Fragile X syndrome is a genetic condition causing developmental issues in people. The problems can include cognitive impairment and learning disabilities. While xxx chromosome disorder is prevalent only in women, the fragile X chromosome disorder affects both men and women. But men are likely to have more severe consequences than females.
Most males with the disorder have a mild or moderate intellectual disability. But only one-third of females affected by the disease have intellectual disabilities. Usually, all affected individuals face delays in language and speech development by the time they are two.
Like the xxx chromosome disorder, the fragile X syndrome leads to specific physical characteristics. The characteristics only become more prominent with age.
Typical physical features observed in individuals with the disorder include large ears, a long and narrow face, abnormally flexible fingers, flat toes, and a prominent jaw and forehead. Males with this disorder also grow large testicles after hitting puberty.
Impact of Fragile X Syndrome on Fertility
Men suffering from the Fragile X syndrome are usually incapable of reproduction due to behavioral or cognitive issues. Males with this disorder also suffer from a low sperm count. They might also have malformed sperms. However, permutation carriers of men remain unaffected by fertility issues.
An estimated 20% of women with the FXS disorder develop primary ovarian insufficiency. It leads to menopause before a woman reaches 40 years of age. It makes their ovaries malfunction leading to infertility or decreased chances of conceiving.
Sometimes women suffering from the syndrome develop symptoms associated with menopause. However, they might not be menopausal.
Some women with fragile X syndrome might still conceive because their ovaries sometimes release healthy eggs. Women with a full mutation are not at an increased risk of primary ovarian insufficiency.
Assisted Reproduction in Affected Couples
All doctors recommend genetic analysis for women with genetic disorders. Couples with a history of FXS can choose reproductive options like prenatal diagnosis. It is often followed by a potential termination of any affected pregnancy.
But the decision regarding whether to terminate the pregnancy or not is often challenging. X-inactivation ratios in women and mosaicism in men make it difficult to predict the phenotype. Some strategies that couples can opt for are as follows:
- Chorionic Villus Sampling
The process enables the detection of FMR1 mutation. The diagnosis can occur with the fetus in the uterus and often produces reliable results. It uses fluid or tissue made from fetal cells for DNA analysis. The prenatal diagnosis allows the detection of chromosomal disorders in the fetus.
It samples the placental tissues to look for genetic abnormalities. The process usually occurs at 10 to 12 weeks.
It is another process suitable for detecting FMR1 mutation in the fetus. The medical procedure involves withdrawing a tiny amount of amniotic fluid from the sac around the baby.
The fluid contains fetal cells, which are analyzed to look for mutations. The process usually takes place at 14 to 16 weeks of pregnancy.
- Preimplantation Genetic Diagnosis
It revolves around studying the DNA of embryos or eggs. The analysis helps identify the ones that contain damaging characteristics. PGD ensures that unaffected embryos are transferred. Therefore, the trauma of terminating pregnancies can be avoided.
It will also prevent couples from making the difficult decision regarding whether to terminate the pregnancy if the fetus is a female carrier. It is helpful in situations where predicting the final phenotype of the girl is not possible.
- Egg Donation
Dysfunctional ovaries in women with fragile X syndrome are a significant challenge. It causes an increased cancellation rate of embryo transfer. Ovarian dysfunction also reduces the overall efficiency of PGD for women with this disease.
Some medical centers refrain from offering PGD to women with fragile X syndrome. The increasing cases of ineffective responses to hormonal stimulation have influenced the medical centers to make this decision.
PGD has also become an avoidable option due to its challenges in performing specific genetic tests. In this scenario, egg donation or embryo donation seems the best option.
Some women with a genetic disorder cannot produce healthy eggs to support a natural pregnancy. Egg donation is an option for women who cannot give birth to genetic children.
Since fragile X syndrome is a genetic condition, nothing can be done to prevent it. You cannot find ways to reduce the risk of fragile X syndrome in your children. If the FMR1 gene belongs to you, your children can get it.
Fragile X syndrome is not life-threatening, and the life expectancy rate of the affected people is the same as an average person. But women with the condition usually live longer than men.
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