PGD in Cyprus – Pre-implantation Genetic Diagnosis (PGD)

PGD in Cyprus – Pre-implantation Genetic Diagnosis (PGD) 2016-10-13T08:42:01+00:00

The PGD in Cyprus can be used to screen more than 400 genetic diseases using the following parameters of diagnosis:

  1. Aneuploidy Screening
  2. Single Gene Disorder
  3. Chromosomal Translocation

The Team Miracle in North Cyprus IVF centre is among the industry leaders in the field of PGD in Cyprus. Moreover, Dr. Firdevs delivers one of the most successful gender selection program in the world allowing couples to decide on the gender of their next child before conception.

PGD in Cyprus – ANEUPLOIDY SCREENING

Aneuploidy is clinically defined as the abnormal number of chromosome sets within the cell nucleus causing birth defects in man. Our PGD in Cyprus program conducts routine aneuploidy screening in all transferred embryos to significantly reduce the chance of birth defects during pregnancy. Aneuploidy is also a common cause of miscarriage among pregnant women. The most common abnormalities seen in aneuploidy associated with miscarriages in pregnancy include: Abnormal sex chromosomes, Triploidy (having 3 copies of all the chromosomes), Trisomy (having 3 copies of a set of chromosomes), and Monosomy (having only one set of chromosome).

PGD in Cyprus – When do they perform PGD?

After the embryos are created using IVF in the laboratory, the fertilised embryos are incubated for three days. (Please refer to our IVF in Cyprus page for a more detailed information on IVF) On the third day, PGD biopsy is performed by removing one to two cells from the embryo as samples. Furthermore, the genetic materials from the nucleus of the cells are tested for the presence of any abnormalities. The complete PGD test results will now be available on the fifth day where Dr. Firdevs will then be discussing with you thoroughly the results of the PGD test and their implications. You will be guided accordingly on the selection process of the embryo by the Team Miracle Medical staffs before actual transfer to uterus for implantation.

PGD in Cyprus – How safe is PGD ?

The PGD in Cyprus is being done before the embryo’s genetic materials becomes “active”. Because PGD is done at the stage where the cells are completely identical where each cell has the potential of being any part of the infant, any cell biopsy on this stage is deemed safe. Therefore, the PGD in Cyprus procedure is completely safe and defect free.

PGD in Cyprus – How are the cells taken from the embryo?

PGD in Cyprus is done at the eight cells stage of development. The embryologist selects a normal looking embryo and samples one to two cells for testing. The selected embryo is placed in a very powerful microscope where a laser is beamed towards its outer membrane (zona pellucida) to create a tiny opening on the membrane. From the tiny opening, one or two cells will be aspirated for testing where the hole in the membrane closes automatically after the procedure; thereby, preventing additional cells from falling out.

It is imperative that one or both sampled cells must contain a nucleus because it is where the genetic materials needed for testing are being taken. In the advent that the cells sampled doesn’t contain any nucleus, or the nucleus spontaneously breaks open during preparation, the embryo shall therefore be declared “without any nucleus” or “anuclear”. The absence of the nucleus is not conclusive of a genetically unhealthy embryo, it will only mean that the sex and genetic health status of embryo was not assessed as expected.

In some occasions, the sampled cells may contain two nuclei. This irregularity may mean a genetic aberration in the embryo, or it may be otherwise normal in cases where the sampling was harested at the time of active cell division. Testing cells of this nature during PGD in Cyprus may prove to be a challenging feat for unseasoned embryologists.

PGD in Cyprus – How is the actual PGD done ?

The PGD in Cyprus testing is uniquely rapid compared to other genetic testing methodologies for it should be done within 48 hours from sampling. The testing of one and two cells in PGD makes use of a Fluorescence in-situ Hybridization (FISH) to facilitate its speedy analysis in time for the embryo transfer scheduled on the fifth day. In standard practice, all chromosome analysis takes several days to accomplish.

In the FISH technique, a small DNA probe is utilized with microscopy to recognize unique chromosomal patterns which usually lights up or fluoresce upon contact with the probe during the actual observation. The DNA probe shines light in various colours allowing multiple chromosomes to be tested simultaneously.

PGD in Cyprus – Which chromosomes are being tested ?

In the PGD in Cyprus process, Dr. Firdevs and the team makes use of a 5 probe FISH method that screens the five most important chromosomes which includes X, Y, 13, 18, and 21. Aberrations in either chromosomes will usually result in the most common genetic abnormalities observed in humans. Normal cells will present with 2 FSIH signals or fluorescence on each numbered chromosomes. In sex chromosomes, a double X signal for female, and an X and a Y signal for a male. This particular FISH methods can fluoresce 5 chromosomes at a time, after the probes are washed off the next 5 chromosomes are then elucidated by the DNA probes. The repeated washing and testing will enable the 5 probe FISH method to test the rest of the DNA sequence. However, the probe washing process can affect the integrity of the chromosomes tested and the accuracy of the test results as a whole. For this reason, only the five most important chromosomes are the only once being tested for accuracy purposes.

PGD in Cyprus – Which genetic disorders can PGD in Cyprus detect ?

The PGD in Cyprus can accurately diagnose the sex of the tested embryo. In the same way, it can also detect many genetic disorders before it fully develops into a fetus. The following genetic disorders are among the many possible diagnoses that could be detected in the PGD in Cyprus:

Adrenoleukodystrophy (ALD)
Alport’s syndrome
Amyotrophic Lateral Sclerosis (ALS)
Becker Muscular Dystrophy
Beta-Thalassemia
Bruton’s Agammaglobulinemia
Centronuclear Myopathy
Cerebellar Ataxia
Coffin Lowry syndrome
Colour blindness
Complete and Partial androgen insensitivity syndrome (CAIS and PAIS)
Hirshsprung’s disease
Congenital Cystic Fibrosis
Congenital Hydrocephalus
Down syndrome
Duchenne-Muscular Dystrophy
Fabry’s disease
Factor 9 Deficiency
Factor 8 Deficiency
Fragile X Syndrome
Friedrich’s Ataxia
Gardener Syndrome
Glucose-6-phosphate dehydrogenase deficiency (G6PD)
Glycogen Storage Disease
Happle Syndrome
Haemophilia A and B
Hunter’s syndrome
Huntington’s Chorea
Hypohidrotic Ectodermal Dysplasia
Idiopathic Hypoparathyroidism
Diabetes Insipidus (DI)
Kennedy disease
XXY (Klinefelter’s Syndrome)
Lesch-Nyhan syndrome (LNS)
Lowe Syndrome
Marfan syndrome
Menkes disease
Nasodigitoacoustic syndrome
Nonsyndromic deafness and X-linked nonsyndromic deafness
Norrie disease
Occipital horn syndrome
Prostate Cancer
Retinitis Pigmentosa
Rett syndrome
Sickle Cell Anaemia
Siderius X-linked mental retardation syndrome
Simpson-Golabi-Behmel syndrome
Tay-Sachs Disease
Turner syndrome
von Willebrand Disease
Wiskott-Aldrich syndrome
Agammaglobulinemia
Hypophosphatemia
Severe Combined Immunodeficiency (SCID)
Sideroblastic anaemia

PGD in Cyprus – Which embryos are chosen for transfer?

During the PGD in Cyprus procedures, any normal looking test embryo may be a candidate for transfer. Some embryo samples appearing to be normal upon genetic examination may physically present abnormally which may fragment spontaneously upon close observations. In the same way, embryos that may physically appear normal can still be defective genetically. Because of these innate variations in embryo testing, the PGD in Cyprus criteria necessitates embryos to be both normal physically and genetically for it to be qualified for uterine transfer. We are increasing the chance of a successful pregnancy if we follow this protocols in embryo selection.

The comprehensive results of the PGD in Cyprus will be explained to you by Dr. Firdevs. She will inform you on how many embryos will be transferred. On the average, three to four blastocysts are selected for an optimal chance of success. Rest assured all major decisions are always left to your discretion after an informed guidance.

PGD in Cyprus – What happens to the embryos that are not chosen?

Embryos which are not selected for uterine transfer are cryogenically stored for future use in up to 2 years viability. For more informations on our cryopreservation, please refer to this page: http://northcyprussivfcentre.com/cryopreservation-in-cyprus/.

PGD in Cyprus – Can PGD be used in the diagnosis of single gene disorders ?

PGD in Cyprus is basically used in our IVF centre to determine gender selection and diagnose genetic diseases inherent to the embryo that is being tested. As a matter of fact, the same PGD methodology can be implored to help prevent couples with serious inheritable diseases to pass it on to their offspring.

Conventionally, the only way to diagnose genetic diseases from the foetus is by means of genetic analysis of aspirated amniotic fluid from amniocentesis. This diagnostic procedure is being done at the latter stage of pregnancy. A positive and confirmatory genetic diagnosis from amniocentesis will result into either choices: Allowing the infant to fully develop and try to live with the inherited abnormality, or terminating the pregnancy through optional abortion. Both scenarios usually prove to be very difficult and traumatic for the couples especially when it is done during the later stages of pregnancy.

PGD in Cyprus in this way can now be rendered as an alternative pre-natal diagnostic tool among expectant couples. The procedure empowers the couples to make early choices before implantation and eliminate the worrying part whether the genetic defect was really transmitted to the offspring or not especially in known single gene disorders. In cases where an embryo is detected to carry the disorder trait, the other sets of embryo will still be examined carefully for the selection of the normal or unaffected embryos to be transferred.

PGD in Cyprus – What is the actual process in PGD ?

In order to perform the PGD in Cyprus procedures on embryos, all couple clients must submit to an in vitro fertilisation to Dr.Firdevs and her team regardless of fertility status. The prospective mother will be hormonally induced to produce eggs for collection. The father must also be sampled with sperms for the IVF process that will result into an embryo upon its union. After three days in the incubator, the embryos would eventually develop into its eight cell stage (morula). Routine cell biopsy testing on these cells shall be performed to determine whether they are normal and healthy. A normal finding in the sampled cells will essentially infer that the source embryo is healthy and would ultimately give rise to healthy babies.
PGD in Cyprus – Can gender selection and single gene testing be performed on the same cell sample?

The PGD in Cyprus process necessitates the destruction of the sampled cells because of the DNA sample extraction process that involves the dissolution of the cell membrane. For this very reason, other DNA procedures could no longer be performed with absolute accuracy and certainty.

PGD in Cyprus – What are preparatory procedures done in PGD ?

There is a huge variety of genetic diseases that can effectively be analyzed using the PGD in Cyprus procedures. Our IVF centre’s Team Miracle customizes their own DNA probes that are used during testing. Each probe set are individually customized per couple at our IVF centre. Because of these inherent expertise, the North Cyprus IVF centre is internationally acclaimed for our ability to detect the rarest of genetic disorders known to man.

In the beginning of the procedure, Dr. Firdevs gathers blood samples from both parents for mutation verification testing, and the active priming of the polymorphic markers used in each assay. For confirmatory purposes, the IVF centre may require blood samples and cheek swabs from other blood relatives and siblings. The genetic professor of team miracle will validate the diagnostic single cell PCR protocol after performing extensive pre-clinical trials on sample lymphocytes or cheek cell samples. This will aid in the evaluation of the single cell amplification efficiency, and the ADO rates of each primer that shall be utilized in the PGD in Cyprus procedure.

In most common single gene disorders, genetic professors can perform the probe creation with validation within a period of two weeks. For genetic diseases with variable mutations, the preparation phase may last for at least 4 to 6 weeks. Patient coordinators will update you on the timelines of the procedure as we go through the whole process to keep you abreast with the developments.

PGD in Cyprus – What happens during the actual genetic analysis ?

As soon as the customized DNA probes are created, Dr. Firdevs simultaneously performs the IVF process. The embryo will then be biopsied using the polymerase chain reaction (PCR) to reproduce the process of DNA replication in vitro. Moreover, PCR can allow for the enrichment of a DNA sample for a certain given sequence for testing.

The PCR process may be used to replicate DNA to a significant quantity with multiple copies of genome for future analysis. The PCR is inherently very sensitive and specific at the same time, making it the most ideal tool for the PGD in Cyprus procedure. Gene amplification can make it possible for our geneticists to perform multiple gene screening procedures for diagnoses.

PGD in Cyprus – What happens during the diagnosis ?

The Team miracle of geneticists and embryologists will advise Dr. Firdevs which embryos were affected and unaffected. The occurrence of a single allele may indicate an affected genotype. Embryos that are eligible for transfer essentially has a complete unaffected genotype during the analysis.

PGD in Cyprus – Can PGD be used in Chromosome translocation ?

All the cells in the body are controlled by long thin strands of Deoxyribonucleic acid (DNA) which are found in the nucleus of the cell. The DNA exerts its control by delivering at least 30,000 genetic instructions needed for the growth and development of each cell of the body. The normal DNA contains 46 strands called chromosomes arranged in 23 pairs. By convention the chromosomes are numbered 1 to 22 according to their size, with chromosome 1 being the longest and the 22nd being the shortest. The 23rd pair is referred to as the sex chromosomes that determines our gender. Each chromosome contain a short and a long arm which is separated by a narrow area in the center. It will only take a small amount of blood or cheek cells for one to study a person’s chromosomes under microscopy.

PGD in Cyprus – How do we inherit our chromosomes?

During spermatogenesis (sperm formation) and oogenesis (egg formation), one of the pair of DNA strands goes to each sperm or egg. Consequently, eggs and sperms will only contain 23 chromosomes each. All egg cells contain an X sex chromosome while sperms may carry either an X or a Y sex chromosome. During the union of both cells in fertilisation, the resulting embryo will contain 46 chromosomes containing half of the chromosomes from the mother and the other half from the father. For normal foetal development, the correct number of chromosomes must be present. On occasions, mistakes may happen in the number of chromosomes like missing or excess number resulting to common genetic aberrations like Down syndrome (3 chromosome in the 21st).

PGD in Cyprus – What is chromosome translocation?

Chromosomal translocation means that a fragmented part of chromosome pairs with another chromosome. Translocation between chromosomes that does not result in the loss of genetic material (chromosome fragment) is known as balanced translocation. Balanced translocation may be phenotypically normal because it is only a defect in rearrangement; thus, results in a normal foetus. Balanced translocation are notably common occurring in 1 out of 625 births. In general, chromosomal translocation could not be repaired.

The definitive implication on the outcome of chromosomal translocation is the offspring may pose with an extra or a missing genetic material which results in congenital anomalies among infants. In a given example, the father has a balanced chromosomal translocation on two pairs of chromosomes (number 3 and 7) while the mother possesses a normal set of chromosomes. There will be different possibilities as shown in this illustration:

The offspring can inherit:

A. None of the chromosome from the father that were involved in the balanced translocation resulting into a perfectly healthy baby.
B. Both paternal chromosomes that were involved in the balanced translocation resulting into a normal baby but may pose as a carrier of the same balanced translocation similar to the paternal origin.
C. One paternal chromosome from the balanced translocation, and normal maternal chromosomes. This will result in unbalanced translocation where the unmatched pair results into missing or excess genetic materials. This genotype may express physical or mental disabilities in the offspring. Large missing portions of genetic material in the part of the unbalanced translocation would most likely conclude in a miscarriage.

PGD in Cyprus – What can we do to help you ?

The couples who decided to have the PGD in Cyprus will undergo the IVF. A genetic analysis will then be done on the sampled cells from the embryo before uterine transfer. Biopsy is performed on the third day of development where the embryo has reached the eight cell stage. The biopsied cells are exposed to the FISH procedures that matches the different fragments of the DNA for fluorescein analysis. For cases with IVF and PGD translocation, the embryos will first be tested with for unbalanced genetic translocations. A second test on determining defect in chromosomes X, Y, 13, 18, and 21 will also be done using the FISH modality. Tested cells for FISH methods can no longer be used for other purposes for sampled cells may be destroyed in the process.

PGD in Cyprus – How are aneuploidy detected ?

The cells sampled from the embryo are affixed in a microscope slide while the cellular portion are digested using special enzymes leaving the nucleus behind which contains the DNA materials. The introduction of specific DNA probes will facilitate the attachment of the specific DNA segments to the pre-marked probes where it fluoresces during the hybridization process. The excess probes are washed off using special solutions and the remaining materials are examined under a fluorescent high powered microscopy. The actual count of the number of chromosomes of each type of colour can now ensue within the cell. Geneticists in our IVF centre can now distinguish chromosome numbers easily and determine whether they are normal or aneuploidy.