Follow up of Increased Nuchal Translucency :Study of 2010 to 2018 of Limoges Hospital (HYPERCLAIR)

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.

Study Overview

• Status: Completed
• Conditions: Ultrasound Fetal Medicine
• Intervention / Treatment: Other: Survey

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.

• Study Type: Observational
• Enrollment (Actual): 392

Contacts and Locations

Study Locations

• France
  • Limoges, France, 87042
    • CHU de Limoges

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years and older (Adult, Older Adult)
• Accepts Healthy Volunteers: N/A
• Genders Eligible for Study: Female

• Sampling Method: Non-Probability Sample

Study Population

Patient with nuchal translucency of the fetus> 95th percentile in the first trimester of pregnancy

Description

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

Study Plan

How is the study designed?

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
Mother; 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.	Other: 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 survey.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Number of chromosomal abnormalities on fetuses with increased nuchal translucency	Characterization of fetuses with increased nuchal translucency by Identification of chromosomal abnormalities, structural defects and genetic syndromes on fetuses with increased nuchal translucency	6 months
Number structural defects on fetuses with increased nuchal translucency	Characterization of fetuses with increased nuchal translucency by Identification of chromosomal abnormalities, structural defects and genetic syndromes on fetuses with increased nuchal translucency	6 months
Number of genetic syndromes on fetuses with increased nuchal translucency	Characterization of fetuses with increased nuchal translucency by Identification of chromosomal abnormalities, structural defects and genetic syndromes on fetuses with increased nuchal translucency	6 months

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Rate of each Pregnancy outcomes	Numbers of alive children, fetal death in utero, abortions on medical grounds, stillborn, children born prematurely	1 year
structural defects	Numbers and type term of structural defects	1 year
maternofetal infection	number and type of maternofetal infection	1 year
postnatal structural defects	Numbers and type of postnatal structural defects	1 year
postnatal chromosomal abnormalities	Number and type of postnatal chromosomal abnormalities	1 year
postnatal genetic syndromes	Number and type of postnatal genetic syndromes	1 year
Determination of a neck thickness threshold at risk of psychomotor developmental delay	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).	1 year
Determination of a neck thickness threshold at risk of malformations and requiring the persistence of monthly ultrasound monitoring	Numbers and type of postnatal structural defects	1 year
Study of the psychomotor development of nuchal translucency with normal genetic analysis	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).	1 year

Collaborators and Investigators

• Sponsor: University Hospital, Limoges

Study record dates

Study Major Dates

• Study Start (Actual): October 25, 2019
• Primary Completion (Actual): October 25, 2020
• Study Completion (Actual): October 25, 2020

Study Registration Dates

• First Submitted: July 15, 2019
• First Submitted That Met QC Criteria: July 19, 2019
• First Posted (Actual): July 22, 2019

Study Record Updates

• Last Update Posted (Actual): September 8, 2021
• Last Update Submitted That Met QC Criteria: September 7, 2021
• Last Verified: September 1, 2021

More Information

Terms related to this study

• Keywords: prenatal diagnosis; neurodevelopmental disorders; Increased nuchal translucency; karyotype analysis; chromosome micro-array analysis; euploid children
• Other Study ID Numbers: 87RI19_0030 (HYPERCLAIR)

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No