The Occurrence of Single Nucleotide Polymorphism Among Women Who Experienced Obstetric Anal Sphincter Injury

Study Overview
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Brief Summary
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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.

Detailed Description
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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.

Official Title
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The Occurrence of Single Nucleotide Polymorphism Among Women Who Experienced Obstetric Anal Sphincter Injury

Conditions
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Delivery, Obstetric

Intervention / Treatment
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* Genetic: screening for single nucleotide polymorphism
* Genetic: whole exome sequencing


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Women with severe external anal sphincter injury during first vaginal delivery Healthy women undergoing vaginal delivery without any clinically apparent perineal laceration Exclusion Criteria: Women with known metabolic or connective-tissue disorder (e.g., Ehlers-Danlos syndrome). Women with known neurologic disorder Women undergoing episiotomy cut or assisted delivery (e.g., vacuum or forceps delivery)

Ages Eligible for Study
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Minimum Age: 18 Years
Maximum Age: 60 Years

Sexes Eligible for Study
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Female

Accepts Healthy Volunteers
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Accepts Healthy Volunteers

Study Plan
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How is the study designed?
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Design Details

Primary Purpose: Screening
Allocation: Non-Randomized
Intervention Model: Parallel Assignment
Interventional Model Description: two arms - with external anal sphincter injury without injury both will go through genetic screening test the arm with the external anal sphincter injury will also be tested for advanced genetic testing
Masking: None (Open Label)


Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Experimental: women with external anal sphincter injury<br>The study cohort will be composed of women undergoing vaginal delivery and diagnosed with external anal sphincter injury after a vaginal delivery. | Genetic: screening for single nucleotide polymorphism<br>* samples from both arms will be tested for a set of single nucleotide polymorphism<br>Genetic: whole exome sequencing<br>* samples from arm #1 (women with external anal sphincter) will be tested for identifying specific genetic mutation<br>|
| Experimental: women without external anal sphincter injury<br>The control group will be women who had a vaginal delivery without any clinically apparent perineal laceration | Genetic: screening for single nucleotide polymorphism<br>* samples from both arms will be tested for a set of single nucleotide polymorphism<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | 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 | 

Secondary Outcome Measures

| Outcome Measure | 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 |