First-trimester application of expanded non-invasive prenatal testing in the genetic investigation of fetal 1p36 deletion syndrome associated with a familial unbalanced reciprocal translocation of 46,XX,der(1)t(1;2) (p36.2;q37.3)dmat

• Main Authors: Chih-Ping Chen (Author), Shun-Long Weng (Author), Fang-Tzu Wu (Author), Peih-Shan Wu (Author), Yen-Ting Pan (Author), Wen-Lin Chen (Author), Chien-Wen Yang (Author), Wayseen Wang (Author)
• Format: Book
• Published: Elsevier, 2024-11-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Objective: We present first-trimester application of expanded non-invasive prenatal testing (NIPT) in the genetic investigation of fetal 1p36 deletion syndrome associated with a familial unbalanced reciprocal translocation of 46,XX,der(1)t(1;2) (p36.2;q37.3)dmat. Case report: A 37-year-old, gravida...