The primary objective is to determine if there is an association between the presence of vertebral and/or rib anomalies and congenital malformations, aneuploidy or adverse fetal outcome, in order to assess whether detailed evaluation of the…
ID
Source
Brief title
Condition
- Congenital and hereditary disorders NEC
- Foetal complications
Synonym
Research involving
Sponsors and support
Intervention
Outcome measures
Primary outcome
The number of ribs and/or vertebrae in fetuses with and without congenital
malformations, aneuploidy and adverse fetal outcome.
Secondary outcome
Secondary objectives are to determine:
i) the most suitable and earliest gestational age for assessing number of
vertebrae and ribs and shape by ultrasound
ii) whether it is feasible, when vertebral or rib anomalies are seen by
ultrasound, to identify the level of anomalies in the vertebral column, i.e.
cervical, thoracic or lumbar
iii) whether there is an association between an abnormal number of ribs or
vertebrae and abnormalities of specific organ systems
iv) whether the severity of the malformations is correlated to the severity of
the anomaly of the vertebral column
v) whether anomalies in vertebral or rib number are associated with specific
genetic anomalies
vi) whether the malformations can be classified into recognizable phenotypic
patterns which may be caused by or associated with a single genetic anomaly
vii) whether genetic anomalies can be classified according to the vertebral
level where the disruption occurs
Background summary
Variations in number of vertebrae and ribs are more common in stillbirths and
fetuses with congenital abnormalities and/or aneuploidy. This is probably
caused by strong interactions in early organogenesis between axial patterning,
mediated by Hox genes and other, simultaneously occurring morphogenetic
processes.
Assessment of the number of vertebrae and ribs and their shape during prenatal
sonographic examinations might be useful in determining prognosis of fetuses
with a congenital abnormality.
Hypothetically, assessment of the fetal vertebral column by ultrasound can be
reliably done from a gestational age of 13 weeks. The incidence of variations
in number of ribs and vertebrae, especially in the cervical region, of fetuses
without congenital anomalies is expected to be lower than in fetuses with
congenital malformations. Furthermore, the severity of disturbance of the fetal
vertebral column will probably be associated with the severity of congenital
malformations and adverse fetal outcome. More severe disturbances will be
located more cervical or involve more than one vertebral boundary.
Study objective
The primary objective is to determine if there is an association between the
presence of vertebral and/or rib anomalies and congenital malformations,
aneuploidy or adverse fetal outcome, in order to assess whether detailed
evaluation of the vertebral column and ribs is therefore indicated.
Study design
1. Retrospective analysis of fetal volumes from 12 weeks of gestation in 4D
view and/or the I-space (A four-walled CAVE Automatic Virtual Environment. A
hologram is created by the V-Scope volume rendering application and this
hologram can be manipulated by means of a virtual pointer that is controlled by
a wireless joystick) to determine which gestational age provides the most
suitable images for assessment of number of vertebrae and ribs and their shape.
2. Retrospective cohort study; assessment of number of vertebrae and ribs in
fetuses with aneuploidy from whom a prenatal 3-dimensional ultrasound volume is
available.
3. Retrospective study of fetuses with congenital anomalies or aneuploidy of
whom a prenatal ultrasound, autopsy, X-ray and/or genetic array are available,
from 2009 * 2013. Analysis of possible correlation between an abnormal umber of
ribs and/or vertebrae and structural anomalies and the presence of genetic
anomalies seen on genomic SNP array.
4. Prospective study of fetuses without structural malformations; determination
of number of vertebrae and ribs with 2D&3D-ultrasound in fetuses without
congenital anomalies in a high-risk population at a gestational age around 20
weeks.
5. Prospective study of fetuses with malformations; determination of number of
vertebrae and ribs with 2D&3D-ultrasound, and if available, correlation with
X-ray from postnatal period or autopsy.
6. Analysis of genetic material of the fetuses and their parents in order to
determine if specific genetic abnormalities are associated with an abnormal
number of ribs and/or vertebrae and possible associated anomalies.
Study burden and risks
During the ultrasound examination, a 3-dimensional volume of the fetal
vertebral column will be made and saved. No extra examinations will be
performed. There are no indications for harmful effects of ultrasound in human
subjects. The risk of participation in this study is therefore negligible.
's-Gravendijkwal 230
Rotterdam 3015 CE
NL
's-Gravendijkwal 230
Rotterdam 3015 CE
NL
Listed location countries
Inclusion criteria
Pregnant women
- with a gestational age of at least 12 weeks
- of at least 18 years old
- who are mentally competent
- who are willing to sign the informed consent form
Exclusion criteria
Language barrier
No consensus on interpretation of ultrasound or Xrays between different observers
Insufficient ossification (taking visibility of ossification centres of the phalanges as a reference)
Design
Recruitment
Followed up by the following (possibly more current) registration
No registrations found.
Other (possibly less up-to-date) registrations in this register
No registrations found.
In other registers
| Register | ID |
|---|---|
| CCMO | NL45536.078.14 |