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Preimplantation Genetic Diagnosis (PGD)/Screening (PGS) With IVF
What is the importance of PGS/PGD ?
Pre-implantation genetic Screening (PGS) or Pre-implantation genetic diagnosis (PGD) plays an important role in increasing the chances of pregnancy for infertile couples.
What Is Preimplantation Genetic Diagnosis (PGD) ?
Preimplantation genetic diagnosis (PGD) is a procedure used to diagnose embryos for known genetic disorders that both the patients and partners.
PGD is mainly indicated for:
Preimplantation genetic screening (PGS) screens embryos to ensure 23 pairs of chromosomes (22 autosomes and the sex chromosomes X & Y) are present and there is no aneuploidy.
PGS is mainly indicated for:
If you have a history of recurrent IVF failures, recurrent pregnancy loss, advanced maternal age or any of the above genetic conditions then you are a candidate for PGD/PGS.
Process of PGS/PGD
What is the importance of PGS/PGD ?
Pre-implantation genetic Screening (PGS) or Pre-implantation genetic diagnosis (PGD) plays an important role in increasing the chances of pregnancy for infertile couples.
What Is Preimplantation Genetic Diagnosis (PGD) ?
Preimplantation genetic diagnosis (PGD) is a procedure used to diagnose embryos for known genetic disorders that both the patients and partners.
PGD is mainly indicated for:
- Beta Thalassemia Trait
- Sickle Cell
- Cystic Fibrosis
- SMA 1
- Tay Sachs
- Fragile X
Preimplantation genetic screening (PGS) screens embryos to ensure 23 pairs of chromosomes (22 autosomes and the sex chromosomes X & Y) are present and there is no aneuploidy.
PGS is mainly indicated for:
- Women of advanced maternal age
- Couples with history of recurrent pregnancy loss
- Couples with repeated IVF failure
- Male partner with severe male factor infertility
If you have a history of recurrent IVF failures, recurrent pregnancy loss, advanced maternal age or any of the above genetic conditions then you are a candidate for PGD/PGS.
Process of PGS/PGD
- The PGS treatment involves the basic steps of IVF (hormonal injections to grow multiple eggs in the ovaries, extraction of all eggs through transvaginal aspiration and fertilization of eggs with sperms in IVF laboratory) followed by biopsy of embryos on day 3 or day 5 (preferable).
- In day 3 embryo, blastomere is extracted from the 6-8 cell embryos and sent for the PGS/PGD in the genetic lab and healthy embryos can be transferred in the same cycle on day 5.
- In day 5 blastocyst, the biopsy of the trophectoderm is sent for the PGS/PGD in the genetic lab and the embryos are then cryo-preserved in that cycle.
- The patient is then re-prepared for the frozen embryo transfer, if the biopsied embryos are normal and then the embryos are thawed and transferred.
Pre-implantation Genetic Screening (PGS)
The field of human reproduction is constantly advancing, bringing tangible benefits to patients.
Preimplantation Genetic Screening (PGS) is used to help select for transfer of only the most healthy embryos. Routine in vitro fertilization (IVF) continues to result in the placement of embryos into the uterus that are not genetically intact and fail to produce a pregnancy. Further, some of these abnormal embryos will result in transiently positive pregnancy tests and/or early miscarriages.
This approach, using PGS, has been shown to reduce the chance of miscarriage. In fact, it appears to improve the successful reproductive chances for some older women who have experienced pregnancy losses associated with genetically abnormal conceptions. Finally, this may be a way of reducing the negative impact of a woman’s age on her pregnancy outcome.
Advanced Fertility Centers of West Texas, is amongst the leaders to implement this breakthrough technology in West Texas. The successes have been astoundingly positive and more patients are taking advantage of this service. As the experience has expanded, PGS appears to improve pregnancy rates for most infertility problems and is likely to become a common component of IVF cycles. Currently, embryos tested by PGS must be cryopreserved while waiting for test results. Surprisingly, this postponement of embryo transfer is showing evidence of better implantation than even fresh embryo transfers. Part of this progress was delivered by improvements in cryopreservation and thawing techniques.
The technology has arrived at last to improve the chances and restore confidence for women who have suffered repeated pregnancy losses. If you have experience with pregnancy loss, please know there is hope. If you know someone that has experienced this as well let them know that help is available.
The field of human reproduction is constantly advancing, bringing tangible benefits to patients.
Preimplantation Genetic Screening (PGS) is used to help select for transfer of only the most healthy embryos. Routine in vitro fertilization (IVF) continues to result in the placement of embryos into the uterus that are not genetically intact and fail to produce a pregnancy. Further, some of these abnormal embryos will result in transiently positive pregnancy tests and/or early miscarriages.
This approach, using PGS, has been shown to reduce the chance of miscarriage. In fact, it appears to improve the successful reproductive chances for some older women who have experienced pregnancy losses associated with genetically abnormal conceptions. Finally, this may be a way of reducing the negative impact of a woman’s age on her pregnancy outcome.
Advanced Fertility Centers of West Texas, is amongst the leaders to implement this breakthrough technology in West Texas. The successes have been astoundingly positive and more patients are taking advantage of this service. As the experience has expanded, PGS appears to improve pregnancy rates for most infertility problems and is likely to become a common component of IVF cycles. Currently, embryos tested by PGS must be cryopreserved while waiting for test results. Surprisingly, this postponement of embryo transfer is showing evidence of better implantation than even fresh embryo transfers. Part of this progress was delivered by improvements in cryopreservation and thawing techniques.
The technology has arrived at last to improve the chances and restore confidence for women who have suffered repeated pregnancy losses. If you have experience with pregnancy loss, please know there is hope. If you know someone that has experienced this as well let them know that help is available.
PGD: Preimplantation Genetic Diagnosis
Embryo biopsy is the more practical method for pre-implantation genetic diagnosis. The biopsy can be performed at one of the following stages:
Cleavage-stage Embryos
This is usually performed on day 3 embryos (i.e. 3 days after oocyte retrieval) which have normally reached the 6 to 10 cell stage. Under the inverted microscope used for micromanipulation the embryo is held by gentle suction from one side using the holding pipette. On the opposite side of the embryo, a hole is made in the zona pellucida either mechanically using a fine-glass knife or by applying acid Tyrode’s solution locally using a fine pipette. A fine-bore glass pipette can then be pushed through the hole and one or two blastomeres aspirated.
Blastocyst Stage Embryos
Here the biopsy is taken on day 5 or 6 (i.e. 5 or 6 days after oocyte retrieval). At this stage, the embryo has reached the blastocyst stage. The advantages of this technique is that more cells may be used for biopsy. In this technique, 3 to 5 cells are usually aspirated after drilling a hole in the zona pellucida using acid Tyrode’s solution. These cells are taken from the trophectoderm at the anembryonic pole away from the inner cell mass which will develop into the fetus.
Embryo biopsy is the more practical method for pre-implantation genetic diagnosis. The biopsy can be performed at one of the following stages:
Cleavage-stage Embryos
This is usually performed on day 3 embryos (i.e. 3 days after oocyte retrieval) which have normally reached the 6 to 10 cell stage. Under the inverted microscope used for micromanipulation the embryo is held by gentle suction from one side using the holding pipette. On the opposite side of the embryo, a hole is made in the zona pellucida either mechanically using a fine-glass knife or by applying acid Tyrode’s solution locally using a fine pipette. A fine-bore glass pipette can then be pushed through the hole and one or two blastomeres aspirated.
Blastocyst Stage Embryos
Here the biopsy is taken on day 5 or 6 (i.e. 5 or 6 days after oocyte retrieval). At this stage, the embryo has reached the blastocyst stage. The advantages of this technique is that more cells may be used for biopsy. In this technique, 3 to 5 cells are usually aspirated after drilling a hole in the zona pellucida using acid Tyrode’s solution. These cells are taken from the trophectoderm at the anembryonic pole away from the inner cell mass which will develop into the fetus.
Bio 101 DNA is the blueprint of life- It carries all the genetic information needed for our bodies to function. A section of DNA with a specific job is called a gene. Genes are packaged into bundles called chromosomes
Autosomal Recessive - Typically, genes come in pairs. You inherit one copy from your mom and one copy from you dad.
Sometimes, a gene develops a mutation or change so it stops working. A person who has a non-working gene is called a carrier. A carrier is usually health (unaffected), because their other gene is working.
If both parent are carriers, then their child may be affected. This happens when the child inherits two non-working genes (one from each parents). When two carriers have a child, there is a 1 in 4 chance that the child will be affected.
X-linked Conditions : Sex chromosomes determine whether we are male or female. Females have two X chromosomes, which means that they have two copies of every gene on the X chromosome. Males have one X and one Y chromosome, which means they get only one copy of the genes on the X chromosome. The Y chromosome has fewer and different genes than the X.
Sometimes, a gene develops a mutation or change so it stops working. The fragile X chromosome. It contains a section of DNA, called a CGG repeat. Some people have extra CGG repeats, which stop the gene from working. They are called carriers of fragile X syndrome.
If you are a carrier for an X-linked condition, there is no need to test your partner. With each pregnancy, there is a 1 in 2 chance that your baby will be affected. The exact risk depends on whether the baby is a boy or girl.
Facts About Carrier Screening
We all carry genetic changes that don’t impact our own health, but can cause disease in our children. Most people who learn they are carriers are healthy and have no known history of the condition in their family.
Most genetic disorders are autosomal recessive, which means that both parents must be a carrier for the child to be at risk. If you are a carrier of an autosomal recessive disorder, it is important to find out if your partner is also a carrier of the same disorder.
The are some disorders where only mom needs to be a carrier for the child to be at risk. These are called X-linked disorder.
All testing is optional. The decision to accept or decline genetic carrier screening is completely up to you.
What is Cystic Fibrosis?
Cystic fibrosis (CF) is the most common fatal genetic condition in many countries. It causes the body to produce thick mucus that can damage internal organs. It clogs the lungs, leading to life-threatening infections, and can cause digestive problems, poor growth and infertility. Symptoms range from mild to severe, but do not affect intelligence. On average, CF patients live into their late thirties with access to good medical care.
Anyone can be a carrier of CF. It occurs in all ethnicities, but it is more prevalent in some populations. If someone in your family has CF, your risk of being a carrier is greater.
Information & a video about screening for CF, text CFscreen to 95577.
What is Spinal muscular atrophy?
Spinal muscular atrophy (SMA) is the most common inherited cause of infant death. It affects a person’s ability to control their muscles, including those involved in breathing, eating, crawling and walking. SMA has different levels of severity, none of which affect intelligence. However, the most common form of the disorder causes death by age two.
Anyone can be a carrier of SMA. It occurs in all ethnicities, but it is more prevalent in some populations. If someone in your family has SMA, your risk of being a carrier is greater.
Information & a video about screening for FX, text SMAtest to 95577.
FX
Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability. Symptoms cover a wide range, from mild to severe. About one-third of all people with FXS also have autism. Individuals with the disorder may also have behavioral issues such as hyperactivity, social anxiety and aggression. Female usually have milder symptoms than males.
Anyone can be a carrier of FXS. About 1 in 250 women, worldwide, are carriers. If you have a family history of intellectual disability, autism, or infertility, then your risk may be greater. Carriers of FXS are unaffected by the disorder, but they are at risk for related health problems:
Fragile X-associated primary ovarian insufficiency: Causes infertility, early menopause, and other ovarian problems.
Fragile X-associated tremor/ataxia syndrome: An adult-onset neurological condition that causes tremors and problems with memory and balance.
Information & a video about screening for FX, text FXscreen to 95577.
Results for FXS fall into four categories:
Normal: Less than 45 CGG repeats
Not at risk to have a child with FXS.
Intermediate: 45-54 CGG repeats
Not at risk to have a child with FXS.
However, future generations may be carriers, because the number of repeats may increase as the gene is passed on.
Premutation (Carrier): 55-200 CGG repeats
Females are at risk to have a child with FXS.
Both males and females are also at risk for fragile X-associated disorders.
Full mutation (Affected): More than 200 CGG repeats
The individual may be affected by FXS. Females are at risk to have a child with FXS.
A mutation in the gene FMR-1 – located on the X chromosome – is responsible for this genetic disorder.
Since women have two X chromosomes, they still have one that is perfectly functioning if the FMR-1 gene is affected in the other.
Men only have one X chromosome, which is why they are more severely affected.
The mutation is caused by a “stutter”, which is when a small section of genetic material within the gene is repeated too many times.
Most normal people without this syndrome have between 5 and 40 repeats of this section, yet those with the disorder have more than 200 repeats.
Once the repeats surpass 200, it is referred to as a full mutation. When a full mutation happens, the gene shuts off and does not continue to create the protein it is supposed to. These proteins aid in brain development, so problems arise when the correct amount of proteins are not produced.
How is Fragile X Inherited?When an individual has a normal amount of repeats, they do not carry the disorderand therefore cannot pass it on to their children.
When a person has a medium amount of repeats (typically between 41-58), their children are not at risk for fragile X syndrome, though their grandchildren or great-great-grandchildren can be at risk due to the possibility of an increase in repeats throughout generations.
Those with pre mutations (59-200 repeats) can pass the syndrome to their child due to the risk of the increased number of repeats. However, since the mutation only affects the X chromosome, only a woman can pass the syndrome on.
A man with the pre mutation can pass the pre mutation to his daughter, though it will not develop into a full mutation and he cannot pass the premutation to his son. Women who are fragile X carriers having either a pre mutation or a full mutationhave a 50% chance of passing fragile X syndrome to their offspring.
How is it Diagnosed?Fragile X syndrome can be diagnosed through a blood test. The blood sample is sent off so that it can be tested for gene mutation. Boys with this disorder can be diagnosed as early as three years of age, while girls are typically diagnosed later around four years.
Jewish Conditions
Ashkenazi Jewish genetic diseases are a group of rare disorders that occur in all ethnicities but are more prevalent in people of Eastern European (Ashkenazi) Jewish heritage. We think that 1 in 4 people of Jewish heritage carry one of these conditions.
Add information based on what panels you plan to use.
Hemoglobinopathies
Sickle cell anemia, beta-thalassemia and alpha-thalassemia can be grouped as related blood disorders called hemoglobinopathies. These disorders are caused by changes in the gene that makes hemoglobin, the iron-containing protein in red blood cells that carries oxygen to cells throughout the body. There is wide range of severity across these disorders. Depending on the specific condition, symptoms can range from being completely unaffected to severe symptoms requiring chronic infusions and liver transplant or even fetal death.
Hemoglobinopathies are some of the most common genetic disorders worldwide. Over 5% of the world’s population carries one of these variants. People of African, Asian, Middle Eastern, Mediterranean, and Hispanic descent have a higher carrier risk, but hemoglobinopathies are found in populations across the globe.
Larger Panel Option
There are tests that can check for a more expansive list of disorders that cause serious health effects in infancy or childhood. These conditions can decrease life expectancy, have a severe impact on quality of life, are associated with degrees of intellectual disability and may have medical intervention or treatment available to reduce symptoms.
Information & a video about screening for FX, text GlobalTest to 95577.
DNA Testing & Results
A routine lab test analyzes DNA, and can determine whether you are a carrier.
A negative result indicates you are not a carrier of the gene changes you were tested for. However, no genetic test is perfect. There is still a very small chance that you could be a carrier even if your result is negative.
A positive result tells you that you are a carrier of CF, and you could be at risk of having an affected child. If you are a carrier for an autosomal recessive condition, it is important to find out if your partner is also a carrier. If you and your partner are both carriers, then you are at risk of conceiving a child who is affected with the disorder. With each pregnancy, there is a 1 in 4 chance that your baby will be affected.
If you are a carrier for an X-linked condition, there is no need to test your partner. With each pregnancy, there is a 1 in 2 chance that your baby will be affected. The exact risk depends on whether the baby is a boy or girl.
If you are pregnant, prenatal diagnostic tests can tell you whether your baby is affected by the disorder. This information can help guide the management of your pregnancy, and can also give you critical time to prepare- physically, financially and emotionally- for the birth of a child with extra needs.
If you learn of your carrier status before conceiving, there are ways to prevent genetic disorders prior to pregnancy.
Let us know how we can help!
Autosomal Recessive - Typically, genes come in pairs. You inherit one copy from your mom and one copy from you dad.
Sometimes, a gene develops a mutation or change so it stops working. A person who has a non-working gene is called a carrier. A carrier is usually health (unaffected), because their other gene is working.
If both parent are carriers, then their child may be affected. This happens when the child inherits two non-working genes (one from each parents). When two carriers have a child, there is a 1 in 4 chance that the child will be affected.
X-linked Conditions : Sex chromosomes determine whether we are male or female. Females have two X chromosomes, which means that they have two copies of every gene on the X chromosome. Males have one X and one Y chromosome, which means they get only one copy of the genes on the X chromosome. The Y chromosome has fewer and different genes than the X.
Sometimes, a gene develops a mutation or change so it stops working. The fragile X chromosome. It contains a section of DNA, called a CGG repeat. Some people have extra CGG repeats, which stop the gene from working. They are called carriers of fragile X syndrome.
If you are a carrier for an X-linked condition, there is no need to test your partner. With each pregnancy, there is a 1 in 2 chance that your baby will be affected. The exact risk depends on whether the baby is a boy or girl.
Facts About Carrier Screening
- 80% of babies born with an autosomal recessive condition have no family history of the disease
- ACOG and ACMG recommend consideration of testing all women for 29 conditions
- Cystic Fibrosis
- Spinal Muscular Atrophy
- Fragile X Syndrome
- Hemoglobinopathies (Sickle cell, beta-thalassemia, alpha-thalassemia)
- Ashkenazi Jewish Disorders (20+ disorders including Tay Sachs, Gaucher, Familial Dysautonomia)
- 1/8 people are silent carriers of one of these 29 conditions
We all carry genetic changes that don’t impact our own health, but can cause disease in our children. Most people who learn they are carriers are healthy and have no known history of the condition in their family.
Most genetic disorders are autosomal recessive, which means that both parents must be a carrier for the child to be at risk. If you are a carrier of an autosomal recessive disorder, it is important to find out if your partner is also a carrier of the same disorder.
The are some disorders where only mom needs to be a carrier for the child to be at risk. These are called X-linked disorder.
All testing is optional. The decision to accept or decline genetic carrier screening is completely up to you.
What is Cystic Fibrosis?
Cystic fibrosis (CF) is the most common fatal genetic condition in many countries. It causes the body to produce thick mucus that can damage internal organs. It clogs the lungs, leading to life-threatening infections, and can cause digestive problems, poor growth and infertility. Symptoms range from mild to severe, but do not affect intelligence. On average, CF patients live into their late thirties with access to good medical care.
Anyone can be a carrier of CF. It occurs in all ethnicities, but it is more prevalent in some populations. If someone in your family has CF, your risk of being a carrier is greater.
Information & a video about screening for CF, text CFscreen to 95577.
What is Spinal muscular atrophy?
Spinal muscular atrophy (SMA) is the most common inherited cause of infant death. It affects a person’s ability to control their muscles, including those involved in breathing, eating, crawling and walking. SMA has different levels of severity, none of which affect intelligence. However, the most common form of the disorder causes death by age two.
Anyone can be a carrier of SMA. It occurs in all ethnicities, but it is more prevalent in some populations. If someone in your family has SMA, your risk of being a carrier is greater.
Information & a video about screening for FX, text SMAtest to 95577.
FX
Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability. Symptoms cover a wide range, from mild to severe. About one-third of all people with FXS also have autism. Individuals with the disorder may also have behavioral issues such as hyperactivity, social anxiety and aggression. Female usually have milder symptoms than males.
Anyone can be a carrier of FXS. About 1 in 250 women, worldwide, are carriers. If you have a family history of intellectual disability, autism, or infertility, then your risk may be greater. Carriers of FXS are unaffected by the disorder, but they are at risk for related health problems:
Fragile X-associated primary ovarian insufficiency: Causes infertility, early menopause, and other ovarian problems.
Fragile X-associated tremor/ataxia syndrome: An adult-onset neurological condition that causes tremors and problems with memory and balance.
Information & a video about screening for FX, text FXscreen to 95577.
Results for FXS fall into four categories:
Normal: Less than 45 CGG repeats
Not at risk to have a child with FXS.
Intermediate: 45-54 CGG repeats
Not at risk to have a child with FXS.
However, future generations may be carriers, because the number of repeats may increase as the gene is passed on.
Premutation (Carrier): 55-200 CGG repeats
Females are at risk to have a child with FXS.
Both males and females are also at risk for fragile X-associated disorders.
Full mutation (Affected): More than 200 CGG repeats
The individual may be affected by FXS. Females are at risk to have a child with FXS.
A mutation in the gene FMR-1 – located on the X chromosome – is responsible for this genetic disorder.
Since women have two X chromosomes, they still have one that is perfectly functioning if the FMR-1 gene is affected in the other.
Men only have one X chromosome, which is why they are more severely affected.
The mutation is caused by a “stutter”, which is when a small section of genetic material within the gene is repeated too many times.
Most normal people without this syndrome have between 5 and 40 repeats of this section, yet those with the disorder have more than 200 repeats.
Once the repeats surpass 200, it is referred to as a full mutation. When a full mutation happens, the gene shuts off and does not continue to create the protein it is supposed to. These proteins aid in brain development, so problems arise when the correct amount of proteins are not produced.
How is Fragile X Inherited?When an individual has a normal amount of repeats, they do not carry the disorderand therefore cannot pass it on to their children.
When a person has a medium amount of repeats (typically between 41-58), their children are not at risk for fragile X syndrome, though their grandchildren or great-great-grandchildren can be at risk due to the possibility of an increase in repeats throughout generations.
Those with pre mutations (59-200 repeats) can pass the syndrome to their child due to the risk of the increased number of repeats. However, since the mutation only affects the X chromosome, only a woman can pass the syndrome on.
A man with the pre mutation can pass the pre mutation to his daughter, though it will not develop into a full mutation and he cannot pass the premutation to his son. Women who are fragile X carriers having either a pre mutation or a full mutationhave a 50% chance of passing fragile X syndrome to their offspring.
How is it Diagnosed?Fragile X syndrome can be diagnosed through a blood test. The blood sample is sent off so that it can be tested for gene mutation. Boys with this disorder can be diagnosed as early as three years of age, while girls are typically diagnosed later around four years.
Jewish Conditions
Ashkenazi Jewish genetic diseases are a group of rare disorders that occur in all ethnicities but are more prevalent in people of Eastern European (Ashkenazi) Jewish heritage. We think that 1 in 4 people of Jewish heritage carry one of these conditions.
Add information based on what panels you plan to use.
Hemoglobinopathies
Sickle cell anemia, beta-thalassemia and alpha-thalassemia can be grouped as related blood disorders called hemoglobinopathies. These disorders are caused by changes in the gene that makes hemoglobin, the iron-containing protein in red blood cells that carries oxygen to cells throughout the body. There is wide range of severity across these disorders. Depending on the specific condition, symptoms can range from being completely unaffected to severe symptoms requiring chronic infusions and liver transplant or even fetal death.
Hemoglobinopathies are some of the most common genetic disorders worldwide. Over 5% of the world’s population carries one of these variants. People of African, Asian, Middle Eastern, Mediterranean, and Hispanic descent have a higher carrier risk, but hemoglobinopathies are found in populations across the globe.
Larger Panel Option
There are tests that can check for a more expansive list of disorders that cause serious health effects in infancy or childhood. These conditions can decrease life expectancy, have a severe impact on quality of life, are associated with degrees of intellectual disability and may have medical intervention or treatment available to reduce symptoms.
Information & a video about screening for FX, text GlobalTest to 95577.
DNA Testing & Results
A routine lab test analyzes DNA, and can determine whether you are a carrier.
A negative result indicates you are not a carrier of the gene changes you were tested for. However, no genetic test is perfect. There is still a very small chance that you could be a carrier even if your result is negative.
A positive result tells you that you are a carrier of CF, and you could be at risk of having an affected child. If you are a carrier for an autosomal recessive condition, it is important to find out if your partner is also a carrier. If you and your partner are both carriers, then you are at risk of conceiving a child who is affected with the disorder. With each pregnancy, there is a 1 in 4 chance that your baby will be affected.
If you are a carrier for an X-linked condition, there is no need to test your partner. With each pregnancy, there is a 1 in 2 chance that your baby will be affected. The exact risk depends on whether the baby is a boy or girl.
If you are pregnant, prenatal diagnostic tests can tell you whether your baby is affected by the disorder. This information can help guide the management of your pregnancy, and can also give you critical time to prepare- physically, financially and emotionally- for the birth of a child with extra needs.
If you learn of your carrier status before conceiving, there are ways to prevent genetic disorders prior to pregnancy.
Let us know how we can help!
Fragile X syndrome:
DiGeorge Syndrome – 22q11.2 deletion syndrome
DiGeorge syndrome caused by deletion – missing part of chromosome 22 ; known more accurately by broader term – 22q11.2 deletion syndrome. Medical sequel of the syndrome include heart defects, cleft palate, poor immune system function, low level of calcium in blood with its consequences, delayed development with emotional and behavioral problems.
Number and severity of symptoms vary. Signs and symptoms of DiGeorge syndrome (22q11.2 deletion syndrome) can vary in type and severity, depending on what body systems are affected and how severe the defects are
Each person has two copies of chromosome 22, one inherited from each parent. If a person has DiGeorge syndrome (22q11.2 deletion syndrome), one copy of chromosome 22 is missing a segment that includes an estimated 30 to 40 genes. Many of these genes haven't been clearly identified and aren't well-understood. The region of chromosome 22 that's deleted is known as 22q11.2.
Patients with 22q11.2 DS usually have characteristic facial features. Common ones include the following (see the images below):
DiGeorge syndrome caused by deletion – missing part of chromosome 22 ; known more accurately by broader term – 22q11.2 deletion syndrome. Medical sequel of the syndrome include heart defects, cleft palate, poor immune system function, low level of calcium in blood with its consequences, delayed development with emotional and behavioral problems.
Number and severity of symptoms vary. Signs and symptoms of DiGeorge syndrome (22q11.2 deletion syndrome) can vary in type and severity, depending on what body systems are affected and how severe the defects are
Each person has two copies of chromosome 22, one inherited from each parent. If a person has DiGeorge syndrome (22q11.2 deletion syndrome), one copy of chromosome 22 is missing a segment that includes an estimated 30 to 40 genes. Many of these genes haven't been clearly identified and aren't well-understood. The region of chromosome 22 that's deleted is known as 22q11.2.
Patients with 22q11.2 DS usually have characteristic facial features. Common ones include the following (see the images below):
- Retrognathia or micrognathia
- Long face
- High and broad nasal bridge
- Narrow palpebral fissures
- Small teeth
- Asymmetrical crying face
- Downturned mouth
- Short philtrum
- Low-set, malformed ears
- Hypertelorism
- Dimple on the tip of the nose