Ehlers–Danlos syndrome and other heritable connective tissue disorders that impact pregnancies can be detected using next-generation DNA sequencing

Abstract

Ehlers–Danlos syndromes (EDS) are a genetically heterogeneous group of inherited connective tissue disorders classified into six major types with a variable collection of findings and different inheritance patterns. Although complications occur in about one-half of pregnancies in women with EDS, the majority can have a good outcome if managed appropriately. Classic EDS is characterized by joint hypermobility, loose skin with poor healing and easy bruising, musculoskeletal problems with chronic pain and at risk for pre-term delivery. In addition, the vascular form of EDS can have cardiac anomalies, aneurysms, gastrointestinal perforation and uterine rupture during pregnancy. Due to overlapping features among the connective tissue disorders, it is difficult to categorize the disorder into specific types without detailed genetic testing which is now available through advanced genomic technology using next-generation DNA sequencing, searching genomic databases and bioinformatics approach. Therefore, obstetrical complications are variable but relate to specific connective tissue disorders requiring an exact diagnosis. There are several dozen genes causing connective tissue disorders that are currently available for testing using next-generation sequencing and bioinformatics to provide pertinent care, treatment and surveillance of the affected pregnant woman but also for her at-risk fetus related to the specific heritable condition.

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Acknowledgements

We thank Charlotte Weber for the excellent preparation of the manuscript.

Funding

This work was supported by National Institute of Child Health and Human Development (NICHD) Grant number HD02528.

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KV: Literature review, manuscript writing and editing. MGB: Manuscript writing and editing.

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Correspondence to Krystal VanderJagt.

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The authors declare that they have no conflict of interest.

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VanderJagt, K., Butler, M.G. Ehlers–Danlos syndrome and other heritable connective tissue disorders that impact pregnancies can be detected using next-generation DNA sequencing. Arch Gynecol Obstet 300, 491–493 (2019). https://doi.org/10.1007/s00404-019-05226-5

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Keywords

  • Connective tissue disorders impacting pregnancies
  • Ehlers–Danlos syndrome and obstetric complications
  • Advanced genomic technology and next generation sequencing
  • Genetic screening