Education

Degree	Institution	Major
B.Sc.	University of St. Andrews	Physics
M.Sc.	University of Birmingham	Radiobiology
Ph.D.	University of Birmingham	Cancer Studies
D.Sc.	University of St. Andrews	Genetics

Post-Graduate Training

Training	Institution	Specialty
Research Studentship	Department of Cancer Studies, University of Birmingham	Research Studentship
Postdoctoral	Department of Human Genetics, University of Pennsylvania School of Medicine	Post-Doctoral Research Associate

Name & Description	Category	Role	Type	Scope	Start Year	End Year
Chair, International Society for Prenatal Diagnosis, Prenatal Screening Special Interest group	Professional/Scientific Organization	Chair	External	International	2013
Editor, "Prenatal Perspectives", newsletter of the International Society For Prenatal Diagnosis	Editorial Board	Editor	External	International	2013	2015
International Society for Prenatal Diagnosis Committee for Aneuplidy Screening	Professional/Scientific Organization	Chair	External	International	2011
Scientific Committee Member, Ninth International Congress, International Prenatal Screening Group	Advisory Committee	Scientific Committee Member	External	International	2010	2011
Down Screening News/Prenatal Screening Perspectives	Editorial Board	Coordinator and Contributor	External	International	2007	2012
Science Workgroup. State of Connecticut Genomics Advisory Panel	Advisory Committee	Co-Chair	External	State	2005
Scientific Advisory Committee, International Down’s Syndrome Screening Group	Advisory Committee	Member	External	International	2003	2003
Program Committee Member, Sixth International Congress, International Down’s Syndrome Screening Group	Advisory Committee	Member	External	International	2002	2003
The Disorders of Chromosome 16 Foundation	Community Service	Advisory Board Member	External	National	1998
Advisory Board, UCONN Storrs, School of Allied Health, Diagnostic Genetic Sciences Program	Advisory Committee	Member	UConn-Storrs	University	1997	1999
New England Regional Genetics Group (NERGG) Prenatal Diagnosis Committee	Advisory Committee	Member	External	Regional	1990	1998
The American College of Medical Genetics	Professional/Scientific Organization	Member	External	National
International Society for Prenatal Diagnosis	Professional/Scientific Organization	Member	External	International
The American Journal of Medical Genetics	Professional/Scientific Journal	Reviewer	External	National
The American Journal of Medical Genetics	Professional/Scientific Journal	Reviewer	External	National
American Journal of Obstetrics and Gynecology	Professional/Scientific Journal	Reviewer	External	National
Obstetrics and Gynecology	Professional/Scientific Journal	Reviewer	External	National
Genetics in Medicine	Professional/Scientific Journal	Reviewer	External	National
Prenatal Diagnosis	Professional/Scientific Journal	Reviewer	External	National
Clinical Genetics	Professional/Scientific Journal	Reviewer	External	National
Journal of the American Medical Association	Professional/Scientific Journal	Reviewer	External	National
Clinical Chemistry	Professional/Scientific Journal	Reviewer	External	National
Clinica Chimica Acta	Professional/Scientific Journal	Reviewer	External	International
Placenta	Professional/Scientific Journal	Reviewer	External	National
Lancet	Professional/Scientific Journal	Reviewer	External	National

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

Abstracts

Conference Papers

Editorials

Letters

Notes

Other

Reviews

Title or Abstract	Type	Sponsor/Event	Date/Year	Location
International Society for Prenatal Diagnosis, Pre-conference Course. introducing cf-DNA screening into routine prenatal care.	Lecture	International Society for Prental Diagnosis	2015	Wahington, DC
International Society for Prenatal Diagnosis Debate. NIPT should routinely include microdeletions/duplications	Other	International Society for Prenatal Diagnosis	2015	Washington, DC
Reproductive Genetic Diagnostics. Expanded Carrier Screening for Monogenic Disorders.	Lecture	Cambridge Healthtech institute	2015	Boston, MA
Japanese Society of Obstetrics and Gynecology. Non-invasive prenatal testing for chromosome abnormalities: patient counseling and test interpretation	Lecture	Japanese Society of Obstetrics and Gynecology	2015	Yokohama, Japan
Prenatal Molecular Diagnostics, Europe Non-invasive detection of microdeletions	Lecture		2014	Lisbon, Portugal
European Association of Perinatal Medicine, XXIV Perinatal Medicine Congress. Non-invasive detection of microdeletions	Lecture		2014	Florence, Italy
XV Corso Resuidenziale di Genetica Medica, Chieti, Italy. Non-invasive Prenatal Diagnosis	Plenary Lecture		2014	Chieti, Italy
International Society for Prenatal Diagnosis Pre-conference Course Expanded Carrier Screening	Lecture		2014	Brisbane, Australia
International Society for Prenatal Diagnosis Conference Debate: "Pre-conception expanded carrier screening should replace all current prenatal screening for specific single gene disorders"	Other		2014	Brisbane, Australia
12th Biennial Conference of the Indian Society for Prenatal Diagnosis and Therapy Cell-free fetal DNA	Plenary Lecture		2014
American Congress of Obstetricians and Gynecologists, 2014 Annual District II Meeting Clinical and counseling issues with NIPT	Lecture		2014	New York, NY
The future of carrier screening and complexemerging ethical challenges	Talk	Int. Soc Prenatal Diagn, Screening SIG	2013	Lisbon, Portugal
Cell free DNA testing in maternal blood	Panel Discussion	12th World Congress n Fetal Med, Fetal Medicine Foundation	2013	Marbella, Spain
Non-invasive aneuploidy testing using cfDNA: current status and future prospects	Lecture	European Cytogenetics Association, 9th Conference	2013	Dublin, Ireland
Non-invasive prenatal testing	Talk	Genetics and Obstetrics Departments, Baystate Medical Center	2012	Baystate Medical Center, Springfield, MA
Non-invasive prenatal diagnosis	Talk	University of CT Department of Allied Health Sciences	2012	Storrs, CT
Prenatal Screening and Diagnosis	Lecture	IX Corso Resuidenziale di Genetica Medica, Chieti, Italy. Non-invasive Pr	2012	Chieti, Italy
Use of Free Fetal Nucleic Acids in Maternal Plasma for Prenatal Diagnosis	Lecture	American Society for Clinical Pathology	2012	Webinar
International Society for Prenatal Diagnosis, Prenatal Screening Special Interest Group. Prediction of adverse OB events due to abnormal placentation	Panel Discussion	International Society for Prenatal Diagnosis	2012	Miami, Floida
International Society for Prenatal Diagnosis, Prenatal Screening Special Interest Group. Introduction to Prenatal Screening: Statistical and Quality Control Issues.	Talk	International Society for Prenatal Diagnosis	2012	Miami, Floida
Non-invasive prenatal testing	Talk	Fetal Medicine Foundation/ International Society for Prenatal Diagnosis	2012	Kos, Greece
Methods in invasive prenatal diagnosis		Fetal Medicine Foundation/ International Society for Prenatal Diagnosis	2012	Kos, Greece
Non-invasive prenatal testing	Talk	Unicorn Perinatal Lecture Series	2012	Regional hospitals, CT
Invasive Prenatal Diagnosis	Lecture	2nd Central-Eastern European Symposium on Free Nucleic Acids	2012	Olomouc, Czech Republic
Overview of NIPT methods for aneuploidy	Lecture	2nd Central-Eastern European Symposium on Free Nucleic Acids	2012	Olomouc, Czech Republic
Limitations to NIPT for aneuploidy	Lecture	2nd Central-Eastern European Symposium on Free Nucleic Acids	2012	Olomouc, Czech Republic
Non-informative results and quality assurance	Lecture	2nd Central-Eastern European Symposium on Free Nucleic Acids	2012	Olomouc, Czech Republic
Implementation problems	Panel Discussion	2nd Central-Eastern European Symposium on Free Nucleic Acids	2012	2nd Central-Eastern European Symposium on Free Nucleic Acids
Non-invasive prenatal diagnosis.	Talk	Eighth European Cytogenetics Conference	2011	Porto, Portugal
Grand Rounds: Prenatal Screening	Talk	Beth Israel Deaconess Medical Center, Boston	2011	Boston, MA
Gender selection in the United States	Talk	Ninth International Congress, International Prenatal Screening Group	2011	Barcelona
XIII Corso Resuidenziale di Genetica Medica, Chieti, Italy. Non-invasive Prenatal Diagnosis	Talk	University of Chieti	2010
International Society for Prenatal Diagnosis. Prenatal Screening Special Interest Group Workshop, Chair.	Panel Discussion	International Society for Prenatal Diagnosis	2010
International Society for Prenatal Diagnosis. Prenatal Screening Special Interest Group Presentation. Standards and Guidelines for Laboratories.	Talk	International Society for Prenatal Diagnosis	2010
International Prenatal Screening Group Meeting. Barcelona, Workshop Chair.	Panel Discussion	International Prenatal Screening Group	2010
International Prenatal Screening Group Meeting. Barcelona, . Laboratory Quality Control and Quality Assurance.	Talk	International Prenatal Screening Group	2010
Second trimester Down syndrome screening: the potential efficacy of sequential maternal serum testing and the “genetic sonogram”	Talk	International Down Syndrome Screening Group, 8th International Congress	2009	Vancouver, Canada
Changes in Down syndrome and trisomy 18 risks in women receiving sequential prenatal screening	Talk	Soc Maternal Fetal Med	2007
The acceptability of sequential first and second trimester screening for fetal aneuploidy	Talk	Soc Maternal Fetal Med	2007
Importance of confirming BCR/ABL fusion in the diagnosis of chronic myeloid leukemia	Talk	Am Soc Hum Genet 54th Annual Meeting	2004
Recurrent breakpoints in balanced autosomal translocations in man	Talk	Am Soc Hum Genet 54th Annual Meeting	2004
Second trimester maternal serum screening of 45,X pregnancies	Talk	Sixth International Down Syndrome Screening Conference	2003	London, England
Concurrent second trimester biochemical and ultrasound screening for Down syndrome	Talk	Sixth International Down Syndrome Screening Conference	2003	London, England
Preliminary estimate for the detection rate of 45,X pregnancies using the second trimester maternal serum triple test	Talk	Am Soc Human Genet	2002
Second trimester screening for Down syndrome preferentially identifies affected pregnancies that are complicated by fetal hydrops	Talk	Am Soc Human Genet	2001
Abnormal maternal serum inhibin-A levels in trisomy 16 mosaic pregnancies	Talk	Am Soc Hum Genet	1999
Economic evaluation of protocols in medical screening: Prenatal Down syndrome detection as an informative model	Talk	Third International Conference: Strategic Issues in Health Care Management	1998
The predictive value of the triple screening test for the phenotype of Down syndrome	Talk	Am Soc Hum Genet	1998
A comparison of the fixed cut-off and patient-specific risk protocols in the maternal serum screening for trisomy 18	Talk	Am Soc Hum Genet	1998
Unconjugated estriol and human chorionic gonadotropin levels in pregnancies affected with neural tube defects	Talk	Am 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)	Talk	Am Soc Hum Genet	1995
A comparison of high resolution chromosome banding and fluorescence in-situ hybridization (FISH) for the diagnosis of Prader-Willi syndrome and Angelman syndrome	Talk	Am College Med Genet Meeting	1994
Increased frequency of monosomy-X cells detectable by fluorescence in-situ hybridization (FISH) in women with premature ovarian failure (POF)	Talk	Am College Med Genet Meeting	1994
Maternal serum screening for Down syndrome (DS) may also preferentially identify some fetuses with supernumerary “marker” chromosomes (SMCs)	Talk	Am Soc Hum Genet	1993
Long-term evaluation of the leukemic clone in CML patients by densitometry of Southern blot autoradiographs	Talk	Am Soc Hum Genet	1991
Cytogenetic abnormalities in human bone marrow fibroblasts	Talk	Am Soc Hum Genet	1990
Densitometric analysis of Southern blot autoradiographs to quantify the proportion of leukemic cells with CML	Talk	Int Soc Hematol 23rd Congress	1990
Fine mapping of breakpoints in CML and its value to predict response to interferon therapy	Talk	Int Soc Hematol 23rd Congress	1990
Multiple restriction enzyme digests are required to rule out leukemia	Talk	Am Soc Hum Genet	1989
Limited heterogeneity of chromosome 22 breakpoints in chronic myeloid leukemia (CML)	Talk	Am Soc Hum Genet	1988
Use of immunoglobulin gene rearrangements to stage disease severity in chronic lymphocytic leukemia	Talk	Forth International Conference On Human Tumor Markers	1987
Rearrangement of the breakpoint cluster region (bcr) of chromosome 22 as a diagnostic marker for chronic myeloid leukemia	Talk	Forth International Conference On Human Tumor Markers	1987
Breakpoint cluster region (bcr) rearrangement in chronic myeloid leukemia (CML) with apparently normal or t(9;22) variant karyotypes	Talk	Am Soc Hum Genet	1987
Chromosome 22 breakpoint location as a predictive factor for early blast crisis in chronic myeloid leukemia (CML)	Talk	Am Soc Hematol	1987
Utility of molecular genetic analysis of bcr rearrangement in the diagnosis of chronic myelogenous leukemia	Talk	Am Soc Hum Genet	1986
Supernumerary marker chromosomes - a rather common problem in prenatal diagnosis	Talk	Am Soc Hum Genet	1983
Cell growth and chromosome abnormalities in amniotic fluid cell cultures grown in Chang-C media and RPMI-1640 media	Talk	March of Dimes Clinical Genetics Conference	1983
Maternal cell contamination of amniotic fluid cultures -results of a nationwide survey	Talk	Am Soc Hum Genet	1982
Reversion of the galactosemia trait in SV-40 transformed human fibroblasts	Talk	Society for Pediatric Research	1978
Specific chromosome aberrations in senescent human embryo fibroblasts	Talk	British Genetical Society	1976