• Lan Yao, Xun Kan, Yuxin Xia, Luyao Wang, Xueyu Zhao, and Yingli Lu.
• The Second Hospital of Jilin University, Changchun City, Jilin Province, China.
• Medicine (Baltimore). 2024 Mar 8; 103 (10): e37345e37345.

RationaleBecause of the normal phenotype, carriers of specific chromosomal translocations are often diagnosed only after their development of associated malignancies, recurrent miscarriages, and reproductive difficulties. In this paper, we report primary balanced fetal chromosomal translocations by performing the necessary invasive prenatal diagnosis in couples with previous malformations coupled with prenatal testing suggesting a high risk for trisomy 21.Patient ConcernsCase 1 and Case 2 couples had malformed children, and Case 3 couples had a high risk of trisomy 21 on noninvasive preconception serological testing.Diagnosis And InterventionA balanced chromosomal translocation diagnosis was confirmed by karyotyping of fetal cells obtained by amniocentesis.OutcomesAll 3 couples decided to continue their pregnancies after learning about the consequences of the chromosomal abnormalities. Approximately a year after the children were born, the staff of the Prenatal Diagnostic Center followed up with a phone call and found that the children physical development and intelligence were normal.LessonThis case report reports healthy chromosomal balanced translocation newborns born to couples with poor maternal history and couples with abnormalities suggested by preconception testing, and followed up with the newborns to provide some experience in prenatal diagnosis and genetic counseling for chromosomal balanced translocations.Copyright © 2024 the Author(s). Published by Wolters Kluwer Health, Inc.

19 keywords...

hide…