Antenatal diagnosis of Patau syndrome with previous anomalous baby

Keerthi Kocherla, Vasantha Kocherla

Abstract


Patau syndrome is the least common and most severe of the viable autosomal trisomies with median survival of fewer than 3 days was first identified as a cytogenetic syndrome in 1960. Patau syndrome is caused by an extra copy of chromosome 13. In this case report, we present antenatal imaging findings & gross foetal specimen correlation of foetus with Patau syndrome confirmed by karyotyping in third gravida who had significant previous obstetric history of gastrochisis in monochorionic and monoamniotic twins who died at 14 weeks of gestation.


Keywords


Patau syndrome, Trisomy 13, Ultrasound, Polydactyly

Full Text:

PDF

References


Driscoll DA, Mennuti MT. Genetic defects and gene therapy. In: Spitzer AR, eds. Intensive Care of the Foetus and Neonate. 3rd ed. St Louis, Mo: Mosby; 1996: 164-177.

Matthews AL. Chromosomal abnormalities: trisomy 18, trisomy 13, deletions, and microdeletions. J Perinat Neonat Nurs. 1999;13:59-75.

Simpson JL, Elias S. Chromosomal abnormalities. In: Simpson JL, Elias S, eds. Genetics in Obstetrics and Gynaecology. 3rd ed. Philadelphia, Pa: WB Saunders; 2003: 3-38.

Roger C. Sanders. Foetal abnormalities: color figures. In: Sanders RC, Blackmon LR, Hogge WA, Wulfsberg EA, eds. Structural Foetal Abnormalities: The Total Picture. 1st ed. St Louis, Mo: Mosby; 1996: 3-5.

Plaiasu V, Ochiana D, Motei G, Anca I, Georgescu A. Clinical relevance of cytogenetics to paediatric practice. Postnatal findings of Patau syndrome - Review of 5 cases. Maedica (Buchar). 2010 Jul;5(3):178-85.

Gorlin RJ, Cohen Jr. MM, Hennekam RCM. Deformations and disruptions. In: Gorlin RJ, Cohen Jr. MM, Hennekam RCM, eds. Syndromes of the Head and Neck. 4th ed. Oxford: Oxford University Press; 2001: 1-13.

Beryl R. Benaceraf. Ultrasound evaluation of Chromosomal abnormalities. In: Peter W. Callen, eds. Ultrasonography in Obstetrics and Gynaecology. 4th ed. Philadelphia: WB Saunders; 2000: 53-55.

Chambers D. Trisomy 13. MedlinePlus, 2009. Available at: http://www.nlm.nih.gov/medlineplus/ency/article/001660.htm.

Lehman CD, Nyberg DA, Winter TC III, Kapur RP, Resta RG, Luthy DA. Trisomy 13 syndrome: prenatal us findings in review of 33 cases. Radiology. 1995;194:217.

Jone KL. Abnormalities in growth: kidney. In: Kenneth Lyons Jones, David W. Smith, eds. Smith’s Recognizable Patterns of Human Malformation. 5th ed. Philadelphia: WB Saunders; 1997: 30.

Jo Ann M. Johnson, David A. Nyberg. Chromosome abnormalities. In: Carol M. Rumack, Stephanic R. Wilson, eds. William Charboneau Diagnostic Ultrasound. 2nd ed. St Louis, Mo: Mosby; 1998: 1179.

Blackburn ST. Genetic and chromosomal disorders. In: Blackburn ST, eds. Maternal, Foetal, and Neonatal Physiology: A Clinical Perspective. 2nd ed. Philadelphia, Pa: WB Saunders; 2003: 1-33.

Chervenak FA, Isaacson G, Hobbins JC, Chitkara U, Tortora M, Berkowitz RL. Diagnosis and management of foetal holoprosencephaly. Obstet Gynaecol. 1985;66:322-6.

Fletcher MA. Head and neck region. In: Fletcher MA, eds. Physical Diagnosis in Neonatology. 3rd ed. Philadelphia, Pa: Lippincott-Raven; 1998: 173-236.