Prenatal testing for Imprinting Disorders: A clinical perspective

Prenatal Diagnosis, vol. 43, pp. 983–992

Abstract

Imprinting Disorders (ImpDis) are a group of congenital conditions caused by aberrant imprinting resulting in disturbed expression of parentally imprinted genes. ImpDis are rarely associated with major malformations, but pre- and/or postnatal growth and nutrition are often affected. In some ImpDis, behavioral, developmental, metabolic and neurological symptoms might present in the perinatal context or later in life, and in single ImpDis, there is a higher risk of tumors in childhood. Prognosis depends in part on the molecular cause of each ImpDis, but due to high clinical variability and (epi)genetic mosaicism, predicting the clinical outcome of a pregnancy solely based on the underlying molecular disturbance is difficult. Therefore, interdisciplinary care and treatment approaches play an important role in the management and decision making of affected pregnancies, especially taking into account fetal imaging in addition to genetic findings. Prenatal findings influence perinatal management, and thereby improve the prognosis of ImpDis associated with severe but sometimes transient clinical complications in the neonatal period. Therefore, prenatal diagnosis can be crucial for appropriate management not only to the pregnancy itself but might also have a life-long effect.

Authors 5

1. Andreas Dufke corresponding

   University of Tübingen

   Affiliation as printed

   Centre for Rare Diseases University of Tübingen Tübingen Germany

   Institute of Medical Genetics and Applied Genomics University of Tübingen Tübingen Germany

2. Thomas Eggermann Aachen Institute for Human Genetics and Genome Medicine Medical Faculty Institute for Human Genetics and Genomic Medicine Medical Faculty

   RWTH Aachen University

   Affiliation as printed

   Institute for Human Genetics and Genome Medicine Medical Faculty RWTH Aachen University Aachen Germany

   Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, Germany

3. Karl Oliver Kagan

   University of Tübingen

   Affiliation as printed

   Department for Women's Health University Hospital of Tübingen Tübingen Germany

4. Markus Hoopmann

   University of Tübingen

   Affiliation as printed

   Department for Women's Health University Hospital of Tübingen Tübingen Germany

5. Miriam Elbracht Aachen Institute for Human Genetics and Genome Medicine Medical Faculty Institute for Human Genetics and Genomic Medicine Medical Faculty

   RWTH Aachen University

   Affiliation as printed

   Institute for Human Genetics and Genome Medicine Medical Faculty RWTH Aachen University Aachen Germany

   Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, Germany