Multicentric Prospective Study to Screen Inborn Errors of Metabolism in Non-immune Hydrops (NIH) Fetalis by Massively Parallel Sequencing
NCT ID: NCT04308603
Last Updated: 2024-11-08
Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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COMPLETED
NA
71 participants
INTERVENTIONAL
2021-04-12
2024-04-12
Brief Summary
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The etiologies of hydrops can be immune or non-immune. The historically classic immune causes are linked to fetal-maternal alloimmunizations in erythrocyte blood groups. The implementation of systematic prevention of these anti rhesus immunizations since the 1970s has significantly reduced the incidence of immune hydrops Non-immune hydrops (NIH) now represent 90% of fetal hydrops. Known causes of NIH can be classified in several ways depending on the mechanism or organ involved.
The prognosis for NIH is closely linked to the cause. Fetal anemia due to maternal-fetal infections can heal spontaneously or give rise to in utero transfusions. Cardiac rhythm abnormalities are accessible to medical treatment. Chylothorax compressions may benefit from in utero drainage, but chromosomal or metabolic causes cannot benefit from antenatal care. The term of pregnancy in which the hydrops is discovered also has an impact on survival, which however remains poor.
In France, certain pathologies can be considered as particularly serious without the possibility of treatment and give rise to a request for medical termination of pregnancy. This possibility is subject to acceptance by two practitioners who are members of a multidisciplinary prenatal diagnostic center (CPDPN). This preliminary multidisciplinary reflection participates in the development of prenatal counseling with the greatest precision in diagnostic hypotheses. This prenatal advice is essential for a couple on the decision to make a pregnancy in progress but also for future pregnancies, given the 25% risk of recurrence due to the autosomal recessive mode of transmission.
Thus the current screening strategy for inherited metabolic diseases on amniotic fluid is fragmented. The resulting subdiagnosis explains the objective of the study of using the new high throughput sequencing techniques (NGS) in this indication. This approach should make it possible to reduce the number of cases classified as idiopathic, to allow the parents concerned to receive suitable genetic counseling with a view to new pregnancies, and to refine the knowledge of the prenatal epidemiology of these pathologies.
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Detailed Description
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Conditions
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Study Design
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NA
SINGLE_GROUP
DIAGNOSTIC
NONE
Study Groups
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pregnant patient whose fetuses have an antenatal NIH
All pregnant patients whose fetuses have an antenatal revelation of NIH from the first trimester ultrasound scan will be included in this study.
NON-IMMUNE HYDROPS FETALIS diagnosis
Amniotic liquid of each selected patients will be tested by both technic to describe and detect etiological information. Each patient will be tested using the current procedure with a defined panel of genes as well as with the NGS procedure. The results of both procedures will be compared.
Interventions
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NON-IMMUNE HYDROPS FETALIS diagnosis
Amniotic liquid of each selected patients will be tested by both technic to describe and detect etiological information. Each patient will be tested using the current procedure with a defined panel of genes as well as with the NGS procedure. The results of both procedures will be compared.
Eligibility Criteria
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Inclusion Criteria
* Single Pregnancy
* Progressive pregnancy greater than 11 weeks: Fetal death in utero in a fetus previously known to be a carrier of non Immun Hydrops (NIH) is not an exclusion criterion.
* Presence of an ultrasound defined as follows and confirmed by a multidisciplinary prenatal diagnostic center CPDPN:
* Before 14 weeks: Generalized subcutaneous edema descending to the abdomen, associated or not with peri-visceral effusion
* After 14 weeks: presence of at least 2 of the following criteria: ascites, pleural effusion, pericardial effusion, subcutaneous edema, placental edema, hydramnios.
* Persistent hygroma after 14 weeks of amenorrhea
* Persistent isolated perivisceral effusions without etiologies found
* Patient having an invasive diagnostic sample (amniocentesis)
* Social insured in France
* Patient who signed the informed consent of the study
Exclusion Criteria
* Non-progressive pregnancy with Fetal Death in utero with normal previous ultrasound monitoring
* Refusal of invasive diagnostic sampling
* Patient under legal protection measure
18 Years
FEMALE
No
Sponsors
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Hospices Civils de Lyon
OTHER
Responsible Party
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Locations
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CHU Besançon
Besançon, , France
CHU Pellegrin
Bordeaux, , France
Hôpital Femme Mère Enfant
Bron, , France
Hôpital d'Estaing
Clermont-Ferrand, , France
Hôpital Le Bocage
Dijon, , France
CHU Grenoble
La Tronche, , France
CHU Limoges
Limoges, , France
Hopital Croix Rousse
Lyon, , France
Hopital Nord
Marseille, , France
CHU Marseille Timone
Marseille, , France
CHU Montpellier
Montpellier, , France
Hôpital Archet 2
Nice, , France
APHP Trousseau
Paris, , France
Hopital Lyon Sud
Pierre-Bénite, , France
CHU Saint Etienne
Saint-Priest-en-Jarez, , France
Hôpital Paule de Viguier;
Toulouse, , France
CHU de Nancy Brabois,
Vandœuvre-lès-Nancy, , France
Countries
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Other Identifiers
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2019-A02338-49
Identifier Type: OTHER
Identifier Source: secondary_id
69HCL19_0501
Identifier Type: -
Identifier Source: org_study_id
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