Laxmi Baxi1, Stephen Brown, Kavita Desai, Harshavardhan Thaker. 1. Department of Obstetrics and Gynecology, College of Physicians and Surgeons of Columbia University and Sloane Hospital for Women of Columbia University Medical Center at NY Presbyterian Hospital, New York, NY 10032, USA. lvb1@columbia.edu
Abstract
OBJECTIVE: A patient whose 5 fetuses, including a set of twins, were affected by cystic hygroma (CH) and hydrops is presented. METHOD: A 39-year-old gravida 12 para 7, 2, 2, 8 was followed through her pregnancies. Both patient and her spouse are of Ashkenazi Jewish descent and are non-consanguineous. The spouse has Gaucher disease and is on replacement therapy. The patient is not a carrier of any known allele of Gaucher disease. In 2 pregnancies, an ultrasonogram done at 12 weeks revealed a septated CH in 3 fetuses. We have excluded Noonan syndrome, Fryns syndrome and Gunther's disease as the responsible causes for the recurrent CH and aneuploidy in at least 3 of these fetuses. RESULTS: The products of conception in 1 pregnancy showed low normal levels of glucocerebrosidase but no known Gaucher mutation. CONCLUSION: We present a patient with recurrent CH in 5 fetuses (4 pregnancies) of which 3 fetuses had a normal karyotype. This appears to be an autosomal recessive disorder. (c) 2009 S. Karger AG, Basel.
OBJECTIVE: A patient whose 5 fetuses, including a set of twins, were affected by cystic hygroma (CH) and hydrops is presented. METHOD: A 39-year-old gravida 12 para 7, 2, 2, 8 was followed through her pregnancies. Both patient and her spouse are of Ashkenazi Jewish descent and are non-consanguineous. The spouse has Gaucher disease and is on replacement therapy. The patient is not a carrier of any known allele of Gaucher disease. In 2 pregnancies, an ultrasonogram done at 12 weeks revealed a septated CH in 3 fetuses. We have excluded Noonan syndrome, Fryns syndrome and Gunther's disease as the responsible causes for the recurrent CH and aneuploidy in at least 3 of these fetuses. RESULTS: The products of conception in 1 pregnancy showed low normal levels of glucocerebrosidase but no known Gaucher mutation. CONCLUSION: We present a patient with recurrent CH in 5 fetuses (4 pregnancies) of which 3 fetuses had a normal karyotype. This appears to be an autosomal recessive disorder. (c) 2009 S. Karger AG, Basel.
Authors: Anna Letko; Alexandria Marie Schauer; Martijn F L Derks; Llorenç Grau-Roma; Cord Drögemüller; Alexander Grahofer Journal: Genes (Basel) Date: 2021-01-31 Impact factor: 4.096