Detection of a case of Angelman syndrome caused by an imprinting error in 949 pregnancies analyzed for AS following IVF

  • John P. Johnson
  • Jonathon Schoof
  • Linda Beischel
  • Corbin Schwancke
  • James Goldberg
  • Lauri Black
  • Lori Ross
  • Suchina Bhatt


In vitro fertilization (IVF) is now responsible for achieving 1–2% of US pregnancies and subsequent births ( A number of factors have led to the steady increase in IVF, including increasing rates of infertility and delayed onset of reproduction, especially for women [1].

In the early 2000s, reports of children born with imprinting disorders following IVF appeared in the literature. At first, these included Angelman (AS) and Beckwith-Wiedemann syndromes (BWS, [2, 3, 4, 5, 6, 7]), but later Russell-Silver syndrome [8] as well. These reports were first anecdotal, followed by larger retrospective registry studies [9, 10, 11, 12, 13, 14].

From the above, there clearly are increased risks for imprinting syndromes following IVF/ICSI. The estimates of increased risk vary significantly but range from 0-fold to about 13-fold. However, molecular details in the above studies are mostly lacking. In addition, there are no results from prenatal series and fewer studies...


Imprinting disorders IVF Angelman syndrome prenatal diagnosis 



Submitting labs include the following: Aurora Women’s Pavilion Perinatal Center, Baystate Medical Center Genetics Lab, Benefis Health Care East, Brigham & Women’s Hospital, Carnegie Hill Imaging for Women, Carolinas Medical Center Parke Lab, Cedars-Sinai Medical Center, Center for Maternal and Fetal Medicine, Colorado Genetics Laboratory, Columbia University Medical Center, CombiMatrix Diagnostics, Community Medical Center, CytogenX, Duke University Medical Center, Fetal Diagnostic Institute, GeneCare, Genetics & IVF Institute, Integrated Genetics-Multiple sites, Johns Hopkins/Prenatal Diagnosis Kaiser Permanente Los Angeles, Kaiser Permanente Oakland, Kaiser Permanente of CO, Lab Corp of America, Lehigh Valley Health Network, Maimonides Medical Center, Marshfield Clinic, Mass. General Hospital, Michigan State Cytogenetics Lab, Mount Sinai School of Medicine, New York-Presbyterian Hospital, Newton-Wellesley Hospital, NY University Medical Center, Obstetrix Group of Colorado, Oregon Health & Science University, Palo Verde Laboratory, Permanente Group Genetics, Prenatal Diagnosis, Prenatal Diagnosis Pennsylvania Hospital, Prenatal Genetic Counseling, Presbyterian St. Lukes, Quest Diagnostics Nichols Inst., Reproductive Genetics Institute, Rocky Mountain Perinatal Associates, Southern CA Permanente Medical, St. Joseph’s Medical Center, Stanford Hospital and Clinics, Stony Brook Hospital, Tacoma General Hospital Lab, Tricore Reference Laboratories, UC Davis Medical Center, UCLA Medical Center Clinical Labs CHS, UCSF, University of Iowa Hospitals and Clinics, University of Utah, Wilford Hall Medical Center, and Yale School of Medicine. We appreciate referrals from the above and know the list is not complete.

Compliance with ethical standards

Conflict of interest

The authors declare that they have no conflict of interest.


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Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2018

Authors and Affiliations

  • John P. Johnson
    • 1
  • Jonathon Schoof
    • 1
  • Linda Beischel
    • 1
    • 2
  • Corbin Schwancke
    • 1
  • James Goldberg
    • 3
  • Lauri Black
    • 4
  • Lori Ross
    • 5
  • Suchina Bhatt
    • 6
  1. 1.Medical GeneticsShodair Children’s HospitalHelenaUSA
  2. 2.Department of Public Health and Human Services, State of MontanaHelenaUSA
  3. 3.CounsylSouth San FranciscoUSA
  4. 4.Pacific Reproductive Genetic CounselingPacificaUSA
  5. 5.Neogenomics LaboratoriesIrvineUSA
  6. 6.IlluminaRedwood CityUSA

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