Holoprosencephaly is a complex developmental abnormality of the brain arising from failure of cleavage of the prosencephalon during the fifth week of development. The prognosis of holoprosencephaly is generally grave. With recent development of
high
resolution ultrasonography, it is possible to detect fetus with holoprosencephaly antenatally.
To ascertain clinical manifestations, we reviewed the records of 7 fetuses antenatally diagnosed as holoprosencephaly at Department of Obstetrics and Gynecology of Seoul National University Hospital from Nov. 1993 to Apr. 1996.
The incidence of holoprosencephaly is 7/4,857(0.14%). Mean gestational age at diagnosis and delivery was 29 weeks of pregnancy(range from 17 to 37 weeks) and 30 weeks of pregnancy(range from 17 to 40 weeks), respectively. Modes of delivery were 1
cases
of normal full-term spontaneous delivery, 2 cases of preterm delivery, 2 cases of stillbirth, and 1 case of abortion. One case was lost after work-up for diagnosis and associated anomalies including targeted ultrasonography, fetal
echocardiography,
and
karyotyping. Perinatal mortality was 83%(5/6) and only 1 case survived. Of 7 cases, 5 cases were alobar type and 2 cases were semilobar type. @ES The frequency of associated anomaly was as follows : @EN 5 cases of facial anomaly which were
cyclopia,
proboscis, single nostril, arhinia, and midline cleft lip and palate : 3 cases of cardiovascular anomaly ; 2 cases of lung anomaly ; 2 cases of limp anomaly ; 1 case of gastrointestinal anomaly ;1 case of abdominal wall defect.
Abnormal karyotypes were identified in 4 cases(57.1%) which include 2 cases of trisomy 13, 1 case of 46, XY, -13, M(+), and 1 case of 46,XX, 18p-.
Fetus with holoprosencephaly shows a high incidence of associated anomaly and abnormal karyotyping. To predict prognosis accurately, it is desirable to confirm the diagnosis and type of holoprosencephaly and to find associated anomaly with
high-resolution ultrasonography and to undergo fetal karyotyping.
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