Related Experiment Video
Updated: Jul 12, 2026
07:45
An Explant Assay for Assessing Cellular Behavior of the Cranial Mesenchyme
Published on: January 20, 2013
Associated malformations in cases with neural tube defects
1Génétique Médicale, Faculté de Médecine, Strasbourg, France. claude.stoll@medecine.u-strasbg.fr
Genetic Counseling (Geneva, Switzerland)
|August 23, 2007
Summary
About one in five infants with neural tube defects (NTDs) have associated congenital defects. This highlights the need for thorough investigation and screening for conditions like facial clefts and cardiac anomalies in newborns with NTDs.
Area of Science:
- Medical Genetics
- Pediatric Neurology
- Public Health
Background:
- Infants with neural tube defects (NTDs) can present with additional congenital anomalies.
- Existing studies report varying incidences and types of these associated malformations.
Purpose of the Study:
- To determine the prevalence and types of congenital malformations associated with NTDs in a specific population.
- To provide data on the frequency of co-occurring defects in infants diagnosed with NTDs.
Main Methods:
- Analysis of data from a registry of congenital anomalies in Northeastern France.
- Inclusion of all infants born between 1979 and 2003 with NTDs (n=360) from 334,262 consecutive births.
Main Results:
- 20.5% of infants with NTDs had associated malformations.
- Associated anomalies were most common in infants with encephalocele (37.5%), followed by spina bifida (23.7%) and anencephaly (11.8%).
- Commonly associated defects included oral clefts, and malformations of the musculoskeletal, renal, and cardiovascular systems.
Conclusions:
- The significant prevalence of associated malformations underscores the necessity for comprehensive evaluations in infants with NTDs.
- Routine screening for specific anomalies (facial clefts, musculoskeletal, renal, cardiac) and genetic counseling are recommended for affected infants.
Related Concept Videos
01:30Neurulation
Neurulation is the embryological process which forms the precursors of the central nervous system and occurs after gastrulation has established the three primary cell layers of the embryo: ectoderm, mesoderm, and endoderm. In humans, the majority of this system is formed via primary neurulation, in which the central portion of the ectoderm—originally appearing as a flat sheet of cells—folds upwards and inwards, sealing off to form a hollow neural tube. As development proceeds, the anterior...
01:07Teratogenicity
The ability of a drug to produce structural deformations and functional abnormalities in the developing embryo or the fetus is called teratogenicity, and the drug producing this effect is known as a teratogen. Teratogenic effects include stillbirth, miscarriage, intrauterine growth restriction, and neurocognitive delay. A teratogen may affect the embryo at different stages of development, which is important in determining the type and extent of the damage. During blastocyst formation, the early...