Op.Dr. Nurettin Türktekin
NGS (Next Generation Screening)

NGS (Next Generation Screening)

What is Chromosome Screening (NGS-New Generation Sequencing)?

Chromosome screening is an important medical method that is considered a sub-branch of genetic analysis and has developed under the influence of modern biotechnology.

It plays a major role, especially in the fields of prenatal diagnosis, clinical genetics, and reproductive medicine. It is possible to say that the NGS method is a molecular biology technology that has laid the foundation for chromosome screening. NGS is very important for couples to have information about whether they will have a healthy baby. 

This technology, called NGS or Next Generation Sequencing, is used to analyze DNA and RNA sequences with high efficiency and on a large scale. This offers a faster, more precise, and more cost-effective way to sequence genetic material than traditional methods. The most widely used area of the NGS technique is genetic research and medical diagnostics.

Chromosome screening helps to identify genetic disorders by examining the genetic structure of individuals. It is especially used in the prenatal period for the detection of healthy embryos in the womb. Chromosome screening is important in terms of detecting conditions such as Down syndrome, which will occur due to chromosome number. The NGS method has also contributed to the development of big data analysis and bioinformatics methods. The results help healthcare professionals, patients, and parents to make accurate diagnoses and optimize treatment plans.

What is NGS Testing?

NGS Next Generation Sequencing is a molecular biology technique used to determine the sequence of genetic material (DNA and RNA). This test is an important part of genetic science and medicine and is used in many different application areas.

NGS offers a faster, more efficient, and cost-effective option to traditional Sanger sequencing methods. This technique is ideal for analyzing complex genomes or transcriptomes containing large amounts of DNA or RNA samples. NGS is used in many fields, from genetic research and disease diagnosis to cancer genetics and microbiome analysis.

Especially in medical applications, NGS is of great importance in determining the genetic profiles of patients, diagnosing genetic diseases, detecting mutations in cancer patients, and understanding drug responses for pharmacogenomic studies and personalized medicine.

NGS testing works in high parallelism, sequencing thousands of fragments of DNA or RNA simultaneously. This leads to the generation of big data, which must be decoded by bioinformatics analyses. The results provide essential information for genetic analysis and diagnostics.

How is chromosome screening performed?

Chromosome screening is performed to examine the chromosomes of the fetus in the womb and to detect possible genetic abnormalities. It is usually used in the prenatal period and is performed using a sample of the expectant mother's blood or invasive methods using a sample of the fetus. Comprehensive chromosome screening goes beyond traditional chromosome screening methods and aims to analyze more genetic information. This screening is usually performed using high-throughput technologies such as Next Generation Sequencing (NGS) and is capable of detecting more chromosomal abnormalities. This is why comprehensive chromosomal screening is so important.

Chromosome screening is important for a healthy pregnancy. It helps the expectant mother to detect fetal chromosomal abnormalities early in pregnancy. Early diagnosis allows potential risks to be identified and, if necessary, treatment or other interventions to be planned. Thus, chromosome screening is of great importance as an important tool for the initiation and maintenance of a healthy pregnancy.

What is Preimplantation Genetic Screening?

Preimplantation Genetic Screening is a method of genetic analysis of embryos during IVF treatments. In this procedure, the genetic structure of the embryo in question is analyzed and the possibility of detecting unwanted chromosomal abnormalities or single gene diseases is provided. Modern techniques known as sequencing are used to genetically analyze embryos and thus help to select healthy embryos. PGD is an important step towards achieving a healthy pregnancy by increasing the success rate of IVF treatments.

What is Embryo Genetic Test Ngs?

Embryo Genetic Test NGS is a molecular genetic method used during IVF treatments. With NGS, embryos undergo genetic analysis. NGS is a high-throughput technology used to analyze the DNA of embryos. This examination is performed to identify chromosomal abnormalities and single-gene disorders in embryos.

During in vitro fertilization treatments, genetic testing (NGS) is performed before embryo transfer to select a healthy embryo from among the embryos. This test assesses the genetic health of embryos created by IVF treatment. The genetic analysis of the embryos is performed by the NGS method, which allows healthy embryos to be transferred. This is an important step towards achieving a healthy pregnancy by increasing the chance of pregnancy.

Next Generation Sequencing What is Next Generation Sequencing?

Next Generation Sequencing Next Generation Sequencing is a powerful molecular biology technique used to obtain genetic information quickly and efficiently. During IVF treatments, genetic analysis of the embryo obtained using the NGS method is performed. This analysis aims to detect chromosomal abnormalities and single-gene disorders in embryos. NGS stands out as a technology that can sequence millions of short DNA fragments simultaneously, allowing the genetic structure of embryos to be analyzed quickly and in detail. 

NGS is a genetic analysis technology of great importance for mothers, fathers, and babies. For the mother and father, this helps them to determine the risk of carrying genetic diseases. Next Generation Sequencing is among the procedures that can be performed with experienced doctors such as Op. Dr Nurettin Türktekin. You can seek detailed information about this genetic analysis by visiting our clinic or contacting us via communication channels.



Ovarian cysts are fluid-filled sacs or vesicles seen inside the ovary. Normally, during each menstrual period, a cyst called a follicle, which carries the egg cell and can reach 3 cm in size, forms in the ovaries. Then this cyst cracks and the egg is released. In young girls with ovulation problems, normal or physiological follicle cysts that cannot rupture can grow every month and reach 5-10 cm, while small numbers of 0.5-1 cm in size, which we call polycystic ovaries, can be seen in series. Apart from these functional cysts, benign or malignant ovarian cysts can also be seen in all age groups.

Except for the most common functional ovarian cysts, cysts can be benign or malignant tumoral cysts. In addition, as a result of infection, abscess-shaped cysts may occur, which is usually accompanied by pain and high fever.


The main symptoms of chromosomal disorders during pregnancy are as follows:

  • -          Slower or incomplete physical development of the baby in the womb than normal
  • -          High levels of hCG and AFP in the mother
  • -          Abnormal ultrasound results
  • -          Facial and body anomalies in the baby

Chromosome testing during pregnancy is performed with samples taken from the mother. One of the most common methods is to use a sample of the expectant mother's blood. The fetal DNA in the mother's blood carries the baby's genetic information and can be used for chromosome analysis. There are also more invasive methods, such as amniocentesis or chorionic villus sampling, in which samples are taken from the tissue of the baby in the womb. These samples are sent to a laboratory for genetic testing and the results provide important information about the health of the baby's chromosomes.

Chromosome abnormalities in embryos are caused by faulty cellular processes in which genetic material cannot be divided or copied normally. These errors can be caused by genetic factors, usually from the mother's or father's side. Advancing maternal or paternal age, especially if the mother becomes pregnant after the age of 35, can increase the risk of chromosomal abnormalities. In addition, the factors that lead to chromosomal abnormalities in the embryo are not limited to age, but can also be influenced by various external factors, such as environmental factors, radiation exposure, or exposure to toxins.

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