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Pregnancy in CADASIL
I Donnini1, V Rinnoci1, S Nannucci1,2
1NEUROFARBA Department, University of Florence, Florence, Italy.
Insights
Pregnancy in women with Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) appears safe. The study found no increased risk of vascular events or adverse fetal outcomes, suggesting routine antithrombotic treatment is unnecessary.
Area of Science:
- Neurology
- Genetics
- Obstetrics
Background:
- Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is a genetic small vessel disease.
- Women with CADASIL are often advised against pregnancy due to perceived risks and prescribed antithrombotic drugs.
- Limited data exists on pregnancy outcomes in CADASIL patients.
Purpose of the Study:
- To evaluate pregnancy outcomes in women with CADASIL.
- To assess the safety of pregnancy for both CADASIL patients and their fetuses.
- To determine the necessity of prophylactic antithrombotic treatment during pregnancy.
Main Methods:
- Retrospective review of 50 female CADASIL patients.
- Prospective data collection on six patients, totaling 93 pregnancies.
- Analysis of maternal and fetal outcomes, including vascular events, miscarriages, births, and gestational complications.
Main Results:
- No maternal onset of CADASIL or cerebral ischemic events occurred during pregnancy.
- 17.2% miscarriage rate; 72 vaginal births and 5 cesarean sections.
- Fetal growth and newborn weights were comparable to the general population; mild gestational complications observed in two patients.
Conclusions:
- Pregnancy in CADASIL patients does not appear to be associated with adverse outcomes for mother or fetus.
- There is no evidence to support routine prophylactic antithrombotic treatment during pregnancy for CADASIL.
- Physicians and patients can be reassured about the safety of initiating pregnancy in CADASIL, pending larger studies.
Objectives:
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited cerebral small vessel disease caused by NOTCH3 gene mutations. CADASIL women are frequently considered at high risk of systemic vascular events during pregnancy and often prescribed with antithrombotic drugs. This decision is not evidence-based considering the lack of data about pregnancy outcome in CADASIL. We describe our experience on pregnancy in CADASIL patients.
Materials And Methods:
We reviewed records of 50 CADASIL females followed in our center, and we collected prospective information in six patients for a total of 93 pregnancies.
Results:
No woman had the disease onset or suffered from cerebral vascular ischemic events during pregnancy. Sixteen miscarriages (17.2%) were recorded. There were 72 vaginal births, and five cesarean sections. Considering the six patients followed prospectively (for a total of eight pregnancies), data on fetal growth and newborns weight were in line with those from the general population. Considering gestational complications, we recorded mild proteinuria without hypertension in one patient and hyperinsulinemia and pre-eclampsia in another affected by a known nephropathy. Antithrombotic drugs were used in three patients, in one for an unrelated coexisting prothrombotic condition.
Conclusions:
CADASIL does not seem to be associated with an unfavorable outcome of pregnancy either for women and fetuses. Patients and treating physicians should be reassured that pregnancy can be safely initiated in CADASIL, as there is no evidence to support a specific preventive antithrombotic treatment during pregnancy in CADASIL. Larger studies are needed to definitively confirm these conclusions.
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