Bradinova I Author

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Challenging Reproductive Genetic Counseling in Families at High Risk for Rare Genetic Syndromes – A Case Report with Possible Denys-Drash Syndrome

Author(s):

Hachmeriyan M, Andonova S, Levkova M, Stoyanova M, Kalchev K, Vasilev P, Miteva V, Tsvetkova M, Bradinova I and Angelova L

Calculating the recurrence risk is an integral part of everyday practice of the genetic counselor, but certain difficulties occur when explaining it to the parents of a child with a rare dysmorphic syndrome.

We present a case of a family with first newborn with multiple anomalies and exitus letalis, registered on the second day. At birth, the baby presented with limb malformations. Additionally, a spontaneous pneumothorax, neonatal cerebral ischemia, and intraamniotic infection were diagnosed. A post-mortem examination revealed additional multiple internal malformations such as patent foramen ovale, bicornuate uterus, accessory spleen, bilateral adrenal hyperplasia, unilateral Wilm’s tumor of the left kidney, diffuse glomerular and interstitial fibrosis, and prote... view more»

DOI: 10.4172/2327-5790.1000172

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