IVF

WHAT IS PRE-IMPLANTATION GENETIC TESTING FOR IVF?

Many couples incapable of conceiving a baby for whatever reason resort to in vitro fertilization (IVF). In this case, sperm and eggs are fertilized in a laboratory petri dish to create embryos. The embryos thus produced start as a single fertilized egg and continue to divide and grow. After the embryos reach a certain stage, one or more embryos are then implanted into the uterus of a woman, where it starts growing, ultimately to be delivered as a baby. The success rate of implantation is not very high, because the embryo is grown under artificial conditions and has also been subjected to all the nutrients required for growth. If the IVF embryo has a genetic abnormality, such as an extra or a missing chromosome, then these embryos may not implant in mom’s uterus or may be lost in a miscarriage. Also, the baby may have birth defects and severe health problems. To increase the chances of successful implantation and to make sure the implanted embryo does not miscarry or have a genetic abnormality, genetic tests are done when the embryo is only a few cells big. A single cell or a couple of cells are taken from some embryos growing in the petri dish and are tested in a specialized diagnostic laboratory. The results of these tests are shared with the doctor and the couple, and a recommendation is made for an embryo without known genetic defects to be implanted. Traditionally, such a screening and diagnosis is done by observing the embryo-derived cells under the microscope to look for chromosomal abnormalities or by using DNA microchips. This takes a few days. Recently, however, scientists have been able to use next generation sequencing on a single cell of a five-day-old embryo to rule out any gross genetic abnormality before implantation. The first birth utilizing this technology happened in the United States in 2013 (First Baby Born After Full Genetic Screening of Embryos http://www.geneticsandsociety.org/article.php?id=6998). In the future, sequencing the whole genome using the next generation sequencing technology will provide additional information about genetic abnormalities in preimplantation embryos, and the opportunity to pick and choose the embryo. This methodology thus significantly improves the success of babies born by IVF. Preimplantation screening and diagnosis offer couples seeking IVF the opportunity to increase the chance of successful implantation and have a baby born without birth defects.