Abstract | OBJECTIVE: 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.
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Authors | Gheona Altarescu, Orit Barenholz, Paul Renbaum, Rachel Beeri, Ephrat Levy-Lahad, Ehud J Margalioth, Baruch Brooks, Irit Varshaver, Talia Eldar-Geva |
Journal | Journal of pediatric endocrinology & metabolism : JPEM
(J Pediatr Endocrinol Metab)
Vol. 24
Issue 7-8
Pg. 543-8
( 2011)
ISSN: 0334-018X [Print] Germany |
PMID | 21932595
(Publication Type: Journal Article)
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Chemical References |
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Topics |
- Abnormalities, Multiple
(genetics, prevention & control)
- Adrenal Hyperplasia, Congenital
(genetics, prevention & control)
- Adult
- Bone Diseases, Developmental
(congenital, genetics, prevention & control)
- Congenital Hyperinsulinism
- Embryo Transfer
- Endocrine System Diseases
(congenital, genetics, prevention & control)
- Family Health
- Female
- Genetic Markers
- Growth Disorders
(congenital, genetics, prevention & control)
- Humans
- Hypoparathyroidism
(congenital, genetics, prevention & control)
- Intellectual Disability
(genetics, prevention & control)
- Israel
- Male
- Multiple Endocrine Neoplasia Type 2a
(congenital, genetics, prevention & control)
- Nesidioblastosis
(congenital, genetics, prevention & control)
- Osteochondrodysplasias
(congenital, genetics, prevention & control)
- Pancreatic Diseases
(congenital, genetics, prevention & control)
- Pregnancy
- Pregnancy Outcome
- Preimplantation Diagnosis
(methods)
- Seizures
(congenital, genetics, prevention & control)
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