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

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.

Study Overview

• Status: Completed
• Conditions: Delivery, Obstetric
• Intervention / Treatment: Genetic: screening for single nucleotide polymorphism; Genetic: whole exome sequencing

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 Type: Interventional
• Enrollment (Actual): 93
• Phase: Not Applicable

Contacts and Locations

• Study Contact: Name: eyal rom, MD; Phone Number: 972546747434; Email: eyal_rom@hotmail.com
• Study Contact Backup: Name: Hedi Raischer; Email: hedi_re@clalit.org.il

Study Locations

• Israel
  • Afula, Israel
    • Haemek Medical Center

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years to 60 years (Adult)
• Accepts Healthy Volunteers: Yes

Description

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 Plan

How is the study designed?

Design Details

• Primary Purpose: Screening
• Allocation: Non-Randomized
• Interventional Model: Parallel Assignment
• Masking: None (Open Label)

Number of Arms

2

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Experimental: women with external anal sphincter injury; 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; 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
Experimental: women without external anal sphincter injury; The control group will be women who had a vaginal delivery without any clinically apparent perineal laceration	Genetic: screening for single nucleotide polymorphism; samples from both arms will be tested for a set of single nucleotide polymorphism

What is the study measuring?

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

Collaborators and Investigators

• Sponsor: HaEmek Medical Center, Israel
• Investigators: Principal Investigator: Hedi Raischer, MD, Haemek Medical Center

Study record dates

Study Major Dates

• Study Start (Actual): September 4, 2020
• Primary Completion (Actual): October 5, 2023
• Study Completion (Actual): October 5, 2023

Study Registration Dates

• First Submitted: August 2, 2019
• First Submitted That Met QC Criteria: August 5, 2019
• First Posted (Actual): August 6, 2019

Study Record Updates

• Last Update Posted (Actual): February 28, 2024
• Last Update Submitted That Met QC Criteria: February 26, 2024
• Last Verified: February 1, 2024

More Information

Terms related to this study

• Other Study ID Numbers: 0091-18-EMC

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No