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Congenital Limb Defects: A Retrospective Cohort Study and Overview of the Literature
Kathrin Oelmeier1, Ralf Schmitz1, Izabela Dera2
1Department of Gynecology and Obstetrics, University Hospital Munster, Munster, Germany.
Insights
Congenital limb defects in fetuses often indicate other genetic disorders. Early prenatal ultrasound visualization of all extremities is crucial for timely detection and management of these complex conditions.
Area of Science:
- Fetal Medicine
- Prenatal Diagnosis
- Medical Genetics
Background:
- Congenital limb defects are frequent fetal malformations.
- These defects are frequently linked to other organ abnormalities and genetic syndromes.
- Prenatal detection and classification of limb defects pose significant challenges.
Purpose of the Study:
- To characterize a large cohort of fetuses diagnosed with congenital limb defects.
- To identify key features for effective prenatal evaluation, counseling, and management.
- To enhance understanding of limb malformations in the prenatal period.
Main Methods:
- Retrospective cohort study of fetal limb defects from 2001-2021.
- Exclusion of cases with skeletal dysplasia.
- Statistical analysis of demographic data, genetic associations, and maternal parameters.
Main Results:
- 170 fetuses were analyzed, with 60% showing reduction anomalies and 40% duplication anomalies.
- The majority of affected fetuses were male.
- Additional malformations were identified in 73.5% of cases, with trisomy 13 and 18 being the most frequent genetic causes.
Conclusions:
- Congenital limb malformations serve as critical indicators of complex fetal disorders.
- Referral to specialists in prenatal ultrasound is essential for affected cases.
- Thorough visualization of fetal extremities in early pregnancy is recommended to improve prenatal detection rates.
Purpose:
Congenital limb defects are common malformations that are often associated with other organ defects and genetic disorders. Since prenatal detection is challenging and classification is often complex, the aim of this study was to describe a large cohort of fetuses with congenital limb defects and to identify characteristics that are essential for prenatal evaluation, counselling, and management.
Materials And Methods:
In this retrospective cohort study, all cases of confirmed fetal limb defects from two centers for prenatal ultrasound between 2001 and 2021 were evaluated. Cases with skeletal dysplasia were excluded from this study. Demographic data, association with genetic disorders, and correlation with maternal parameters were analyzed statistically.
Results:
170 fetuses were included in this study. 60% were diagnosed with a reduction anomaly and 40% with a duplication anomaly. The majority of fetuses were male, and in 73.5% of all cases, additional malformations were present. Among the genetic causes, trisomy 13 and 18 were the most common in this cohort.
Conclusion:
Congenital limb malformations are important markers for complex fetal disorders that warrant referral to specialists in prenatal ultrasound. To improve prenatal detection, care should be taken to visualize all fetal extremities already in early pregnancy.
