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

Not Applicable

Completed

• Conditions: Delivery, Obstetric
• Interventions: Genetic: screening for single nucleotide polymorphism; Genetic: whole exome sequencing

• Registration Number: NCT04047433
• Lead Sponsor: HaEmek Medical Center, Israel

Brief 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.

Study Timeline

• Study First Submitted: 2019-08-02
• Study First Submitted QC: 2019-08-05
• Study First Posted: 2019-08-06
• Study Start: 2020-09-04
• Primary Completion: 2023-10-05
• Study Completion: 2023-10-05
• Status Verified: 2025-03
• Last Update Submitted: 2025-03-22
• Last Update Posted: 2025-03-26

Recruitment & Eligibility

• Status: COMPLETED
• Sex: Female
• Target Recruitment: 93

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)

Study & Design

• Study Type: INTERVENTIONAL
• Study Design: PARALLEL

Arm && Interventions

Group	Intervention	Description
women with external anal sphincter injury	whole exome sequencing	The study cohort will be composed of women undergoing vaginal delivery and diagnosed with external anal sphincter injury after a vaginal delivery.
women with external anal sphincter injury	screening for single nucleotide polymorphism	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	screening for single nucleotide polymorphism	The control group will be women who had a vaginal delivery without any clinically apparent perineal laceration

Primary Outcome Measures

Name	Time	Method
difference in the frequency of of Single-nucleotide polymorphisms	through study completion, an average of 2 years	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.

Secondary Outcome Measures

Name	Time	Method
genetic mutation	through study completion, an average of 2 years	specific genetic mutation among women with external anal sphincter injury that occurs during vaginal delivery

Trial Locations

Locations (1)

Haemek Medical Center; 🇮🇱 Afula, Israel