in past years has focused on the early detection of reductional anomalies. As early as the first trimester scan, the three segments of the upper limb are apparent and transversal anomalies can be easily detected. Early diagnosis of malformations may lead to ethical considerations since women may request for medical termination of pregnancy. Apart from transversal anomalies of the limb which remain most of the time accidental, genetic syndromes may also lead to longitudinal reductions of the upper limb. In such cases, ultrasound may be helpful in genetic counselling by detecting other associate malformations. The search for associate malformations in favour of a genetic syndrome is therefore mandatory before referral to a prenatal consultation with the surgeon. Three-dimensional ultrasound and multi detector computed tomography (MDCT) are being increasingly used as additional procedures to improve diagnosis and long-term prognosis.
