Areas of Interest
Clinical diagnoses of genetic disorders are carried out by the
clinical Human Genetics Laboratories in the Division of Human
Genetics, Department of Genetics and Developmental Biology.
Women at high risk for fetal aneuploidy are identified through
the laboratories’ maternal serum screening program. The
cytogenetics laboratory provides prenatal diagnosis by
karyotyping amniotic fluid cells and chorionic villus samples.
Cancer diagnosis and prognosis is carried out through the
identification of specific chromosome translocations and other
chromosome abnormalities present in leukemias, lymphomas, and
solid tumors. Cytogenetic testing is also carried out to
identify chromosome abnormalities associated with a variety of
clinically defined syndromes and is also available for
individuals with a history of infertility or recurrent pregnancy
loss. Techniques used in the laboratory include karyotyping,
fluorescence in situ hybridization (FISH), various molecular and
clinical chemistry tests. We actively seek enhancements to these
services and the development of new molecular approaches to the
diagnosis of genetic disease.
Recent research activities have focused on the development of
improved prenatal screening tests for Down syndrome and other
clinically significant aneuploidies. Recent studies have shown
that the combination of maternal serum screening and various
fetal biometric measurements obtained by ultrasonography can
substantially improve the efficacy of screening. Studies have
been carried out on the prevalence of aneuploidy and
mathematical models developed that allow the estimation of the
detection rates and false-positive rates of screening protocols.
Other research pursuits include an evaluation of the
significance of prenatally detected mosaicism, and in
particular, trisomy 16 mosaicism. The preferential involvement
of telomeres in the chromosome rearrangements present in aging
human cells is also a long-term interest.
Selected Publications
Benn PA and Hsu. LYF. Prenatal diagnosis of chromosome
abnormalities through amniocentesis. In, Genetic disorders and
the fetus. Ed. Milunsky, A. Fifth Edition. 2004. p 214-296.
Benn P. (2003). Improved antenatal screening for Down
syndrome. Lancet. 361;794-5.
Benn PA, Ying J. (2003). Preliminary estimate for the
second-trimester maternal serum screening detection rate of the
45,X karyotype using α-fetoprotein, unconjugated estriol and
human chorionic gonadotropin. J Mat-Fetal Neonat Med. 14:1-6.
Souter VL, Nyberg DA, Benn PA, Zebelman A, Luthardt F, Luthy
DA. (2004) Correlation of second-trimester sonographic and
biochemical markers. J Ultrasound Med. 23;505-511.
Pinette MG, Egan JFX, Wax JR, Blackstone J, Cartin, A, Benn
PA. (2003). Combined sonographic and biochemical markers for
Down syndrome screening. J Ultrasound Med. 22; 1185-1190.
Benn PA, Fang M, Egan JFX, Horne D, Collins R. (2003).
Incorporation of Inhibin-A in second-trimester screening for
Down syndrome. Obstet Gynecol 101; 451-454.
Abbott MA, Benn PA. (2002). Prenatal genetic diagnosis of
Down syndrome. Expert Review of Molecular Diagnostics. 2; 89-99.
Benn PA. (2002). Advances in prenatal screening for Down
syndrome: I general principles and second trimester testing.
Clinica Chimica Acta.323:1-16.
Benn PA. (2002). Advances in prenatal screening for Down
syndrome: II first trimester testing and future directions.
Clinica Chimica Acta.324:1-11.
Benn, Kaminsky LM, Ying J, Borgida AF, Egan JFX. (2002).
Combined second trimester biochemical and ultrasound screening
for Down syndrome. Obstet Gynecol. 100 ; 1168-76.
Egan JFX, Kaminsky LM, DeRoche ME, Barsoom MJ, Borgida AF,
Benn PA. (2002). Antenatal Down syndrome screening in the U. S.
in 2001: A survey of maternal-fetal medicine specialists. Am J
Obstet Gynecol. 187; 1230-4.
Benn PA, Egan JFX, Ingardia CJ. (2002). Extreme second
trimester serum analytes in Down syndrome pregnancies with
hydrops fetalis. J Mat-Fetal Neonat Med; 11:1-4.
Egan JFX, Malakh L, Turner G, Markenson G, Wax J, Benn PA.
(2001). Role of ultrasound for Down syndrome screening of the
advanced maternal age population. Am J Obstet Gynecol;
185:1028-31.
Benn PA, Gainey A, Ingardia CJ, Rodis JF, Egan JFX. (2001)
Second trimester maternal serum analytes in triploid
pregnancies: correlation with phenotype and sex chromosome
complement. Prenat Diagn. 21; 680-686.
Benn PA, Collins R. (2001). Evaluation of analytical
precision in maternal serum screening for Down syndrome. Ann
Clin Biochem. 38, 28-36.
Benn PA, Ying J, Beazoglou T, Egan JFX. (2001). Estimates for
the sensitivity and false-positive rates for second trimester
serum screening for Down syndrome and trisomy 18 with adjustment
for cross-identification and double-positive results. Prenatal
Diagnosis, 21, 46-51.
Egan JFX, Benn PA, Borgida A, Rodis JF, Campbell WA,
Vintzileos AM. (2000). Efficacy of screening for fetal Down
syndrome in the US from 1974 to 1997. Obstetrics and Gynecology,
96, 979-85.
Chen J, Heffley D, Beazoglou T, Benn PA. (2000). Utilization
of amniocentesis by women screen-positive for Down syndrome by
the second trimester triple test. Community Genetics, 3, 24-30. |
