2025 Volume 61 Issue 2 Pages 318-323
We report two cases of ring chromosomes with fetal ultrasound abronalities that were prenatally diagnosed by amniocentesis. Case1 is 28-year-old woman, gravida 2, para 1, conceived spontaneously. She presented to our hospital at 18 weeks gestation with fetal edema and fetal growth restriction. The fetus was diagnosed with ring chromosome 13 on amniocentesis. After genetic counseling, the couple opted for an abortion and delivered a 422g male baby at 21 weeks 4 days gestation. Case2 is 38-year-old woman, gravida 1, para 0, conceived by in vitro fertization. She presented to our hospital at 15 weeks gestation with cystic hygroma and fetal growth restriction. The fetus was diagnosed with ring chromosome 15 on amniocentesis. After genetic counseling, the couple opted for an abortion and delivered a 174g male baby at 20 weeks 2 days gestation.
Ring chromosome 13 and 15 are rare genetic disorder, the phenotypes vary from mild to severe because of the site of deletion. Therefore, it is important to provide appropriate information based on the deletion site and ultrasonography findings to encourage parents to make decisions.
