A 27-year-old woman discovered she had a rare genetic condition called DiGeorge syndrome when doctors found she had dangerously low calcium levels during her third trimester of pregnancy. DiGeorge syndrome is caused by a tiny missing piece of DNA that can affect many body systems. Her low calcium was successfully managed with calcium supplements and vitamin D, and she delivered a healthy baby. This case teaches doctors to look for genetic causes when pregnant women have unexplained low calcium levels, especially if they’ve had previous miscarriages. It also shows the importance of continuing to monitor calcium levels after pregnancy, since hormone changes can affect calcium balance.

The Quick Take

  • What they studied: How to recognize and treat low calcium levels in pregnant women, particularly when caused by a genetic condition called DiGeorge syndrome
  • Who participated: One 27-year-old Hispanic woman in her third trimester of pregnancy who had a history of multiple miscarriages and unexplained low calcium levels
  • Key finding: A woman with DiGeorge syndrome (a genetic condition affecting about 1 in 2,000 people) had low calcium during pregnancy that was successfully managed with basic calcium and vitamin D supplements rather than stronger medications
  • What it means for you: If you’re pregnant and have low calcium levels without an obvious cause, doctors should consider genetic testing. This case suggests that simple supplements may work for some patients, but close monitoring is essential. After pregnancy, continued monitoring is important because hormone changes can affect calcium balance.

The Research Details

This is a case report, which means doctors documented the medical story of one patient in detail. The 27-year-old woman came to the hospital in her final months of pregnancy with low calcium levels that had been present for a long time but weren’t causing obvious symptoms. The doctors ran blood tests that showed her parathyroid glands (small glands in the neck that control calcium) weren’t working properly. They then performed genetic testing, which revealed she had DiGeorge syndrome—a condition caused by a missing piece of chromosome 22. The case report describes how the doctors treated her during pregnancy and what happened after delivery.

Case reports are important because they document unusual situations that doctors might not see often. This helps other doctors recognize similar patterns in their own patients. Since hypoparathyroidism (underactive parathyroid glands) during pregnancy is rare, especially from genetic causes, sharing this detailed story helps the medical community learn how to spot and treat it.

This is a single case report, which is the lowest level of scientific evidence. It describes what happened to one person, not a large group. While it provides valuable clinical insights and teaching points, the findings cannot be generalized to all patients with similar conditions. The case is well-documented with blood test results and genetic confirmation, which strengthens its credibility. However, readers should understand that one patient’s experience may not apply to everyone.

What the Results Show

The patient had low blood calcium (hypocalcemia) and low parathyroid hormone levels, which indicated her parathyroid glands weren’t producing enough hormone to regulate calcium. Genetic testing confirmed she had a 22q11.2 microdeletion, the genetic hallmark of DiGeorge syndrome. Interestingly, she had no obvious symptoms of low calcium, such as muscle cramps or tingling, even though her calcium levels were abnormally low. She was treated with moderate doses of cholecalciferol (vitamin D3) and oral calcium supplements. Stronger medications called activated vitamin D analogues were not needed because her body was producing adequate amounts of active vitamin D naturally. With this conservative treatment approach and regular blood test monitoring, her calcium levels stayed in a safe range throughout pregnancy, and she delivered a healthy baby with normal calcium levels.

The patient had a history of multiple miscarriages in the second trimester, which may have been related to her undiagnosed low calcium condition. After delivery, when she stopped taking her calcium and vitamin D supplements, her blood tests showed low calcium again, though she remained asymptomatic. The newborn had normal calcium levels at birth, suggesting that the mother’s treatment during pregnancy protected the baby from calcium problems. The case highlights that DiGeorge syndrome can go undiagnosed into adulthood, especially when patients don’t have the more obvious features like heart defects or distinctive facial features.

This case aligns with existing medical knowledge that DiGeorge syndrome is often diagnosed late because it has highly variable features. The approach of using basic calcium and vitamin D supplements rather than stronger medications is consistent with current treatment guidelines for hypoparathyroidism, though each patient requires individualized care. The case adds to the literature by demonstrating successful pregnancy management in a patient with genetic hypoparathyroidism and emphasizes the importance of considering genetic causes when other explanations for low calcium are ruled out.

This is a single case report involving one patient, so the findings cannot be applied broadly to all patients with DiGeorge syndrome or hypoparathyroidism. The patient was lost to follow-up after delivery, so long-term outcomes are unknown. The case does not provide information about whether other family members were tested or affected. Additionally, the specific reasons why this patient’s calcium remained stable with conservative therapy while others might need stronger medications are not fully explained. Readers should not assume that all pregnant women with low calcium from DiGeorge syndrome will respond the same way.

The Bottom Line

Pregnant women with unexplained low calcium levels should be evaluated thoroughly, including genetic testing if acquired causes are ruled out (moderate confidence). Close monitoring of calcium levels throughout pregnancy is essential (high confidence). Calcium and vitamin D supplementation may be sufficient for some patients, but treatment should be individualized based on blood test results (moderate confidence). Continued monitoring after pregnancy is important because hormone changes can affect calcium balance (moderate confidence). Women with DiGeorge syndrome should receive genetic counseling before pregnancy to understand risks and plan appropriate monitoring (moderate confidence).

Pregnant women with unexplained low calcium levels should discuss this case with their doctors. Women with a family history of DiGeorge syndrome or unexplained miscarriages may benefit from genetic evaluation. Healthcare providers caring for pregnant patients should consider genetic causes of low calcium. Women planning pregnancy who have been diagnosed with hypoparathyroidism should work with their doctors to plan appropriate monitoring. This case is less relevant for women with normal calcium levels or those whose low calcium has a clear acquired cause (like thyroid surgery).

In this case, calcium levels stabilized within weeks of starting supplementation, though the patient required ongoing monitoring throughout pregnancy. Benefits of treatment (stable calcium and healthy pregnancy) were evident by delivery. However, the postpartum period requires continued attention, as calcium imbalance can reappear when supplements are stopped. Long-term management requires indefinite monitoring and likely lifelong supplementation.

Want to Apply This Research?

  • Track weekly calcium supplement intake (dose and timing) and any symptoms like muscle cramps, tingling, or fatigue. Record scheduled blood test dates and calcium level results when available.
  • Set daily reminders for calcium and vitamin D supplement timing, ideally separated from other medications. Log any symptoms or concerns to discuss with your healthcare provider at appointments. Track prenatal visit dates and blood work schedules.
  • Create a calendar view showing supplement doses, blood test appointments, and results. Use trend tracking to monitor calcium levels over time if results are available. Set alerts for postpartum period to remind about continued monitoring and supplementation needs. Document any changes in symptoms or medication tolerance.

This case report describes one patient’s experience and should not be considered medical advice. If you are pregnant and have low calcium levels, unexplained miscarriages, or a family history of DiGeorge syndrome, consult your healthcare provider immediately. Do not start, stop, or change any supplements or medications without medical supervision. Calcium and vitamin D supplementation during pregnancy requires careful monitoring through blood tests. This information is educational only and does not replace professional medical evaluation and personalized treatment recommendations from your doctor.