Related Experiment Videos
Fetal facial defects: associated malformations and chromosomal abnormalities
K H Nicolaides1, D R Salvesen, R J Snijders
1Harris Birthright Research Centre for Fetal Medicine, Department of Obstetrics and Gynaecology, King's College Hospital Medical School, Denmark Hill, London, UK.
Fetal Diagnosis and Therapy
|January 1, 1993
Summary
Facial defects in fetuses are often linked to chromosomal abnormalities like trisomy 13, 18, and 21. These genetic conditions can cause specific facial malformations and other developmental issues.
Area of Science:
- Medical Genetics
- Prenatal Diagnosis
- Developmental Biology
Background:
- Facial defects are a common concern in prenatal diagnostics.
- Karyotyping is crucial for identifying chromosomal abnormalities in fetuses with malformations.
Purpose of the Study:
- To investigate the association between specific facial defects and chromosomal abnormalities in fetuses.
- To determine the prevalence of chromosomal abnormalities in fetuses presenting with various facial malformations.
Main Methods:
- Retrospective analysis of 2,086 fetuses undergoing karyotyping over 8 years.
- Correlation of observed facial defects (micrognathia, macroglossia, cleft lip/palate, ocular/nasal anomalies) with karyotype results.
Main Results:
- Chromosomal abnormalities were detected in a significant percentage of fetuses with specific facial defects (e.g., 66% with micrognathia, 77% with macroglossia).
- Specific trisomies were associated with particular facial anomalies: Trisomy 21 with macroglossia, Trisomy 18 with micrognathia and cleft lip/palate, Trisomy 13 with facial clefts, and ocular/nasal defects.
- All chromosomally abnormal fetuses with facial defects exhibited multisystem anomalies consistent with their genetic condition.
Conclusions:
- Facial defects serve as important indicators for underlying chromosomal abnormalities.
- The pattern of facial malformations and associated defects can help predict specific chromosomal conditions like Trisomy 13, 18, or 21.