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SONOGRAPHIC AND MATERNAL SERUM SCREENING ABNORMALITIES IN FETUSES AFFECTED BY SPINAL MUSCULAR ATROPHY
Author(s) -
RIJHSINGHANI ASHA,
YANKOWITZ JEROME,
HOWSER DONALD,
WILLIAMSON ROGER
Publication year - 1997
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/(sici)1097-0223(199702)17:2<166::aid-pd14>3.0.co;2-d
Subject(s) - spinal muscular atrophy , sma* , medicine , prenatal diagnosis , fetus , chorionic villus sampling , pathology , atrophy , chorionic villi , gestation , pregnancy , genotype , obstetrics , biology , genetics , disease , mathematics , combinatorics , gene
Fetuses with degenerative neurological disorders or metabolic diseases rarely exhibit sonographic abnormalities. As a result, prenatal diagnosis, when available, requires invasive testing. Prenatal diagnosis of spinal muscular atrophy (SMA) can be made by testing chorionic villi or amniocytes. Indirect genotype analysis by use of single‐ and multi‐locus polymorphic microsatellites of the region 5q11.2–q13.3 is used. We present two cases of SMA that manifested at 11 and 16 weeks' gestation by the presence of abnormal ultrasound findings. Each case also had abnormal maternal serum screening. © 1997 by John Wiley & Sons, Ltd.