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

HaEmek Medical Center, Israel93 enrolled

Overview

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.

Study Type

INTERVENTIONAL

Allocation

NON_RANDOMIZED

Purpose

SCREENING

Masking

NONE

Enrollment

Conditions

Delivery, Obstetric

Interventions

screening for single nucleotide polymorphismGENETIC

samples from both arms will be tested for a set of single nucleotide polymorphism

whole exome sequencingGENETIC

samples from arm #1 (women with external anal sphincter) will be tested for identifying specific genetic mutation

Eligibility

Sex: FEMALEMin age: 18 YearsMax age: 60 YearsHealthy volunteers:

Medical Language ↔ Plain English

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)

Locations (1)

Haemek Medical Center

Afula, Israel, Israel

Outcomes

Primary Outcomes

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.

Time frame: through study completion, an average of 2 years

Secondary Outcomes

genetic mutation

specific genetic mutation among women with external anal sphincter injury that occurs during vaginal delivery

Time frame: through study completion, an average of 2 years

Data from ClinicalTrials.gov

This platform is for informational purposes only and does not constitute medical advice. Always consult a qualified healthcare professional.