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PubMed This is a summary of 21 peer-reviewed journal articles Updated
Reproductive Endocrinology · Autosomal Dominant Alzheimer Disease

Planning Your Family: Reproductive Options and ADAD

At a Glance

Families affected by Autosomal Dominant Alzheimer Disease (ADAD) can use IVF and Preimplantation Genetic Testing (PGT-M) to have children without the mutation. Non-disclosure testing even allows you to protect future generations without ever learning your own genetic status.

If you or your partner carry a mutation for Autosomal Dominant Alzheimer Disease (ADAD), you may worry about passing this condition to your children. It is important to know that you have medical options to ensure that future generations do not inherit the mutation. By using advanced reproductive technologies, you can break the cycle of the disease in your family [1][2].

Preimplantation Genetic Testing (PGT-M)

The most common path for ADAD families is Preimplantation Genetic Testing for Monogenic Disorders (PGT-M). This process is done in combination with In Vitro Fertilization (IVF) [1].

  1. The Setup: Geneticists create a custom “probe” or map for your family. This often requires DNA samples from you, your partner, and sometimes your parents or an affected sibling to accurately track the mutation [3][4].
  2. Egg Retrieval and Fertilization: Following a standard IVF cycle, eggs are retrieved and fertilized in a lab to create embryos.
  3. The Biopsy: When the embryos reach about five days old (the blastocyst stage), a few cells are carefully removed from the outer layer (the trophectoderm) [5][6].
  4. Genetic Analysis: The lab uses the custom probe to identify which embryos carry the ADAD mutation and which do not [7][8].
  5. Transfer: Only embryos that do not carry the mutation are selected to be transferred into the uterus [1].

Success rates for PGT-M are generally comparable to standard IVF, with the best outcomes typically seen when the person providing the eggs is under age 35 [9][10].

Protecting Your “Right Not to Know” (Exclusion Testing)

One of the most empowering aspects of modern fertility care is non-disclosure testing (also called exclusion testing) [11]. This allows you to have a child free of the ADAD mutation without ever learning if you carry the mutation yourself.

In this scenario, the lab does not look directly at your adult DNA for the specific mutation. Instead, they look at your embryos to see which ones inherited a genetic “neighborhood” from your affected grandparent versus your unaffected grandparent [8][12]. Only embryos from the “safe” grandparent’s lineage are transferred. This process requires extremely careful coordination between your fertility clinic and the genetic lab to ensure your adult genetic status is never revealed to you [11][13].

Testing During Pregnancy

If a pregnancy has already begun, there are two primary “invasive” options for testing the fetus for the ADAD mutation [14]:

  • Chorionic Villus Sampling (CVS): Typically performed between 10 and 13 weeks of pregnancy. A small sample of placenta tissue is taken [14][15].
  • Amniocentesis: Typically performed after 15 weeks. A small sample of the amniotic fluid surrounding the baby is collected [14][16].

Both procedures are considered very safe, with a risk of miscarriage estimated at less than 0.2% when performed by experienced specialists [17][18].

Planning for the Future

Reproductive planning for ADAD is a complex journey that involves legal, ethical, and financial considerations [19][20].

  • Timeline: Building a custom PGT-M probe can take several months before you can even begin an IVF cycle. Early consultation is key [3].
  • Cost and Financial Support: PGT-M and IVF are expensive, often costing tens of thousands of dollars out-of-pocket. However, do not let the sticker price stop you from exploring this option. Ask your clinic to speak with a financial counselor to explore insurance coverage, and look into specialized fertility grants designed for patients with genetic diseases [19].
  • Genetic Counseling: It is highly recommended that you work with a genetic counselor who specializes in assisted reproductive technology (ART) to help you navigate these choices [21][11].

Common questions in this guide

What is PGT-M and how does it prevent ADAD?
PGT-M stands for Preimplantation Genetic Testing for Monogenic Disorders. During an IVF cycle, a lab tests the embryos to identify which ones carry the ADAD mutation, allowing doctors to only transfer embryos that are free of the disease to the uterus.
Can I use IVF for ADAD without finding out if I have the gene?
Yes, through a process called non-disclosure or exclusion testing. The lab screens embryos by looking at genetic markers from your grandparents, allowing you to have a child free of the mutation while keeping your own genetic status completely private.
What DNA samples are needed before starting IVF for ADAD?
To build a custom genetic probe, the lab will need DNA samples from you and your partner. They will also often need samples from your parents or an affected sibling to accurately track the ADAD mutation in your family line.
Can I test for the ADAD gene if I am already pregnant?
Yes, if a pregnancy has already started, there are safe prenatal testing options. Chorionic villus sampling (CVS) is typically performed between 10 and 13 weeks, while amniocentesis is usually done after 15 weeks of pregnancy.
How much does IVF and genetic testing cost?
IVF with PGT-M can be expensive, often costing tens of thousands of dollars out-of-pocket. It is highly recommended to speak with a fertility clinic's financial counselor to explore insurance coverage and specialized grants for patients with genetic diseases.

Questions to Ask Your Doctor

Curated prompts to bring to your next appointment.

  1. 1.Does your clinic have specific experience with 'exclusion testing' or 'non-disclosure' PGT-M for neurodegenerative diseases?
  2. 2.How do you handle the lab coordination to ensure that my genetic status is not inadvertently revealed to me during the IVF process?
  3. 3.What DNA samples will you need from my family members to build the custom genetic probe (linkage analysis)?
  4. 4.What is the estimated timeline from our first consultation to the first possible embryo transfer?
  5. 5.What are the total estimated out-of-pocket costs for an IVF cycle with PGT-M at this facility?

Questions For You

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References

References (21)
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    Public Awareness and Acceptability of PGT-M in Cancer Predisposition Syndromes.

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    Genes 2023; (14(11)) doi:10.3390/genes14112069.

    PMID: 38003012
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    Preimplantation Genetic Testing for Monogenic Kidney Disease.

    Snoek R, Stokman MF, Lichtenbelt KD, et al.

    Clinical journal of the American Society of Nephrology : CJASN 2020; (15(9)):1279-1286 doi:10.2215/CJN.03550320.

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    Combined Preimplantation Genetic Testing for Genetic Kidney Disease: Genetic Risk Identification, Assisted Reproductive Cycle, and Pregnancy Outcome Analysis.

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    Frontiers in medicine 2022; (9()):936578 doi:10.3389/fmed.2022.936578.

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    Application of the PGT-M strategy using single sperm and/or affected embryos as probands for linkage analysis in males with hereditary tumor syndromes without family history.

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    Journal of human genetics 2023; (68(12)):813-821 doi:10.1038/s10038-023-01188-4.

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    A Successful Case for Deselection of Albino Embryo and Live Birth of Albinism-Free Healthy Baby Followed by PGT-M.

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    Robust Preimplantation Genetic Testing Strategy for Myotonic Dystrophy Type 1 by Bidirectional Triplet-Primed Polymerase Chain Reaction Combined With Multi-microsatellite Haplotyping Following Whole-Genome Amplification.

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    IVF success rates in individuals accessing preimplantation genetic testing for monogenic conditions (PGT-M): a single centre retrospective cohort study of 572 IVF cycles.

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    Use of preimplantation genetic testing for monogenic defects (PGT-M) for adult-onset conditions: an Ethics Committee opinion.

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This page provides educational information about family planning and genetic testing for ADAD. Always consult with a genetic counselor and reproductive specialist to determine the best fertility options for your specific situation.

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