Preimplantation genetic diagnosis (PGD) – prevention of the birth of children affected with endocrine diseases
| العنوان: | Preimplantation genetic diagnosis (PGD) – prevention of the birth of children affected with endocrine diseases |
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| المؤلفون: | Gheona Altarescu, Ephrat Levy-Lahad, Irit Varshaver, Baruch Brooks, Ehud J. Margalioth, Talia Eldar-Geva, Paul Renbaum, Rachel Beeri, Orit Barenholz |
| المصدر: | Journal of Pediatric Endocrinology and Metabolism. 24 |
| بيانات النشر: | Walter de Gruyter GmbH, 2011. |
| سنة النشر: | 2011 |
| مصطلحات موضوعية: | Adult, Genetic Markers, Male, Pediatrics, medicine.medical_specialty, Hypoparathyroidism, Endocrinology, Diabetes and Metabolism, media_common.quotation_subject, Clinical pregnancy, Multiple Endocrine Neoplasia Type 2a, Disease, Endocrine System Diseases, Osteochondrodysplasias, medicine.disease_cause, Preimplantation genetic diagnosis, Endocrinology, Pregnancy, Seizures, Intellectual Disability, medicine, Humans, Endocrine system, Abnormalities, Multiple, Congenital adrenal hyperplasia, Girl, Israel, Multiple endocrine neoplasia, Hyperinsulinemic hypoglycemia, Growth Disorders, Preimplantation Diagnosis, media_common, Family Health, Gynecology, Bone Diseases, Developmental, Adrenal Hyperplasia, Congenital, business.industry, Pregnancy Outcome, Pancreatic Diseases, Embryo Transfer, medicine.disease, Nesidioblastosis, Pediatrics, Perinatology and Child Health, Congenital Hyperinsulinism, Female, business |
| الوصف: | OBJECTIVE To develop a reliable and accurate preimplantation genetic diagnosis (PGD) method in six families with endocrine diseases: persistent hyperinsulinemic hypoglycemia of infancy (PHHI), congenital adrenal hyperplasia (CAH) salt-wasting form, Sanjat-Sakati syndrome and multiple endocrine neoplasia 2A (MEN 2A). METHODS For each disease a battery of at least four informative markers surrounding the tested gene were identified and for each family a protocol of multiplex fluorescent markers was developed and performed on single cells. RESULTS PGD for PHHI was performed in three families. In family 1 two healthy children were born from different cycles, in family 2 three healthy children were born from two cycles, and in family 3 a healthy boy was born. For CAH in one family a healthy girl was born. One PGD cycle for Sanjat-Sakati resulted in a clinical pregnancy that was terminated due to high nuccal translucency (46X0). For one family with MEN 2A disease, the eighth PGD cycle resulted in birth of healthy twins. In all children genetic confirmation of the healthy status was performed. CONCLUSIONS PGD is an effective method for preventing birth of affected children with endocrine disorders. Increasing the awareness of clinicians to the availability of these methods is most important. |
| تدمد: | 2191-0251 0334-018X |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f7243647231ddf5cf92af2b2521da68 https://doi.org/10.1515/jpem.2011.262 |
| رقم الأكسشن: | edsair.doi.dedup.....3f7243647231ddf5cf92af2b2521da68 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 21910251 0334018X |
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