Follow up of Increased Nuchal Translucency :Study of 2010 to 2018 of Limoges Hospital
Overview
- Phase
- Not Applicable
- Intervention
- Not specified
- Conditions
- Ultrasound Fetal Medicine
- Sponsor
- University Hospital, Limoges
- Enrollment
- 392
- Locations
- 1
- Primary Endpoint
- Number of chromosomal abnormalities on fetuses with increased nuchal translucency
- Status
- Completed
- Last Updated
- 4 years ago
Overview
Brief Summary
The ultrasound of the first trimester allows to determinate the pregnancy beginning, the type of pregnancy and also to detect increased nuchal translucency (NT). Fetuses with common chromosomal abnormalities (trisomies 21, 18 and 13 and monosomy X) and structural abnormalities (particularly cardiac defects) and single-gene disorders frequently show increased NT. The purpose of this study is to evaluate in the population of Limousin, the type and frequency of these abnormalities.
Detailed Description
Increased NT superior than 95th percentile (Nicolaides curves) during the ultrasound of the first trimester, are associated to common chromosomal abnormalities. It's therefore necessary to make amniocentesis and to analyze karyotyping and Genomic microarrays, also known as chromosomal microarrays (CMA). In euploid foetus, increased NT is also associated with structural defects or genetic syndromes. Additionally, the overall long-term growth of euploid children with increased NT is not much known. The majority (98%) of euploid children with a normal second trimester ultrasound is apparently healthy in the short run. The investigator's objective is to evaluate in a retrospective way, different events (structural defects, chromosomal or genetic abnormalities) during these pregnancies. In a prospective way, the neurodevelopmental disorders in euploid children will be investigated.
Investigators
Eligibility Criteria
Inclusion Criteria
- •Increased nucal translucency (NT) \> 95e percentile on the pregnancy's first trimester
- •Monofoetal pregnancy
- •Twin pregnancy (biamniotic bichorial)
- •Adult patients
Exclusion Criteria
- •Increased NT \< 95e percentile on the pregnancy's first trimester
- •Increased NT \> 95e percentile on the pregnancy's second trimester
- •Twin pregnancy (biamniotic monochorial), triple or more gestation
- •Underage patients
Outcomes
Primary Outcomes
Number of chromosomal abnormalities on fetuses with increased nuchal translucency
Time Frame: 6 months
Characterization of fetuses with increased nuchal translucency by Identification of chromosomal abnormalities, structural defects and genetic syndromes on fetuses with increased nuchal translucency
Number structural defects on fetuses with increased nuchal translucency
Time Frame: 6 months
Characterization of fetuses with increased nuchal translucency by Identification of chromosomal abnormalities, structural defects and genetic syndromes on fetuses with increased nuchal translucency
Number of genetic syndromes on fetuses with increased nuchal translucency
Time Frame: 6 months
Characterization of fetuses with increased nuchal translucency by Identification of chromosomal abnormalities, structural defects and genetic syndromes on fetuses with increased nuchal translucency
Secondary Outcomes
- maternofetal infection(1 year)
- Rate of each Pregnancy outcomes(1 year)
- Determination of a neck thickness threshold at risk of psychomotor developmental delay(1 year)
- Study of the psychomotor development of nuchal translucency with normal genetic analysis(1 year)
- structural defects(1 year)
- postnatal structural defects(1 year)
- postnatal chromosomal abnormalities(1 year)
- Determination of a neck thickness threshold at risk of malformations and requiring the persistence of monthly ultrasound monitoring(1 year)
- postnatal genetic syndromes(1 year)