Peter Benn, Ph.D.

Professor of Genetics and Developmental Biology
Director, Diagnostic Human Genetics Laboratories
Academic Office Location:
Genetics & Developmental Biology
University of Connecticut Health Center
263 Farmington Avenue
Farmington, CT 06030-6140
Phone: 860-679-3614
Fax: 860-679-3616
Email: benn@nso1.uchc.edu
Website(s): Department of Genetics and Developmental Biology
Genetics & Developmental Biology Graduate Program

Education
DegreeInstitutionMajor
Ph.D.University of BirminghamCancer Studies
M.Sc.University of BirminghamRadiobiology
B.Sc.University of St. AndrewsPhysics
D.Sc.University of St. AndrewsGenetics

Post-Graduate Training
TrainingInstitutionSpecialty
OtherDepartment of Cancer Studies, University of Birmingham Research Studentship
PostdoctoralDepartment of Human Genetics, University of Pennsylvania School of Medicine Post-Doctoral Research Associate
Name & DescriptionCategoryRoleTypeScopeStart YearEnd Year
Chair, International Society for Prenatal Diagnosis, Prenatal Screening Special Interest groupProfessional/Scientific OrganizationChairExternalInternational2013
Editor, "Prenatal Perspectives", newsletter of the International Society For Prenatal DiagnosisEditorial BoardEditorExternalInternational2013
Research Interests Clinical diagnoses of genetic disorders are carried out by the clinical Medical Genetics Laboratories in the Department of Pathology and Laboratory Medicine. Women at high risk for fetal aneuploidy are identified through the laboratories’ prenatal 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. The combination of maternal serum screening and various fetal biometric measurements obtained by ultrasonography can provide highly effective screening for fetal chromosome abnormalities. Recent studies have shown that even better non-invasive testing for fetal chromosome abnormalities can be achieved by sequencing fetal DNA that is present in maternal plasma. . 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 various screening protocols.Collaborative work is carried out on the ethical and social impact of prenatal screening and diagnosis. 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 research interest.

Not accepting students for Lab Rotations at this time

Journal Articles

Book Chapters

  • Prenatal diagnosis of chromosome abnormalities through amniocentesis
    Benn PA (2010) Genetic disorders and the fetus 194-272
  • Prenatal diagnosis of chromosome abnormalities through amniocentesis
    Benn PA, Hsu. LYF (2004) Genetic disorders and the fetus 214-296
  • Chromosome staining and Banding Techniques
    Benn PA, Tantravahi U (2001) Human Cytogenetics: a practical approach 99-128
  • Cost-effectiveness of estimating gestational age by ultrasonography in Down syndrome screening.
    Benn, P A; Rodis, J F; Beazoglou, T (1999) Obstetrics and gynecology 1 (94) 29-33
  • The role of the BCR/ABL oncogene in human leukemia
    Benn PA (1995) Advances in Genome Biology 305-335
  • Expanding multiple marker screening for Down's syndrome to include Edward's syndrome.
    Barkai, G; Goldman, B; Ries, L; Chaki, R; Zer, T; Cuckle, H (1993) Prenatal diagnosis 9 (13) 843-50
  • Chromosome staining and Banding Techniques
    Benn PA, Perle MA (1992) Human Cytogenetics: a practical approach 91-118
  • Cytogenetics
    Benn PA (1992) Clinical Laboratory Medicine 1144-1165
  • Chromosome staining and Banding Techniques
    Benn PA, Perle MA (1978) Human Cytogenetics: a practical approach 57-83

Abstracts

  • Comparison of two protocols for ultrasound markers in Down syndrome screening by the genetic sonogram
    Shamshirsaz AA, Ravangard S, Egan J, , Benn P, Borgida A, Janicki MB, Campbell WA, Zelop C, Turner G, Feldman D, Shamshirsaz AA, Ingardia C Fang YMV Prabulos A-M, Billstrom R, Sadowski A, Timms D, Gurram P, Fuller K, , Braut K (2012) Am J Obstet Gynecol (206) S320
  • Follow-up frequency of testing in patients at very low risk for Trisomy 21 on first trimester screening.
    Shamshirsaz AA, Ravangard S, Shamshirsaz AA, Egan J, Camp WA, Benn P, Borgida A, Janicki MB, Prabulos A-M, Ingardia C, Feldman D, Turner G, Zelop C, Timms D, Gurram P, Fuller K, Fang YMV, Billstrom R, Lenehan K, Sadowski A. (2012) Am J Obstet Gynecol (206) S321
  • Follow-up testing of first trimester patients who screen positive for trisomy 21
    Shamshirsaz AA, Shamshirsaz AA, Egan J, Ravangard S, Campbell WA, Benn P, Borgida A, Janicki MB, Ingardia C, Prabulos A-M, Feldman D, Turner G, Zelop C, Fang YMV, Timms D, Gurram P, Fuller K, Billstrom R, Sadowski A, Lenehan K. (2012) Am J Obstet Gynecol (312) S312
  • Prenatal Serum Analyte Markers and Ultrasound Findings in Fetal Trisomy 9
    Gurram P, Egan J, Campbell W, Benn P. (2012) Annual Convention, American Institute of Ultrasound in Medicine, 2012
  • Do differences in Down syndrome livebirth rates by maternal education persist after controlling for maternal age?
    Horowitz K, Benn P, Shamshirsaz AA, Campbell W, Egan J (2011) Am J Obstet Gynecol (204) S233
  • Do differences in the sex ratio at birth by race and nationality suggest prenatal gender selection in the US?
    Egan J, Campbell W, Chapman A, Shamshirsaz AA Gurram P, Benn P (2011) Am J Obstet Gynecol (204) S245
  • Efficacy of first-trimester nuchal translucency cutoffs to screen for second trimester cardiac abnormalities
    Shamshirsaz AA, Horowitz K, Leftwich H, Benn P, Campbell W, Bolnick J, Egan J (2011) Am J Obstet Gynecol (204) S134
  • First-trimester nuchal translucency cutoffs to detect second trimester cardiac abnormalities in euploid fetuses.
    Shamshirsaz AA, Barnaby D, Ravangard S, Shamshirsaz AA, Campbell W, Borgida A, Billstrom R, Sadowski A, Feldman D, Benn P, Egan J. (2011) 21st World Congress on Ultrasound in Obstetrics and Gynecology.Los Angelis, CA. 2011
  • Gender selection in the United States
    Egan JF, Campbell WA, Chapman A, Shamshirsaz AA, Gurram P, Benn PA. (2011) Ninth International Congress, International Prenatal Screening Group. Barcelona.
  • Ductus venosus pulsatility index measurement reduces the false-positive rate in first-trimester screening.
    Timmerman, E; Oude Rengerink, K; Pajkrt, E; Opmeer, B C; van der Post, J A M; Bilardo, C M (2010) Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 6 (36) 661-7
  • Amniocentesis rates in non-diabetic women in the US from 1990-2005
    Fuller K, Benn P, Smith K, Timms D, Shamshirsaz A, Egan J (2009) Am J Obstet Gynecol (201) S136
  • Are there regional differences in Down syndrome livebirths?
    Egan J, Benn P, Smith K, Timms D, Bolnick J, Cambell W (2009) Am J Obstet Gynecol (201) S220
  • Efficacy of an isolated echogenic focus as a marker for Down syndrome
    Spencer JV, Leftwitch H. Prabulos AM, BennP, Egan J (2009) J Ultrasound Med (28) S139
  • An update on trends in Down syndrome livebirths in the U. S. from 1989 to 2005
    Egan J, Benn P, Turner G, Spencer J, Smith K, Campbell W (2008) Am J Obstet Gynecol (199) S168
  • An update on trends in maternal age and Down syndrome fetuses in the U. S. from 1975 to 2005
    Egan J, Campbell W, Smith K, Timms D, Bolnick J, Benn P (2008) Am J Obstet Gynecol (199) S187
  • Changes in antenatal down syndrome risk assessment in the US from 2001 to 2007
    Egan J, Fang YMV, Kaminsky L, Smith K, Turner G, Benn P (2008) Am J Obstet Gynecol 6 Suppl 1 (197) S170
  • Changes in Down syndrome screening practices in the US from 2001 to 2007
    Egan J, Fang YMV, Kaminsky L, Campbell W, Spencer J, Benn P (2008) Am J Obstet Gynecol 6 Suppl 1 (197) S54
  • Contingency based provision of a genetic sonogram for women receiving second trimester maternal serum Down syndrome screening.
    Benn P, Fang YMV, Smith K, Bolnick J, Borgida A, Egan J (2008) Am J Obstet Gynecol 6 Suppl 1 (197) S170
  • Down syndrome screening strategies utilized by United States Maternal-Fetal Medicine specialists in 2007
    Fang YMV, Benn P, Tribulato K, Fitzpatrick C, Bolnick J,. Egan J (2008) Am J Obstet Gynecol 6 Suppl 1 (197) S170
  • Maternal weight of pregestational diabetic and nondiabetic women
    Smith K, Benn P, Timms D, Polavarapu S, Prebulos A-M, Egan J (2008) Am J Obstet Gynecol (199) S144
  • Placental pathologic findings associated with intrauterine growth restriction, preeclampsia and normal pregnancies
    Fang YMV, Egan J, Benn P, Magidina I, Prabulos AM, Sanders M (2008) Am J Obstet Gynecol (199) S97
  • Prediction of adverse pregnancy outcome using the results of the second trimester quadruple maternal serum screening test
    Fang YMV, Egan J, Sanders M, Magidina I, Bolnick J, Mackeen D, Benn P (2008) Am J Obstet Gynecol (199) S193
  • Trends in maternal weight from 1992 to 2008
    Smith K, Benn P, Prebulos A-M, Bolnick J, Campbell W, Egan J (2008) Am J Obstet Gynecol (199) S105
  • Twin to twin transfusion syndrome (TTTS) in the U. S. from 1990 to 2001Changes in Down syndrome screening practices in the US from 2001 to 2007
    Egan J, Benn P, Kaminsky L, Nieves L, Bolnick J, Borgida A (2008) Am J Obstet Gynecol 6 Suppl 1 (197) S85
  • Changes in Down syndrome and trisomy 18 risks in women receiving sequential prenatal screening
    Benn P, Campbell W, Zelop C, Egan JFX (2006) Am J Obstet Gynecol 6 Suppl 1 (195) S194
  • The acceptability of sequential first and second trimester screening for fetal aneuploidy
    Benn P, Campbell W, Zelop C, Egan JFX (2006) Am J Obstet Gynecol 6 Suppl 1 (195) S194
  • Trends in dizygotic twins by state in the U. S. From 1990 to 2001
    Egan JFX, Benn P, Kaminsky L, Nieves L, Spencer J, Borgida A (2006) Am J Obstet Gynecol 6 Suppl 1 (195) S217
  • Trends in Twin Zygosity in the U. S. by Maternal Race from 1990 to 2001
    Nieves L, Egan JFX, Kaminsky L, Janicki MB, Borgida A, Benn P (2006) Am J Obstet Gynecol 6 Suppl 1 (195) S210
  • Efficacy of absent or shortened nasal bone length for down syndrome detection in second trimester fetuses
    Zelop C, Benn P, Milewski E, Braut K, Borgida A, Egan J (2005) Am J Obstet Gynecol (191) S45
  • JAK2 to the rescue-differential diagnosis of a patient with “Ph-positive” myeloproliferative disorder
    Fang M, Ronski K, Delach J, Benn P (2005) J Mol Diagn (79) H32
  • Second trimester maternal serum screening for down syndrome: Amniocentesis rates and the net number of affected pregnancies identified
    Benn P, Egan J (2005) Am J Obstet Gynecol (191) S46
  • The changing geographic distribution of advanced maternal age in the United States from 1989 to 2002
    Egan J, Benn P, Bolnick A, Gianferrari E, Janicki B, Campbell W (2005) Am J Obstet Gynecol (191) S126
  • Utilization of second trimester maternal serum screening for Down syndrome by advanced maternal age women
    Benn P, Egan J (2005) Am J Obstet Gynecol (191) S46
  • Variation of fetal nasal bone length expressed as a continuous variable according to race and ethnicity in second trimester fetuses
    Zelop C, Benn P, Milewski E, Braut K, Borgida A, Egan J (2005) Am J Obstet Gynecol (191) S174
  • SURUSS in perspective.
    Wald, N J; Rodeck, C; Hackshaw, A K; Rudnicka, A (2004) BJOG : an international journal of obstetrics and gynaecology 6 (111) 521-31
  • Down syndrome live births in the U.S. from 1989 to 2001
    Egan JFX, Benn P, Zelop C, Bolnick A, Gianferrari E, Borgida A (2004) Am J Obstet Gynecol (189) S98
  • Nuchal fold thickness as a marker for congenital cardiac defects
    Zelop C, Kamnisky L, Gianferrari E, Benn P, Bolnick A, Borgida A, Egan JFX (2004) Am J Obstet Gynecol (189) S232
  • What is the real risk for trisomy 18?
    Bobrowski R, Noether J, Richardson D, Benn P (2004) Am J Obstet Gynecol (189) S233
  • Combined ultrasound and biochemical markers for Down syndrome screening: the seven marker test
    Pinette M, Egan JFX, Wax J, Blackstone J, Cartin A, Benn P (2003) Am J Obstet Gynecol (187) S157
  • Fetal gender and second trimester maternal serum screen markers
    Kaminisky L, Egan J, Benn P (2003) Am J Obstet Gynecol (187) S161
  • Nuchal fold as a continuous or ordinal variable in the antenatal detection of Down syndrome
    Egan JFX, Milewski E, Szjada B, Bolnick A, Deroche M, Zelop C, Borgida A, Benn P (2003) Ultrasound Med Biol 5S (29) S22
  • Down's syndrome screening with nuchal translucency at 12(+0)-14(+0) weeks and maternal serum markers at 14(+1)-17(+0) weeks: a prospective study.
    Rozenberg, P; Malagrida, L; Cuckle, H; Durand-Zaleski, I; Nisand, I; Audibert, F; Benattar, C; Tribalat, S; Cartron, M; Lemarié, P; Stoessel, J; Capolagui, P; Jansé-Marec, J; Barbier, D; Allouch, C; Perdu, M; Roberto, A; Lahna, Z; Giudicelli, Y; Ville, Y (2002) Human reproduction (Oxford, England) 4 (17) 1093-8
  • Significance of a prenatally diagnosed del(10)(q23).
    Zaslav, A L; Fox, J E; Jacob, J; Kazi, R; Allan, S; Shklooskaya, T; Sohal, D; Kleyman, S M; Verma, R S (2002) American journal of medical genetics 2 (107) 174-6
  • Antenatal screening for Down syndrome in the U.S. in 2001:A survey of maternal-fetal medicine specialists
    Egan J, Kaminsky L, DeRoche M, Barsoom M, Borgida A, Benn P (2002) Am J Obstet Gynecol (185) S219
  • Cost analysis of Down syndrome screening by maternal age with or without the triple screen
    Turner GW, Borgida AF, Barsoom M, DeRoche M, Benn PA, Egan JFX (2002) Society for Maternal Fetal Medicine, New Orleans
  • Cost analysis of Down syndrome screening in the advanced maternal age population
    Hartnett J, Borgida A, BennPA, Barsoom M, DeRoche M, Egan J (2002) Am J Obstet Gynecol (185) S205
  • Cost analysis of Down syndrome screening with or without the triple screen
    Turner G, Borgida A, Barsoom M, DeRoche M, Benn PA, Egan J (2002) Am J Obstet Gynecol (185) S220
  • Do second trimester ultrasound markers correlate with serum screen analytes?
    Kaminsky L, Egan J, Turner G, Ingardia C, Benn P (2002) Am J Obstet Gynecol (185) S248
  • Preliminary estimate for the detection rate of 45,X pregnancies using the second trimester maternal serum triple test
    Benn PA, Ying J (2002) Am J Hum Genet (71) A561
  • Risk adjustment in Down syndrome screening in the US in 2001: A survey of maternal-fetal medicine specialists
    Egan J, Kaminsky L, DeRoche M, Borgida A, Barsoom M, Benn P (2002) Am J Obstet Gynecol (185) S219
  • Trends in Down syndrome births in the US from 1989 to 1999: An analysis by maternal age
    Egan J, Benn P, Borgida A, Feldman D, Barsoom M, Campbell W (2002) Am J Obstet Gynecol (185) S219
  • Role of ultrasound for Down syndrome screening in advanced maternal age.
    Egan, J F; Malakh, L; Turner, G W; Markenson, G; Wax, J R; Benn, P A (2001) American journal of obstetrics and gynecology 5 (185) 1028-31
  • Combined second trimester biochemical and ultrasound screening for Down syndrome is highly effective
    Kaminsky L, Egan J, Ying J, Benn P (2001) Am J Obstet Gynecol (185) S78
  • Maternal serum ITA utility for prenatal Down syndrome detection: a pilot study using a new automated assay
    Lee JES, ColeLA, Palomaki GE, Mahoney MJ, Benn P, Vendely T, Strom CM, Pandian R (2001) Am J Hum Genet (69) A207
  • New estimates for the efficacy of second trimester serum screening for Down syndrome and trisomy 18; adjustment for cross-identification and double-positive results
    Benn PA, Ying J, Beazoglou T, Egan JFX (2001) Am J Obstet Gynecol (184) S108
  • Second trimester screening for Down syndrome preferentially identifies affected pregnancies that are complicated by fetal hydrops
    Benn PA, Egan JFX, Ingardia CJ (2001) Am J Hum Genet (69) A663
  • The geographic distribution of advanced maternal age in the US from 1989 to 1997
    Egan JFX, Benn PA, Esters DB, Feldman D, Barsoom M, Borgida A (2001) Am J Obstet Gynecol (184) S54
  • Trends in Down syndrome births the U.S. from 1989 to 1998: an analysis by maternal age
    Egan JFX, Benn PA, Borgida A, Feldman D, Barsoom M, Cambell W (2001) Am J Obstet Gynecol (184) S54
  • Abnormal maternal serum inhibin-A levels in trisomy 16 mosaic pregnancies
    Benn PA, Collins R (1999) Am. J. Hum. Genet (65) A172
  • Selecting an optimal statagy for second trimester trisomy 18 screening
    Benn PA, Leo MV, Beazoglou T, Rodis JF (1999) Am J Obstet Gynecol (180) S58
  • A comparison of the fixed cut-off and patient-specific risk protocols in the maternal serum screening for trisomy 18
    Benn PA, Collins R, Horne D (1998) Am J Hum Genet (63) A159
  • Attenuated familial adenomatous polyposis in an adult with interstitial deletion of chromosome 5q
    Pilarski RT, Brothman AR, Benn P, Rosengren SS (1998) Am J Hum Gen (63) A82
  • The predictive value of the triple screening test for the phenotype of Down syndrome
    Shulman Rosengren S, Tanski S, Benn PA (1998) Am J Hum Genet (63) A120
  • Poor pregnancy outcome and the presence of trisomy 16 cells in amniotic fluid
    Devi AS, Campbell W, Ingardia C, Rosengren S, Tezcan K, Weiser J, Benn PA (1997) Am J Hum Genet (61) A151
  • Serum markers for Down's syndrome in relation to number of previous births and maternal age.
    Wald, N J; Watt, H C (1996) Prenatal diagnosis 8 (16) 699-703
  • The significance of rare trisomy mosaicism diagnosed in amniocytes
    Hsu L, Yu M, Neu R, Van Dyke D, Benn P, Bradshaw C, Shaffer L, Higgins R, Khodr G, Morton C, Wang H, Brothman A, Chadwick D, Disteche C, Jenkins L, Kalousek D, Pantzer T, Wyatt P (1996) Am J Hum Genet (59) A202
  • An association between trisomy 16 (and other fetal aneuploidy) in women with grossly elevated second trimester maternal serum human chorionic gonadotropin (MSHCG)
    Benn P, Craffey A, Horne D, Cusick W, Smeltzer J (1995) Am J Hum Genet (57) A275
  • Increased frequency of monosomy-X cells detectable by fluorescence in-situ hybridization (FISH) in women with premature ovarian failure (POF)
    Devi A, Benn P, Metzger D, Rubin K (1994) Am J Med Genet (52) 372
  • Pregnancy outcome in patients with a second trimester triple screen-positive for trisomy eighteen
    Ciarleglio L, Cusick W, Briganti S, Feeney L, Benn P, Rodis J (1994) Am J Obstet Gynecol (170) 354
  • Maternal serum screening for Down syndrome (DS) may also preferentially identify some fetuses with supernumerary “marker” chromosomes (SMCs)
    Benn P, Craffey A, Ciarleglio L, Lamb A, Sanford-Hanna J, Krasikov N (1993) Am J Hum Genet (53) A1382
  • Cytogenetic studies of bone marrow fibroblasts cultured from patients with myelofibrosis and myeloid metaplasia.
    Wang, J C; Lang, H D; Lichter, S; Weinstein, M; Benn, P (1992) British journal of haematology 2 (80) 184-8
  • Mosaic trisomy 16 in the newborn: a recognizable syndrome
    Devi A, Kamath MV, Eisenfeld L, Neu R, Ciarleglio L, Greenstein R, Benn P (1992) Am J Hum Genet (51) A303
  • Oncogenes elk and ets, chromosome changes and synovial sarcoma
    Lu GH, Welch J, Benn P (1992) Am J Hum Genet (51) A278
  • Discordancy between DNA analysis and cytogenetic analysis in fragile-X diagnosis
    Devi A, Greenstein R, Benn P (1991) Dysmorphology and Clin Genet
  • Long-term evaluation of the leukemic clone in CML patients by densitometry of Southern blot autoradiographs
    Grossman A, Silver RT, Szatrowski TP, Gutfriend A, Verma RS, Benn PA (1991) Am J Hum Genet (49) 118A
  • Cytogenetic abnormalities in human bone marrow fibroblasts
    Weinstein M, Wang J, Lang H, Lichter S, Benn P (1990) Am J Hum Genet (47) A23
  • Cytogenetic studies on bone marrow fibroblasts cultured from patients with primary myelofibrosis
    Wang J, Lang H, Lichter S, Weinstein M, and Benn P (1990) Blood (76) 333A
  • Fine mapping of breakpoints in CML and its value to predict response to interferon therapy
    Grossman A, Silver R, Benn P, Szatrowski T, Isola L (1990) Blood (76) 231A
  • Infusional cytosine arabinoside (Ara-C) and recombinant interferon-(rIFN) for the treatment of chronic myeloid leukemia (CML)
    Silver RT, Benn PA, Szatrowski TP, Verma R, Gutfriend A (1990) Proc Am Soc Clin Oncol (9) 209
  • Loss of initial clone and emergence of a novel genotype in cutaneous T-cell lymphoma treated with photochemotherapy
    Berger C, Lee M, Tien J, Polvere R, Heald P, Benn P, Bissalia C, Armus S, Edelson R (1990) J Inv Dermat (95) 506A
  • Location of breakpoints within the major breakpoint cluster region (bcr) in 33 patients with bcr rearrangement positive chronic myeloid leukemia (CML) with complex or absent Philadelphia chromosomes
    Dube’ ID, Dixon J, Beckett T, Benn PA, McKeithan T (1989) Am J Hum Genet (45) A19
  • Limited heterogeneity of chromosome 22 breakpoints in chronic myeloid leukemia (CML)
    Benn P, Grossman A, Soper L, Hall B, Silver R, Coleman M, Arlin Z, Gascon P (1988) Am J Hum Genet (43) A19
  • Restriction enzyme fragment length polymorphisms (RFLP’s) in the breakpoint cluster region of chromosome 22 can be a complication for DNA probe diagnosis of chronic myeloid leukemia (CML)
    Benn P, Grossman A, Soper L, Halka K, Eisenberg A, Gascon P (1988) Blood (72) 175A
  • The distribution of chromosome 22 breakpoints in newly diagnosed cases of chronic myeloid leukemia (CML)
    Grossman A, Camposano E, Silver RT, Coleman M, Arlin A, Gascon P, Benn P (1988) Blood (72) 179A
  • Unmasking the masked bcr/abl gene in chronic myeloid leukemia
    Verma RS, Macera MJ, Benn PA, Groffin J (1988) Blood (72) 185A
  • Breakpoint cluster region (bcr) rearrangement in chronic myeloid leukemia (CML) with apparently normal or t(9;22) variant karyotypes
    Benn PA, Eisenberg A, Soper L, Shapiro LR, Wilmot PL, Silver RT, Arlin Z (1987) Am J Hum Genet (41) A22
  • Chromosome 22 breakpoint location as a predictive factor for early blast crisis in chronic myeloid leukemia (CML)
    Benn PA, Eisenberg A, Soper L, Silver RT, Coleman M, Bernhardt B, Arlin Z (1987) Blood (70) 198A
  • Correlation of clinical status with rearrangement of the heavy chain J segment (JH) in chronic lymphatic leukemia (CLL)
    Bernhardt B, Silver RT, Soper L, Benn PA (1987) Proc Am Soc Clin Oncol (6) 40
  • Interferon (rIFN) alpha-2b has activity in treating chronic myeloid leukemia in rIFN gamma failures
    Silver RT, Coleman M, Benn P, Verma R, Gutfriend A (1987) Proc Am Soc Clin Oncol (6) 587
  • Rearrangement of the breakpoint cluster region (bcr) of chromosome 22 as a diagnostic marker for chronic myeloid leukemia
    Benn PA, Eisenberg A, Soper L, Silver RT, Bernhardt B (1987) J Tumor Marker Oncology (2) 92
  • Use of immunoglobulin gene rearrangements to stage disease severity in chronic lymphocytic leukemia
    Benn P, Soper L, Eisenberg A, Silver RT, Bernhardt B (1987) J Tumor Marker Oncology (2) 77
  • Clonal rearrangement of T-beta gene and dual genotypes in cutaneous T-cell lymphoma
    Berger CL, Benn PA, Chow J, Simone J, Cacciapaglia B, Chu A, Edelson R, Eisenberg A (1986) J Invest Dermat (86) 463
  • Gamma interferon (IFN) has activity in treating chronic myeloid leukemia (CML)
    Silver RT, Reich SD, Coleman M, Benn P, Verma R, Gutfriend A, Witman P (1986) Blood (68) 232A
  • Progression of the neoplastic lymphocyte clone in chronic lymphocytic leukemia (CLL) monitored by immunoglobulin gene probe analysis
    Benn P, Eisenberg A, Cacciapaglia B, Sanda A, Baird M, Bernhardt B, Silver RT (1986) Blood (68) 195A
  • The use of DNA-PRINT to determine paternity
    Baird M, Benn P, Balazs I, Clyne M, Meade E, Glassberg J (1986) Am J Hum Genet (39) A229
  • Three DNA rearrangements in a single patient with Ph1 positive, acute lymphoblastic leukemia
    Goldberg SZ, Eisenberg A, Berger C, Warburton D, Benn P, Stoopler M, Ellison RR (1986) Blood (68) 246A
  • Utility of molecular genetic analysis of bcr rearrangement in the diagnosis of chronic myelogenous leukemia
    Benn P, Eisenberg A, Cacciapaglia B, Baird M, Silver RT, Coleman M, Berger C, Bernhardt B (1986) Am J Hum Genet (39) A25
  • Chromosome polymorphisms of 1, 9, 16 and Y in four major ethnic groups - a large study
    Hsu LYF, Benn PA (1984) Am J Hum Genet (36) 975
  • Non-random chromosome breakpoints in amniotic fluid translocation pseudomosaicism
    Benn PA, Hsu LYF (1984) Am J Hum Genet (36) 865
  • Anencephaly in a 13q- syndrome
    Rudelli R, Byrne J, Warburton D, Benn PA, Blanc WA (1983) Teratology (27) 74A
  • Cell growth and chromosome abnormalities in amniotic fluid cell cultures grown in Chang-C media and RPMI-1640 media
    Benn PA, Hsu LYF (1983) Birth Defects: Original Article Series
  • Chromosome 12 deletion: further evidence for association of a syndrome with deletion of band 13q32
    Warburton D, Anyane-Yeboa K, Merkrebs A, Schwartz R, Byrne J, Schonhaut A, Benn PA, Hsu LYF (1983) Birth Defects: Original Article Series 19 (5) 174-175
  • Supernumerary marker chromosomes - a rather common problem in prenatal diagnosis
    Benn PA, Hsu LYF (1983) Am J Med Genet (35) 125A
  • The Centralized Prenatal Diagnosis Laboratory of New York City - The experience of the first two operational years and 2000 successful cases
    Benn PA, Hsu LYF (1981) Am J Hum Genet (33) 71A
  • The establishment of the Centralized Prenatal Diagnosis Laboratory of New York City: Prospect and Experience
    Hsu LYF, Benn PA (1979) Am J Hum Genet (31) 74A
  • Reversion of the galactosemia trait in SV-40 transformed human fibroblasts
    Benn PA, Jameson HK, Boches FS, Markus HB, Mellman WJ (1978) Ped Res (12) 509
  • Spontaneous reversion in human galactosemic cells
    Benn PA, Boches FS, Markus HB, Mellman WJ (1978) Am J Hum Genet (30) 130A
  • Specific chromosome aberrations in senescent human embryo fibroblasts
    Benn PA, Harnden DG (1976) Heredity (37) 145-146

Conference Papers

Editorials

Letters

  • Response to "On gestational weeks and maths".
    Benn, Peter; Borrell, Antoni; Chiu, Rossa; Cuckle, Howard; Dugoff, Lorraine; Faas, Brigitte; Gross, Susan; Johnson, Joann; Maymon, Ron; Norton, Mary; Odibo, Anthony; Schielen, Peter; Spencer, Kevin; Huang, Tianhua; Wright, Dave; Yaron, Yuval (2013) Prenatal diagnosis 12 (33) 1218-9
  • Prenatal counseling and the detection of copy-number variants.
    Benn, Peter A (2013) Genetics in medicine : official journal of the American College of Medical Genetics 4 (15) 316-7
  • Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing.
    Benn, Peter; Cuckle, Howard; Pergament, Eugene (2012) Obstetrics and gynecology 6 (119) 1270; author reply 1270-1
  • Reply
    Benn P, Cuckle H, Pergament E (2012) Ultrasound Obstet Gynecol 4 (40) 485-6
  • Anomalous Marker Values…and Anomalous Risk Calculation
    Benn P (2011) Prenatal Screening Pespectives (16) 8
  • Crown Rump Length and Gestatoional Age
    Benn P (2011) Prenatal Screening Pespectives (16) 38
  • Free Fetal DNA; Recent Developments
    Benn P (2011) Prenatal Screening Pespectives (16) 16
  • Mendelian Disorders: Univesal Carrier Testing
    Benn P (2011) Prenatal Screening Pespectives (16) 4
  • Position Statement
    Benn P (2011) Prenatal Screening Pespectives (16) 26
  • Prenatal Screening for Down Syndrome: USA and UK
    Benn P (2011) Prenatal Screening Pespectives (16) 5
  • Serum Tests Quality Control
    Benn P (2011) Prenatal Screening Pespectives (16) 30-31
  • US Professional Guidelines
    Benn P (2011) Prenatal Screening Pespectives (16) 9
  • Reply
    Fang Y.M.V., Egan J.F.X., Benn P. (2010) American Journal of Obstetrics and Gynecology 3 (202)
  • Carrier Screening
    Benn P (2009) Prenatal Screening Perspectives (15) 23
  • Down syndrome screening in the United States in 2001 and 2007: A survey of Maternal-Fetal Medicine specialists
    Fang YM, Egan JF, Benn PA (2009) Am J Obstet Gynecol
  • Prenatal Screening Pespectives
    Benn, P (2009) Prenatal Screening Perspectives (15) 10-11
  • Quality NT Measurement
    Benn P (2009) Prenatal Screening Perspectives (15) 35
  • Second Trimester Ultrasound Efficacy
    Benn, P (2009) Prenatal Screening Perspectives (15) 14-15
  • Second trimester prenatal ultrasound and screening for Down syndrome.
    Benn, Peter A; Egan, James F X (2007) Prenatal diagnosis 9 (27) 884
  • ACOG Bulletin-Counter Opinion
    Egan JFX, Benn PA (2007) Down’s Screening News 1 (14) 13-14
  • Comparative Genomic Hybridization
    Benn PA (2007) Down’s Screening News 1 (14) 30
  • Invasive Prenatal Diagnosis
    Benn PA (2007) Down’s Screening News 1 (14) 25
  • Lost and Found; Whole Sets of Chromosomes
    Benn, P (2007) Down’s Screening News 2 (14) 31
  • Nasal bone length; second trimester results
    Benn PA (2007) Down’s Screening News 1 (14) 27
  • Sequential Screening
    Benn, P (2007) Down’s Screening News 2 (14) 21
  • Smith-Lemli-Opitz Syndrome
    Benn, P (2007) Down’s Screening News 2 (14) 9
  • CT ratios: parameter estimates are inconsistent with SURUSS publications?
    Wright, Dave; Bradbury, Ian; Benn, Peter; Nix, Barry; Spencer, Kevin; Cuckle, Howard (2006) Prenatal diagnosis 10 (26) 991-2; author reply 994
  • A matter of opinion or evidence! [2]
    Wright D., Bradbury I., Cuekle H., Gardosi J., Tonks A., Standing S., Benn P. (2006) Prenatal Diagnosis 12 (26) 1184
  • Book Review: Preventive Genetics
    Benn P (Ed) Gogate S (2006) Down’s Screening News 2 (13) 35
  • Rapid Aneuploidy Testing
    Benn P (2006) Down’s Screening News 2 (13) 35
  • Recurrence risks
    Benn P (2005) Down’s Screening News 2 (12) 4-5
  • Which contingent sequential screening protocol?
    Wright D, Bradbury I, Benn P, Cuckle H, Ritchie K (2005) Prenat Diagn (25) 520-521
  • Chromosome imbalances and viability
    Benn PA (2004) Down’s Screening News 2 (11) 38
  • S100B protein and amniotic fluid.
    Tort, Adriano B L; Gonçalves, Carlos A; Souza, Diogo O; Giugliani, Roberto; Portela, Luis V C (2003) Clinica chimica acta; international journal of clinical chemistry 1-2 (335) 165-6; author reply 167
  • Incorporation of inhibin-A in second-trimester screening for Down syndrome.
    Hallahan, Terrence W; Krantz, David A; Macri, James N (2003) Obstetrics and gynecology 2 (102) 413; author reply 413-4
  • HCG and chromosome abnormalities
    Benn PA (2003) Down’s Screening News 1 (10) 22
  • Improved antenatal screening for Down syndrome
    Benn P (2003) Lancet (361) 794-795
  • Models’ vital statistics….. and their extremities
    Benn PA, Cuckle HS (2003) Down’s Screening News 2 (10) 36
  • Correct composite risks
    Benn PA (2002) Down’s Screening News (9) 26
  • Singleton versus duplicate assays in maternal serum screening.
    Benn, P A (2001) Prenatal diagnosis 10 (21) 894-6
  • Evaluation of analytical precision in maternal serum screening for Down syndrome
    Benn PA, Collins R (2001) Ann Clin Biochem (38) 123
  • Second trimester ultrasound to detect fetuses with Down syndrome
    Egan JFX, Rodis J, Benn PA (2001) JAMA (285) 2857
  • USA age trends 1974-99
    Egan JFX, Benn PA (2001) Down’s Screening News 1 (8) 29
  • Survival of Down syndrome in utero.
    Benn, P A; Egan, J F (2000) Prenatal diagnosis 5 (20) 432-3
  • Inhibin-A
    Benn P, Collins R (2000) Down’s Screening News 1 (7) 20
  • Revised guidelines for the diagnosis of mosaicism in amniocytes.
    Hsu, L Y; Benn, P A (1999) Prenatal diagnosis 11 (19) 1081-82
  • Should health screening be private?
    Beazoglou T, Benn P (1999) Down’s Screening News 2 (6) 3
  • Trisomy 16 mosaicism
    Benn PA (1999) Trisomy 16 mosaicism 2 (6) 20-21
  • Down syndrome and open neural tube defect screen-positive pregnancies: premature delivery and premature placental karyotyping.
    Benn, P A (1997) Prenatal diagnosis 3 (17) 282-4
  • Trisomy 16 mosaicism: reply to Kalousek
    Benn PA, Devi A (1994) Am J Med Genet (52) 116
  • A rapid (but wrong) prenatal diagnosis.
    Benn, P; Ciarleglio, L; Lettieri, L; Rodis, J; Greenstein, R (1992) The New England journal of medicine 24 (326) 1638-40
  • Bcr-abl breakpoint and prognosis in chronic myeloid leukemia
    Mills K, Benn P, Birnie G (1992) Blood (79) 2500
  • Relationship between M-bcr breakpoint position in blast crisis and length of chronic phase in CML
    Mills K, Benn P, Birnie G (1992) Blood (79) 3097-3098
  • bcr breakpoint and prognosis of chronic phase chronic myeloid leukemia.
    Benn, P; Birnie, G D; MacKenzie, E; Mills, K I (1990) Blood 12 (76) 2637-9
  • Dual genotype in cutaneous T cell lymphoma
    Berger CL, Eisenberg A, Soper L, Chow J, Simone J, Gapas Y, Cacciapaglia B, Bennett L, Edelson RL, Warburton D, Benn PA (1988) J Investig Dermat (91) 192
  • Fetal blood sampling in the investigation of chromosome mosaicism in amniotic fluid cell culture
    Kaffe S, Benn PA, Hsu LYF (1988) Lancet 8605 (322) 284
  • Chromosome translocation in fibroblast cultures derived from patients with Werner’s syndrome
    Am J Hum Genet (1985) Am J Hum Genet 1 (37) 221-223
  • Maternal cell contamination mooted by amniocyte clones: Reply to Bixenman, et al
    Benn PA, Hsu LYF (1984) Am J Med Genet 4 (17) 851-852
  • Trisomy 20 syndrome in man
    Benn PA, Harnden DG (1976) Lancet (1) 541

Notes

Other

Reviews

Title or AbstractTypeSponsor/EventDate/YearLocation
The future of carrier screening and complexemerging ethical challengesTalkInt. Soc Prenatal Diagn, Screening SIG2013Lisbon, Portugal
Cell free DNA testing in maternal bloodPanel Discussion12th World Congress n Fetal Med, Fetal Medicine Foundation2013Marbella, Spain
Non-invasive aneuploidy testing using cfDNA: current status and future prospectsLectureEuropean Cytogenetics Association, 9th Conference2013Dublin, Ireland
Non-invasive prenatal testingTalkGenetics and Obstetrics Departments, Baystate Medical Center2012Baystate Medical Center, Springfield, MA
Non-invasive prenatal diagnosisTalkUniversity of CT Department of Allied Health Sciences2012Storrs, CT
Prenatal Screening and DiagnosisLectureIX Corso Resuidenziale di Genetica Medica, Chieti, Italy. Non-invasive Pr2012Chieti, Italy
Use of Free Fetal Nucleic Acids in Maternal Plasma for Prenatal Diagnosis LectureAmerican Society for Clinical Pathology2012Webinar
International Society for Prenatal Diagnosis, Prenatal Screening Special Interest Group. Prediction of adverse OB events due to abnormal placentationPanel DiscussionInternational Society for Prenatal Diagnosis2012Miami, Floida
International Society for Prenatal Diagnosis, Prenatal Screening Special Interest Group. Introduction to Prenatal Screening: Statistical and Quality Control Issues.TalkInternational Society for Prenatal Diagnosis2012Miami, Floida
Non-invasive prenatal testingTalkFetal Medicine Foundation/ International Society for Prenatal Diagnosis2012Kos, Greece
Methods in invasive prenatal diagnosisFetal Medicine Foundation/ International Society for Prenatal Diagnosis2012Kos, Greece
Non-invasive prenatal testingTalkUnicorn Perinatal Lecture Series2012Regional hospitals, CT
Invasive Prenatal DiagnosisLecture2nd Central-Eastern European Symposium on Free Nucleic Acids2012Olomouc, Czech Republic
Overview of NIPT methods for aneuploidyLecture2nd Central-Eastern European Symposium on Free Nucleic Acids2012Olomouc, Czech Republic
Limitations to NIPT for aneuploidyLecture2nd Central-Eastern European Symposium on Free Nucleic Acids2012Olomouc, Czech Republic
Non-informative results and quality assuranceLecture2nd Central-Eastern European Symposium on Free Nucleic Acids2012Olomouc, Czech Republic
Implementation problemsPanel Discussion2nd Central-Eastern European Symposium on Free Nucleic Acids20122nd Central-Eastern European Symposium on Free Nucleic Acids
Non-invasive prenatal diagnosis. TalkEighth European Cytogenetics Conference2011Porto, Portugal
Grand Rounds: Prenatal ScreeningTalkBeth Israel Deaconess Medical Center, Boston2011Boston, MA
Gender selection in the United StatesTalkNinth International Congress, International Prenatal Screening Group2011Barcelona
XIII Corso Resuidenziale di Genetica Medica, Chieti, Italy. Non-invasive Prenatal DiagnosisTalkUniversity of Chieti2010
International Society for Prenatal Diagnosis. Prenatal Screening Special Interest Group Workshop, Chair.Panel DiscussionInternational Society for Prenatal Diagnosis2010
International Society for Prenatal Diagnosis. Prenatal Screening Special Interest Group Presentation. Standards and Guidelines for Laboratories.TalkInternational Society for Prenatal Diagnosis2010
International Prenatal Screening Group Meeting. Barcelona, Workshop Chair.Panel DiscussionInternational Prenatal Screening Group2010
International Prenatal Screening Group Meeting. Barcelona, . Laboratory Quality Control and Quality Assurance.TalkInternational Prenatal Screening Group2010
Second trimester Down syndrome screening: the potential efficacy of sequential maternal serum testing and the “genetic sonogram”TalkInternational Down Syndrome Screening Group, 8th International Congress2009Vancouver, Canada
Changes in Down syndrome and trisomy 18 risks in women receiving sequential prenatal screeningTalkSoc Maternal Fetal Med2007
The acceptability of sequential first and second trimester screening for fetal aneuploidyTalkSoc Maternal Fetal Med2007
Importance of confirming BCR/ABL fusion in the diagnosis of chronic myeloid leukemiaTalkAm Soc Hum Genet 54th Annual Meeting2004
Recurrent breakpoints in balanced autosomal translocations in manTalkAm Soc Hum Genet 54th Annual Meeting2004
Second trimester maternal serum screening of 45,X pregnanciesTalkSixth International Down Syndrome Screening Conference2003London, England
Concurrent second trimester biochemical and ultrasound screening for Down syndromeTalkSixth International Down Syndrome Screening Conference2003London, England
Preliminary estimate for the detection rate of 45,X pregnancies using the second trimester maternal serum triple testTalkAm Soc Human Genet 2002
Second trimester screening for Down syndrome preferentially identifies affected pregnancies that are complicated by fetal hydropsTalkAm Soc Human Genet 2001
Abnormal maternal serum inhibin-A levels in trisomy 16 mosaic pregnanciesTalkAm Soc Hum Genet1999
Economic evaluation of protocols in medical screening: Prenatal Down syndrome detection as an informative modelTalkThird International Conference: Strategic Issues in Health Care Management1998
The predictive value of the triple screening test for the phenotype of Down syndromeTalkAm Soc Hum Genet1998
A comparison of the fixed cut-off and patient-specific risk protocols in the maternal serum screening for trisomy 18TalkAm Soc Hum Genet 1998
Unconjugated estriol and human chorionic gonadotropin levels in pregnancies affected with neural tube defectsTalkAm Soc Hum Genet 1997
An association between trisomy 16 (and other fetal aneuploidy) in women with grossly elevated second trimester maternal serum human chorionic gonadotropin (MSHCG)TalkAm Soc Hum Genet1995
A comparison of high resolution chromosome banding and fluorescence in-situ hybridization (FISH) for the diagnosis of Prader-Willi syndrome and Angelman syndromeTalkAm College Med Genet Meeting1994
Increased frequency of monosomy-X cells detectable by fluorescence in-situ hybridization (FISH) in women with premature ovarian failure (POF)TalkAm College Med Genet Meeting1994
Maternal serum screening for Down syndrome (DS) may also preferentially identify some fetuses with supernumerary “marker” chromosomes (SMCs)TalkAm Soc Hum Genet1993
Long-term evaluation of the leukemic clone in CML patients by densitometry of Southern blot autoradiographsTalkAm Soc Hum Genet1991
Cytogenetic abnormalities in human bone marrow fibroblastsTalkAm Soc Hum Genet1990
Densitometric analysis of Southern blot autoradiographs to quantify the proportion of leukemic cells with CMLTalkInt Soc Hematol 23rd Congress1990
Fine mapping of breakpoints in CML and its value to predict response to interferon therapyTalkInt Soc Hematol 23rd Congress1990
Multiple restriction enzyme digests are required to rule out leukemiaTalkAm Soc Hum Genet1989
Limited heterogeneity of chromosome 22 breakpoints in chronic myeloid leukemia (CML)TalkAm Soc Hum Genet1988
Use of immunoglobulin gene rearrangements to stage disease severity in chronic lymphocytic leukemiaTalkForth International Conference On Human Tumor Markers1987
Rearrangement of the breakpoint cluster region (bcr) of chromosome 22 as a diagnostic marker for chronic myeloid leukemiaTalkForth International Conference On Human Tumor Markers1987
Breakpoint cluster region (bcr) rearrangement in chronic myeloid leukemia (CML) with apparently normal or t(9;22) variant karyotypesTalkAm Soc Hum Genet1987
Chromosome 22 breakpoint location as a predictive factor for early blast crisis in chronic myeloid leukemia (CML)TalkAm Soc Hematol1987
Utility of molecular genetic analysis of bcr rearrangement in the diagnosis of chronic myelogenous leukemiaTalkAm Soc Hum Genet1986
Supernumerary marker chromosomes - a rather common problem in prenatal diagnosisTalkAm Soc Hum Genet1983
Cell growth and chromosome abnormalities in amniotic fluid cell cultures grown in Chang-C media and RPMI-1640 mediaTalkMarch of Dimes Clinical Genetics Conference1983
Maternal cell contamination of amniotic fluid cultures -results of a nationwide surveyTalkAm Soc Hum Genet1982
Reversion of the galactosemia trait in SV-40 transformed human fibroblastsTalkSociety for Pediatric Research1978
Specific chromosome aberrations in senescent human embryo fibroblastsTalkBritish Genetical Society1976