|
Faculty Peter Benn
Professor of Genetics and Developmental Biology
Director, Diagnostic Human Genetics Laboratories
Benn@nso1.uchc.edu
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. |
