Director, Northwestern Reproductive Genetics
Medical Genetics
Dr. Eugene Pergament, MD
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Eugene Pergament works in the field of Medical Genetics. He studied medicine at University of Chicago Pritzker School of Medicine. University of Chicago Pritzker School of Medicine is ranked 10 in research and 19 in primary care medicine He received awards:"Super Doctor" and "Whos Who in Medicine and Healthcare". Doctor Eugene Pergament, MD is a published doctor as well. He has 101 publications published. The latest was: The expression of genes in human preimplantation embryos.
Publications
- Cell-free DNA screening for fetal aneuploidy as a clinical service.
- Single-Nucleotide Polymorphism-Based Noninvasive Prenatal Screening in a High-Risk and Low-Risk Cohort.
- Paternity Balancing.
- Response to "Half of first trimester screen positive pregnancies with an abnormal karyotype had a normal nuchal translucency measurement".
- Detection of genetic abnormalities using CVS and fish prior to fetal reduction in sonographically normal appearing fetuses.
- Nearly a third of abnormalities found after first-trimester screening are different than expected:10-year experience from a single center.
- Reproductive decisions after fetal genetic counselling.
- Genetic assessment following increased nuchal translucency and normal karyotype.
- First-trimester genetic counseling: perspectives and considerations.
- By 2020...
- Impact of quality of nuchal translucency measurements on detection rates of trisomies 13 and 18.
- Preimplantation genetic screening to improve in vitro fertilization pregnancy rates: a prospective randomized controlled trial.
- Controversies and challenges of array comparative genomic hybridization in prenatal genetic diagnosis.
- Elevated first-trimester nuchal translucency increases the risk of congenital heart defects.
- Are fetal cells in maternal plasma really there? We think they are.
- First-trimester screening for trisomies 21 and 18.
- Applying a test system for discriminating fetal from maternal cells.
- Late first-trimester placental disruption and subsequent gestational hypertension/preeclampsia.
- Association of extreme first-trimester free human chorionic gonadotropin-beta, pregnancy-associated plasma protein A, and nuchal translucency with intrauterine growth ...
- Sequential pathways of testing after first-trimester screening for trisomy 21.
- Pregnancy-associated plasma protein A, free beta-hCG, nuchal translucency, and risk of pregnancy loss.
- Genetics of gametes and embryos.
- Sex ratio: a biological perspective of ''Sex and the City''.
- Improved methodology for evaluating nuchal thickness in the second trimester.
- To clone or not to clone: who will answer the question?
- Assessment of fetal status in multiple gestation pregnancies using interphase FISH.
- New molecular techniques for chromosome analysis.
- Recurrent triploidy of maternal origin.
- The application of fluorescence in-situ hybridization to prenatal diagnosis.
- The clinical application of interphase FISH in prenatal diagnosis.
- The role of the preimplantation geneticist in human cloning.
- At the crossroads: the intersection of the Internet and clinical oncology.
- The expression of genes in human preimplantation embryos.
- Recent advances in molecular and molecular cytogenetic techniques have enabled the diagnosis of some inherited diseases from a single cell.
- Hybridization of chromosome 18 alpha-satellite DNA probe to chromosome 22.
- Factors associated with maternal cell contamination in amniocentesis samples as evaluated by fluorescent in situ hybridization.
- Insulin receptor substrate-1 is expressed at high levels in all cells of the peri-implantation mouse embryo.
- Germline gene therapy: its time is near.
- Urorectal septal defects in a female and her offspring.
- A broader perspective of sexual differentiation.
- Is single umbilical artery a genetically controlled anomaly?
- Isolated fetal pyelectasis: assessment of risk for postnatal uropathy and Down syndrome.
- Isolated hypoplastic left heart syndrome in three siblings.
- Current practices of commercial cryobanks in screening prospective donors for genetic disease and reproductive risk.
- Prenatal gene therapy: prospects and issues.
- Medically-assisted procreation: a maturing technology or a premature fear? Response to Testart and Sèle.
- Expression of transcription regulating genes in human preimplantation embryos.
- Bilateral pleural effusion at 8.5 weeks'' gestation with Down syndrome and Turner syndrome.
- Characterization of marker chromosomes by microdissection and fluorescence in situ hybridization.
- Isolated choroid plexus cyst(s): an indication for amniocentesis.
- Sexual differentiation and preimplantation cell growth.
- Preimplantation genetics: a case for prospective action.
- Expression of SRY transcripts in preimplantation human embryos.
- Adverse pregnancy outcome after a false-positive screen for Down syndrome using multiple markers.
- Isolated hyperechoic fetal bowel: significance and implications for management.
- Mutagenic potential of cis-dichlorodiammine platinum II in rodents.
- Dose- and time-response relationships of triethylenemelamine-induced chromosomal aberrations in rat bone marrow cells.
- The hypereosinophilic syndrome and lymphoblastic leukemia with extra C-group chromosome and q14+ marker.
- Chorionic villi sampling: a new technique for detection of genetic abnormalities in the first trimester.
- Warburg syndrome.
- "Map" of proteins resolved from human chorionic villi by two-dimensional electrophoresis.
- Double trisomy in the spontaneous abortion population.
- Chromosome mapping of the Duffy blood group locus.
- Chromosome studies in repeated spontaneous abortions and stillbirths.
- LSD in pregnancy: chromosomal effects.
- Childhood psychosis combined with XYY abnormalities.
- A ring chromosome No. 16 in an infant with primary hypoparathyroidism.
- Possible non random selection of D group chromosomes involved in centric-fusion translocations.
- Epidemicity of chromosome aberrations. An assessment of epidemiological investigations on chromosome aberrations.
- Inheritance of Down''s syndrome: fact and theory.
- YY syndrome in an American Negro.
- Is lysergide a teratogen?
- Testicular feminisation and inguinal hernia.
- Down''s syndrome and infectious hepatitis.
- Association of red cell spherocytosis with deletion of the short arm of chromosome 8.
- Clastogen-induced chromosomal breakage as a marker for first trimester prenatal diagnosis of Fanconi anemia.
- Variability in clinical expression of Menkes syndrome.
- Maternal age-specific rates of 47,+21 and other cytogenetic abnormalities diagnosed in the first trimester of pregnancy in chorionic villus biopsy specimens: compariso...
- Analysis of fetal intestinal enzymes in amniotic fluid for the prenatal diagnosis of cystic fibrosis.
- The safety and efficacy of chorionic villus sampling for early prenatal diagnosis of cytogenetic abnormalities.
- Cytogenetic results of chorionic villus sampling: high success rate and diagnostic accuracy in the United States collaborative study.
- The preimplantation genetic diagnosis of genetic diseases.
- Ultrasonographic detection of the second-trimester fetus with trisomy 18 and trisomy 21.
- Cytogenetic discrepancies in CVS: genetic counseling issues and dilemmas.
- Reproductive genetics in the 21st century: fact and fantasy.
- Preimplantation diagnosis: a patient perspective.
- A randomized comparison of transcervical and transabdominal chorionic-villus sampling. The U.S. National Institute of Child Health and Human Development Chorionic-Vill...
- The risk and efficacy of chorionic villus sampling in multiple gestations.
- Risk factors associated with transcervical CVS losses.
- First-trimester biochemical and molecular diagnoses using chorionic villi: high accuracy in the U.S. collaborative study.
- Cytogenetic results from the U.S. Collaborative Study on CVS.
- Cell-type-specific adhesion mechanisms mediated by fibronectin adsorbed to chemically derivatized substrata.
- Hypomelanosis of Ito (incontinentia pigmenti achromians): a neurocutaneous syndrome.
- Alpha-fetoprotein and the prenatal diagnosis of neural tube defects.
- Late first-trimester invasive prenatal diagnosis: results of an international randomized trial.
- Cloning position paper of the IIT Institute for Science, Law and Technology Working Group on Reproductive Technologies.
- Preference assessment of prenatal diagnosis for Down syndrome: is 35 years a rational cutoff?
- Non-invasive prenatal diagnosis for Down syndrome: the paradigm will shift, but slowly.
- Discordance among blastomeres renders preimplantation genetic diagnosis for aneuploidy ineffective.
- [Late first-trimester invasive prenatal diagnosis--secondary publication. An international randomized trial].
Schools
U Of Chgo Div Of Bio Sci Pritzker Sch Of Med
University Chicago Pritzker Wyler39s Chldn Hospital
Doctors Specialties
- Clinical Cytogenetics
- Clinical Genetics
- Medical Genetics
Accepted Insurances
Awards
- Super Doctor
- Whos Who in Medicine and Healthcare
Education
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University of Chicago -
University of Chicago Pritzker School of Medicine
Hospital
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Northwestern Memorial Hospital
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