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Chromosome Analysis For Anencephaly
Chromosome Analysis For Anencephaly
Results Table 1.
Anencephaly Cases With Abnormal Karyotypes
Total 20
Bird LM, Pretorius DH, Mendoza AE, Jones MC. Anencephaly with holoprosencephalic facies due to ring chromosome 18. Clin Dysmorphol 1997 Oct;6(4):351-8.
tance, have been reported to occur in the literature. However, our data indicates Claussen, U, Ulmer, R, Beinder, E, Vorot, JJ. Six years' experience with rapid karyotyping in prenatal diagnosis: Correlations between phenotype detected by ultrasound and fetal karyotype. Prenat Diagn 1994 14: 113-121.
Drugan, A, Johnson, MP, Dvorin, E, Moody, J, Krivchenia, EL, Schwartz, D, Evans, MI. Aneuploidy with neural tube defects: Another reason for complete evaluation in patients with suspected ultrasound anomalies or elevated maternal
that a significant number of cases of "isolated anencephaly" can been found in serum alpha-fetoprotein. Fetal Ther 1989 4: 88-92.
Halliday, J, Lumley, J, Bankier, A. Karyotype abnormalities in fetuses diagnosed as abnormal on ultrasound before 20 weeks' gestational age. Prenat Diagn 1994 14: 689-697.
the presence of a specific chromosome abnormality. Harmon JP, Hiett AK, Palmer CG, Golichowski AM. Prenatal ultrasound detection of isolated neural tube defects: is cytogenetic evaluation warranted? Obstet Gynecol 1995 Oct(4 Pt 1):595-9.
Hume,RF, Drugan, A, Reichler, A, Lampinen, J, Martin, LS, Johnson, MP, Evans, MI. Aneuploidy among prenatally detected neural tube defects. Am J Med Genet 1996 61:171-173.
Kennedy, D, Chitayat, D, Winsor, EJ, Silver, M, Toi, A. Prenatally diagnosed neural tube defects: Ultrasound, Chromosome, and autopsy or postnatal findings in 212 cases. Am J Med Genet 1998 77:317-321.
Multiple anomalies seen in addition to an NTD on prenatal ultrasound can sug- O'Reilly GC, Shields LE. Karyotyping for isolated neural tube defects. A case report of two . J Reprod Med 2000 Nov; 45(11):950-2.
gest a malformation syndrome and, in these instances, chromosome evaluation is Plaja A, Vendrell T, Sarret E, Toran N, Mediano C. Terminal deletion of Xp in a dysmorphic anencephalic fetus. Prenat Diagn 1994 May; 14(5):410-2.
Singer N,Gersen S, Warburton D. The value of chromosome analysis in cases of neural tube defects: A case of anencephaly associated with fetal dup(2)(p24---pter). Prenat Diagn 1987 Oct; 7(8):567-71.
certainly indicated. However, ultrasonography has certain limitations in screening Steinhaus KA, Bernstein R, Bocian ME. Importance of accurate diagnosis in counseling for neural tube defects diagnosed prenatally. Clin Genet 1991 May; 39(5):355-61.
Winsor SH, McGrath MJ, Khalifa M, Duncan AM. A report of recurrent anencephaly with trisomy 2p23-2pter: additional evidence for the involvement of 2p24 in neural tube development and evaluation of the role for cytogenetic analysis.
for malformation syndromes due to findings too subtle to be detected, genetic Prenat Diagn 1997 Jul:17(7):665-9