Ultrasound Fetal Medicine
Conditions
Keywords
Increased nuchal translucency, prenatal diagnosis, karyotype analysis, chromosome micro-array analysis, neurodevelopmental disorders, euploid children
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.
Interventions
OTHERSurvey
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 survey.
Sponsors
University Hospital, Limoges
Study design
Observational model
COHORT
Time perspective
OTHER
Eligibility
Sex/Gender
FEMALE
Age
18 Years to No maximum
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| 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
| Measure | Time frame | Description |
|---|---|---|
| postnatal structural defects | 1 year | Numbers and type of postnatal structural defects |
| postnatal chromosomal abnormalities | 1 year | Number and type of postnatal chromosomal abnormalities |
| postnatal genetic syndromes | 1 year | Number and type of postnatal genetic syndromes |
| 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 malformations and requiring the persistence of monthly ultrasound monitoring | 1 year | Numbers and type of postnatal structural defects |
| 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). |
| 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). |
| structural defects | 1 year | Numbers and type term of structural defects |
| maternofetal infection | 1 year | number and type of maternofetal infection |
Countries
France
Outcome results
None listed