The diagnosis of PKD is most commonly made by pre-symptomatic screening of at-risk patients with a positive family using ultrasonography which is inexpensive, safe, and readily available. Alternatively, incidental findings of kidney cysts in at-risk patients who undergo imaging studies for other indications may also lead to the diagnosis of PKD. In both scenarios, early diagnosis of PKD has become increasingly more common and has important implications for family planning.
Generally, women with PKD who have normal blood pressure and normal kidney function have uneventful pregnancies and deliver healthy babies. Risk factors associated with pregnancy and PKD are due to increased blood pressure. Some women with PKD will develop hypertension during their pregnancy and are more likely to have continued elevations in their blood pressure after delivery. Women who have high blood pressure prior to becoming pregnant have the risk of further elevations in their blood pressure while pregnant and women with complications in their first pregnancy are more likely to have complications in future pregnancies.
It is important for a woman with PKD to be closely monitored during pregnancy whether she has hypertension or not. Increases in blood pressure as well as protein in the urine could signal a serious complication of pregnancy called preeclampsia – a condition where the placenta can be prevented from getting enough blood. If the placenta doesn’t get enough blood, the growth of the fetus can be compromised resulting in low birth weight, premature birth, and other problems for the baby. Most women with preeclampsia still deliver healthy babies.
Pregnancy does not seem to affect the growth of kidney cysts but there appears to be a slight increase in the rate of loss of kidney function in women with hypertension and four or more pregnancies, as compared to PKD women with hypertension who have fewer than four pregnancies.
The decision to have children is a very personal one. Both parents need to discuss the risks involved and the joy associated with having a child. With an affected parent, there is a 50 percent probability of having a child who has inherited the gene for PKD. Pre-implantation genetic diagnosis (PGD) is now feasible and has been successfully applied in more than 300 genetic disorders for selecting healthy embryos created by in-vitro fertilization (IVF) for implantation. The utility of this new approach in PKD in the context of family planning has not been formally assessed. Should you be interested in learn more, please contact your physician for referral to specialized centers experienced in PGD.