Prenatal Diagnosis of a Trisomy 13 Case Associated with Holoprosencephaly by Ultrasonography and Quantitative Fluorescent PCR

References (14)

1. Patau K. Multiple congenital anomaly caused by an extra chromosome. Lancet 1: 790-795, 1960
2. Jones ICL. Smith’s recognizable patterns of human malformation. Saunders. Philadelphia-London 1997, pp: 18-19
3. Tongsong T, Sirichotiyakul S, Wanapirak C et al. Sonographic features of trisomy 13 at midpregnancy. Int J Gynaecol Obstet 76: 143-148, 2002
4. Croen LA, Shaw GM, Lammer EJ. Holoprosencephaly: epidemiologic and clinical characteristics of a California population. Am J Med Genet 64: 465–472, 1996
5. Oslen CL, Hughes JP, Youngblood LG et al. Epidemiology of holoprosencephaly and phenotypic characteristics of affected children: New York State, 1984–1989. Am J Med Genet 73: 217–226, 1997
6. Phadke SR, Thakur S. Prenatal diagnosis of iniencephaly and alobar holoprosencephaly with trisomy 13 mosaicism: a case report. Prenat Diagn 22: 1240-1241, 2002
7. Schmidt W, Jenderny J, Hecher K et al. Detection of aneuploidy in chromosomes X, Y, 13, 18 and 21 by QF-PCR in 662 selected pregnancies at risk. Mol Hum Reprod 6: 855-860, 2000
8. Hulten MA, Dhanjal S, Pertl B. Rapid and simple prenatal diagnosis of common chromosome disorders: advantages and disadvantages of the molecular methods FISH and QF-PCR. Reproduction 126: 279-297, 2003
9. Cirigliano V, Voglino G, Canadas MP et al. Rapid prenatal diagnosis of common chromosome aneuploidies by QF-PCR. Assessment on 18,000 consecutive clinical samples. Mol Hum Reprod 10: 839-846, 2004
10. Mann K, Donaghue C, Fox SP et al. Strategies for the rapid prenatal diagnosis of chromosome aneuploidy. Eur J Hum Genet 12: 907-15, 2004
11. Ogilvie CM, Donaghue C, Fox SP et al. Rapid prenatal diagnosis of aneuploidy using quantitative fluorescence-PCR (QF-PCR). J Histochem Cytochem 3: 285-8, 2005
12. Nicolini U, Lalatta F, Natacci F et al. The introduction of QF-PCR in prenatal diagnosis of fetal aneuploidies: time for reconsideration. Hum Reprod Update 10: 541-8, 2004
13. Leung WC, Waters JJ, Chitty L. Prenatal diagnosis by rapid aneuploidy detection and karyotyping: a prospective study of the role of ultrasound in 1589 second-trimester amniocenteses. Prenat Diagn. 24: 790-5, 2004
14. Quaife R, Wong LF, Tan SY et al. QF-PCR-based prenatal detection of aneuploidy in a southeast Asian population. Prenat Diagn 24: 407-13, 2004.