Pregnancy Options for Carrier of Fragile X Syndrome

Fragile X Syndrome / Pregnancy Options for Carrier of Fragile X Syndrome

Fragile X syndrome (FXS) denotes a genetic disorder, which leads to development of numerous growth-related issues, such as cognitive impairment and learning disabilities. Typically, the syndrome affects males more intensely compared to females (Genetic Home Reference, 2015).

Decision and its reason

If I were a FXS carrier, I would choose to use an egg donor for having a baby. This alternative provides the benefit of reducing FXS risks as the recipient or carrier need not necessarily possess her own eggs in a sufficient quantity. As such, there is a marked aversion to both, risks of the disorder and that of ovarian dysfunction associated with FXS. The risk in making use of an egg donor to get pregnant are - possible uncertainty regarding the family history of the donor (i.e., medical conditions apart from the genetic disorders tested for during examination) or feeling bad about the baby hailing from a biological and cultural background different from its recipient mother (NFXF, 2015).

Risks Involved in Each Scenario

Getting pregnant using your own egg

The baby would show FXS symptoms early on, including delay in growth-related milestones like speech, progressing further to develop moderate levels of intellectual disability. Individuals affected by the syndrome exhibit behavior similar to autistic people, in addition to hyperactivity and anxiety. Physical features of affected persons include prominent ears and a long and narrow face. There are more males with the disorder than females; and the severity of symptoms is often greater in males (GSG, 2013).

Getting pregnant using an egg donor

The donor will be an unknown person, and there is a chance she may also be carrying FXS (HIPAA Notice, 2006).

Getting pregnant by adoption

The process of adoption for getting pregnant is associated with complications in embryo transfer, as well as a possibility of procuring infection (Resolve, 2015).

Steps to be taken to reduce risks

Getting pregnant using your own egg

FXS is diagnosed generally by blood samples testing Healthcare providers obtain blood samples from females and send it for lab-testing, to identify the type of FMR1 (Fragile X Mental Retardation 1) gene in the woman. Mutated gene may be transmitted to children of expectant mothers with FMR1 full- or pre-mutation. A prenatal examination enables healthcare experts to spot this mutated gene during fetus development. This crucial information will allow doctors and families to be prepared for FXS in the child and ensure early intervention for him/her (Cleveland Clinic, 2015).

Getting pregnant using egg donor

The foremost step to be taken is deciding what features/qualities one wishes in a donor. Egg donors may be known (family or friend) or unknown (any anonymous donor). Prospective egg donors have to be examined in the following aspects - their medical history with regards to hereditary diseases, birth defects and general medical issues; social history; sexually transmitted disease (STD) tests,, physical examination; and psychological screening (American Pregnancy Association, 2015).

Getting pregnant by adoption

Several key aspects have to be considered in the initial stages of known embryo adoption, when the recipient intends to not visit the donors' hospital for embryo transfer personally. Recipients have to personally clarify whether their health center accepts embryos from other health centers for the purpose of transfer; whether a Frozen Embryo Transfer (FET) will be performed by their clinic of choice using a known donor's embryo;, screening/testing requirements for self and donor, other conditions for acceptance of embryo;, paperwork and transfer conditions of the receiving health center, and timeframe for paper work processing (Miracles Waiting, 2013).

Ethical Considerations

In-vitro fertilization (IVF) and pre-genetic determination are both rather expensive services, and everyone needing or desiring to make use of them may not be able to do so. This elicits tricky questions relating to equity and social justice, as well as whether covering such services is a morally responsible deed when there are extremely scarce social resources available for preventive and life-saving health services (Nelson, 2015).