Realization of Sequencing of All Known Human Genes in Case of Detection of Cerebral Renal or Ophthalmological Fetal Malformations During Pregnancy in Order to Make an Etiological Diagnosis and to Precise the Fetal Prognosis

  • STATUS
    Recruiting
  • End date
    Sep 26, 2023
  • participants needed
    90
  • sponsor
    University Hospital, Strasbourg, France
Updated on 26 January 2021

Summary

Congenital malformations concern 3% of pregnancies; most of them can be seen during pregnancy. For some malformations, an invasive sample (trophoblast biopsy or amniocentesis) is proposed to search a chromosomal abnormality by the technique of DNA chip. However, some strongly suggestive signs of a genetic (and not chromosomal) pathology have a very low diagnostic rate with this technique. In the absence of an etiological diagnosis, the prognosis for the unborn child is very difficult to assess, as we can't know if the fetal malformation is really isolated or associted to other unseen features as part of a syndromic condition.

For some malformations strongly suggestive of a genetic condition, we propose to realize an exome (i.e. all coding parts of the genome) sequencing of the trio (child and the 2 parents) with a delivery time compatible with the emergency situation of a pregnancy (6 weeks maximum). We will apply bioinformatics filters to analyse only genes known to be involved in the malformation present in the unborn child and thus avoid the identification of variants in unrelated genes. These lists of genes have been previously validated by the Rare Disease Health Sectors and the affiliated diagnostic laboratories. The selected malformations are: 1) anomalies of the central nervous system (microcephaly (<- 2DS) with anomalies of gyration, anomalies of the posterior fossa, anomalies of the midline except agenesis of the corpus callosum), 2) ophthalmological anomalies (microphthalmia, hyperplasia vitreous) and 3) renal abnormalities (large hyperechoic kidneys).

Details
Condition CONGENITAL ANOMALY NOS, Growth Hormone Deficiencies/Abnormalities, Female Hormonal Deficiencies/Abnormalities, Male Hormonal Deficiencies/Abnormalities, Birth Defects, Growth Hormone Deficiencies/Abnormalities, Female Hormonal Deficiencies/Abnormalities, Male Hormonal Deficiencies/Abnormalities, Pregnancy Related, Birth Defects, Rare Genetic Disease
Treatment CGH-array and exome sequencing
Clinical Study IdentifierNCT04406480
SponsorUniversity Hospital, Strasbourg, France
Last Modified on26 January 2021

Eligibility

Yes No Not Sure

Inclusion Criteria

Father and mother of an unborn child past the age of majority
Consent dated and signed by the mother and by the father
Father and mother able to understand the objectives and risks of the study
For the mother, pregnancy in progress (between 12 and 34 weeks)
For the mother, pregnancy with the presence of a malformation on ultrasound, confirmed by a doctor from the multidisciplinary diagnostic prenatal center, entering into the indications retained for this study
Clinical validation of the couple's eligibility by an expert for some of selected indications
Father and mother affiliated to a social protection health

Exclusion Criteria

Identified genetic or chromosomal abnormality explaining the observed malformation
Inability to give informations to the father and / or mother (father or mother in emergency or life-threatening situation)
Father and / or mother under the protection of justice
Father and / or mother under guardianship or curatorship
Nursing woman
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