z-logo
open-access-imgOpen Access
Ehlers–Danlos syndrome and other heritable connective tissue disorders that impact pregnancies can be detected using next-generation DNA sequencing
Author(s) -
Krystal VanderJagt,
Merlin G. Butler
Publication year - 2019
Publication title -
archives of gynecology and obstetrics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.793
H-Index - 68
eISSN - 1432-0711
pISSN - 0932-0067
DOI - 10.1007/s00404-019-05226-5
Subject(s) - ehlers–danlos syndrome , medicine , connective tissue , joint hypermobility , bioinformatics , genetic testing , pathology , biology , physical therapy
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.

The content you want is available to Zendy users.

Already have an account? Click here to sign in.
Having issues? You can contact us here