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[Prenatal ultrasound diagnosis of children with dysmelia]
M Thomsen1, J Gnirs, C Carstens
1Sektion Kinderorthopädie, Abteilung Orthopädie I der Stiftung Orthopädische Universitätsklinik Heidelberg.
Insights
Prenatal ultrasonography in Germany rarely diagnoses fetal limb deficiencies, despite its routine use. Early diagnosis is crucial for planning treatment and discussing consequences with parents.
Area of Science:
- Medical Imaging
- Prenatal Diagnosis
- Pediatric Orthopedics
Background:
- Prenatal ultrasonography has been a routine screening method in Germany since 1979.
- Standard examinations include assessments of the fetal head, thorax, and femur.
Purpose of the Study:
- To evaluate the effectiveness of early prenatal diagnosis for fetal limb deficiencies.
- To understand the consequences of antenatal detection of limb abnormalities.
Main Methods:
- A retrospective analysis of 403 children with limb deficiencies (1989-1994).
- Questionnaires were sent to parents of 196 children with major limb deficiencies; 134 were analyzed.
- Maternal and paternal ages were recorded.
Main Results:
- Limb deficiencies affected 61 upper limbs, 61 lower limbs, and 12 combined.
- Mothers underwent an average of 5.6 prenatal ultrasounds.
- Antenatal diagnosis of limb deficiency occurred in only 5.2% of cases.
Conclusions:
- Women with unclear findings should be referred to specialized prenatal diagnostic centers.
- Multidisciplinary consultations (obstetrician, geneticist, orthopedist) are recommended for planning treatment and discussing outcomes for limb deficiencies.
Unlabelled:
Since 1979 prenatal ultrasonography is a screening method in Germany. The examination of head, thorax and femur is now established as a routine method.
Aim Of The Study:
The evaluation of the effectiveness and the consequences of an early prenatal diagnosis of foetal limb deficiencies.
Method:
From 1989-1994 we had 403 children with 207 minor or 196 major limb deficiencies. Questionnaires were sent to those 196 parents of children with major diseases 134 cases (68%) of children with limb deficiencies could be analysed. The average age of the mother at birth was 27.5 years and the age of the father was 30.5 years.
Results:
61 children had deficiencies of the upper limb. another 61 of the lower limbs and 12 had combined defects of the limbs. The mothers had 5.6 (1-15) prenatal ultrasounds examinations. In 63% (n = 82) these were performed by the obstetric practitioners, in 30% in departments of obstetrics and 7% in a university hospital. In 5.2% only, the limb deficiency was diagnosed antenataly.
Conclusion:
If there are any unclear findings the women should be sent to a centre of prenatal diagnostics. In cases of congenital deficiencies of the limbs there is the possibility] for the parents to combined to combined consultation of the obstetrician, the human genetic and the orthopaedic to plan the treatment and talk about all consequences.