NCT04047433

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

• Status: Completed
• Phase: N/A
• Study type: Interventional
• Enrollment: 93 (actual)
• Sponsor: HaEmek Medical Center, Israel · Academic / Other
• Sex: Female
• Age: 18 Years – 60 Years
• Healthy volunteers: Accepted

Summary

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

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.

Conditions

• Delivery, Obstetric

Interventions

Type	Name	Description
GENETIC	screening for single nucleotide polymorphism	samples from both arms will be tested for a set of single nucleotide polymorphism
GENETIC	whole exome sequencing	samples from arm #1 (women with external anal sphincter) will be tested for identifying specific genetic mutation

Timeline

• Start date: 2020-09-04
• Primary completion: 2023-10-05
• Completion: 2023-10-05
• First posted: 2019-08-06
• Last updated: 2025-03-26

Locations

1 site across 1 country: Israel