Pregnancy outcomes of Fabry disease in Austria (PROFABIA)-a retrospective cohort-study
Abstract Background Pregnancy and delivery outcomes in women with Fabry disease are not well described. Methods Retrospective cohort-study of women with Fabry disease in Austria using a specific questionnaire and the Austrian Mother–Child Health Passport. Results Out of a total of 44 enrolled women...
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| Format: | Article |
| Language: | English |
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BMC
2024-04-01
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| Series: | Orphanet Journal of Rare Diseases |
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| Online Access: | https://doi.org/10.1186/s13023-024-03180-3 |
| _version_ | 1797199198263705600 |
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| author | Natalja Haninger-Vacariu Kyra Anastopoulos Christof Aigner Raute Sunder-Plassmann Constantin Gatterer Markus Ponleitner Gere Sunder-Plassmann Alice Schmidt |
| author_facet | Natalja Haninger-Vacariu Kyra Anastopoulos Christof Aigner Raute Sunder-Plassmann Constantin Gatterer Markus Ponleitner Gere Sunder-Plassmann Alice Schmidt |
| author_sort | Natalja Haninger-Vacariu |
| collection | DOAJ |
| description | Abstract Background Pregnancy and delivery outcomes in women with Fabry disease are not well described. Methods Retrospective cohort-study of women with Fabry disease in Austria using a specific questionnaire and the Austrian Mother–Child Health Passport. Results Out of a total of 44 enrolled women (median age at study entry 44 years, p25: 30, p75: 51), 86.4% showed signs and symptoms of Fabry disease with an increase in pain burden during pregnancy, primarily in women with moderate pain before pregnancy. Thirty-two of 44 women with Fabry disease reported a total of 70 pregnancies (median age at first pregnancy 24 years, p25: 21, p75: 31), 61 (87.1%) of which resulted in 64 live births including 3 sets of twins, six miscarriages (8.6%) in five women, and three induced abortions (4.3%) in two women. Risk factors for poor maternal and foetal outcomes during pregnancy, overrepresented in our cohort as compared to the general population, were hypertension (n = 10, 16.4%), proteinuria (n = 17, 27.9%) and smoking (n = 24, 39.3%). Preeclampsia was reported in 7 pregnancies (11.5%). Fifty-one (79.7%) children were born at term and 13 (20.3%) were preterm (including one neonatal death), with a median gestational age of 39 weeks (p25: 38, p75: 40) and delivery by C-section in 15 pregnancies (24.6%). Thirteen (20.3%) children presented with low birth weight and 18 (28.1%) were small for their gestational age. In comparison to global and national data-sets, preeclampsia, prematurity, low birth weight, being small for their gestational age as well as inpatient stay were significantly more common in patients with Fabry disease. Conclusions Our cohort-study in women with Fabry disease shows an increase of pain burden during pregnancies and clearly points to an increased risk for preeclampsia, prematurity, and neonates small for gestational age. With a substantial number of high-risk pregnancies, neonatal outcomes are somewhat worse in Fabry disease than in the general public. Thus, we provide valuable data enabling informed decision-making in pregnancy counselling for Fabry disease. |
| first_indexed | 2024-04-24T07:11:56Z |
| format | Article |
| id | doaj.art-78fb8239d6ee479cb7615ca75a0de611 |
| institution | Directory Open Access Journal |
| issn | 1750-1172 |
| language | English |
| last_indexed | 2024-04-24T07:11:56Z |
| publishDate | 2024-04-01 |
| publisher | BMC |
| record_format | Article |
| series | Orphanet Journal of Rare Diseases |
| spelling | doaj.art-78fb8239d6ee479cb7615ca75a0de6112024-04-21T11:30:22ZengBMCOrphanet Journal of Rare Diseases1750-11722024-04-0119111010.1186/s13023-024-03180-3Pregnancy outcomes of Fabry disease in Austria (PROFABIA)-a retrospective cohort-studyNatalja Haninger-Vacariu0Kyra Anastopoulos1Christof Aigner2Raute Sunder-Plassmann3Constantin Gatterer4Markus Ponleitner5Gere Sunder-Plassmann6Alice Schmidt7Division of Nephrology and Dialysis, Department of Medicine III, Medical University of ViennaUniversity of ViennaDivision of Nephrology and Dialysis, Department of Medicine III, Medical University of ViennaDepartment of Laboratory Medicine, Genetics Laboratory, Medical University of ViennaDivision of Cardiology, Department of Medicine II, Medical University of ViennaDepartment of Neurology, Comprehensive Center for Clinical Neurosciences and Mental Health, Medical University of ViennaDivision of Nephrology and Dialysis, Department of Medicine III, Medical University of ViennaDivision of Nephrology and Dialysis, Department of Medicine III, Medical University of ViennaAbstract Background Pregnancy and delivery outcomes in women with Fabry disease are not well described. Methods Retrospective cohort-study of women with Fabry disease in Austria using a specific questionnaire and the Austrian Mother–Child Health Passport. Results Out of a total of 44 enrolled women (median age at study entry 44 years, p25: 30, p75: 51), 86.4% showed signs and symptoms of Fabry disease with an increase in pain burden during pregnancy, primarily in women with moderate pain before pregnancy. Thirty-two of 44 women with Fabry disease reported a total of 70 pregnancies (median age at first pregnancy 24 years, p25: 21, p75: 31), 61 (87.1%) of which resulted in 64 live births including 3 sets of twins, six miscarriages (8.6%) in five women, and three induced abortions (4.3%) in two women. Risk factors for poor maternal and foetal outcomes during pregnancy, overrepresented in our cohort as compared to the general population, were hypertension (n = 10, 16.4%), proteinuria (n = 17, 27.9%) and smoking (n = 24, 39.3%). Preeclampsia was reported in 7 pregnancies (11.5%). Fifty-one (79.7%) children were born at term and 13 (20.3%) were preterm (including one neonatal death), with a median gestational age of 39 weeks (p25: 38, p75: 40) and delivery by C-section in 15 pregnancies (24.6%). Thirteen (20.3%) children presented with low birth weight and 18 (28.1%) were small for their gestational age. In comparison to global and national data-sets, preeclampsia, prematurity, low birth weight, being small for their gestational age as well as inpatient stay were significantly more common in patients with Fabry disease. Conclusions Our cohort-study in women with Fabry disease shows an increase of pain burden during pregnancies and clearly points to an increased risk for preeclampsia, prematurity, and neonates small for gestational age. With a substantial number of high-risk pregnancies, neonatal outcomes are somewhat worse in Fabry disease than in the general public. Thus, we provide valuable data enabling informed decision-making in pregnancy counselling for Fabry disease.https://doi.org/10.1186/s13023-024-03180-3Fabry diseasePregnancyPregnancy outcomesDelivery outcomesPregnancy counsellingLysosomal storage disorders |
| spellingShingle | Natalja Haninger-Vacariu Kyra Anastopoulos Christof Aigner Raute Sunder-Plassmann Constantin Gatterer Markus Ponleitner Gere Sunder-Plassmann Alice Schmidt Pregnancy outcomes of Fabry disease in Austria (PROFABIA)-a retrospective cohort-study Orphanet Journal of Rare Diseases Fabry disease Pregnancy Pregnancy outcomes Delivery outcomes Pregnancy counselling Lysosomal storage disorders |
| title | Pregnancy outcomes of Fabry disease in Austria (PROFABIA)-a retrospective cohort-study |
| title_full | Pregnancy outcomes of Fabry disease in Austria (PROFABIA)-a retrospective cohort-study |
| title_fullStr | Pregnancy outcomes of Fabry disease in Austria (PROFABIA)-a retrospective cohort-study |
| title_full_unstemmed | Pregnancy outcomes of Fabry disease in Austria (PROFABIA)-a retrospective cohort-study |
| title_short | Pregnancy outcomes of Fabry disease in Austria (PROFABIA)-a retrospective cohort-study |
| title_sort | pregnancy outcomes of fabry disease in austria profabia a retrospective cohort study |
| topic | Fabry disease Pregnancy Pregnancy outcomes Delivery outcomes Pregnancy counselling Lysosomal storage disorders |
| url | https://doi.org/10.1186/s13023-024-03180-3 |
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