Rare female infertility due to an implantation defect

Last reviewed

🖨 Print for my doctorAdvocacy Hub →
ORPHA:399882
Who is this for?
Show terms as
1Active trials8Treatment centers

Where are you in your journey?

UniteRare data is sourced from FDA.gov, ClinicalTrials.gov, Orphanet, OMIM, and NORD.
Report missing data

Overview

Rare female infertility due to an implantation defect is a condition in which a woman's body is unable to allow a fertilized egg (embryo) to properly attach to the lining of the uterus (called the endometrium). Implantation is a critical early step in pregnancy — after an egg is fertilized, it must travel to the uterus and embed itself into the uterine lining to continue developing. When this process fails repeatedly, pregnancy cannot be established or maintained, even though the woman may ovulate normally and produce healthy eggs. Women with this condition typically experience unexplained infertility or recurrent implantation failure after in vitro fertilization (IVF) procedures. They may have normal hormone levels, regular menstrual cycles, and no obvious structural problems with the uterus, making the diagnosis particularly frustrating. The underlying cause can involve genetic factors that affect how the uterine lining develops, how it communicates with the embryo, or how immune and molecular signals coordinate the implantation window. Treatment options are currently limited and largely experimental. Assisted reproductive technologies such as IVF remain the primary approach, sometimes combined with medications to improve endometrial receptivity. Research into the genetic and molecular basis of implantation defects is ongoing, and some patients may benefit from personalized approaches based on their specific genetic findings. However, there is no universally effective cure, and many women face a long and emotionally difficult journey toward achieving pregnancy.

Key symptoms:

Inability to become pregnant despite normal ovulationRepeated failure of embryo implantation during IVFRecurrent early pregnancy lossUnexplained infertilityNormal menstrual cycles but no successful pregnanciesThin or abnormal uterine lining during fertility evaluationsRepeated negative pregnancy tests despite embryo transfer

Inheritance

Variable

Can be inherited in different ways depending on the underlying gene

Age of Onset

Adult

Begins in adulthood (age 18 or older)

Orphanet ↗NORD ↗

FDA & Trial Timeline

1 event
Jan 2024International Non-selection Study for ERA® Test in Patients With Previous Implantation Failures

Igenomix

TrialACTIVE NOT RECRUITING

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

Treatments

No FDA-approved treatments are currently listed for Rare female infertility due to an implantation defect.

1 clinical trialare actively recruiting — trials can provide access to cutting-edge therapies.

View clinical trials →

Clinical Trials

1 recruitingView all trials with filters →
Other1 trial
International Non-selection Study for ERA® Test in Patients With Previous Implantation Failures
Active
PI: Maria Ruiz, MSc (Igenomix) · Sites: Buenos Aires, Buenos Aires; Panama City +6 more · Age: 1841 yrs

No specialists are currently listed for Rare female infertility due to an implantation defect.

View NORD Rare Disease Centers ↗Undiagnosed Disease Network ↗

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Rare female infertility due to an implantation defect.

Search all travel grants →NORD Financial Assistance ↗

Community

Open Rare female infertility due to an implantation defectForum →

No community posts yet. Be the first to share your experience with Rare female infertility due to an implantation defect.

Start the conversation →

Latest news about Rare female infertility due to an implantation defect

No recent news articles for Rare female infertility due to an implantation defect.

Follow this condition to be notified when news becomes available.

Caregiver Resources

NORD Caregiver Resources

Support, advocacy, and financial assistance for caregivers of rare disease patients.

Mental Health Support

Rare disease caregiving can be isolating. Connect with counseling and peer support.

Family & Caregiver Grants

Financial assistance programs specifically for caregivers of rare disease patients.

Social Security Disability

Learn how rare disease patients may qualify for SSDI/SSI benefits.

Questions for your doctor

Bring these to your next appointment

  • Q1.What specific tests can determine why embryos are not implanting in my uterus?,Would genetic testing help identify a cause for my implantation failures?,Are there any treatments that could improve my endometrial receptivity?,Should I consider an Endometrial Receptivity Analysis (ERA) test?,How many more IVF cycles would you recommend before considering other options?,Would gestational surrogacy be an appropriate option for me?,Are there any clinical trials or new treatments I should know about?

Common questions about Rare female infertility due to an implantation defect

What is Rare female infertility due to an implantation defect?

Rare female infertility due to an implantation defect is a condition in which a woman's body is unable to allow a fertilized egg (embryo) to properly attach to the lining of the uterus (called the endometrium). Implantation is a critical early step in pregnancy — after an egg is fertilized, it must travel to the uterus and embed itself into the uterine lining to continue developing. When this process fails repeatedly, pregnancy cannot be established or maintained, even though the woman may ovulate normally and produce healthy eggs. Women with this condition typically experience unexplained in

At what age does Rare female infertility due to an implantation defect typically begin?

Typical onset of Rare female infertility due to an implantation defect is adult. Age of onset can vary across affected individuals.

Are there clinical trials for Rare female infertility due to an implantation defect?

Yes — 1 recruiting clinical trial is currently listed for Rare female infertility due to an implantation defect on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.