Follow up of Increased Nuchal Translucency :Study of 2010 to 2018 of Limoges Hospital
- Conditions
- Ultrasound Fetal Medicine
- Interventions
- Other: Survey
- Registration Number
- NCT04028453
- Lead Sponsor
- University Hospital, Limoges
- 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.
Recruitment & Eligibility
- Status
- COMPLETED
- Sex
- Female
- Target Recruitment
- 392
- Increased nucal translucency (NT) > 95e percentile on the pregnancy's first trimester
- Monofoetal pregnancy
- Twin pregnancy (biamniotic bichorial)
- Adult patients
- 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
Study & Design
- Study Type
- OBSERVATIONAL
- Study Design
- Not specified
- Arm && Interventions
Group Intervention Description Mother Survey There will be a first part with a retrospective study in order to collect pregnancy data to answer to the primary endpoint. Then, there will be a prospective part where mothers and their children will have to answer an evaluation questionnaire.
- Primary Outcome Measures
Name Time Method Number of chromosomal abnormalities on fetuses with increased nuchal translucency 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 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 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 Outcome Measures
Name Time Method structural defects 1 year Numbers and type term of structural defects
maternofetal infection 1 year number and type of maternofetal infection
Rate of each Pregnancy outcomes 1 year Numbers of alive children, fetal death in utero, abortions on medical grounds, stillborn, children born prematurely
Determination of a neck thickness threshold at risk of psychomotor developmental delay 1 year Neurodevelopmental evaluation score of Age Stage Questionnaire ASQ-3 (for 2 months, 9 months, 1 year, 2 years, 3 years, 4 years and 5 years children) or Global School Adaptation GSA (from 6 to 8 years children).
Study of the psychomotor development of nuchal translucency with normal genetic analysis 1 year Neurodevelopmental evaluation score of Age Stage Questionnaire (ASQ-3) (for 2 months, 9 months, 1 year, 2 years, 3 years, 4 years and 5 years children without genetic abnormalities) or Global School Adaptation (GSA) (from 6 to 8 years children without genetic abnormalities).
postnatal structural defects 1 year Numbers and type of postnatal structural defects
postnatal chromosomal abnormalities 1 year Number and type of postnatal chromosomal abnormalities
Determination of a neck thickness threshold at risk of malformations and requiring the persistence of monthly ultrasound monitoring 1 year Numbers and type of postnatal structural defects
postnatal genetic syndromes 1 year Number and type of postnatal genetic syndromes
Trial Locations
- Locations (1)
CHU de Limoges
🇫🇷Limoges, France