Clinical trial NCT04028453: Follow up of Increased Nuchal Translucency :Study of 2010 to 2018 of Limoges Hospital
Official title: Follow up of Increased Nuchal Translucency :Study of 2010 to 2018 of Limoges Hospital
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Ultrasound Fetal Medicine
Keywords: Increased nuchal translucency
prenatal diagnosis
karyotype analysis
chromosome micro-array analysis
neurodevelopmental disorders
euploid children
Lead sponsor: University Hospital, Limoges
Sponsor class: OTHER
First posted: 2019-07-22
Enrollment: 392
Sex: FEMALE
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Observational model: COHORT
Time perspective: OTHER
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Patient with nuchal translucency of the fetus\> 95th percentile in the first trimester of pregnancy

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.

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

Primary outcomes:
measure: Number of chromosomal abnormalities on fetuses with increased nuchal translucency
timeFrame: 6 months
measure: Number structural defects on fetuses with increased nuchal translucency
timeFrame: 6 months
measure: Number of genetic syndromes on fetuses with increased nuchal translucency
timeFrame: 6 months
Secondary outcomes:
measure: Rate of each Pregnancy outcomes
timeFrame: 1 year
measure: structural defects
timeFrame: 1 year
measure: maternofetal infection
timeFrame: 1 year
measure: postnatal structural defects
timeFrame: 1 year
measure: postnatal chromosomal abnormalities
timeFrame: 1 year
measure: postnatal genetic syndromes
timeFrame: 1 year
measure: Determination of a neck thickness threshold at risk of psychomotor developmental delay
timeFrame: 1 year
measure: Determination of a neck thickness threshold at risk of malformations and requiring the persistence of monthly ultrasound monitoring
timeFrame: 1 year
measure: Study of the psychomotor development of nuchal translucency with normal genetic analysis
timeFrame: 1 year
Other outcomes:
Locations:
city: Limoges
country: France
facility: CHU de Limoges
Study officials:
References: