Holoprosencephaly: an antenatally-diagnosed case series and subject review
Annals of the Academy of Medicine, Singapore
;
: 594-597, 2008.
Article
in English
| WPRIM
| ID: wpr-358769
ABSTRACT
<p><b>INTRODUCTION</b>Holoprosencephaly (HPE) is an uncommon congenital failure of forebrain development. Although the aetiology is heterogeneous, chromosomal abnormalities or a monogenic defect are the major causes, accounting for about 40% to 50% of HPE cases. At least 7 genes have been positively implicated, including SHH, ZIC2, SIX3, TGIF, PTCH1, GLI2, and TDGF1.</p><p><b>CLINICAL PICTURE</b>Twelve antenatally- and 1 postnatally-diagnosed cases are presented in this study. These comprised 6 amniotic fluid, 3 chorionic villus, 2 fetal blood, 1 peripheral blood, and 1 product of conception.</p><p><b>OUTCOME</b>The total chromosome abnormality rate was 92.3%, comprising predominantly trisomy 13 (66.7%). There was 1 case of trisomy 18, and 3 cases of structural abnormalities, including del13q, del18p, and add4q.</p><p><b>CONCLUSION</b>Despite the poor outcome of an antenatally-diagnosed HPE and the likely decision by parents to opt for a termination of pregnancy, karyotyping and/or genetic studies should be performed to determine if a specific familial genetic or chromosomal abnormality is the cause. At the very least, a detailed chromosome analysis should be carried out on the affected individual. If the result of high resolution karyotyping is normal, Fluorescence in situ hybridisation (FISH) and/or syndrome-specific testing or isolated holoprosencephaly genetic testing may be performed. This information can be useful in making a prognosis and predicting the risk of recurrence.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Prenatal Diagnosis
/
Trisomy
/
Holoprosencephaly
/
Chromosome Aberrations
/
Diagnosis
/
Genetics
/
Karyotyping
Type of study:
Diagnostic study
/
Prognostic study
Limits:
Adult
/
Female
/
Humans
/
Pregnancy
Language:
English
Journal:
Annals of the Academy of Medicine, Singapore
Year:
2008
Type:
Article
Similar
MEDLINE
...
LILACS
LIS