Biomaterial Database

Spinal Muscular Atrophy: Inheritance, Screening, and Counseling for the Obstetric Provider. 2021

Maeve K Hopkins, and Lorraine Dugoff, and Jeffrey A Kuller

Fellow, Division of Maternal Fetal Medicine.

OBJECTIVE Spinal muscular atrophy (SMA) confers significant risk of neonatal and infant morbidity and mortality. Screening women during or before pregnancy for carrier status of SMA presents an opportunity to identify pregnancies at risk for this potentially devastating condition. OBJECTIVE The objective of this review is to describe the different forms of SMA and their inheritance. In addition, this review guides obstetric providers in interpreting results of carrier screening. METHODS A MEDLINE search of "prenatal genetic testing," "spinal muscular atrophy," and "inheritance of spinal muscular atrophy" in the review was performed. RESULTS The evidence cited in this review includes 4 medical society committee opinions and 14 additional peer-reviewed journal articles that were original research or expert opinion summaries. CONCLUSIONS Spinal muscular atrophy is a severe, heterogeneous neurodegenerative disorder. The American College of Obstetricians and Gynecologists recommends that obstetricians offer carrier screening for SMA to all pregnant women. Given the different types and inheritance of SMA, understanding of the disease and interpreting carrier screening results is of paramount importance to the prenatal care provider.

UI	MeSH Term	Description	Entries
D008403	Mass Screening	Organized periodic procedures performed on large groups of people for the purpose of detecting disease.	Screening,Mass Screenings,Screening, Mass,Screenings,Screenings, Mass
D009134	Muscular Atrophy, Spinal	A group of disorders marked by progressive degeneration of motor neurons in the spinal cord resulting in weakness and muscular atrophy, usually without evidence of injury to the corticospinal tracts. Diseases in this category include Werdnig-Hoffmann disease and later onset SPINAL MUSCULAR ATROPHIES OF CHILDHOOD, most of which are hereditary. (Adams et al., Principles of Neurology, 6th ed, p1089)	Bulbospinal Neuronopathy,Oculopharyngeal Spinal Muscular Atrophy,Progressive Muscular Atrophy,Scapuloperoneal Form of Spinal Muscular Atrophy,Spinal Muscular Atrophy,Adult Spinal Muscular Atrophy,Adult-Onset Spinal Muscular Atrophy,Amyotrophy, Neurogenic Scapuloperoneal, New England Type,Distal Spinal Muscular Atrophy,Hereditary Motor Neuronopathy,Muscular Atrophy, Adult Spinal,Myelopathic Muscular Atrophy,Myelopathic Muscular Atrophy, Progressive,Progressive Myelopathic Muscular Atrophy,Progressive Proximal Myelopathic Muscular Atrophy,Proximal Myelopathic Muscular Atrophy, Progressive,Scapuloperoneal Spinal Muscular Atrophy,Spinal Amyotrophy,Spinal Muscular Atrophy, Distal,Spinal Muscular Atrophy, Oculopharyngeal,Spinal Muscular Atrophy, Scapuloperoneal,Spinal Muscular Atrophy, Scapuloperoneal Form,Adult Onset Spinal Muscular Atrophy,Amyotrophies, Spinal,Amyotrophy, Spinal,Atrophies, Progressive Muscular,Atrophy, Myelopathic Muscular,Atrophy, Progressive Muscular,Atrophy, Spinal Muscular,Bulbospinal Neuronopathies,Hereditary Motor Neuronopathies,Motor Neuronopathies, Hereditary,Motor Neuronopathy, Hereditary,Muscular Atrophies, Progressive,Muscular Atrophy, Myelopathic,Muscular Atrophy, Progressive,Neuronopathies, Bulbospinal,Neuronopathies, Hereditary Motor,Neuronopathy, Bulbospinal,Neuronopathy, Hereditary Motor,Progressive Muscular Atrophies,Spinal Amyotrophies
D011247	Pregnancy	The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH.	Gestation,Pregnancies
D011295	Prenatal Care	Care provided the pregnant woman in order to prevent complications, and decrease the incidence of maternal and prenatal mortality.	Antenatal Care,Care, Antenatal,Care, Prenatal
D005260	Female		Females
D005817	Genetic Counseling	An educational process that provides information and advice to individuals or families about a genetic condition that may affect them. The purpose is to help individuals make informed decisions about marriage, reproduction, and other health management issues based on information about the genetic disease, the available diagnostic tests, and management programs. Psychosocial support is usually offered.	Counseling, Genetic,Genetic Counseling, Prenatal,Prenatal Genetic Counseling
D006580	Genetic Carrier Screening	Identification of individuals who are heterozygous at a GENETIC LOCUS for a recessive PHENOTYPE.	Carriers, Genetic, Detection,Genetic Carriers, Detection,Heterozygote Detection,Carrier Detection, Genetic,Detection, Genetic Carrier,Genetic Carrier Detection,Heterozygote Screening,Carrier Screening, Genetic,Detection, Heterozygote,Screening, Genetic Carrier,Screening, Heterozygote,Screenings, Genetic Carrier
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man