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Skeletal Dysplasia: A Case Report.

Nicolae Gică1,2, Gabriela Mîrza2, Corina Gică1,2

  • 1Gynecology Department, Faculty of Medicine, Carol Davila University of Medicine and Pharmacy, 020021 Bucharest, Romania.

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Summary

This study details a rare case of fetal hydrops and severe skeletal dysplasia diagnosed at 23 weeks gestation. Advanced genetic testing is crucial for diagnosing these complex genetic disorders.

Keywords:
hydropshypomineralizationmicromeliaskeletal dysplasia

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Area of Science:

  • Medical Genetics
  • Prenatal Diagnosis
  • Skeletal Dysplasias

Background:

  • Skeletal dysplasias are a group of genetic disorders affecting bone development, with a prevalence of 1 in 4000 births.
  • These conditions have a wide spectrum of severity, leading to high rates of stillbirth and neonatal mortality.
  • Accurate prenatal diagnosis is challenging due to overlapping clinical presentations and the vast number of identified genetic entities.

Purpose of the Study:

  • To report a rare case of severe skeletal dysplasia with fetal hydrops diagnosed early in gestation.
  • To emphasize the importance of advanced genetic testing in diagnosing skeletal dysplasias.
  • To highlight the diagnostic challenges and implications for genetic counseling and pregnancy management.

Main Methods:

  • Case report of a 22-year-old woman's first pregnancy.
  • Fetal ultrasound at 23 weeks gestation revealing severe anomalies.
  • Discussion on the role of next-generation sequencing (NGS) and whole-genome sequencing (WGS) in diagnosis.

Main Results:

  • Detection of fetal hydrops and severe skeletal anomalies, including craniofacial and thoracic deformities.
  • Suspected diagnosis of Achondrogenesis type IA, a lethal autosomal recessive skeletal dysplasia.
  • Identification of the need for advanced genetic analysis for definitive diagnosis.

Conclusions:

  • Early prenatal diagnosis of skeletal dysplasia is critical for accurate genetic counseling and management.
  • Advanced genetic testing, including NGS and WGS, significantly improves diagnostic accuracy for skeletal dysplasias.
  • This case underscores the complexity and severity of certain skeletal dysplasias diagnosed in early pregnancy.