Title

Sonographic and maternal serum screening abnormalities in fetuses affected by spinal muscular atrophy

Document Type

Article

Peer Reviewed

1

Publication Date

2-1-1997

NLM Title Abbreviation

Prenat Diagn

Journal/Book/Conference Title

Prenatal diagnosis

PubMed ID

9061766

Abstract

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.

Keywords

Chorionic Gonadotropin/blood, Chorionic Villi Sampling, DNA/analysis, Estriol/blood, Female, Humans, Muscular Atrophy, Spinal/blood/genetics/ultrasonography, Polymerase Chain Reaction, Pregnancy, Ultrasonography, Prenatal, alpha-Fetoproteins/analysis

Published Article/Book Citation

Prenatal diagnosis, 17:2 (1997) pp.166-169.

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URL

http://ir.uiowa.edu/obgyn_pubs/875