Adducted thumb may not be mandatory for prenatal diagnosis of X-linked hydrocephalus in early second trimester.
Taiwan J Obstet Gynecol
; 61(2): 353-355, 2022 Mar.
Article
in En
| MEDLINE
| ID: mdl-35361400
ABSTRACT
OBJECTIVE:
X-linked hydrocephalus (XLH), the most common genetic hydrocephalus, is caused by mutation of the L1 cell adhesion molecule (L1CAM). A fetus/neonate with this disorder frequently shows an adducted thumb, which has been employed as a helpful finding in the prenatal diagnosis of XLH. MATERIALS ANDMETHODS:
We describe a male fetus with hydrocephalus without an adducted thumb the pregnancy was terminated at 21 weeks' gestation on the parents' request. Direct sequencing of the umbilical cord revealed L1CAM mutation, which confirmed the diagnosis of XLH.RESULTS:
Our literature review demonstrated that while an adducted thumb was observed in almost all fetuses with this disorder after 24 weeks' gestation, it was noted in only 57% (8/14) of fetuses/neonates at less than 24 weeks it was absent in 43%.CONCLUSION:
Even if an adducted thumb is not observed, XLH should not be ruled out, especially in early gestation.Key words
Full text:
1
Database:
MEDLINE
Main subject:
Thumb
/
Hydrocephalus
Type of study:
Diagnostic_studies
Limits:
Female
/
Humans
/
Male
/
Newborn
/
Pregnancy
Language:
En
Year:
2022
Type:
Article