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

HaEmek Medical Center, Israel

Status: Completed

Conditions: Delivery, Obstetric

Treatments: Genetic: whole exome sequencing; Genetic: screening for single nucleotide polymorphism

Study type: Interventional

Funder types: Other

Identifiers

NCT04047433

0091-18-EMC

Details and patient eligibility

About

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.

Full 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.

Enrollment: 93 patients

Sex: Female

Ages: 18 to 60 years old

Volunteers: Accepts Healthy Volunteers

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)

Trial design

Primary purpose: Screening

Allocation: Non-Randomized

Interventional model: Parallel Assignment

Masking: None (Open label)

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93 participants in 2 patient groups

women with external anal sphincter injury

Experimental group

Description:

The study cohort will be composed of women undergoing vaginal delivery and diagnosed with external anal sphincter injury after a vaginal delivery.

Treatment:

Genetic: screening for single nucleotide polymorphism

Genetic: whole exome sequencing

women without external anal sphincter injury

Experimental group

Description:

The control group will be women who had a vaginal delivery without any clinically apparent perineal laceration

Treatment:

Genetic: screening for single nucleotide polymorphism