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Single-nucleotide polymorphisms (SNP's) in connective tissue components are associated with increased risk of pelvic organ prolapse (POP). The investigators expect to find a difference in SNP's frequency between women who had Obstetric anal sphincter injuries (OASIS) and in the healthy population. The fact that pelvic organ prolapse (POP) and OASIS occurs in the same anatomic region and the well-known association between few SNP's and the risk for POP, suggests for a common pathophysiology.
The perineum consists of skin, muscles and connective tissue. A connective tissue disorder related to POP has been reported in biochemical and molecular studies. OASIS are considered a severe complication of vaginal delivery that may lead to a great deal of morbidity. Familial history is known as a risk factor for OASIS. Currently, there is no established genetic link between connective tissue components and OASIS. Therefore, the investigators assume that studying the genetic predisposition factors of women who experience OASIS, might generate a stronger tool to predict severe occurrence of vaginal laceration. It may also help to consult women before vaginal delivery about the risk of OASIS.
The aim of this study is to find an association between genetic variation and increased risk for OASIS.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| women with external anal sphincter injury | Experimental | The study cohort will be composed of women undergoing vaginal delivery and diagnosed with external anal sphincter injury after a vaginal delivery. |
|
| women without external anal sphincter injury | Experimental | The control group will be women who had a vaginal delivery without any clinically apparent perineal laceration |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| screening for single nucleotide polymorphism | Genetic | samples from both arms will be tested for a set of single nucleotide polymorphism |
|
| Measure | Description | Time Frame |
|---|---|---|
| difference in the frequency of of Single-nucleotide polymorphisms | difference in the relative frequency of Single-nucleotide polymorphisms between women with external anal sphincter injury that occurs during vaginal delivery and those without it. | through study completion, an average of 2 years |
| Measure | Description | Time Frame |
|---|---|---|
| genetic mutation | specific genetic mutation among women with external anal sphincter injury that occurs during vaginal delivery | through study completion, an average of 2 years |
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Inclusion Criteria:
Exclusion Criteria:
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| Name | Affiliation | Role |
|---|---|---|
| Hedi Raischer, MD | haemek medical center | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Haemek Medical Center | Afula | Israel | Israel |
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| ID | Term |
|---|---|
| D008403 | Mass Screening |
| D020641 | Polymorphism, Single Nucleotide |
| D000073359 | Exome Sequencing |
| ID | Term |
|---|---|
| D019937 | Diagnostic Techniques and Procedures |
| D003933 | Diagnosis |
| D006306 | Health Surveys |
| D011795 | Surveys and Questionnaires |
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two arms -
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| whole exome sequencing | Genetic | samples from arm #1 (women with external anal sphincter) will be tested for identifying specific genetic mutation |
|
| D003625 | Data Collection |
| D004812 | Epidemiologic Methods |
| D008919 | Investigative Techniques |
| D003954 | Diagnostic Services |
| D011314 | Preventive Health Services |
| D006296 | Health Services |
| D005159 | Health Care Facilities Workforce and Services |
| D017531 | Health Care Evaluation Mechanisms |
| D011787 | Quality of Health Care |
| D017530 | Health Care Quality, Access, and Evaluation |
| D011634 | Public Health |
| D004778 | Environment and Public Health |
| D015980 | Public Health Practice |
| D011110 | Polymorphism, Genetic |
| D014644 | Genetic Variation |
| D055614 | Genetic Phenomena |
| D000073336 | Whole Genome Sequencing |
| D017422 | Sequence Analysis, DNA |
| D017421 | Sequence Analysis |
| D005821 | Genetic Techniques |