Abstract
Objective
We present a rare case of trisomy 18 of maternal origin in a pregnancy with omphalocele, craniorachischisis, and ectopia cordis.
Case report
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.
Conclusion
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.
Introduction
It is known that there is an association between trisomy 18 and neural tube defects (NTD) as well as omphalocele and ectopia cordis (EC). However, the rare occurrence of severe forms of NTD, such as craniorachischisis (CRN), combined with omphalocele and ectopia cordis, is not commonly observed in trisomy 18. The combination of concomitant CRN and omphalocele in the setting of trisomy 18 has only been reported three times [ ], with no known reported case of simultaneous EC. Here, we contribute a clinical report of concomitant omphalocele, EC and CRN in a female trisomy 18 fetus to the literature.
Case report
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 ( Fig. 1 ), 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, 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 interrupted 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 ( Fig. 2 ). 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 ( Fig. 3 ). Polymorphic DNA marker analysis by quantitative fluorescent polymerase chain reaction (QF-PCR) assays showed a maternal origin of the extra chromosome 18 ( Fig. 4 ).
