Preimplantation Genetic Screening of Human Embryos
Preimplantation genetic screening (PGS) or screening for aneuploidy is a well-established procedure in Ukraine to assess In vitro fertilized (IVF) embryos for genetic abnormalities. Embryos with chromosomal abnormalities often result in miscarriage or failed implantation, or children born with genetic conditions such as Down syndrome. Children born with such conditions have a difficult life in Ukraine, because the prevailing health system has few resources available to assist parents or help in the development of children with special needs.
Unfortunately, antenatal diagnosis of most genetic conditions is typically accompanied by advice to terminate the pregnancy. This is because views within Ukrainian society regard children with genetic abnormality as mentally unfit, odd, and not worth being given care. Because of this strongly negative social bias concerning genetic conditions in newborns, patients undergoing fertility treatment usually elect to screen embryos for genetic conditions to avoid difficult decisions later in pregnancy.
Embryo Testing In Ukraine: The Beginning
The first PGS in Ukraine was completed in Kyiv in 2006. As elsewhere, fluorescence in situ hybridization (FISH) was initially used in Ukraine as a diagnostic method to test embryos for couples that did not have a genetic defect were at high risk for aneuploidy owing to advanced maternal age, previously failed IVF treatment with reasonable morphologically assessed quality embryos, or male factor. However, over time, the market was moved to more advanced PGS testing such as the next generation sequencing (NGS) methods. Reproductive specialists in fertility clinics typically meet with patients to discuss preimplantation genetic screening and review the pros and cons of advanced testing, risks for the embryo tested, and the role of genetic counseling. In 2006, only 5% of patients in Ukraine included preimplantation genetic screening in their IVF cycle because of the cost and their unfamiliarity with the test. Today, approximately 25% of IVF in Ukraine involves preimplantation genetic screening, and the demand for such innovative technology appears to be growing.
Until recently, fertility clinics in Ukraine had no guidance from the Ministry of Health regarding PGS. However, on November 1, 2013, a rule was put into place by the government to assist clinics with this growing demand. By order of the Ukrainian Ministry of Health, “On approval of the application of assisted reproductive technologies in Ukraine,” on September 9, 2013, Rule 787 was published. The regulation stipulates indications for PGS, the advantages of performing PGS on embryos, and recommendations for future pregnancy screening. It also provides clinicians with a standardized consent form that the patient must complete to undergo PGS testing. This consent document carefully explains preimplantation genetic screening and describes the procedure of embryo biopsy in detail, as well as potential risks and adverse outcomes because of embryo biopsy. Reproductive specialists in Ukraine welcomed changes in legislation with regard to preimplantation genetic screening, because they established a proper framework for IVF clinics that offered this testing.
Elective embryo sex selection is also permissible in Ukraine. There are two primary reasons why IVF patients seek this service: 1) individual preference owing to sociocultural pressure to have a male child as a breadwinner, and 2) for family balancing.
A Rationale For Assessment
The impact of aneuploidy on families can be devastating; therefore, preimplantation genetic screening is seen as a way to shield many couples from the heartache of miscarriage, stillbirth, or a severely affected child. The average age at which mothers give birth to their first child continues to increase. For example, the age for first-time mothers in Ukraine is now 26 years. This underscores a need for preimplantation genetic screening in Ukraine, because health care for disabled children is poor. In 2009, among all disabled children in Ukraine aged 1-17 years, more than half (55%) were born with a genetic abnormality. This has led to difficulties in social, economic, and psychological dimensions for both the affected children and their family. Such families often encounter financial burdens including hospital bills and lack of rehabilitation centers or support groups. Years ago, couples with a disabled child were advised either to abandon it at birth or to place the child in an orphanage for the disabled. Children in such institutions faced a bleak outlook, because they were treated poorly and were often prescribed medications to keep them quiet. Accordingly, families in Ukraine dread having a child born with a genetic abnormality. Although the situation has improved in recent years, centers and hospitals for children with disabilities are still poorly equipped. Therefore, preimplantation genetic screening is often used to reduce the risk for offspring abnormalities in older women who are trying to conceive.
As is the case in other countries, some wealthy Ukrainian patients use preimplantation genetic screening purely to select the genetic sex of the baby for personal reasons unrelated to health or family balancing. Sex selection remains a controversial topic in Ukraine. It has the advantages of reducing sex-linked genetic disorders and balancing families, but it also has created bad publicity for being a tool to create a perfect baby. Despite the controversy surrounding preimplantation genetic screening and sex selection, technology has a lot to offer to patients from both the medical and social perspectives. Nowadays, about 70% of Ukrainian patients interested in elective sex selection are looking to have a baby girl. Women have a strong desire to have a daughter to replicate the relationship they had with their own mother. It is a personal and emotional decision that couples make, and many IVF clinics support it. Medical genetics has improved tremendously in technology over the past several decades and is likely to expand even more in coming years.
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