Particular Qualities of Diagnostic Materials and Tests Used in Preimplantation Genetic Diagnosis: Scientific Letter

ÖZTÜRK S., DEMİR N.

TURKIYE KLINIKLERI TIP BILIMLERI DERGISI, cilt.29, sa.1, ss.236-245, 2009 (SCI-Expanded) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 29 Sayı: 1
  • Basım Tarihi: 2009
  • Dergi Adı: TURKIYE KLINIKLERI TIP BILIMLERI DERGISI
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.236-245
  • Anahtar Kelimeler: Preimplantation diagnosis, blastocyst, polymerase chain reaction, in situ hybridization, fluorescence, COMPARATIVE GENOMIC HYBRIDIZATION, CLEAVAGE-STAGE EMBRYOS, 1ST POLAR BODIES, IN-VITRO, CHROMOSOME-ABNORMALITIES, TROPHECTODERM BIOPSY, SINGLE-CELL, BLASTOCYST BIOPSY, BETA-THALASSEMIA, PGD
  • Akdeniz Üniversitesi Adresli: Evet

Özet

Preimplantation genetic diagnosis (PGD) is a technique used to identify genetic defects in diagnostic materials created through in vitro fertilization (IVF) prior to transfer of embryos to the uterus. This enables Couples to significantly improve their chances of having a healthy child. Since the early 1990s, PGD has been expanding in scope and applications. PGD was first accomplished by Alan Handyside in 1990 to diagnose sex-linked genetic disorders. Also, PGD provides an alternative to current postconception diagnostic procedures, ie, amniocentesis, chorionic villus sampling, and chord blood. These procedures are usually followed by pregnancy termination if results are unfavorable. There are two main stages in PGD application. The first main step contains the collection of diagnostic material for diagnosis. This is generally carried out in a clinical IVF laboratory under sterile conditions. Different diagnostic materials such as first polar body from metaphase II (MII) oocyte and second polar body from zygote, blastomere from cleavage-stage embryo and trophoblast cells from blastocyst have been used in PGD applications, The second main stage involves diagnostic tests in this technique. PGD has largely focused on two methods: fluorescent in situ hybridization (FISH) and polymerase chain reaction (PCR) based techniques [comparative genomic hybridization (CGH), different PCR types]. Decision on the diagnostic materials and tests used in PGD is very important to determine genetic status of the embryo correctly. In this review, advantages, disadvantages and particular characteristic qualities of the diagnostic materials and tests were discussed.