American Journal.of Medical Genetics 36:590 (1990)
Letter to the Editor Chromosomal Abnormality Associated With Congenital Heart Defect To the Editor: Eriksen et al. 119891quote a 5% incidence of chromosomal abnormalities in patients with congenital heart defects. This oft-quoted figure is lower than what has been found in a recent prospective study. Ferencz et al. [19891detected a chromosomal abnormality in 12.9%of 2102 infants with cardiovascular malformations ascertained in their population-based case-control study. Using these data, Berg et al. [19881adjusted the known frequency of aneuploidy in liveborn infants with congenital cardiovascular malformations by the reported rate of spontaneous abortion and estimated a risk as high as 40% for congenital cardiovascular malformations detected at 18-20 weeks gestation. In other words, the risk of chromosomal abnormality associated with a congenital heart defect is approximately threefold greater than that risk in liveborn infants with congenital heart defects. On the basis of this finding, the au-
Address reprint requests to Dr. Angela E. Lin, Department of Medical Genetics, West Penn Hospital, Pittsburgh, Pennsylvania. Accepted for publication March 14, 1989.
0 1990 Wiley-Liss, Inc.
thors recommended cytogenetic analysis in any fetus with echo-diagnosed congenital heart defect.
REFERENCES Berg KA, Clark EB, Astemborski JA, Boughman JA (1988):Prenatal detection of cardiovascular malformations by echocardiography: An indication for cytogenetic evaluation. Am J Obstet Gynecol 159:477-481. Eriksen NL, Buttino L, Juberg RC (1989):Congenital pulmonary atresia with intact ventricular septum, tricuspid insufficiency, and patent ductus arteriosus in two sibs. Am J Med Genet 32:187-188. Ferencz C, Neil1 CA, Boughman JA, Ruhin JD, Brenner JI, Perry LW (1989): Congenital cardiovascular malformations associated with chromosome abnormalities: An epidemiologic study. J Pediatr 114:79-86.
Angela E. Lin Department of Medical Genetics West Penn Hospital Pittsburgh, Pennsylvania 15224
Letter to the Editor Chromosomal Abnormality Associated With Congenital Heart Defect To the Editor: Eriksen et al. 119891quote a 5% incidence of chromosomal abnormalities in patients with congenital heart defects. This oft-quoted figure is lower than what has been found in a recent prospective study. Ferencz et al. [19891detected a chromosomal abnormality in 12.9%of 2102 infants with cardiovascular malformations ascertained in their population-based case-control study. Using these data, Berg et al. [19881adjusted the known frequency of aneuploidy in liveborn infants with congenital cardiovascular malformations by the reported rate of spontaneous abortion and estimated a risk as high as 40% for congenital cardiovascular malformations detected at 18-20 weeks gestation. In other words, the risk of chromosomal abnormality associated with a congenital heart defect is approximately threefold greater than that risk in liveborn infants with congenital heart defects. On the basis of this finding, the au-
Address reprint requests to Dr. Angela E. Lin, Department of Medical Genetics, West Penn Hospital, Pittsburgh, Pennsylvania. Accepted for publication March 14, 1989.
0 1990 Wiley-Liss, Inc.
thors recommended cytogenetic analysis in any fetus with echo-diagnosed congenital heart defect.
REFERENCES Berg KA, Clark EB, Astemborski JA, Boughman JA (1988):Prenatal detection of cardiovascular malformations by echocardiography: An indication for cytogenetic evaluation. Am J Obstet Gynecol 159:477-481. Eriksen NL, Buttino L, Juberg RC (1989):Congenital pulmonary atresia with intact ventricular septum, tricuspid insufficiency, and patent ductus arteriosus in two sibs. Am J Med Genet 32:187-188. Ferencz C, Neil1 CA, Boughman JA, Ruhin JD, Brenner JI, Perry LW (1989): Congenital cardiovascular malformations associated with chromosome abnormalities: An epidemiologic study. J Pediatr 114:79-86.
Angela E. Lin Department of Medical Genetics West Penn Hospital Pittsburgh, Pennsylvania 15224
