Validation of a Test for Fetal Malformations

NCT02965287 | Completed

• 1 other identifier: MV-01
• Study Type: observational
• Target: 1,943
• Locations: 1 country
• Sites: 1

Brief Summary

The investigators have developed a diagnostic test for the evaluation of the presence of fetal malformations through metabolomic analysis of maternal peripheral blood serum by chromatographic techniques and mass spectrometry, and subsequent mathematical modeling analysis of the data by means of multivariate mathematical models specifically developed for this purpose. The study aims at determining the performance parameters (specificity, sensibility, positive predictive value (PPN), negative predictive value (NPV), etc.) of the test and its applicability. To do this, the investigators will use the serum samples of the patients enrolled in New Zealand in the SCOPE Study (www.scopestudy.net), an international study conducted between years 2004-2008.

Conditions

Fetal Anomaly

Outcome Measures

Primary Outcomes (2)

• Diagnostic test performance evaluation in dichotomic classification at 19-21 weeks' gestation

  Assessment of the sensitivity, likelihood ratios and performances (diagnostic accuracy) in the identification of a malformed fetus through the analysis of a serum sample from a mother at 19-21 weeks' gestation

  6 months

• Diagnostic test performance evaluation in the individuation of the exact diagnosis of fetal malformation at 19-21 weeks' gestation

  Assessment of the sensitivity, likelihood ratios and performances (diagnostic accuracy) in the identification of the type of malformation through the analysis of a serum sample from a mother at 19-21 weeks' gestation

  6 months

Secondary Outcomes (2)

• Diagnostic test performance evaluation in dichotomic classification at 14-16 weeks gestation

  6 months

• Diagnostic test performance evaluation in the individuation of the exact diagnosis of fetal malformation at 14-16 weeks gestation

  6 months

Study Arms (2)

19-21 weeks' gestation

The test validation will be performed on the 1943 serum samples of pregnant women at 19-21 weeks' gestation recruited in New Zealand for the SCOPE Study. All the samples will be analyzed to extract and purify the whole metabolome. Metabolites will be characterized through mass spectrometric techniques. These data will be interpreted by means of a bioinformatic algorithm specifically designed for this purpose.

Other: Serum metabolomics profiling

14-16 weeks' gestation

Five hundred subjects at 14-16 weeks gestation were randomly selected from the whole cohort of patients. The serum samples collected at 14-16 weeks gestation will be used to test the diagnostic performance at this earlier gestational phase.

Other: Serum metabolomics profiling

Interventions

Serum metabolomics profiling OTHER

The serum samples will be used to get a metabolomic profile

14-16 weeks' gestation; 19-21 weeks' gestation

Eligibility Criteria

• Sex: female
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

The study population is the ones selected by the SCOPE Study in New Zealand

You may qualify if:

• \- Nulliparous women, with a singleton pregnancy, between 14wks, 0 days and 16wks, 6 days gestation who give informed consent to participate in SCOPE.

You may not qualify if:

• Unsure of last menstrual period (LMP)
• Unwilling to have ultrasound scan at ≤20 weeks
• ≥3 miscarriages
• ≥3 terminations
• Essential hypertension treated pre-pregnancy
• Moderate-severe hypertension at booking ≥160/100 mmHg
• Diabetes
• Renal disease
• Systemic lupus erythematosus
• Anti-phospholipid syndrome
• Sickle cell disease
• HIV positive
• Major uterine anomaly
• Cervical suture
• Knife cone biopsy

Sponsors & Collaborators

• Theoreo Srl: lead
• Auckland UniServices Ltd.: collaborator
• Massachusetts General Hospital: collaborator

Study Sites (1)

Theoreo srl

Montecorvino Pugliano, Salerno, 84090, Italy

Location

Related Publications (1)

• McCowan LM, Thompson JM, Taylor RS, North RA, Poston L, Baker PN, Myers J, Roberts CT, Dekker GA, Simpson NA, Walker JJ, Kenny LC; SCOPE Consortium. Clinical prediction in early pregnancy of infants small for gestational age by customised birthweight centiles: findings from a healthy nulliparous cohort. PLoS One. 2013 Aug 5;8(8):e70917. doi: 10.1371/journal.pone.0070917. Print 2013.

  PMID: 23940665 BACKGROUND

Biospecimen

Retention: SAMPLES WITHOUT DNA

Serum samples

MeSH Terms

Conditions

Congenital Abnormalities

Condition Hierarchy (Ancestors)

Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

• Jacopo Troisi, Dr.

  CEO

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: November 14, 2016
• First Posted: November 16, 2016
• Study Start: September 1, 2016
• Primary Completion: December 1, 2017
• Study Completion: December 1, 2017
• Last Updated: March 22, 2018

Record last verified: 2017-10

Data Sharing

• IPD Sharing: Will share

Locations

IT (1)