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Pregnancy after preimplantation genetic diagnosis for Sanjad–Sakati syndrome
Author(s) -
Hellani Ali,
Aqueel Aida,
Jaroudi Kamal,
Ozand Pinar,
Coskun Serdar
Publication year - 2004
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.841
Subject(s) - loss of heterozygosity , embryo , preimplantation genetic diagnosis , biology , pregnancy , andrology , fetus , sss* , amniocentesis , heterozygote advantage , genetics , prenatal diagnosis , genotype , medicine , gene , allele
Sanjad–Sakati syndrome (SSS) is an autosomal recessive disorder characterized by congenital hypoparathyroidism, growth and mental retardation. In Saudi Arabia, the disease is caused by a deletion of 12 bp (155‐166nt) in the tubulin‐specific chaperone E gene. In a family with two affected siblings with SSS, preimplantation genetic diagnosis (PGD) was performed. Fluorescent PCR (F‐PCR) was utilized to check the heterozygosity and the homozygosity status of the parents and the affected children, respectively. F‐PCR was then optimized for single‐cell analysis by using peripheral blood lymphocytes. The patient underwent a cycle with intra‐cytoplasmic sperm injection. A total of 11 embryos were obtained and biopsied. There were five heterozygous, three homozygous affected and three normal embryos. One heterozygous and one normal embryo were transferred because of their very good quality (morula). A singleton pregnancy was obtained, and amniosynthesis confirmed the presence of the heterozygous fetus. These results show for the first time, the feasibility of PGD for SSS. Copyright © 2004 John Wiley & Sons, Ltd.