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Modern Genetics and NGS

Modern Genetics

With the development of new technologies for more accurate understanding of the genome and potential gene therapies, the detection of mutations has an increasingly central role in various areas of genetic diagnosis including preimplantation genetic diagnosis (PGD), prenatal diagnosis (PND), etс.

Molecular and cytogenetic techniques are applied to identify genetic mutations leading to diseases. Accurate diagnosis of diseases is essential for appropriate treatment of patients, genetic counseling and prevention strategies.

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Modern Genetics

Karyotyping, PCR and FISH


Karyotyping

Chromosome studies are advised in the following situations: suspected chromosome abnormality, multiple congenital anomalies and/or developmental retardation, infertility or multiple miscarriage, stillbirth etc.

Polymerase chain reaction (PCR)

PCR is a method widely used in molecular biology to make many copies of a specific DNA segment. Due to PCR prospective parents can be tested for being genetic carriers, or their children might be tested for actually being affected by a disease.

DNA samples for prenatal testing can be obtained by amniocentesis, chorionic villus sampling, or even by the analysis of rare fetal cells circulating in the mother's bloodstream. PCR analysis is also essential to preimplantation genetic diagnosis, where individual cells of a developing embryo are tested for mutations.
Fluorescence in situ hybridization (FISH)

FISH is applied to provide specific localization of genes on chromosomes. Rapid diagnosis of trisomies and microdeletions is acquired using specific probes.

Usually a denatured probe is added to a metaphase chromosome spread and incubated overnight to allow sequence-specific hybridization. After washing off the unbound probe, the bound probe is visualized by its fluorescence under UV light; thus, the site of the gene of interest is observed as in situ.

This technique is used to check the cause of trisomies, microdeletion syndromes, etc.

Modern Genetics

Karyotyping, PCR and FISH


Karyotyping

Chromosome studies are advised in the following situations: suspected chromosome abnormality, multiple congenital anomalies and/or developmental retardation, infertility or multiple miscarriage, stillbirth etc.

Polymerase chain reaction (PCR)

PCR is a method widely used in molecular biology to make many copies of a specific DNA segment. Due to PCR prospective parents can be tested for being genetic carriers, or their children might be tested for actually being affected by a disease.

DNA samples for prenatal testing can be obtained by amniocentesis, chorionic villus sampling, or even by the analysis of rare fetal cells circulating in the mother's bloodstream. PCR analysis is also essential to preimplantation genetic diagnosis, where individual cells of a developing embryo are tested for mutations.
Fluorescence in situ hybridization (FISH)

FISH is applied to provide specific localization of genes on chromosomes. Rapid diagnosis of trisomies and microdeletions is acquired using specific probes.

Usually a denatured probe is added to a metaphase chromosome spread and incubated overnight to allow sequence-specific hybridization. After washing off the unbound probe, the bound probe is visualized by its fluorescence under UV light; thus, the site of the gene of interest is observed as in situ.

This technique is used to check the cause of trisomies, microdeletion syndromes, etc.

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IVMED Fertility Centre and IVMED Family IVF&surrogacy agency have provided you with everything you need in the MATERNAL SPINDLE TRANSFER PROGRAM. You don't need to worry about donor's DNA, maternal spindle transfer allows to preserve your genetic material. So you can focus on the main steps that will bring you closer to the long-awaited goal of becoming parents. Take the first step today!

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aCGH and NGS


Array CGH is applied for detecting all genomic imbalances. The basics of technique is comparison of total genomic DNA of the given sample DNA with total genomic DNA of normal cells.

Typically, an identical amount of both given sample and normal DNAs is labeled with two different fluorescent dyes; the mixture is added and hybridized to a normal lymphocyte metaphase slide.

A fluorescent microscope equipped with a CCD camera and an image analysis system are used for evaluation. Copy number of genetic material (gains and losses) is calculated by evaluation software.
In recent years, newer technologies for DNA sequencing in a massive scale have been emerged that are referred to as next-generation sequencing (NGS).

NGS systems provide several sequencing approaches including whole-genome sequencing, whole exome sequencing, transcriptome sequencing, methylome, etc.

Sequencing of the complete coding regions, therefore, could potentially uncover the mutations causing rare, mostly monogenic, genetic disorders as well as predisposing variants in common diseases and cancer.

NGS can complement aCGH data by providing additional information on single nucleotide level sequence variations, and chromosomal abnormalities such as balanced translocations.

aCGH and NGS


Array CGH is applied for detecting all genomic imbalances. The basics of technique is comparison of total genomic DNA of the given sample DNA with total genomic DNA of normal cells.

Typically, an identical amount of both given sample and normal DNAs is labeled with two different fluorescent dyes; the mixture is added and hybridized to a normal lymphocyte metaphase slide.

A fluorescent microscope equipped with a CCD camera and an image analysis system are used for evaluation. Copy number of genetic material (gains and losses) is calculated by evaluation software.
In recent years, newer technologies for DNA sequencing in a massive scale have been emerged that are referred to as next-generation sequencing (NGS).

NGS systems provide several sequencing approaches including whole-genome sequencing, whole exome sequencing, transcriptome sequencing, methylome, etc.

Sequencing of the complete coding regions, therefore, could potentially uncover the mutations causing rare, mostly monogenic, genetic disorders as well as predisposing variants in common diseases and cancer.

NGS can complement aCGH data by providing additional information on single nucleotide level sequence variations, and chromosomal abnormalities such as balanced translocations.

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Frequently asked questions

1How can I choose a donor of oocytes?
In order to choose a suitable donor, you should leave a request on our website. Our coordinator will contact you to clarify the parameters of the donor that you are interested in (race, hair color, eye color, body composition, etc.). After that, our specialist will select the candidates who may be suitable for you according to the specified parameters, and send you donor profiles for review, among which you can choose your donor.
2Is it possible to carry out the preparation for embryo transfer at home, without coming to Kyiv?
Yes, you can undergo the medical preparation for embryo transfer in your country, periodically visiting the doctor who will provide you with ultrasound diagnostics. It’s not necessary to come to Kyiv for this.
3How many days will you need to spend in Kyiv during the program?
In order to participate in the donation program with frozen oocytes, it is enough for you and your partner to stay in Kyiv from 1 to 5 days. We will take care of your comfortable stay and provide complete information support.
4 Are pregnancy support medications included in this program?
Pregnancy support medications are already included in this program. You do not have to buy any additional medicines.
5 Can the genetic testing of the embryos be done in this program?
You can use the service of preimplantation genetic testing of embryos for additional fee, since PGT is not included in the program.
6 Will the donor ever learn that she was a donor to us?
The clinic carefully observes the law of Ukraine on the anonymity of donation and will keep the confidentiality of both parties (both the oocyte donor and the couple undergoing treatment).

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