High-level mosaicism for 45,X in 45,X/46,XX at amniocentesis in a pregnancy with a favorable outcome and postnatal progressive decrease of the 45,X cell line

• Main Authors: Chih-Ping Chen (Author), Schu-Rern Chern (Author), Shin-Wen Chen (Author), Fang-Tzu Wu (Author), Chen-Chi Lee (Author), Yun-Yi Chen (Author), Wayseen Wang (Author)
• Format: Book
• Published: Elsevier, 2022-07-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Summary

Objective: We present prenatal diagnosis of high-level mosaicism for 45,X in 45,X/46,XX at amniocentesis in a pregnancy with a favorable outcome and postnatal progressive decrease of the 45,X cell line. Case report: A 32-year-old, gravida 2, para 1, woman underwent amniocentesis at 17 weeks of gestation because of the abnormal first-trimester maternal serum screening result indicating a 1/34 risk for Down syndrome. Amniocentesis revealed a karyotype of 45,X[27]/46,XX[15]. Simultaneous array comparative genomic hybridization (aCGH) on uncultured amniocytes revealed 12% mosaicism for monosomy X. Prenatal ultrasound was normal. The pregnancy was carried to term, and a 2780-g phenotypically normal female baby was delivered. The cord blood had a karyotype of 45,X[12]/46,XX[28]. At age one month, the peripheral blood had a karyotype of 45,X[13]/46,XX[27]. Interphase fluorescence in situ hybridization (FISH) analysis on the buccal mucosal cells revealed 2% (2/102 cells) mosaicism for monosomy X, compared with 1% (1/100 cells) in the normal control. When follow-up at age one year, she was doing well with normal physical and psychomotor development. Her body weight was 9.9 Kg (50th - 85th centile), and her body height was 75 cm (50th - 85th centile). The peripheral blood had a karyotype of 45,X[4]/46,XY[36]. Conclusion: High-level mosaicism for 45,X in 45,X/46,XX at amniocentesis can be associated with a favorable outcome and postnatal progressive decrease of the 45,X cell line.

Item Description

1028-4559
10.1016/j.tjog.2022.05.008