Korean J Lab Med.  2003 Feb;23(1):67-69.

Prenatal Diagnosis of Recurrent Trisomy 18 Syndrome

Affiliations
  • 1Department of Laboratory Medicine, Dong-A University College of Medicine, Busan Korea. jyhan@daunet.donga.ac.kr
  • 2Department of Obstetrics and Gynecology, Dong-A University College of Medicine, Busan Korea.
  • 3Department of Pediatrics, Eulji School of Medicine, Daejeon, Korea.
  • 4School of Molecular Biosciences, Washington State University, Spokane, Washington, USA.

Abstract

Though data on the recurrent risk after the birth of one fetus or infant with trisomy 18 is sparse, it has been presumed that the recurrence risk would be lower than the 1% for full trisomy 21 syndrome cases. We report a rare recurrent trisomy 18 found in amniocentesis in a family in which both parents had normal blood karyotype. Molecular analysis was undertaken in the second episode of trisomy 18 and a maternal meiosis II nondisjunction error was diagnosed.

Keyword

Trisomy 18; Recurrence; Prenatal diagnosis; Amniocentesis; Maternal meiotic nondisjunction

MeSH Terms

Amniocentesis
Down Syndrome
Fetus
Humans
Infant
Karyotype
Meiosis
Parents
Parturition
Prenatal Diagnosis*
Recurrence
Trisomy*
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