Prenatal diagnosis and molecular cytogenetic characterization of a de novo deletion of 4q34.1→qter associated with low PAPP-A and low PlGF in the first-trimester maternal serum screening, congenital heart defect on fetal ultrasound and a false negative non-invasive prenatal testing (NIPT) result

• Main Authors: Chih-Ping Chen (Author), Shin-Wen Chen (Author), Liang-Kai Wang (Author), Schu-Rern Chern (Author), Peih-Shan Wu (Author), Fang-Tzu Wu (Author), Li-Feng Chen (Author), Wayseen Wang (Author)
• Format: Book
• Published: Elsevier, 2022-11-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Objective: We present prenatal diagnosis and molecular cytogenetic characterization of a de novo deletion of 4q34.1→qter associated with low pregnancy associated plasma protein-A (PAPP-A) and low placental growth factor (PlGF) in the first-trimester maternal serum screening, congenital heart defect...