The Role of Ultrasonography in Pregnancy in the Study of Fetal Central Nervous System Malformations (CNS_2021)

The aim of this observational study is to evaluate the correlation between new ultrasound patterns and fetal central nervous system (CNS) malformations.

Study Overview

• Status: Recruiting
• Conditions: Malformation Brain
• Intervention / Treatment: Other: Comparison between groups

Detailed Description

During fetal life, the CNS undergoes major changes, so it is important to study the evolution of brain morphology serially during intrauterine life.

Despite numerous data in the literature, prenatal ultrasound diagnosis of CNS malformations is often difficult due to the presence of imaging pictures that are nondiagnostic or difficult to interpret. Moreover, only some of the sonographic features of CNS malformations have been described in detail. Therefore, it is essential to study and describe the ultrasound pictures in order to identify new ultrasound patterns useful to identify the fetal malformation more clearly. Therefore, this study aims to retrospectively analyze the ultrasound images of fetuses with established brain malformations and compare them with those of healthy fetuses in order to highlight the presence of new ultrasound patterns, which may more clearly define the malformative pathology.

Ultrasound images routinely performed in pregnancy in fetuses with brain malformation and in healthy fetuses will be reviewed.

For each patient, information will be collected on:

• Age
• Previous pregnancies and their outcome
• Pregnancy arising spontaneously or through Medically Assisted Procreation techniques
• Family history of congenital malformation
• Type of central nervous system malformation (neural tube defects, holoprosencephaly, corpus callosum agenesis, cerebellar malformations, posterior cranial fossa cysts, other malformations)
• Gestational age at the time of diagnostic suspicion
• Gestational epoch at the time of diagnosis
• Pregnancy outcome (miscarriage, voluntary termination of pregnancy, spontaneous delivery or cesarean section)
• Presence of associated abnormalities affecting other anatomical districts

For each newborn, information will be collected on:

• Sex
• Weight
• Umbilical artery pH
• APGAR index at 5 and 10 minutes
• Neurological assessment in the immediate postpartum period
• Perinatal mortality

• Study Type: Observational
• Enrollment (Estimated): 80

Contacts and Locations

• Study Contact: Name: Gianluigi Pilu, MD; Phone Number: 0512143493; Email: gianluigi.pilu@aosp.bo.it

Study Locations

• Italy
  • Bologna, Italy, 40138
    • Recruiting
    • IRCCS Azienda Ospedaliero-Universitaria di Bologna
    • Contact: Gianluigi Pilu, MD; Phone Number: 0512143493; Email: gianluigi.pilu@aosp.bo.it

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Adult
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

Participants will be divided into 2 groups: group A (patients whose fetus has central nervous system malformations) and group B (healthy patients whose fetus has no anatomical abnormalities of the central nervous system).

Description

Inclusion Criteria:

• Women older than 18 years with single pregnancy and fetus with ultrasound diagnosis of central nervous system malformation (group A)
• Women with single pregnancy and normoconformed fetuses (group B).

Exclusion Criteria:

• Twin pregnancy

Study Plan

How is the study designed?

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
Fetus with CNS malformations; Evaluation of ultrasound images routinely performed during pregnancy in fetuses with brain malformation	Other: Comparison between groups; Ultrasound images acquired during routine ultrasound scans performed in healthy fetuses and in fetuses found to have CNS malformations will be reviewed. Ultrasound images acquired from January 2000 to May 2021 will be analyzed until a sample size of approximately 80 patients is reached, who will be divided into 2 groups: group A (patients whose fetus has CNS malformations) and group B (healthy patients whose fetus has no anatomical CNS abnormalities).
Fetus withous CNS malformations; Evaluation of ultrasound images routinely performed during pregnancy in healthy fetuses	Other: Comparison between groups; Ultrasound images acquired during routine ultrasound scans performed in healthy fetuses and in fetuses found to have CNS malformations will be reviewed. Ultrasound images acquired from January 2000 to May 2021 will be analyzed until a sample size of approximately 80 patients is reached, who will be divided into 2 groups: group A (patients whose fetus has CNS malformations) and group B (healthy patients whose fetus has no anatomical CNS abnormalities).

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Correlation between new ultrasound patterns and fetal CNS malformations	Retrospectively analyze ultrasound images of fetuses with established brain malformations	up to 100 weeks

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Comparison of ultrasound patterns found in fetuses with and without CNS malformations	Comparison of ultrasound scans of fetuses with and without CNS malformation to discover of new ultrasound patterns, which may more clearly define the malformative pathology.	up to 100 weeks

Collaborators and Investigators

• Sponsor: IRCCS Azienda Ospedaliero-Universitaria di Bologna
• Investigators: Principal Investigator: Gianluigi Pilu, MD, IRCCS Azienda Ospedaliero-Universitaria di Bologna

Study record dates

Study Major Dates

• Study Start (Actual): October 11, 2021
• Primary Completion (Estimated): December 31, 2026
• Study Completion (Estimated): December 31, 2026

Study Registration Dates

• First Submitted: December 3, 2024
• First Submitted That Met QC Criteria: January 17, 2025
• First Posted (Actual): March 25, 2025

Study Record Updates

• Last Update Posted (Actual): March 25, 2025
• Last Update Submitted That Met QC Criteria: January 29, 2025
• Last Verified: October 1, 2024

More Information

Terms related to this study

• Keywords: Prenatal ultrasounds
• Additional Relevant MeSH Terms: Nervous System Diseases; Congenital Abnormalities; Nervous System Malformations
• Other Study ID Numbers: CNS_2021

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No
• product manufactured in and exported from the U.S.: No