The association of increased fetal nuchal translucency and spinal muscular atrophy type I

Prenatal Diagnosis

Volumn 19, Issue 6, 1999, Pages 587-589

  Stiller, Robert J ^a   Lieberson, Dara ^a   Herzlinger, Robert ^a   Siddiqui, Danish ^a   Laifer, Steven A ^a   Whetham, John C G ^a  

^a BRIDGEPORT HOSPITAL   (United States)

Author keywords

Fetal nuchal translucency; Spinal muscular atrophy

Indexed keywords

ARTICLE; CASE REPORT; EARLY DIAGNOSIS; FETUS; FETUS ECHOGRAPHY; GESTATIONAL AGE; HUMAN; MALE; NECK; NEWBORN; PRIORITY JOURNAL; SPINAL MUSCULAR ATROPHY;

ADULT; FATAL OUTCOME; FEMALE; HUMANS; INFANT, NEWBORN; MALE; NECK; PREGNANCY; SPINAL MUSCULAR ATROPHIES OF CHILDHOOD; ULTRASONOGRAPHY, PRENATAL;

EID: 0032974559     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1097-0223(199906)19:6<587::AID-PD584>3.0.CO;2-A     Document Type: Article

References (10)

1. Bilardo CM, Pajkrt E, de Graaf I, Mol BW, Bleker OP. 1998. Outcome of fetuses with enlarged nuchal translucency and normal karyotype. Ultrasound Obstet Gynecol 11: 401-406.
2. Brahe C, Bertini E. 1996. Spinal muscular atrophies: recent insights and impact on molecular diagnosis. J Mol Med 74: 555-562.
3. Nicolaides KH, Azar G, Byrne D, Mansur CA, Marks K. 1992. Fetal nuchal translucency: ultrasound screening for chromosomal defects in the first trimester of pregnancy. Br Med J 304: 867-869.
4. Rijhsinghani A, Yankowitz J, Howser D, Williamson R. 1997. Sonographic and maternal serum screening abnormalities in fetuses affected by spinal muscular atrophy. Prenat Diag 17: 166-169.
5. Rodrigues NR, Owen N, Talbot K, Patel S, Muntoni F, Ignatius J, Dubowitz V, Davies KE. 1996. Gene deletions in spinal muscular atrophy. J Med Genet 33: 93-96.
6. Sarnat HB. 1996. Spinal muscular atrophies. In: Nelson WE, Behrman RE, Kliegman RM, Arvin AM (eds) Nelson Textbook of Pediatrics, 15th edition, Philadelphia: W. B. Saunders; 1757-1758.
7. Shulman LP, Emerson DS, Grevengood C, Felker RE, Gross SJ, Phillips OP, Elias S. 1994. Clinical course and outcome of fetuses with isolated cystic nuchal lesions and normal karyotypes detected in the first trimester. Am J Obstet Gynecol 171: 1278-1281.
8. Souka AP, Snijders RJM, Novakov A, Soares W, Nicolaides KH. 1998. Defects and syndromes in chromosomally normal fetuses with increased nuchal translucency. Ultrasound Obstet Gynecol 11: 391-400.
9. Trauffer PML, Anderson C, Johnson A, Heeger S, Morgan P, Wapner RJ. 1994. The natural history of euploid pregnancies with first trimester cystic hygroma. Am J Obstet Gynecol 170: 1279-1284.
10. Van Vugt JMG, Tinnemans BWS, Van Zalen-Sprock RM. 1998. Outcome and early childhood follow-up of chromosomally normal fetuses with increased nuchal translucency at 10-14 weeks' gestation. Ultrasound Obstet Gynecol 11: 407-409.