Distribution of Abnormal Karyotypes among Positive Maternal Serum Screening Results
Elaine Chen1, Gila Muskin2, Naomi Nakata1, Sucheta Bhatt1, Neil S. Silverman2, Lawrence D. Platt2
1Genzyme Genetics, Los Angeles, CA, United States, 2Center for Fetal Medicine and Women's Ultrasound, Los Angeles, CA, United States
ACMG 2010
Down Syndrome Screening Declined; Ultrasound Soft Markers Detected, Now What?
Angela Shanter1, Joanne Meister1, Kendall M Annable1, Denise Ramsey1, Alan E Donnenfeld1
1Genzyme Genetics, Philadelphia, PA, United States
ACMG 2010
FMR1 Repeat Length in Infertile Women with Primary Ovarian Insufficiency
Catherine B Karimov1, Amy Cronister2, Serene Srouji3, John Petrozza4, Catherine Racowsky3, Elizabeth Ginsburg3, Joaquin Santolaya5, Corrine Welt1
1Reproductive Endocrine Unit, Massachusetts General Hospital,Boston, MA, United States, 2Genzyme Genetics Genetic Services, Genzyme, Philadelphia, PA, United States, 3Center for Reproductive Medicine, Brigham and Women's Hospital, Boston, MA, United States, 4Vincent Reproductive Medicine and In Vitro Fertilization, Massachusetts General Hospital, Boston, MA, United States,5Obstetrics and Gynecology, Brigham and Women's Hospital, Boston, MA, United States
ACMG 2010
Frequency of familial versus de novo chromosome inversions during prenatal diagnosis
Vikram Bhatt1, David Rogers2, Bing Huang2
1High School, Laguna Hills High School, Laguna Hills, CA,United States, 2Genzyme, Orange, CA, United States
ACMG 2010
Recurrence of an apparently de novo 17p13.3 duplication by aCGH ascertained through a previous child autism
Christina M Fels1, Patrice ML Trauffer1,2
1Genzyme Genetics, Genzyme, Philadelphia, PA, United States, 2Maternal Fetal Medicine, Holy Redeemer Hospital, Meadowbrook, PA, United States
ACMG 2010
Spinal muscular atrophy testing in the prenatal genetic counseling setting: a retrospective look at one year's experience.
Ashley Svenson1, Linda Burney1, Naomi Nakata1, Patricia Sculley1
1Genzyme Genetics, Los Angeles, CA, United States
ACMG 2010
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