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Prenatal diagnosis of agenesis of corpus callosum and its relationship with fetal chromosomal abnormalities

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Author:
No author available
Journal Title:
Chinese Journal of Obstetrics and Gynecology
Issue:
11
DOI:
10.3760/cma.j.issn.0529-567x.2013.11.003
Key Word:
胼胝体发育不全;磁共振成像;染色体畸变;产前诊断;Agenesis of the corpus callosum;Magnetic resonance imaging;Chromosome aberrations;Prenatal diagnosis

Abstract: Objectives To evaluate prenatal imaging diagnosis of agenesis of corpus callosum and to investigate the relationship between ACC and chromosomal abnormalities.Methods Forty singleton pregnancies diagnosed ACC prenatally in Southern Medical University,Nanfang Hospital,General Hospital of Guangzhou Military Command of PLA and Shenzhen Maternity and Children Health Care Hospital from 2007 to 2012 were recruited.The correlation between ACC and chromosomal abnormalities,the consistence of sonographic characteristics and MRI diagnosis were analyzed retrospectively.Results (1) Among the 40 cases,15 (38%,15/40) were diagnosed isolated ACC,while 25 (63%,25/40) were non-isolated ACC.In the non-isolated ACC cases,18 (72%) had central nervous system abnormalities,including cerebellar vermis hypoplasia,Dandy-Walker syndrome,cerebellar cyst,holoprosencephaly,etc.Extra-CNS abnormalities were identified in 16 cases,including 5 cardiac abnormalities,3 facial abnormalities,2 congenital anomalies of urinary system,1 limb skeletal abnormality and 5 other congenital anomalies.(2)In the 40 cases,3 were chromosomal polymorphisms,including 2 cases of 46,XX,1 qh + and 1 case of 46,XY,13cenh +.Chromosomal abnormalities were identified in 4 cases,including trisomy1 3,trisomyl8,trisomy 21 and 47,XYY.(3) 36 cases (90%,36/40) diagnosed by ultrasound were consistent with MRI,while 4 cases were different with MRI.37 pregnancies were terminatied,in which 28 cases were confirmed by fetal autopsy.3 cases continued pregancy and ACC was confirmed by postnatal MRI.(4) 25 non-isolated ACC and 12 isolated ACC pregnancies were terminated.Among the 3 isolated ACC cases that continued pregnancy,2 were term delivery and 1 was premature dilivery.All of them were confirmed by postnatal MRI.No mental or growth retardation was found during follow-up.Conclusion MRI was prior to detect cases with nonisolated ACC and could be a supplementay method in the diagnosis and classification of ACC.Compared with isolated ACC,non-isolated ACC had a higher incidence of chromosomal abnormalities.

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