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46,XY,i(21q) identified by maternal serum screening
C M Meyers1, S Ghori, A E Roberson
1Department of obstetrics and gynecology and reproductive sciences, University of Maryland at Baltimore, USA.
Maryland Medical Journal (Baltimore, Md. : 1985)
|February 1, 1997
Summary
Maternal serum screening identified a rare case of fetal Down syndrome caused by an isochromosome 21q. This highlights the effectiveness of screening and the need for cytogenetic studies in genetic counseling.
Area of Science:
- Genetics
- Prenatal Diagnosis
- Maternal Serum Screening
Background:
- Maternal serum screening is a common method for detecting fetal Down syndrome.
- Prenatal diagnosis of Down syndrome impacts pregnancy management and future recurrence risk counseling.
- Isochromosome 21q is a rare chromosomal rearrangement that can cause Down syndrome.