The Principles of Clinical Cytogenetics - Extra Materials - Springer

Prenatal Cytogenetics 317
145. van Vugt, J.M.G., van Zalen-Sprock, R.M., and Kostense, P.J. (1996) First-trimester nuchal translucency: a risk analysis
on fetal chromosome abnormality. Radiology 200, 537–540.
146. Pandya, P.P., Kondylios, A., Hilbert, L., Snijders, R.J.M., and Nicolaides, K.H. (1995) Chromosomal defects and
outcome in 1015 fetuses with increased nuchal translucency. Ultrasound Obstet. Gynecol. 5, 15–19.
147. Comas, C., Martinez, J.M., Ojuel, J., et al. (1995) First-trimester nuchal edema as a marker of aneuploidy. Ultrasound
Obstet. Gynecol. 5, 26–29.
148. Szabó, J., Gellén, J., and Szemere, G. (1995) First-trimester ultrasound screening for fetal aneuploidies in women over
35 and under 35 years of age. Ultrasound Obstet. Gynecol. 5, 161–163.
149. Brizot, M.L., Snijders, R.J.M., Butler, J., Bersinger, N.A., and Nicolaides, K.H. (1995) Maternal serum hCG and fetal
nuchal translucency thickness for the prediction of fetal trisomies in the first trimester of pregnancy. Br. J. Obstet.
Gynaecol. 102, 127–132.
150. Dugoff, L. (2002) Ultrasound diagnosis of structural abnormalities in the first trimester. Prenat. Diagn. 22, 316–320.
151. Sau, K., Langford, B., Auld, D., and Maxwell, A. (2003) Screening for trisomy 21: the significance of a positive
second trimester serum screen in women screen negative after a nuchal translucency scan. J. Obstet. Gynaecol.
21, 145–148.
152. Chen, C-P., Liu, F-F., Jan, S-W., Lee, C-C., Town, D-D., and Lan, C-C. (1996) Cytogenetic evaluation of cystic hygroma
associated with hydrops fetalis, oligohydramnios or intrauterine fetal death: the roles of amniocentesis, postmortem
chorionic villus sampling and cystic hygroma paracentesis. Acta Obstet. Gynecol. Scand. 75, 454–458.
153. Paladini, D., Calabro, R., Palmieri, S., and D’Andrea, T. (1993) Prenatal diagnosis of congenital heart disease and fetal
karyotyping. Obstet. Gynecol. 81, 679–682.
154. Bronshtein, M., Zimmer, E.Z., Gerlis, L.M., Lorber, A., and Drugan, A. (1993) Early ultrasound diagnosis of fetal
congenital heart defects in high-risk and low-risk pregnancies. Obstet. Gynecol. 82, 225–229.
155. Copel, J.A., Cullen, M., Green, J.J., Mahoney, M.J., Hobbins, J.C., and Kleinman, C.S. (1988) The frequency of aneuploidy
in prenatally diagnosed congenital heart disease: an indication for fetal karyotyping. Am. J. Obstet. Gynecol.
158, 409–412.
156. Raymond, F.L., Simpson, J.M., Mackie, C.M., and Sharland, G.K. (1997) Prenatal diagnosis of 22q11 deletions: a
series of five cases with congenital heart defects. J. Med. Genet. 34, 679–682.
157. Botto, L.D., May, K., Fernhoff, P.M., et al. (2003) A population-based study of the 22q11.2 deletion: phenotype,
incidence, and contribution to major birth defects in the population. Pediatrics 112, 101–107.
158. Schechter, A.G., Fakhry, J., Shapiro, L.R., and Gewitz, M.H. (1987) In utero thickening of the chordae tendinae: a
cause of intracardiac echogenic foci. J. Ultrasound Med. 6, 691–695.
159. Levy, D.W. and Minitz, M. C. (1988) The left ventricular echogenic focus: a normal finding. Am. J. Roentgenol. 150,
85–86.
160. Twining, P. (1993) Echogenic foci in the fetal heart: incidence and association with chromosomal disease. Ultrasound
Obstet. Gynecol. 190, 175 (abstract).
161. Petrikovsky, B.M., Challenger, M., and Wyse, L.J. (1995) Natural history of echogenic foci within ventricles of the
fetal heart. Ultrasound Obstet. Gynecol. 5, 92–94.
162. Bronshtein, M., Jakobi, P., and Ofir, C. (1996) Multiple fetal intracardiac echogenic foci: not always a benign
sonographic finding. Prenat. Diagn. 16, 131–135.
163. Bromley, B., Lieberman, E., Laboda, L., and Benacerraf, B.R. (1995) Echogenic intracardiac focus: a sonographic sign
for fetal Down syndrome. Obstet. Gynecol. 86, 998–1001.
164. Norton, M.E., Brown, P., and Ashour, A.M. (1997) Echogenic focus in the fetal heart as a risk factor for Down syndrome.
Am. Coll. Med. Genet. Fourth Annual Meeting A80, 159.
165. Ranzini, A.C., McLean, D.A., Sharma, S., and Vintzileos, A.M. (2001) Fetal intracardiac echogenic foci: visualization
depends on the orientation of the four-chamber view. J. Ultrasound Med. 20, 763–766.
166. Wax, J.R., Royer, D., Mather, J., et al. (2000) A preliminary study of sonographic grading of fetal intracardiac echogenic
foci: feasibility, reliability and association with aneuploidy. Ultrasound Obstet. Gynecol. 16, 123–127.
167. Prefumo, F., Presti, F., Thilaganathan, B., and Carvalho, J.S. (2003) Association between increased nuchal translucency
and second trimester cardiac echogenic foci. Obstet. Gynecol. 101, 899–904.
168. Cicero, S., Sonek, J.D., McKenna, D.S., Croom, C.S., Johnson, L., and Nicolaides, K.H. (2002) Nasal bone hypoplasia
in trisomy 21 at 15–22 weeks’ gestation. Ultrasound Obstet. Gynecol. 21, 15–18.
169. Larose, C., Massoc, P., Hillion, Y., Bernard, J.P., and Ville, Y. (2003) Comparison of fetal nasal bone assessment by
ultrasound at 11–14 weeks and by postmortem x-ray in trisomy 21: a prospective observational study. Ultrasound
Obstet. Gynecol. 22, 27–30.
170. Zoppi, M.A., Ibba, R.M., Axiana, C., Floris, M., Manca, F., and Monni, G. (2003) Absence of fetal nasal bone and
aneuploidies at first-trimester nuchal translucency screening in unselected pregnancies. Prenat. Diagn. 23, 496–500.
171. Cicero S., Longo, D., Rembouskos, G., Sacchini, C., Nicolaides, K.H. (2003) Absent nasal bone at 11–14 weeks of
gestation and chromosomal defects. Ultrasound Obstet Gynecol. 22, 31–35.
172. Orlando, F., Bilardo, C.M., Campogrande, M., et al. (2003) Measurement of nasal bone length at 11–14 weeks of
pregnancy and its potential role in Down syndrome risk assessment. Ultrasound Obstet. Gynecol. 22, 35–39.