title: Preserved umbilical cord facilitates antenatal diagnosis of spinal muscular atrophy.
abstract: Spinal Muscular atrophy (SMA) Type I is a fatal autosomal recessive disease caused by homozygous deletion of telometric region of exon 7/8 of the SMN gene. Prenatal diagnosis is feasible and desirable by most families. We report on prenatal diagnosis of SMAI in a family where dried umbilical cord stump from the deceased affected baby was used to confirm the diagnosis. Prenatal diagnosis was provided in the subsequent pregnancy. We emphasize the need for storing DNA from individuals affected with suspected single gene disorders.
authors.affiliation: Divisions of Genetics and Neonatology, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi - 110 029, India. madhulikakabra@hotmail.com
authors.forename: Madhulika
authors.initials: M
authors.lastname: Kabra
authors.forename: Sadhna
authors.initials: S
authors.lastname: Arora
authors.forename: Arti
authors.initials: A
authors.lastname: Maria
authors.forename: Rajiv
authors.initials: R
authors.lastname: Aggarwal
mesh_terms: D000328:Adult; D005260:Female; D006801:Humans; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D014897:Spinal Muscular Atrophies of Childhood / Q000175:diagnosis* / Q000235:genetics*; D014021:Tissue Preservation; D014470:Umbilical Cord