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Prenatal diagnosis of a fetus with a ring chromosome 20 characterized by array-CGH

Pietro Cignini¹, Nella Dugo, Claudio Giorlandino

¹Department of Prenatal Diagnosis, Artemisia Fetal-Maternal Medical Center, Rome, Italy.

Journal of Prenatal Medicine

|December 29, 2012

Abstract

Objective:

a fetus with a ring chromosome 20 is presented.

Methods:

at 16 weeks' gestation, ultrasound examination evidenced no apparent structural malformation. Amniocentesis was performed for maternal anxiety.

Results:

chromosome analysis identified a ring chromosome 20 and array-CGH demonstrated that the ring including micro-deletion of the short arm in 20p13, that was extended for about 632.2 kb and a micro-deletion of the long arm in 20q13.33 region.

Conclusion:

this is the first case of a ring chromosome 20 diagnosed prenatally. This reinforces the importance of offering amniocentesis with a-CGH to make more accurate prenatal diagnosis.

Keywords:

array-CGH ring chromosome

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