Prenatal sonographic diagnosis of holoprosencephaly

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YANG Xiao-hong(Department of Ultrasound, Hubei Women and Children's Hospital, Wuhan 430070, China)
CHEN Xin-lin(Department of Ultrasound, Hubei Women and Children's Hospital, Wuhan 430070, China)
CHEN Chang-pei(Department of Ultrasound, Hubei Women and Children's Hospital, Wuhan 430070, China)
Journal Title:
Volume 12, Issue 02, 2009
Key Word:
Ultrasonography, prenatal;Holoprosencephaly

Abstract: Objective To investigate the prenatal sonographic appearance of holoprosencephaly (HPE), and improve the diagnosis of this anomaly. Methods Thirty diagnosed or suspected HPE cases by prenatal ultrnsound were analyzed retrospectively from May 2001 to Nov. 2007. Intracranial structure, facial anomalies and other associated malformations were examined by prenatal ultrasound. Some received karyotyping or prenatal M-RI. Results HPE was confirmed in 25 cases (10 male and 15 female) through autopsy or follow-up and 5 were missed diagnosed or suspected as HPE by prenatal ultrasound, but hydroencephaly or porencephaly by autopsy. Alobar HPE was found in 21 cases in which ultrasound results were consistent with the final autopsy diagnosis. Semi-lobar HPE was detected in 4 cases. The diameters of the head were changed in 20 out of 24 cases(83.3%), especially 62.5% (15/24)with smaller BPD than the normal ones. The most common seen facial anomalies were midline anomalies (88.0%, 22/25) and all with ocular anomalies. Nasal anomalies were found in 11 cases, medial-cleft lip and/or palate in 11 eases and 10(40.0%) were assoeiated with complex congenital heart defects. Ten eases with HPE received karyotype and 5 were abnormal among which 4 with complex congenital heart defects. Conclusions Prenatal ultrasound is a useful tool in diagnosing HPE with highly accuracy. However, ultrasound itself fails in subtyping of HPE which can be compensated by MRL HPE is often associated with facial malformation and other multi-organ malformation, such as heart malformation. HPE is highly correlated with chromosomal abnormalities.

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