Ignite Creation Date:
2024-05-06 @ 2:42 PM
Last Modification Date:
2024-10-26 @ 1:36 PM
Study NCT ID:
NCT04406480
Status:
UNKNOWN
Last Update Posted:
2020-11-13
First Post:
2020-05-26
Brief Title:
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
Sponsor:
University Hospital Strasbourg France
Organization:
University Hospital Strasbourg France
Study Overview
Official Title:
Contribution of the Exome Sequencing in Antenatal Period Behind Ultrasound Features Suggestive of a Rare Genetic Disease
Status:
UNKNOWN
Status Verified Date:
2020-11
Last Known Status:
RECRUITING
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
PRENATEX
Brief 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 cant 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 ie 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
For some malformations strongly suggestive of a genetic condition we propose to realize an exome ie 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
Detailed Description:
None
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None