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Genetic Treatment-PGD & PGS

Genetic Disorders

 

A genetic disorder is a disease that is caused by an abnormality in an individual’s DNA. Abnormalities can be as small as a single-base mutation in just one gene, or they can involve the addition or subtraction of entire chromosomes.

There Are three Genetic Disorders

  • Single-Gene-Disorder

  • Chromosomal Abnormalities

  • Multifactorial Disorders

Chromosomes explained

 

Chromosomes are of interest in fertility treatment because chromosome disorders occur in more than half of all first-trimester pregnancy losses. Many of these early miscarriages are due to the random occurrence of a chromosomal abnormality in the embryo.

In general, genetic diseases caused by chromosomal abnormalities are not inherited, but usually occur as random events during the formation of sperm, eggs and embryos.

Chromosomes are string-like structures that exist in all human cells and contain all genetic material, or genes. Each human cell has approximately 30,000 genes, which are made up of sequences of DNA (deoxyribonucleic acid), the strands of molecules that give every human unique physical traits.

Most human cells contain 23 pairs of chromosomes or 46 total. These include chromosomes 1 to 22 (the autosomes) and chromosomes X and Y (the sex chromosomes). However, sperm and eggs contain only 23 single chromosomes (one from each chromosome pair).

During fertilization, each parent contributes one chromosome of each pair to the embryo, producing a normal male (46,XY) or a normal female (46,XX).

Chromosomal abnormalities – variations from the normal male or normal female structure – may be either numerical or structural. The most common type of abnormality is known as aneuploidy, an abnormal number of chromosomes due to an extra or missing chromosome.

 

Single-gene diseases

 

If either the father’s sperm or the mother’s egg harbors a gene mutation, a resulting embryo might carry a genetic disorder.

Single-gene diseases are usually inherited in one of several patterns depending on the location of the gene (for example, chromosomes 1-22 or X and Y) and whether one or two normal copies of the gene are needed for normal protein activity. There are five ways single-gene diseases are inherited:

Autosomal dominant diseases occur when someone carrying one mutated copy of a gene in each cell is affected by the disease. Each affected person usually has one affected parent. These tend to occur in every generation of an affected family.

For X-linked dominant genetic diseases, females are more frequently affected than males. Fathers cannot pass X-linked traits to sons (no male-to-male transmission).

Mitochondrial means that only females can pass on mitochondrial diseases to their children (maternal inheritance). Both males and females can be affected, and mitochondrial diseases can appear in every generation of a family.

Autosomal recessive diseases mean affected individuals must carry two mutated copies of a gene. Parents of affected children are usually unaffected and each carry a single copy of the mutated gene (known as carriers). These do not typically occur in every generation.

 

Multifactorial diseases

 

Multifactorial genetic diseases are caused by a combination of genetic, behavioral and environmental factors. Examples of these conditions include spina bifada, diabetes, and heart disease.

While multifactorial diseases can recur in families, some mutations can be acquired throughout an individual’s lifetime such as in cancer. All genes work in the context of environment and behavior. Alterations in behavior or the environment, such as diet, exercise, exposure to toxic agents, or medications can all have influences on genetic traits.

Treatment of these diseases is currently beyond the scope of fertility medicine.

 

Genetic counseling

 

Genetic diseases are a complex topic, and the information here is meant only as an overview of the topic. If you and your partner believe you may be prone to genetic risks as parents, further research is warranted, as is the possibility of genetic counseling.

Genetic counselors work as part of a health care team, providing information and support to families affected by or at risk of a genetic disorder. They help to identify families at possible risk of a genetic disorder, gather and analyze family history and inheritance patterns, calculate risks of recurrence and provide information about genetic testing and related procedures.

Genetic counselors can help families to understand the cultural, personal, and familial implications of genetic risks by providing supportive counseling services, serving as patient advocates, and referring families to other health professionals and or services.

PGD -Treatment

Experience Preimplantation Genetic Diagnosis

Preimplantation Genetic Diagnosis as the term says is a procedure used before toimplantation to help identify genetic defects within embryos created through in vitro fertilization to prevent certain informities or genetic disorders from being passed on to the child.

Steps involved in Genetic Diagnosis

  • First, one or two cells are retrieved from the embryo.

  • The cells are then evaluated to determine if the inheritance of a problematic gene is present in the embryo.

  • Once the PGD procedure has been carried and embryos are diagnosed free of genetic problems, the embryo will be placed back in the uterus, and implantation will be attempted.

  • Any additional embryos that are free of genetic problems may be frozen for later use while embryos with the problematic gene are destroyed.

BENEFITS OF IVF WITH PGD

  • It can prevent and cure more than 100 types of genetic disorders.

  • The procedure is performed before implantation thus giving a fair chance to the couple to decide if they wish to continue with the pregnancy.

  • The procedure enables couples to pursue genetic child of their own who might not have done so otherwise.

ELIGIBLE CRITERIA

  • Carriers of sex-linked genetic disorders

  • Carriers of single gene disorders

  • Those with chromosomal disorders

  • Women age 35 and over

  • Women experiencing recurring pregnancy loss

  • Women will more than one failed fertility treatment

PGS-Treatment

Preimplantation genetic screening

  • PGS, preimplantation genetic screening, refers to removing one or more cells from an in vitro fertilization embryo to test for chromosomal normalcy

  • PGS screens the embryo for normal chromosome number

  • We can think of PGS as chromosomal disorder screening on IVF embryos

  • Humans have 23 pairs of chromosomes – for a total of 46

  • Down syndrome has an extra chromosome 21, referred to as trisomy 21. This should be detected by PGS.

  • PGS does not test for a specific disease – such as for cystic fibrosis – that process is referred to as PGD (preimplantation genetic diagnosis)

 

We Care Surrogacy

We care Surrogacy believes that everyone should be able to experience the gift of parenthood. We represent couples and singles, both gay and straight.

We Care Surrogacy
26/18, Toronto,
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Ontario,91762
Canada
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  • Phone: +1-909-999-6948

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Cost of PGD – PGS

Another issue is cost. PGD costs in the vary from about $4000-$8000 plus all other associated IVF costs. There are PGD related costs associated with the embryo biopsy procedure itself and there are also costs involved for the genetics laboratory performing the chromosomal analysis on the cells.

  • In order to do PGD one must first do IVF and pay the IVF costs

  • Then there is the biopsy cost and the genetics analysis of the cells

  • In the case of blastocyst biopsy, there will are additional fees for the frozen thawed embryo transfer cycle that is done after the genetics results come back.

  • Want To Explore More? Interested to know the cost of IVF with PGD?

    Fees are an estimate only and may be more depending on your situation.We offer a no obligation a free initial consultation

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