Big Care

From Dreams to Dirty Diapers

Preconception

Carrier screening: This test identifies if the parents carry genes for specific genetic disorders that could be passed on to their child.
Chromosomal analysis: This test examines the chromosomes to detect any structural abnormalities or changes in chromosome number that could lead to genetic disorders.
Polygenic risk assessment: This test determines an individual’s risk of developing certain complex genetic conditions, such as heart disease or type 2 diabetes, based on their genetic profile.
Cystic fibrosis carrier testing: This test identifies carriers of the gene for cystic fibrosis, a genetic disease that affects the respiratory and digestive systems.
Spinal muscular atrophy carrier testing: This test identifies carriers of the gene for spinal muscular atrophy, a genetic disorder that causes muscle weakness and wasting.
Thalassemia carrier testing: This test identifies carriers of the gene for thalassemia, an inherited blood disorder that affects hemoglobin production.
Tay-Sachs disease carrier testing: This test identifies carriers of the gene for Tay-Sachs disease, a genetic disorder that leads to progressive destruction of the nervous system.

It is important to consult with a healthcare provider to determine which genetic tests are recommended based on individual and family history, as well as personal preferences.

IVF Treatment

You can still mark your IVF journey safe and healthy. Choose the right genetic testing options available for pregnant women to help identify potential genetic disorders or birth defects in their unborn child.

PGT- A : End your struggle to conceive

Preimplantation genetic testing for aneuploidy (PGT-A) is a specialized genetic testing procedure that is used to detect chromosomal abnormalities in embryos created through in-vitro fertilization (IVF) before they are implanted into the uterus. PGT-A is used to identify embryos that have the correct number of chromosomes, also known as euploid, and those that have an abnormal number of chromosomes, also known as aneuploid.

During PGT-A, a small number of cells are removed from an embryo and analyzed for chromosomal abnormalities. This allows doctors to select the most viable and healthy embryos for implantation, increasing the chances of a successful pregnancy. PGT-A is a boon for couples who have had multiple failed IVF cycles or for those who are at a higher risk of having a child with a chromosomal disorder such as Down syndrome.

PGT-A is Recommended For:

Reduced risk of miscarriage: Embryos that have chromosomal abnormalities are more likely to result in miscarriage. By identifying and discarding these embryos, PGT-A reduces the risk of miscarriage.
Identifying Genetic Disorders: PGT-A can also be used to identify embryos that carry genetic disorders, allowing couples to make informed decisions about family planning.
Advanced Reproductive Age: As women age, the risk of having a child with chromosomal abnormalities increases. PGT-A can help identify chromosomally normal embryos in women of advanced reproductive age, increasing the chances of a successful pregnancy.
Recurrent IVF failure: For couples who have had multiple failed IVF cycles, PGT-A can help identify chromosomally normal embryos that may have been overlooked in previous cycles.

Benefits of PGT-A

Increases the chance of a healthy pregnancy across all age groups-The risk of having a pregnancy with a chromosome abnormality increases as females age.
Reduces the likelihood of miscarriage- Embryos are chosen primarily on their visual quality – which cannot distinguish chromosomally normal embryos from abnormal ones. IVF cycles that do include PGS enable the identification of embryos with normal chromosomes, and are more likely to result in a pregnancy that leads to a healthy baby.
Reduces time between IVF cycles-Preimplantation Genetic Screening reduces time between IVF cycles by allowing the identification of a normal embryo as soon as possible. If a woman goes through an IVF cycle and a normal embryo is not identified, she can start her next cycle right away.
Allows for confident single-embryo transfer, which helps avoid the added health complications associated with twin or triplet pregnancies-PGS allows for single-embryo transfer by identifying the embryo that has the best chances of implanting and leading to a healthy child. Multiple pregnancies can cause increased risk for complications during pregnancy, such as preterm birth, abnormal placental function, preeclampsia, and others.

PGT- M : Ensure your baby’s good health and minimize the risk of genetic disorder

Preimplantation Genetic Testing for Monogenic disorders (PGT-M) is a specialized genetic testing procedure used to detect specific genetic disorders caused by mutations in a single gene. PGT-M is used to identify embryos that carry a specific genetic disorder before they are implanted into the uterus, increasing the chances of having a healthy child.

During PGT-M, a small number of cells are removed from an embryo created through in-vitro fertilization (IVF) and analyzed for specific genetic mutations associated with a particular disorder. This can be done by using techniques such as PCR, Sanger sequencing, or Next generation sequencing (NGS).

PGT-M can be used to test for a wide range of monogenic disorders, such as cystic fibrosis, sickle cell anemia, Tay-Sachs disease, and many others. It’s important to note that PGT-M is not a diagnostic test and is not always able to detect all genetic mutations. Therefore it is important to seek genetic counseling before making any decision about undergoing PGT-M.

– PGT-M is Recommended for:

Couples who have a family history of a specific genetic disorder: PGT-M can be used to identify embryos that do not carry the genetic mutation associated with the disorder and increase the chances of having a healthy child.
Couples who are carriers of a specific genetic disorder: PGT-M can be used to identify embryos that carry the genetic mutation associated with the disorder and allow couples to make informed decisions about family planning.
Couples who have previously had a child with a specific genetic disorder: PGT-M can be used to identify embryos that do not carry the genetic mutation associated with the disorder and increase the chances of having a healthy child in the future.
Couples with recurrent miscarriage: PGT-M can be used to identify embryos that carry genetic mutations associated with recurrent miscarriage, and increase the chances of a successful pregnancy.
Couples with advanced reproductive age: As women age, the risk of having a child with genetic disorders increases. PGT-M can be used to identify embryos that do not carry genetic mutations associated with these disorders, and increase the chances of a successful pregnancy.

– How is the PGT-M performed?

Preimplantation genetic diagnosis begins with the normal process of in vitro fertilization that includes egg retrieval and fertilization in a laboratory. Over the next three days the embryo will divide into eight cells.

Preimplantation genetic diagnosis involves the following steps:

First, one or two cells are removed from the embryo.
The cells are then evaluated to determine if the inheritance of a problematic gene is present in the embryo.
Once the PGT-M procedure has been performed and embryos free of genetic problems have been identified, 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.

HLA Typing – It is possible to save your child from any genetic disorder

HLA typing is used to identify the HLA alleles of the embryos created during the IVF process. This information can be used to select the most suitable embryo for implantation in the uterus, with the goal of increasing the chances of a successful pregnancy. There are different methods for HLA typing embryos, but one commonly used technique is called preimplantation genetic testing for HLA matching (PGT-HLA). This method involves removing one or a few cells from an early-stage embryo, and then analyzing the cells’ DNA to determine the HLA alleles.

PGT-HLA can be used to match the HLA alleles of the embryos with those of the intended parents or with those of a sibling who is affected by a genetic disorder that is HLA-related. It also can be used to identify embryos that are not suitable for implantation due to chromosomal or genetic abnormalities.

What is HLA?

HLA or Human leukocyte antigen is our health DNA, which is responsible for strengthening our immune system.

HLA matching is used in conjunction with PGD for healing children with genetic illnesses such as thalassemia, leukemia, Wiskott Aldrich syndrome. It is an ideal option for couples who can’t find a suitable donor in close relatives.

How HLA Matching Works?

HLA Matching works with the aid of stem cell transplantation from a sibling born out of IVF.

Couples undergo the IVF process, and a PGD (PGD (Pre Genetic Diagnostics) is done during fertilization of the embryos for checking HLA compatibility with the sick sibling.

Upon successful IVF motherhood, the stem cells from the chord of the resulting child are used to cure the sick sibling. This process is known as “HLA typing in embryos.”

Other than curing genetic conditions in siblings, HLA matching can also be used to ensure a safe and healthy IVF baby for couples carrying genetic disorders.

PGT-SR : A healthy pregnancy is possible even after failed IVF Cycle, Recurrent Abortion or Advanced Age

Preimplantation genetic testing for structural chromosomal rearrangements (PGT-SR) is a specialized genetic testing procedure that is used to detect structural chromosomal rearrangements in embryos created through in-vitro fertilization (IVF) before they are implanted into the uterus. Structural chromosomal rearrangements are changes in the structure of chromosomes such as deletions, duplications, inversions, and translocations. These changes can affect the normal functioning of the genes and can lead to genetic disorders.

During PGT-SR, a small number of cells are removed from an embryo and analyzed for structural chromosomal rearrangements. This can be done by using techniques such as fluorescence in situ hybridization (FISH) or array comparative genomic hybridization (aCGH). This allows doctors to select the most viable and healthy embryos for implantation, increasing the chances of a successful pregnancy.

PGT-SR is recommended for couples

Multiple failed IVF cycles
Recurrent miscarriage
Advanced reproductive age
Have a family history of structural chromosomal rearrangements, such as Down syndrome, Turner syndrome, and others.

The benefits of PGT-SR include:

Identifying and avoiding the transfer of embryos with structural chromosomal rearrangements, which can lead to genetic disorders or miscarriage.
Improving the chances of having a healthy baby by selecting only unaffected embryos for transfer.
Reducing the need for invasive prenatal testing, such as amniocentesis, which carries a small risk of miscarriage.
Helping couples who have a history of recurrent miscarriage or who are at a high risk of having a baby with a genetic disorder to have a healthy pregnancy.
It can also help in cases of recurrent implantation failure or recurrent IVF failure.

Mitochondrial Score: Conceiving is possible even if you have a poor ovarian reserve or low AMH

Mitochondrial score is a measurement of the functional status of the mitochondria, which are the energy-producing organelles within cells. Mitochondria play a crucial role in the energy metabolism of cells, and their dysfunction has been linked to a wide range of diseases, including infertility.

Mitochondrial score is used as a tool in the field of reproductive medicine, specifically in the evaluation of embryos during IVF, in order to select the most viable and healthy embryos for implantation. A higher mitochondrial score is believed to indicate that the embryo has a greater chance of implanting and developing into a healthy pregnancy.

Mitochondrial score is used in combination with other parameters, such as chromosomal analysis, to make a comprehensive assessment of the embryo’s overall quality.

Mitochondrial score is recommended for couples who are undergoing IVF or other ART treatments and have one or more of the following:

Advanced maternal age (usually defined as over 35 years old)
Recurrent implantation failure
Recurrent IVF failure
Poor egg or embryo quality
Poor ovarian reserve

Mitochondrial score can provide information on the quality of the eggs, which can be used to predict the chances of success with IVF and other ART treatments.

Maternal & New-born

During pregnancy, it is important to take the necessary steps to ensure the health and well-being of both the mother and the baby.

Product of Conception- Miscarriage doesn’t mean you can’t have a healthy pregnancy

The term “product of conception” (POC) refers to the tissue that results from the fertilization of an egg by a sperm. This tissue includes the developing embryo, placenta, and any associated extra-embryonic membranes.

POC is a term used to describe the tissue that is formed after fertilization and that develops into the fetus, placenta, and membranes. The term is commonly used in obstetrics and gynecology to refer to the tissue that is expelled or removed from the uterus during a miscarriage, or from a dilation and curettage (D&C) procedure.

During a miscarriage, the POC is expelled from the uterus and can be examined to determine the cause of the miscarriage and to rule out any abnormalities. In case of D&C, the procedure is performed to remove the POC from the uterus if it is not completely expelled.

It is worth noting that the term POC is also used in the context of prenatal diagnosis, where it refers to the sample of cells collected by chorionic villus sampling (CVS) or amniocentesis, which are used to diagnose chromosomal or genetic disorders.

NIPS– Your first check post for ensuring a healthy pregnancy

Non-Invasive Prenatal Screening (NIPS) is a type of prenatal test that uses a small sample of the mother’s blood to detect chromosomal abnormalities in the developing fetus. It is typically offered to pregnant women who are at an increased risk of having a baby with certain chromosomal conditions, such as Down syndrome, but it should be offered to all pregnant women regardless of their risk factors.

NIPS can be performed as early as 10 weeks of pregnancy and can detect chromosomal abnormalities such as Down syndrome, Edwards syndrome and Patau syndrome. It can also detect some microdeletions syndromes such as DiGeorge, Prader Willi, Angelman, and Cri du Chat.

The benefits of NIPS include:

It is a non-invasive test that does not carry the risks associated with invasive prenatal diagnostic tests such as amniocentesis and chorionic villus sampling (CVS)
It can be performed early in pregnancy, which allows for earlier detection of chromosomal abnormalities and more time for couples to make informed decisions about their pregnancy
It is highly accurate, with detection rates of greater than 99% for certain chromosomal abnormalities.

Indications:

Advanced maternal age- NIPS can be useful for women who are 35 years or older, even if they are not considered to be at an increased risk of chromosomal abnormalities. This is because these women may have a higher chance of miscarriage or other complications during pregnancy, and an early diagnosis of a chromosomal abnormality can help them make more informed decisions about their care.
An abnormal serum screen- Non-Invasive Prenatal Screening (NIPS) can be used in conjunction with other prenatal screening tests, such as serum screening, to help identify women who are at an increased risk of having a baby with chromosomal abnormalities.

If a woman receives an abnormal result on a serum screening test, such as a positive result on a first or second trimester screening, her healthcare provider may recommend NIPS as a follow-up test. This is because NIPS can provide more detailed and accurate information about the risk of chromosomal abnormalities, including Down syndrome, Edwards syndrome, and Patau syndrome, than traditional serum screening tests alone.

Personal or family history of aneuploid- Non-Invasive Prenatal Screening (NIPS) can be used for women who have a personal or family history of aneuploidy, which is an abnormal number of chromosomes in a cell. Aneuploidy can lead to chromosomal disorders such as Down syndrome, Edwards syndrome, and Patau syndrome.

Women with a personal or family history of aneuploidy may be at an increased risk of having a baby with a chromosomal disorder, and NIPS can provide important information about the risk of chromosomal abnormalities in the developing fetus. This can help couples make more informed decisions about their pregnancy and prepare for the potential outcomes.

Abnormal ultrasound- An abnormal result on an ultrasound is an indication of a possible chromosomal disorder or structural abnormality. NIPS can provide more detailed and accurate information about the risk of chromosomal abnormalities and can help in identifying possible chromosomal disorder or structural abnormality.

Chromosomal Microarray- Mark your pregnancy safe from Day 1

Chromosomal microarray (CMA) is a genetic test that can detect chromosomal abnormalities that may not be visible with traditional karyotyping. It is a type of genetic testing that examines all of the chromosomes in a person’s DNA in order to detect missing or extra pieces of DNA, called copy number variations (CNVs).

CMA is a more sensitive test than traditional karyotyping, and can detect a wide range of chromosomal abnormalities, including small deletions or duplications of DNA that may not be visible with traditional karyotyping. It can also detect structural abnormalities of chromosomes.

CMA can be used for prenatal, postnatal or preimplantation genetic diagnosis (PGD) and can be performed on blood, amniotic fluid, chorionic villi or preimplantation embryos.

The benefits of CMA include:

Increased detection rate of chromosomal abnormalities compared to traditional karyotyping
Can detect smaller chromosomal abnormalities that may not be visible with traditional karyotyping
It can also detect submicroscopic imbalances and structural abnormalities which are not visible on karyotyping.
It can also detect gene-specific copy number variations that may be associated with a specific genetic disorder.
It can also be used for carrier testing for specific genetic disorders

Chromosomal Microarray (CMA) is a genetic test that can detect chromosomal abnormalities that may not be visible with traditional karyotyping. It is used to detect missing or extra pieces of DNA, called copy number variations (CNVs) and structural abnormalities of chromosomes. Indications for CMA include:

Prenatal testing: CMA can be used to detect chromosomal abnormalities in a developing fetus, it can be performed on a sample of the mother’s blood, amniotic fluid, chorionic villi or the placenta. It can detect a wide range of chromosomal abnormalities, including small deletions, duplications and structural abnormalities of chromosomes.
Postnatal diagnosis: CMA can be used to diagnose chromosomal abnormalities in newborns and children, it can be performed on a sample of blood, buccal swab or hair root.
Preimplantation genetic diagnosis (PGD): CMA can be used to detect chromosomal abnormalities in embryos before they are implanted into the uterus, this is particularly useful for couples who are at a high risk of having a baby with a chromosomal abnormality or a genetic disorder.
Carrier testing: CMA can be used to detect copy number variations that may be associated with a specific genetic disorder, this is particularly useful for families with a history of a specific genetic disorder or for couples who are at a high risk of having a baby with a genetic disorder.
Recurrent miscarriage: CMA can be used to detect chromosomal abnormalities in couples who have had recurrent miscarriages.
Recurrent implantation failure or recurrent IVF failure: CMA can be used to detect chromosomal abnormalities in couples who have had recurrent implantation failure or recurrent IVF failure.
Poor quality embryos or poor ovarian reserve: CMA can be used to detect chromosomal abnormalities in couples who have had poor quality embryos or poor ovarian reserve.

QF- PCR- Plan your safe pregnancy

QF-PCR (Quantitative Fluorescent Polymerase Chain Reaction) is a genetic testing method that is used to detect and quantify specific DNA sequences in a sample. It is a type of PCR (Polymerase Chain Reaction) that uses fluorescent dyes to label the amplified DNA, allowing for detection and quantification of the target DNA sequence.

QF-PCR is commonly used for a variety of genetic applications, including:

Prenatal testing for chromosomal abnormalities, such as Down syndrome or trisomy 18

Carrier testing for genetic disorders, such as cystic fibrosis or sickle cell anemia

Detection and quantification of viral DNA, such as in the case of HIV or hepatitis

Detection and quantification of bacterial DNA, such as in the case of tuberculosis

Detection and quantification of cancer-associated mutations in genes, such as in the case of BRCA1 and BRCA2 gene mutations.

QF-PCR (Quantitative Fluorescent Polymerase Chain Reaction) is a genetic testing method that is useful for a variety of couples depending on their specific situation.

– Couples who are at a higher risk of having a baby with a chromosomal abnormality, such as couples who are older, have a family history of chromosomal abnormalities, or have had abnormal results on prenatal screening tests, may benefit from QF-PCR as a prenatal testing option. It can be used to detect and quantify specific DNA sequences associated with chromosomal abnormalities, such as Down syndrome or trisomy 18.

– Couples who are at a higher risk of having a baby with a genetic disorder, such as couples who have a family history of a genetic disorder or are carriers of a genetic disorder, may benefit from QF-PCR as a carrier testing option. It can be used to detect and quantify specific DNA sequences associated with genetic disorders, such as cystic fibrosis or sickle cell anemia.

– Couples who have had recurrent miscarriages or recurrent implantation failure may benefit from QF-PCR as a way to detect chromosomal abnormalities or genetic disorders that may be associated with these conditions.

Post Pregnancy: Choose the best care for your little one

It is important to identify any health issues that may have arisen during pregnancy, as well as assess the overall health of the mother and baby after birth.

NewBorn Screening:

How is Newborn Screening performed?

When a baby is between 2-8 days old, a few drops of blood are collected from the baby’s heel. Blood collection on a filter paper by a heel prick is the standard procedure of screening newborns. This blood spot card is then sent to the laboratory for further processing.

The results of this Screening Test are Shared with your Pediatrician.

What disorders are Newborns Screened for?

Our Newborn Screening panel helps screen for seven most prevalent metabolic and genetic disorders. Early identification of these disorders can allow your doctor to start specialized medical treatment that may improve the long term health of your baby.

Newborn Screening Panel – A panel of 7 disorders

Congenital Hypothyroidism (CH): Defect in thyroid hormone production resulting in severe mental retardation and abnormal growth. Treatment typically involves daily dose of thyroid hormone (thyroxine).

Congenital Adrenal Hyperplasia (CAH): Defect in steroid hormone production, possibly resulting in serious illness or early death from loss of body minerals. Treatment typically involves hormone replacement.

Glucose – 6 – Phosphate Dehydrogenase (G6PD) Deficiency: Defect in ability to protect red blood cells. Results in anemia or jaundice. Treatment typically involves avoidance of certain common medications and foods.

Galactosemia: Defect in processing of simple sugar (Galactose), results in liver damage, brain damage and can turn fatal. Treatment typically involves immediate exclusion of dietary galactose.

Cystic Fibrosis: Disorder that affects the gastrointestinal tract and the respiratory tract, resulting in poor growth and frequent infections. Treatment typically involves pancreatic enzymes and antibiotics.

Biotinidase Deficiency: Defect in activation of the vitamin biotin, resulting in possible mental retardation or early death. Treatment typically involves vitamin supplementation.

Phenylketonuria: Defect in metabolism of amino acid phenylalanine, possibly results in developmental delays, brain damage and severe mental retardation. Treatment typically involves phenylalanine restricted food with proper dietary control.

Male infertility

Male infertility refers to the inability of a man to fertilize a woman’s egg. This can be caused by a variety of factors, including low sperm count, abnormal sperm shape or function, hormonal imbalances, genetic disorders, or exposure to certain toxins or infections. In some cases, the cause of male infertility is unknown. Diagnosis typically involves a physical examination, sperm analysis, and other tests as needed. Treatment options may include medication, surgery, lifestyle changes, or assisted reproductive technologies such as in vitro fertilization (IVF).

Microdeletion- Your dream of parenthood can be fulfilled with the right steps

A microdeletion is a small missing piece of genetic material in a chromosome. Microdeletions in certain regions of the Y chromosome, which is passed down from father to son, can cause male infertility. The most well-known microdeletion associated with male infertility is called a Y chromosome microdeletion, which can affect the ability of the testes to produce sperm.

Symptoms of a Y chromosome microdeletion can include low sperm count, abnormal sperm shape, and difficulty fathering a child. However, some men with a microdeletion may have no symptoms at all.

Diagnosis of a Y chromosome microdeletion typically involves a blood test to analyze the DNA in the man’s cells. Treatment options are limited, since the genetic material is missing and cannot be replaced. However, assisted reproductive technologies such as in vitro fertilization (IVF) with intracytoplasmic sperm injection (ICSI) can be used to fertilize an egg with a small number of sperm, which can increase the chances of pregnancy.

Preconception refers to the period before a woman becomes pregnant. It is a critical time for a woman to prepare her body and mind for pregnancy. It is important to talk to your healthcare provider about any medications and tests that are necessary to increase the chances of having a healthy pregnancy.

During IVF, Genetic testing stands as a viable option that can be discussed with a healthcare provider to help make informed decisions about the health of the potential child. If the parents have a family history of genetic disorders, genetic testing may be recommended to assess the risk of passing on these disorders to their child.

Genetic testing during pregnancy can be helpful during pregnancy to identify any potential risks or abnormalities in the developing fetus. You can mark your pregnancy safe with proper tests. It is important to discuss the potential risks and benefits of any genetic testing with a healthcare provider. A genetic counselor can guide on how to interpret the test results and the options available based on the results.

Post Pregnancy, genetic testing is recommended to confirm the health of the baby and to identify any genetic disorders that may have been missed during prenatal testing. Genetic testing can be done during post-pregnancy to check the health of the baby, identify any genetic disorders that may have been missed

during prenatal testing, and to plan for the future.