Professor, Genetics and Developmental Biology, University of Connecticut SOM
Medical Genetics
Dr. Peter A. Benn, PHD
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Doctor Peter A. Benn, PHD works in the field of Medical Genetics. Peter Benn has written publications. He has 99 publications published with PubMed. The lastest paper is: 'Economic evaluation of prenatal screening for Down syndrome in the U.S.A.'
Publications
- Current controversies in prenatal diagnosis 1: should NIPT routinely include microdeletions/microduplications?(â ).
- Cell-free DNA screening for fetal aneuploidy as a clinical service.
- Expanding the scope of noninvasive prenatal testing: detection of fetal microdeletion syndromes.
- Theoretical performance of non-invasive prenatal testing for chromosome imbalances using counting of cell-free DNA fragments in maternal plasma.
- Obstetricians' and gynecologists' practice and opinions of expanded carrier testing and non-invasive prenatal testing.
- Prenatal technologies and the sex ratio.
- Efficacy of the genetic sonogram in a stepwise sequential protocol for down syndrome screening.
- Non-invasive prenatal testing for aneuploidy: current status and future prospects.
- Nuchal translucency and cardiac abnormalities in euploid singleton pregnancies.
- Clinical utility and cost of non-invasive prenatal testing.
- Impact of diabetes on aneuploidy screening.
- Maternal cfDNA screening for Down syndrome - a cost sensitivity analysis.
- Noninvasive prenatal testing for fetal aneuploidy: clinical assessment and a plea for restraint.
- Position Statement from the Aneuploidy Screening Committee on Behalf of the Board of the International Society for Prenatal Diagnosis.
- Prenatal counseling and the detection of copy-number variants.
- Non-invasive prenatal diagnosis for Down syndrome: the paradigm will shift, but slowly.
- Prenatal Detection of Down Syndrome using Massively Parallel Sequencing (MPS): a rapid response statement from a committee on behalf of the Board of the International ...
- Comparison of combined, stepwise sequential, contingent, and integrated screening in 7292 high-risk pregnant women.
- Aneuploidy screening: a position statement from a committee on behalf of the Board of the International Society for Prenatal Diagnosis, January 2011.
- Distortions of sex ratios at birth in the United States; evidence for prenatal gender selection.
- Demographic differences in Down syndrome livebirths in the US from 1989 to 2006.
- Treatment of synchronous mantle cell lymphoma and small lymphocytic lymphoma with bendamustine and rituximab.
- The role of second-trimester serum screening in the post-first-trimester screening era.
- Ethical challenges in providing noninvasive prenatal diagnosis.
- Down syndrome screening in the United States in 2001 and 2007: a survey of maternal-fetal medicine specialists.
- Practical and ethical considerations of noninvasive prenatal diagnosis.
- Use of the genetic sonogram in the United States in 2001 and 2007.
- Expected performance of second trimester maternal serum testing followed by a ''genetic sonogram'' in screening of fetal Down syndrome.
- Human lymphocyte culture and chromosome analysis.
- Stepwise sequential screening for fetal aneuploidy.
- Second trimester prenatal ultrasound and screening for Down syndrome.
- On the genesis and prognosis of variant translocations in chronic myeloid leukemia.
- Absent or shortened nasal bone length and the detection of Down Syndrome in second-trimester fetuses.
- Reproducibility of risk figures in 2nd-trimester maternal serum screening for down syndrome: comparison of 2 laboratories.
- CT ratios: parameter estimates are inconsistent with SURUSS publications?
- Three-stage contingent screening for Down syndrome.
- Sequential Down syndrome screening: the importance of first and second trimester test correlations when calculating risk.
- Variation of fetal nasal bone length in second-trimester fetuses according to race and ethnicity.
- Early growth response gene 1 (EGR1) is deleted in estrogen receptor-negative human breast carcinoma.
- Down syndrome screening in the first and/or second trimester: model predicted performance using meta-analysis parameters.
- Practical strategies in contingent sequential screening for Down syndrome.
- Which contingent sequential screening protocol?
- Trends in the use of second trimester maternal serum screening from 1991 to 2003.
- Contingent screening for Down syndrome is an efficient alternative to non-disclosure sequential screening.
- Down syndrome births in the United States from 1989 to 2001.
- Changes in the utilization of prenatal diagnosis.
- Correlation of second-trimester sonographic and biochemical markers.
- Preliminary estimate for the second-trimester maternal serum screening detection rate of the 45,X karyotype using alpha-fetoprotein, unconjugated estriol and human cho...
- Combined sonographic and biochemical markers for Down syndrome screening.
- S100beta protein and amniotic fluid.
- Improved antenatal screening for Down''s syndrome.
- Incorporation of inhibin-A in second-trimester screening for Down syndrome.
- Cost analysis of Down syndrome screening in advanced maternal age.
- Combined second-trimester biochemical and ultrasound screening for Down syndrome.
- Prenatal genetic diagnosis of Down''s syndrome.
- Antenatal Down syndrome screening in the United States in 2001: a survey of maternal-fetal medicine specialists.
- Advances in prenatal screening for Down syndrome: II first trimester testing, integrated testing, and future directions.
- Advances in prenatal screening for Down syndrome: I. general principles and second trimester testing.
- Extreme second-trimester serum analyte values in down syndrome pregnancies with hydrops fetalis.
- Role of ultrasound for Down syndrome screening in advanced maternal age.
- Singleton versus duplicate assays in maternal serum screening.
- Second trimester maternal serum analytes in triploid pregnancies: correlation with phenotype and sex chromosome complement.
- Ultrasound markers of fetal Down syndrome.
- Evaluation of effect of analytical imprecision in maternal serum screening for Down''s syndrome.
- Estimates for the sensitivity and false-positive rates for second trimester serum screening for Down syndrome and trisomy 18 with adjustment for cross-identification a...
- Efficacy of screening for fetal Down syndrome in the United States from 1974 to 1997.
- Survival of Down syndrome in utero.
- Unexplained elevated midtrimester maternal serum levels of alpha fetoprotein, human chorionic gonadotropin, or low unconjugated estriol: recurrence risk and associatio...
- Elevated maternal serum alpha-fetoprotein with low unconjugated estriol and the risk for lethal perinatal outcome.
- Prenatally diagnosed sacrococcygeal teratoma: a unique expression of trisomy 1q.
- Common trisomy mosaicism diagnosed in amniocytes involving chromosomes 13, 18, 20 and 21: karyotype-phenotype correlations.
- Revised guidelines for the diagnosis of mosaicism in amniocytes.
- Attenuated familial adenomatous polyposis in a man with an interstitial deletion of chromosome arm 5q.
- Predictive value of the triple screening test for the phenotype of Down syndrome.
- Cost-effectiveness of estimating gestational age by ultrasonography in Down syndrome screening.
- Maternal serum screening for fetal trisomy 18: a comparison of fixed cutoff and patient-specific risk protocols.
- X-chromosome abnormalities in women with premature ovarian failure.
- Economic evaluation of prenatal screening for Down syndrome in the U.S.A.
- Trisomy 16 and trisomy 16 Mosaicism: a review.
- 45,X/46,XX mosaicism in patients with idiopathic premature ovarian failure.
- Preliminary evidence for associations between second-trimester human chorionic gonadotropin and unconjugated oestriol levels with pregnancy outcome in Down syndrome pr...
- Aging chromosome telomeres: parallel studies with terminal repeat and telomere associated DNA probes.
- Down syndrome and neural tube defect screening: the value of using gestational age by ultrasonography.
- Rare trisomy mosaicism diagnosed in amniocytes, involving an autosome other than chromosomes 13, 18, 20, and 21: karyotype/phenotype correlations.
- Down syndrome and open neural tube defect screen-positive pregnancies: premature delivery and premature placental karyotyping.
- Comparison of phenotype between patients with Prader-Willi syndrome due to deletion 15q and uniparental disomy 15.
- Medians for second-trimester maternal serum alpha-fetoprotein, human chorionic gonadotropin, and unconjugated estriol; differences between races or ethnic groups.
- Trisomy 16 mosaicism in amniotic fluid cell cultures.
- Maternal serum screening for birth defects: results of a Connecticut regional program.
- Elevated second-trimester maternal serum hCG alone or in combination with elevated alpha-fetoprotein.
- Trisomy 16 fetus surviving into the second trimester.
- Developing a role for genetics within a cancer program.
- Prenatal diagnosis of diverse chromosome abnormalities in a population of patients identified by triple-marker testing as screen positive for Down syndrome.
- Comparison of high resolution chromosome banding and fluorescence in situ hybridization (FISH) for the laboratory evaluation of Prader-Willi syndrome and Angelman synd...
- Variable clinical expression of mosaic trisomy 16 in the newborn infant.
- Review of the cytogenetic changes in acute megakaryoblastic leukemia: one disease or several?
- Altered epidermal growth factor signal transduction in activated Ha-ras-transformed human keratinocytes.
- Proposed guidelines for diagnosis of chromosome mosaicism in amniocytes based on data derived from chromosome mosaicism and pseudomosaicism studies.
Doctors Specialties
- Clinical Cytogenetics
- Medical Genetics
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