Study on the Association Between SXCI and RM and the Possible Genetic Mechanism

NCT ID: NCT02504281

Last Updated: 2022-04-11

Basic Information

• Recruitment Status: COMPLETED
• Total Enrollment: 257 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2015-01-31
• Study Completion Date: 2021-12-31

Brief Summary

To determine whether there is higher incidence of skewed X chromosome inactivation(SXCI) in the recurrent miscarriage(RM) population compared with normal population, and verify the existing hypothesis of the possible genetic mechanisms underlying the association between SXCI and RM.

Detailed Description

Recurrent spontaneous abortion (RSA), defined as 2 or more consecutive pregnancy losses before 20-22 weeks of gestation, is a multifactorial disorder that affects about 5% of all couples.In up to 50% of women who have experienced RSA, the cause still remains unexplained, with genetic problem proposed as a main cause. X chromosome inactivation (XCI) is a physiological phenomenon in female mammals for 'dosage compensation' of X-linked genes with males. A normal female is mosaic, with about one-half of her somatic cells expressing the paternal derived X and the remainder of her cells using maternal X. In some situations, however, the inactivation is not random, resulting in a female having most or even all her somatic cells inactivating the same X chromosome from either paternal or maternal resource, which is known as skewed X-chromosome inactivation (SXCI).Evidence of an association between skewed X chromosome inactivation (SXCI) and idiopathic recurrent spontaneous abortion (RSA) is conflicting. This is a single-center observational case-control trial to determine whether there is higher incidence of skewed X chromosome inactivation(SXCI) in the recurrent miscarriage(RM) population compared with normal population, and verify the existing hypothesis of the possible genetic mechanisms underlying the association between SXCI and RM.

Conditions

Infertility Female; Recurrent Miscarriage

Study Design

• Observational Model Type: CASE_CONTROL
• Study Time Perspective: PROSPECTIVE

Study Groups

RM

Women 18-43 years of age who are scheduled for IVF or ICSI with a history of recurrent spontaneous abortion (miscarriage occurred earlier than 22 weeks of gestation for equal or greater than 3 times) in our IVF institute.

No interventions assigned to this group

Control

Normal females who are visiting Shanghai JIAI genetics and IVF institute for IVF/ICSI because of only male factor.

No interventions assigned to this group

Eligibility Criteria

Inclusion Criteria

• 1) regular menstrual cycles and normal level of E2, P, FSH, LH, T, RPL in the early follicular phase; 2) no history of gynecologic or other pelvic operations; 3) no history of hormone medicine application in the last 3 months; 4) no history of poison contact; 5) normal uterine and adnexal ultrasonography; 6) TORCH(-), chlamydia(-), mycoplasma(-), normal leucorrhoea routine, anti-phospholipid antibody (-), antinuclear antibody(-); 7) for the couple, no blood type incompatibility or ABO antibody IgG≤1：64 and normal blood chromosome analysis; 8) condoms are used for contraception.

Exclusion Criteria

• 1) BMI<18.5 or >24.9; 2) hydrosalpinx without operation; endometriosis; polycystic ovary syndrome; adenomyosis; uterine leiomyomata(submucous myoma or non-submucous myoma which size was exceed 4cm and/or with the compressed endometrium);uterine cavity lesions(such as uterine malformation, intrauterine adhesions, the septate uterus, endometritis etc); 3) the former abortion is because of luteal phase defect without treatment; 4) FSH≥12IU/L or AMH<1.2ng/ml 5) thyroid dysfunction or increased CA125 level; 6) acute inflammation of genitourinary system or STD carriers; 7) unable to comply with the study procedures.

• Minimum Eligible Age: 18 Years
• Maximum Eligible Age: 43 Years
• Eligible Sex: FEMALE
• Accepts Healthy Volunteers: Yes

Sponsors

ShangHai Ji Ai Genetics & IVF Institute

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Principal Investigators

XIAOXI SUN, MD

Role: STUDY_DIRECTOR

ShangHai Ji Ai Genetics & IVF Institute

Locations

Shanghai Jiai Genetics&IVF Institute

Shanghai, , China

Countries

China

References

Sui Y, Fu J, Zhang S, Li L, Sun X. Investigation of the role of X chromosome inactivation and androgen receptor CAG repeat polymorphisms in patients with recurrent pregnancy loss: a prospective case-control study. BMC Pregnancy Childbirth. 2022 Nov 2;22(1):805. doi: 10.1186/s12884-022-05113-z.

Reference Type: DERIVED

PMID: 36324098 (View on PubMed)

Other Identifiers

JIAI E2015-02

Identifier Type: -

Identifier Source: org_study_id