Reproductive genetics

Figure 1. Biopsy of a human embryo. The holding pipette on the left abuts the zona pellucida of the embryo. The biopsy pipette on the right is inside the opening in the zona pellucida. One cell is inside the pipette (1). ​​INTRODUCTION The importance of aneuploidy screening in assisted reproduction has gained popularity since the introduction of preimplantation genetic testing (PGT) at the beginning of the 1990s (2). PGT for aneuploidies screening (PGT-A) is recommended for couples experiencing recurrent pregnancy…

This technique, first proposed in 1980 by Evenson and coauthors (23), uses flow cytometry to measure sperm DNA integrity. It tests the vulnerability of DNA to acid-induced denaturation by exposure to acridine orange media (AO) (24). AO binds to both double-stranded and single-stranded DNA, but fluoresces in different colour, being red or green, respectively.

Figure 1. Day 3 embryo biopsy (1) Assisted reproduction technology (ART) can help fertile couples to achieve successful pregnancies. Sometimes, reproductive desires of these couples are affected by the presence of a genetic disease in either partner. In such cases, couples are at a reproductive risk and find themselves in the need of assistance that only ART can provide. Preimplantation genetic diagnosis (PGD) provides an alternative to prenatal diagnosis to detect the specific genetic condition or disease they suffer from,…

Figure 1. Metaphase II oocyte (1) Infertility affects millions of couples all around the world. In spite of the solutions to their problems reproductive technology can achieve, the efficacy is eventually limited by the number and the quality of the oocytes available from the woman. In actuality, such efficiency is determined by the ovarian reserve, the oocyte quality and the maternal age, among the most important factors (2). DIMINISHED OVARIAN RESERVE (DOR) Since ovarian reserve defines the quantity and quality…

  Figure 1. Mitochondria structure (1). Although most of the genetic material of eukaryotic cells are located inside the nucleus, mitochondria are organelles that also possess a certain amount of DNA. Mutations in mitochondrial DNA (mtDNA) or nuclear genes involved in mitochondrial function are a cause of infertility and diseases, not only in individuals but also in their offspring. In these cases, one of the solutions known to be efficient in order to conceive and give birth to a healthy…