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Hereditary Haemorrhagic Telangiectasia (HHT) is a rare inherited genetic disease of autosomal dominant inheritance with a prevalence of about 1/5000. It is manifested by haemorrhage, mucocutaneous telangiectasia and visceral arteriovenous malformations (AVMs) (lung, liver and nervous system).
Severe complications during pregnancy in HHT are rare but considered high risk. Intracranial or pulmonary haemorrhage, stroke and heart failure have been reported in some women with HHT during pregnancy. These complications occur most often in the second and third trimesters when maternal physiological changes such as peripheral vasodilatation and increased cardiac output are at their peak.
Previous retrospective studies were conducted with numbers ranging from 40 to 97 patients and highlighted the importance of early screening of complications and specific management.
The aim of this study is to describe, on a larger number of patients, the obstetric and neonatal complications in patients with HHT and followed in the French Reference Center for HHT.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Women with Hereditary Haemorrhagic Telangiectasia | Women with Hereditary Haemorrhagic Telangiectasia with at least one full term pregnancy |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Questionnaire | Other | Interview of women with Hereditary Haemorrhagic Telangiectasia (HHT) during a consultation in the Reference Center for HHT or through a phone questionnaire about obstetric history, complications during pregnancy, delivery and neonatal outcomes. |
| Measure | Description | Time Frame |
|---|---|---|
| Occurrence of complications during pregnancy | The questionnaire consists in collecting obstetric history (number of pregnancies, abortions), complications during pregnancy, delivery type and neonatal outcomes. | Interview time (about 15 minutes) |
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Inclusion Criteria:
Exclusion Criteria:
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Women with Hereditary Haemorrhagic Telangiectasia and one or more past pregnancies.
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Centre de Référence pour la maladie de Rendu-Osler Service Génétique Clinique Bâtiment A1 - Hôpital Femme-Mère-Enfant - Hospices Civils de Lyon | Bron | 69677 | France |
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| ID | Term |
|---|---|
| D013683 | Telangiectasia, Hereditary Hemorrhagic |
| ID | Term |
|---|---|
| D020141 | Hemostatic Disorders |
| D014652 | Vascular Diseases |
| D002318 | Cardiovascular Diseases |
| D013684 | Telangiectasis |
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| ID | Term |
|---|---|
| D011795 | Surveys and Questionnaires |
| ID | Term |
|---|---|
| D003625 | Data Collection |
| D004812 | Epidemiologic Methods |
| D008919 | Investigative Techniques |
| D017531 | Health Care Evaluation Mechanisms |
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| D006474 |
| Hemorrhagic Disorders |
| D006402 | Hematologic Diseases |
| D006425 | Hemic and Lymphatic Diseases |
| D054079 | Vascular Malformations |
| D018376 | Cardiovascular Abnormalities |
| D000013 | Congenital Abnormalities |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D011787 | Quality of Health Care |
| D017530 | Health Care Quality, Access, and Evaluation |
| D011634 | Public Health |
| D004778 | Environment and Public Health |