Concomitant omphalocele, craniorachischisis and ectopic cordis associated with trisomy 18 diagnosed in first trimester.

Objective: We present a rare case of trisomy 18 of maternal origin in a pregnancy with omphalocele, craniorachischisis, and ectopia cordis.

Methods: A 38-year-old woman, G3P1A1, was diagnosed with fetal anencephaly, an extrathoracic heart (ectopic cordis), deformity of spine and a stomach-and-intestine-containing omphalocele by prenatal ultrasound at 12 weeks of gestation. The patient's husband was 39 years old and healthy. The patient had no significant past medical history. She was a nonsmoker, with a pre-pregnancy BMI of 23.7 and was not diabetic. There was no family history of malformations, diseases, or teratogenic medication. The patient had not received assisted reproductive technology during this pregnancy. The pregnancy was terminated in the 13th gestational week. Additional anomalies detected after termination of the pregnancy included small and triangular face, abnormal posturing of hands, clubfoot and craniorachischisis. Crown-heel length was 5.5 cm consistent with a 12-13-week gestational age. Postnatal cytogenetic analysis of chorionic villi obtained by placental sampling revealed a karyotype of 47, XX + 18. Polymorphic DNA marker analysis by quantitative fluorescent polymerase chain reaction (QF-PCR) assays showed a maternal origin of the extra chromosome 18.

Conclusions: The concomitant omphalocele, ectopia cordis and craniorachischisis may be related to trisomy 18. Genetic analysis of the postmortem tissue and the analysis of the parental origin of the extra chromosome 18 using QF-PCR, provide valuable information for genetic counseling.