Pregnancy in women with Alström Syndrome is uncommon but possible. Because of cardiac, metabolic, endocrine, and obstetric considerations, planning matters enormously. This workbook walks through pre-conception, each trimester, and postpartum, with checklists and worksheets to organize what's a high-risk but achievable journey.

This is for women living with Alström who are considering or planning pregnancy. Partners and care teams will use this alongside.

Realistic context

Several factors limit pregnancy in women with Alström:

  • Hypogonadism affects fertility for many
  • PCOS-pattern features common
  • Type 2 diabetes complicates conception
  • Cardiomyopathy creates real cardiac risk during pregnancy

Despite these, women with Alström have had successful pregnancies. Outcomes are best with thorough planning and a multidisciplinary care team.¹

This workbook isn't a guarantee anything is right or possible — it's preparation for the path if you're choosing to take it.

Phase 1 — Pre-conception (6-12 months before trying)

Pre-conception checklist

Medical evaluation:

  • ☐ Comprehensive cardiac evaluation
  • Echocardiogram with detailed assessment - EKG, possibly cardiac MRI - Cardiopulmonary exercise testing if indicated - Cardiologist consultation specifically about pregnancy risk
  • ☐ Comprehensive endocrine evaluation
  • HbA1c (target <6.5–7% pre-pregnancy) - Fasting insulin, glucose, lipids - Thyroid function - Hormonal evaluation
  • ☐ Kidney function (creatinine, eGFR, urinalysis with protein)
  • ☐ Liver function tests, abdominal ultrasound
  • ☐ Sleep study if indicated; CPAP optimization
  • ☐ Vision baseline
  • ☐ Hearing baseline

Medications review: Many Alström medications need to change before pregnancy:

  • ☐ ACE inhibitors / ARBs — STOP (teratogenic)
  • ☐ Sacubitril/valsartan — STOP
  • ☐ Statins — typically discontinued
  • ☐ SGLT2 inhibitors — discontinued
  • ☐ GLP-1 agonists — typically discontinued
  • ☐ Switch to pregnancy-safe antihypertensives if needed
  • ☐ Optimize insulin regimen
  • ☐ Continue thyroid medication; doses often need increase

Genetic counseling:

  • ☐ Meeting with genetic counselor
  • ☐ Discussion of inheritance (your child will be a carrier; if your partner is also a carrier, 25% chance affected)
  • ☐ Partner carrier testing
  • ☐ Discussion of prenatal testing options (CVS, amniocentesis, PGD)
  • ☐ Discussion of family planning preferences

Multidisciplinary preconception consultation: Ideally a single coordinated visit:

  • ☐ High-risk obstetrics (maternal-fetal medicine)
  • ☐ Cardiology
  • ☐ Endocrinology
  • ☐ Genetics
  • ☐ Nephrology / hepatology if relevant
  • ☐ Mental health

Lifestyle:

  • ☐ Nutrition optimization with registered dietitian
  • ☐ Regular physical activity within cardiac limits
  • ☐ Folic acid 400 mcg–800 mcg daily (or higher per provider recommendation)
  • ☐ Adequate sleep (CPAP if needed)
  • ☐ Mental health support active
  • ☐ Stop smoking if applicable
  • ☐ Limit/stop alcohol

Pre-conception worksheet

═══════════════════════════════════════════════════════════════
  PRE-CONCEPTION SUMMARY

  Date completed: _____________________________
  Years on care team: _________________________

  CARDIAC STATUS:
  Most recent EF: _________ %
  Assessed pregnancy risk by cardiologist:
   ☐ Low ☐ Moderate ☐ High ☐ Pregnancy not recommended
  Cardiologist's specific guidance:
  __________________________________________________________

  ENDOCRINE STATUS:
  HbA1c: _______ (target: ____ )
  Insulin regimen: _________________________________________
  Other diabetes medications:
  Lipids:
   Triglycerides: _______
   LDL: _______ HDL: _______

  OTHER ORGAN STATUS:
  Kidney (eGFR): _________
  Liver: _____________
  Sleep apnea / CPAP: ____________________

  MEDICATION CHANGES MADE FOR PREGNANCY:
  Stopped: __________________________________________________
  Started: __________________________________________________

  GENETIC COUNSELING COMPLETED: ☐ Yes  Date: ____________
  Partner carrier status: ☐ Confirmed non-carrier
                          ☐ Confirmed carrier
                          ☐ Not yet tested

  FAMILY PLANNING DECISION:
  ☐ Natural conception with prenatal testing
  ☐ Natural conception without prenatal testing
  ☐ PGD/IVF
  ☐ Other: ________________________________________________

  CARE TEAM ASSEMBLED FOR PREGNANCY:
  High-risk OB: ____________________________________________
  Cardiology: _____________________________________________
  Endocrinology: __________________________________________
  Genetics: ______________________________________________

═══════════════════════════════════════════════════════════════

Phase 2 — First trimester (weeks 1–13)

First trimester checklist

Confirming pregnancy:

  • ☐ Positive home pregnancy test
  • ☐ Notify primary OB or high-risk OB
  • ☐ Notify cardiology, endocrinology
  • ☐ Update entire care team
  • ☐ First OB appointment (typically 8–10 weeks)

Medication optimization:

  • ☐ Confirm pregnancy-safe medications in place
  • ☐ Insulin requirements may decrease in first trimester (counterintuitive but real)
  • ☐ Anti-nausea medication if needed (Diclegis is pregnancy-category A)
  • ☐ Continue folic acid; usually transition to prenatal vitamin
  • ☐ Iron, calcium, vitamin D as needed

Cardiac monitoring:

  • ☐ Baseline echocardiogram early in pregnancy
  • ☐ Cardiology visit by 12 weeks
  • ☐ Plan for monthly cardiology visits

Other surveillance:

  • ☐ Comprehensive labs at first OB visit
  • ☐ Diabetes monitoring intensification
  • ☐ Thyroid recheck (may need dose increase)
  • ☐ Pre-pregnancy weight documented; weight gain plan made

Genetic testing decisions:

  • ☐ Cell-free DNA / NIPT around 10 weeks (for chromosomal screening)
  • ☐ Decide on CVS (10–13 weeks) if testing for ALMS1
  • ☐ Coordinate with genetics team

Lifestyle adjustments:

  • ☐ Adequate hydration
  • ☐ Activity appropriate for cardiac status
  • ☐ Adequate rest
  • ☐ Mental health support continues
  • ☐ Maintain CPAP

Phase 3 — Second trimester (weeks 14–28)

Second trimester checklist

Increased monitoring:

  • ☐ Monthly OB visits (more often if high-risk)
  • ☐ Monthly cardiology
  • ☐ Monthly to bi-monthly endocrinology
  • ☐ Anatomy ultrasound (18–22 weeks)
  • ☐ Glucose tolerance test or close diabetes monitoring
  • ☐ Amniocentesis (15+ weeks) if testing for ALMS1 and not done via CVS

Medication adjustments:

  • ☐ Insulin requirements typically increasing — may double or triple
  • ☐ Thyroid medication doses often need adjustment
  • ☐ Blood pressure monitoring with adjustment as needed

Cardiac considerations:

  • ☐ Maternal cardiac volume increases — peak around 28 weeks
  • ☐ Watch for symptoms: significant breathlessness, swelling beyond expected
  • ☐ Echo every 4–6 weeks
  • ☐ Activity guidance from cardiology

Planning for delivery:

  • ☐ Discuss delivery setting (specialty hospital with cardiac and high-risk OB)
  • ☐ Discuss vaginal vs. cesarean delivery timing
  • ☐ Plan for anesthesia consultation
  • ☐ Plan for NICU support (preterm risk)

Practical preparation:

  • ☐ Begin nesting / nursery setup adapted for vision needs
  • ☐ Identify support people for postpartum
  • ☐ Plan for older children if applicable
  • ☐ Tour delivery hospital

Second trimester worksheet

═══════════════════════════════════════════════════════════════
  SECOND TRIMESTER REVIEW

  Week of pregnancy: __________
  Current weight: __________  Pre-pregnancy: __________

  CARDIAC:
  Most recent EF: ________%
  Symptoms: ________________________________________________

  DIABETES:
  Recent HbA1c: ________
  Insulin TDD: ________
  CGM time in range: ____%

  BP RANGE: ____________________

  CONCERNING SYMPTOMS NOW:
  __________________________________________________________

  TESTS / VISITS COMING UP:
  __________________________________________________________

═══════════════════════════════════════════════════════════════

Phase 4 — Third trimester (weeks 29 to delivery)

Third trimester checklist

Most intensive monitoring period:

  • ☐ OB visits every 2 weeks → weekly toward end
  • ☐ Cardiology every 2–4 weeks
  • ☐ Endocrinology every 2 weeks
  • ☐ Echo every 2–4 weeks
  • ☐ Non-stress tests / biophysical profiles
  • ☐ Group B Strep screening (35–37 weeks)

Delivery planning:

  • ☐ Birth plan finalized with care team
  • ☐ Delivery hospital confirmed (specialty center)
  • ☐ Anesthesia consult done
  • ☐ NICU team aware
  • ☐ Pediatric / neonatal genetics consulted
  • ☐ Postpartum cardiac plan in place

Cardiac considerations:

  • ☐ Awareness that cardiac decompensation risk peaks late pregnancy and delivery
  • ☐ Specific symptoms to call about
  • ☐ Plan for fluid management during labor

Bag and prep:

  • ☐ Hospital bag includes accessibility items (audio, tactile, etc.)
  • ☐ CPAP / BiPAP equipment for hospital
  • ☐ Diabetes equipment
  • ☐ Medical summary updated

Phase 5 — Delivery and immediate postpartum

Delivery considerations

During labor:

  • ☐ Cardiac monitoring throughout
  • ☐ Anesthesia plan (often epidural to reduce cardiac stress)
  • ☐ Fluid management carefully balanced
  • ☐ Endocrine team monitoring glucose

Mode of delivery:

  • Decision made by team based on cardiac status, obstetric factors
  • Vaginal possible for many; cesarean for others
  • Some patients deliver under cardiac anesthesia protocols

Immediately postpartum:

  • ☐ Immediate postpartum cardiac assessment
  • ☐ Fluid status monitoring (significant fluid shifts after delivery)
  • ☐ Glucose monitoring (insulin needs drop dramatically after delivery)
  • ☐ Cardiac monitoring for 24–72 hours minimum
  • ☐ Support for postpartum hemorrhage risk
  • ☐ Postpartum cardiomyopathy is a recognized complication

Phase 6 — Postpartum recovery (weeks 1–12)

Postpartum checklist

Cardiac:

  • ☐ Postpartum echo at 1 week
  • ☐ Echo at 6 weeks
  • ☐ Cardiology follow-up at 2 weeks, 6 weeks, 12 weeks
  • ☐ Resume pre-pregnancy heart medications appropriate for breastfeeding
  • ☐ Watch for postpartum cardiomyopathy signs

Diabetes:

  • ☐ Insulin needs drop dramatically after placenta delivers — be ready
  • ☐ Resume metformin, GLP-1, etc. per breastfeeding decisions
  • ☐ Frequent glucose monitoring

Mental health:

  • ☐ Postpartum depression screening (elevated risk in any high-risk pregnancy)
  • ☐ Support network active
  • ☐ Therapy / medication as needed

Breastfeeding:

  • ☐ Lactation consultation
  • ☐ Medication review for breastfeeding compatibility
  • ☐ Many medications used in Alström are compatible with breastfeeding; some aren't

Newborn care:

  • ☐ Newborn screening
  • ☐ Pediatric genetics consultation if not done
  • ☐ Cord blood ALMS1 testing if planned
  • ☐ Connection to early intervention if affected

Parental care:

  • ☐ Adequate rest (challenging with newborn)
  • ☐ Help at home — partner, family, paid help if available
  • ☐ Patient organization peer support
  • ☐ Adapted parenting tools for vision/hearing if needed

Specific questions to ask

To cardiology pre-conception:

  • "Based on my current cardiac status, what's the risk to me of pregnancy?"
  • "What's the risk of pregnancy worsening my cardiac function permanently?"
  • "Are there cardiac thresholds where you'd recommend against pregnancy?"
  • "What medications need to change?"
  • "How will we monitor during pregnancy?"

To high-risk OB:

  • "What's your experience with Alström or similar conditions?"
  • "What's your experience with cardiomyopathy in pregnancy?"
  • "What hospitals deliver pregnancies like this?"
  • "How will we coordinate with cardiology and endocrinology?"

To endocrinology:

  • "What's the right HbA1c target before conception?"
  • "How will insulin dosing change?"
  • "Is there anything you'd want to add or change before pregnancy?"
  • "Can I breastfeed on these medications?"

To genetics:

  • "What's the recurrence risk if my partner is a carrier?"
  • "What testing options do we have prenatally?"
  • "What's the timing of testing?"
  • "How do we test the baby after birth?"

Frequently Asked Questions

Is pregnancy possible with Alström?

Yes, for some women with Alström. Decisions depend on cardiac status, fertility, and overall medical situation. Multidisciplinary preconception consultation is essential.

Will my baby have Alström?

Your child will inherit one altered ALMS1 copy from you (so they'll be a carrier). They'll only have Alström if your partner is also a carrier and the baby inherits altered copies from both. With most partners (non-carriers), no children will have Alström.

Can I breastfeed?

Many heart and diabetes medications are compatible with breastfeeding. Some aren't. Your care team reviews specifics.

What if my cardiac status worsens during pregnancy?

It's a real risk. The team monitors closely and intervenes early. In severe cases, delivery may be timed earlier than the natural due date.

Will I need a C-section?

Decisions are individualized. Many women with Alström deliver vaginally with appropriate support. Cardiac status drives the decision.

What about adoption or surrogacy?

Both are valid options when pregnancy isn't right. Patient organizations sometimes know of families who've taken these paths.

Related reading

References

1. Tahani N, et al. Consensus clinical management guidelines for Alström syndrome. Orphanet J Rare Dis. 2020;15(1):253.

2. ACOG Practice Bulletin: Pregnancy and Heart Disease.

This workbook is for informational purposes only and is not a substitute for medical advice. Pregnancy in Alström Syndrome requires specialized multidisciplinary care.