Female infertility due to an implantation defect of genetic origin

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ORPHA:400025
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1Active trials8Treatment centers

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Overview

Female infertility due to an implantation defect of genetic origin is a rare reproductive 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 — without it, even a healthy embryo cannot develop. In this condition, the problem is rooted in genetic changes that affect how the uterine lining prepares for and interacts with the embryo. Women with this condition typically have normal ovulation and can produce healthy eggs, but pregnancies fail to establish because the embryo cannot implant successfully. Symptoms are not always obvious beyond the inability to become pregnant or repeated very early pregnancy losses. Many women may go through multiple failed cycles of in vitro fertilization (IVF) before this diagnosis is considered. The condition can be emotionally and physically exhausting, as standard fertility treatments may not address the underlying genetic cause. The treatment landscape is still evolving. Currently, there is no specific cure that corrects the genetic defect. Management focuses on assisted reproductive technologies, sometimes with modifications to improve endometrial receptivity, such as hormonal protocols or experimental therapies. Research into the genetic basis of implantation failure is ongoing, and genetic testing may help identify the specific cause in some families. Counseling with a reproductive geneticist can help affected women understand their options.

Key symptoms:

Inability to become pregnant despite normal ovulationRepeated failure of embryo implantation during IVFRecurrent very early pregnancy loss (before a pregnancy is clinically detected)Normal menstrual cycles but no successful pregnanciesUnexplained infertility after thorough standard workupThin or abnormal uterine lining despite hormonal treatmentMultiple failed embryo transfers with good-quality embryos

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
Aug 2024Investigate the Efficacy of Using NMN to Improve Embryo Development Capacity.

Sunkaky Medical Cooperation — NA

TrialRECRUITING

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

Treatments

No FDA-approved treatments are currently listed for Female infertility due to an implantation defect of genetic origin.

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

View clinical trials →

Clinical Trials

1 recruitingView all trials with filters →
N/A1 trial
Investigate the Efficacy of Using NMN to Improve Embryo Development Capacity.
N/A
Actively Recruiting
PI: Yoshiharu M., Yoshiharu Morimoto, MD, PhD (Sankaky Medical Corporation) · Sites: Osaka, Osaka · Age: 3242 yrs

No specialists are currently listed for Female infertility due to an implantation defect of genetic origin.

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 Female infertility due to an implantation defect of genetic origin.

Search all travel grants →NORD Financial Assistance ↗

Community

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Latest news about Female infertility due to an implantation defect of genetic origin

1 articles
Clinical trialCLINICALTRIALSApr 15, 2026
Trial Now Recruiting: IntelliWell: An AI-Assisted Imaging Platform for Detection and Location of Ultra-Rare Testicular Sperm in Surgical Specimens (NCT07074015)
Researchers are testing a new AI-powered tool called IntelliWell that can find sperm cells in testicular tissue samples that appeared to have no sperm when chec
See all news about Female infertility due to an implantation defect of genetic origin

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Questions for your doctor

Bring these to your next appointment

  • Q1.What specific genetic tests should I have to identify the cause of my implantation failures?,Are there any modified IVF protocols that might improve my chances of successful implantation?,Would endometrial receptivity testing (like the ERA test) be helpful in my case?,Are there any clinical trials or experimental treatments available for genetic implantation defects?,Should my family members be tested for the same genetic changes?,Is gestational surrogacy a realistic option for me, and would my eggs still be usable?,Can you recommend a genetic counselor who specializes in reproductive genetics?

Common questions about Female infertility due to an implantation defect of genetic origin

What is Female infertility due to an implantation defect of genetic origin?

Female infertility due to an implantation defect of genetic origin is a rare reproductive 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 — without it, even a healthy embryo cannot develop. In this condition, the problem is rooted in genetic changes that affect how the uterine lining prepares for and interacts with the embryo. Women with this condition typically have normal ovulation and can produce healthy eggs, but pregnancies fail to esta

At what age does Female infertility due to an implantation defect of genetic origin typically begin?

Typical onset of Female infertility due to an implantation defect of genetic origin is adult. Age of onset can vary across affected individuals.

Are there clinical trials for Female infertility due to an implantation defect of genetic origin?

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