Clinical trial NCT02965287: Validation of a Test for Fetal Malformations
Official title: Blind Validation of a Metabolomics Based Test for the Non-invasive Screening of Fetal Malformations
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Fetal Anomaly
Lead sponsor: Theoreo Srl
Sponsor class: INDUSTRY
Collaborators: name: Auckland UniServices Ltd.
name: Massachusetts General Hospital
First posted: 2016-11-16
Enrollment: 1943
Sex: FEMALE
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: The study population is the ones selected by the SCOPE Study in New Zealand

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.

Detailed description: The test has been developed in a case-control study. In this clinical trial the investigators will test it in a large cohort that is likely to resemble a real population. The purpose of validation is to see if the test is able to recognize the few malformed fetuses in the entire population and especially its specificity in real conditions. In addition, the investigators will check whether particular maternal conditions (such as preeclampsia, gestational diabetes, etc.) or fetal conditions (Small for gestational age, Large for gestational age, etc.) affect the test results.

Eligibility criteria: Inclusion criteria were the ones designed by SCOPE Study:

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

Exclusion criteria were the ones designed by SCOPE Study:

* 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
* Ruptured membranes now
* Long term steroids
* Treatment low-dose aspirin
* Treatment calcium (\>1g/24h)
* Treatment eicosapentanoic acid (fish oil)
* Treatment vitamin C ≥1000 mg \& Vit E ≥400 iu
* Treatment heparin/low molecular weight heparin

Primary outcomes:
measure: Diagnostic test performance evaluation in dichotomic classification at 19-21 weeks' gestation
timeFrame: 6 months
measure: Diagnostic test performance evaluation in the individuation of the exact diagnosis of fetal malformation at 19-21 weeks' gestation
timeFrame: 6 months
Secondary outcomes:
measure: Diagnostic test performance evaluation in dichotomic classification at 14-16 weeks gestation
timeFrame: 6 months
measure: Diagnostic test performance evaluation in the individuation of the exact diagnosis of fetal malformation at 14-16 weeks gestation
timeFrame: 6 months
Other outcomes:
Locations:
city: Montecorvino Pugliano
country: Italy
facility: Theoreo srl
state: Salerno
Study officials:
affiliation: CEO
name: Jacopo Troisi, Dr.
role: PRINCIPAL_INVESTIGATOR
References:
citation: 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.