Pitfalls in prenatal diagnosis of DMD due to placental mosaicism of the X-chromosomes: prenatal and postnatal findings in a fetus with a deletion of exons 67-71 of the dystrophin gene

• Published in: Prenatal diagnosis 1999-01, Vol.19 (1), p.64-67
• Main Authors: Vondran, Sigrid, Edelmann, Jeanett, Holland, Heidrun, Wolf, Claudia, Strenge, Sibylle, Thamm, Barbara, Thiele, Hannelore, Froster, Ursula G.
• Format: Article
• Language: English
• Subjects: Abortion, Induced; Adult; Biological and medical sciences; Chorionic Villi - chemistry; DMD; Dystrophin - genetics; Exons; Female; Gynecology. Andrology. Obstetrics; Humans; Male; Management. Prenatal diagnosis; Medical sciences; Microsatellite Repeats; Minisatellite Repeats; Mosaicism; mosaicism of X-chromosomes confined to the placenta; Muscular Dystrophies - diagnosis; Muscular Dystrophies - genetics; Placenta; Polymerase Chain Reaction; Pregnancy; Pregnancy. Fetus. Placenta; Prenatal Diagnosis; Sequence Deletion; X Chromosome
• ISSN: 0197-3851; 1097-0223
• DOI: 10.1002/(SICI)1097-0223(199901)19:1<64::AID-PD464>3.0.CO;2-Z

Prenatal diagnosis of Duchenne and Becker muscular dystrophy (DMD) is performed as a routine procedure in many laboratories. The major potential problem is an incorrect diagnosis that could be obtained due to contamination with maternal tissue. We report a case of mosaicism of the X‐chromosomes confined to the placenta as a possible source of confusing results in prenatal diagnosis of DMD. To the best of our knowledge, this is the first reported case of this problem in a prenatal DMD diagnosis. Copyright © 1999 John Wiley & Sons, Ltd.