Porphyria and Pregnancy

Diseases that are characterized by high levels of porphyrins in the blood, urine, and tissues, are grouped under the name porphyrias.

It’s important to discuss with your doctor the risks of pregnancy with porphyria, and any potential harm that medications you are taking might cause the fetus.

Can patients with porphyria become pregnant?

Yes. Women with porphyria can become pregnant. However, pregnancy may aggravate porphyria.

What are the risks of porphyria to the pregnancy?

Pregnancy involves many changes to the mother’s body. These are necessary to supply nutrients to the fetus, support fetal growth, and prepare for birth. Porphyria can make some of these changes more stressful. The hormonal changes that occur during pregnancy, such as increased progesterone, can raise the risk of an acute porphyria attack as progesterone is a porphyrin inductor.

Studies have compared the risk of pregnancy in women with porphyria to those without the disease. The results of these studies indicate that women with porphyria have a higher risk of preeclampsia (dangerously high blood pressure during pregnancy) and a higher incidence of delivery by cesarean section. In addition, more infants born to mothers with porphyria have low weight at birth, and are small for their gestational age. Congenital malformations and death shortly after birth are slightly more likely in babies born to mothers with porphyria.

Can my baby inherit porphyria?

Porphyria is a heritable condition. People with porphyria can potentially pass the disease onto their children. Some types of porphyria are inherited in a dominant way. This means that inheriting a single copy of a disease-causing mutation is sufficient for the disease to develop. Other types are inherited in a recessive way. In these cases, a child must inherit two copies of a disease-causing mutation, one from each parent, to develop the disease.

If you have porphyria or a family history of the disease, you should talk with your doctor and a genetic counselor about whether you and your partner should be tested for the disease.

Can I have my baby tested before birth?

Yes. There are procedures for genetic testing prior to birth. The mains ones are amniocentesis and chorionic villus sampling (CVS).

In amniocentesis, the doctor inserts a needle into the uterus through the abdomen to collect a small sample of the amniotic fluid. This is the fluid that surrounds the baby in the uterus, and contains cells from the baby. Clinicians can use these cells for genetic testing.

The placenta also contains the baby’s DNA, as well as the mother’s. In CVS, doctors obtain a sample of the placenta, either through the cervix or through the abdomen. They can then use this for genetic testing.

What precautions should I take during pregnancy?

Your doctor will discuss the precautions that you should take during pregnancy. Because porphyria is rare, it may be necessary to have your primary care physician consult with your obstetrician to ensure that you get the best care. You will need to discuss whether your medications need to change during pregnancy or after giving birth.

Patients with porphyria should avoid some medications that doctors commonly prescribe during pregnancy and delivery. In particular, ergometrine, a medication commonly used to reduce bleeding following birth, can be very dangerous. Some types of antibiotics also should not be prescribed to patients with porphyria.

Some types of anesthetics (medications that reduce pain) are also not safe for porphyria, but there are alternative medications that should not cause problems. Make sure the prescribing physician is aware of your condition.

What happens after the baby is born?

Deciding whether to breastfeed or formula feed is a very personal decision. You should consult with your care team about any medical reasons why one or the other might be better for you. If you are planning to breastfeed, it’s important to discuss with your care team whether your medications need to change while you are nursing.

In case your baby was not tested prenatally for porphyria, you should discuss with your doctor whether testing is necessary, and when it should be done.

If your baby is underweight at birth, additional supportive care may be necessary, even for full-term pregnancies.

Last updated: July 7, 2020

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Porphyria News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.