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PGD & PGS (preimplaNtation genetic diagnosis & Screening)

SCI began providing preimplantation genetic testing services for IVF clinics and Genetico® center clients* from 2013.

They include: 

  • PGD consultation;
  • PGS: preimplantion genetic screening of early-stage embryos for chromosomal aberrations during an IVF cycle;
  • PGD: preimplantation genetic diagnosis of early-stage embryos for monogenic inherited diseases during an IVF cycle.

The PGD/PGS laboratory operates at HSCI’s new laboratory and production complex opened in 2013 Moscow, and today is №1 in Russia by the number of patients. 

HSCI’s PGD laboratory was created in cooperation with a pioneer and world leader in this field – the Reproductive Genetics Institute (Chicago, USA).

Preimplantation Genetic Diagnosis and Screening entails testing of developing embryos for monogenic inherited diseases and chromosome abnormalities during an in vitro fertilization (IVF) cycle:

  • when there is a risk of giving birth to a child with a serious inherited disease;
  • in the case when there is a high risk of a chromosome abnormality which could lead to the death of the embryo or birth of a child with a pathology (e.g. Down Syndrome)- highly recommended for women over 35 years of age or those who have experienced recurrent miscarriages  to improve IVF success;
  • when it is vital to ensure that the future child will be a suitable donor of hematopoietic stem cells for the treatment of an older brother or sister suffering from an inherited disease (the selection of an embryo which is free of the disease-inducing mutation and also a compatible match /HLA-matched/ for the sick sibling).

PGD/PGS, allows specialists to determine which embryos can be recommended for transplantation into the uterus.

PGD Consultation

PGD consulting entails the planning and organization of all stages of PGD/PGS (from consultations with the couple and determination of the appropriateness and risks involved in PGD, to the delivery of the results of the genetic testing to the fertility doctor). The participation of a personal PGD consultant – the person who acts as a critical link between the family and all the other specialists engaged in the process of preparing and carrying out the preimplantation genetic diagnosis – is an important factor in the success of the entire process.

PGS: Preimplantation Genetic Screening for chromosome abnormalities

PGS for chromosome abnormalities is an effective method for lowering the risk of spontaneous miscarriages, the birth of a child with chromosomal abberations (for example, Down syndrome), as well as for the purpose of reducing the number of unsuccessful IVF cycles.

HSCI’s genetic laboratory has the capacity to analyze chromosomal aberrations across 46 chromosomes – the full chromosome set for one cell – using the cutting-edge technology aCGH – microarray-based comparative genomic hybridization. This technology makes it possible to identify an abnormality in the number of chromosomes as well as detect major chromosome structural rearrangements in an oocyte or the cells of the embryo.

PGS for chromosome abnormalities is recommended in the following situations:

    • advanced maternal age (35 years old or more);
    • previous repeated miscarriages;
    • multiple unsuccessful IVF attempts;
    • in the case of certain types of male infertility related to chromosome anomalies;
    • parent with carrier status of chromosome rearrangements, translocation, inversion and other chromosome pathologies.

PGD: Preimplantation Genetic Diagnosis of Monogenic Diseases

PGD allows for the effective prevention of the passing of monogenic diseases to the next generation

A family which knows about the risk of giving birth to a child with a genetic disorder (through screening for carrier status or the existence of a family member with the disease) thanks to PGD has the opportunity to give birth to a healthy baby.

Approximately one-half of incidents with inherited diseases emerge from situations when the mother and father do not suffer from symptoms of the disease but are unknown carriers of the damaged genes. When a child inherits damaged genes from each parent, the development of the disease is inevitable. Thus, in the case that carrier status for inherited diseases is discovered among the future parents (see Genetic Testing and Counseling), it is recommended that IVF with PGD be employed, i.e., in vitro fertilization under strict genetic control.

The array of methods used at HSCI’s genetic laboratory allows for PGD to be carried out for the majority of known monogenic inherited diseases, which include cystic fibrosis, phenylketonuria (PKU), congenital hearing loss, congenital myopathies and others.

PGD allows for treatment of a sick sibling

For more than 15 years in the United States and European countries PGD has been carried out with the aim of the subsequent treatment of a sick sibling: in the case where a family has a sick child who can be treated through the transplantation of bone marrow but no suitable donor has been found. In such instances, PGD makes it possible to select an embryo that is not only free of the genetic mutation causing the disease but also which is an appropriate donor match for the sick child.

Hematopoietic stem cells for transplantation into an older child are extracted noninvasively – from the umbilical cord blood collected during the birth of the younger brother or sister.

The genetic laboratory of HSCI is one of a select few in the world where preimplantation HLA typing is carried out. This process involves the analysis of the human leukocyte antigen (HLA) system of embryos for compatibility.

The technology combining PGD, IVF, and transplantation of hematopoietic cord blood stem cells was firstly applied in 2000. Using the Preimplantation Genetic Diagnosis during an in vitro fertilization cycle a pioneer baby, Adam Nash, was born to save the life of his older sister Molly who had an inherited disease – Fanconi Anaemia.

For the first time in Russia, this method of giving birth to a healthy sibling to become a donor of HSCs for an older sick child was implemented by HSCI.

The patient was a girl with Shwachman-Diamond syndrome. Using PGD, HSCI’s specialists helped the family give birth to a healthy boy (in 2014) – it was chosen for implantation the embryo who was not only free of the genetic mutation causing the disease of his older sister, but also 100% HLA-matched with her. Therefore, on the one hand, HSCI helped the family to get a healthy child; while on the other hand, fully compatible hematopoietic cord blood stem cells were collected at his birth to be used by hematologists for treating the elder child: the successful transplantation was made in 2016. For details see: Bone Marrow Transplantation advance online publication 27 March 2017; doi: 10.1038/bmt.2017.46 (First experience of hematopoietic stem cell transplantation treatment of Shwachman–Diamond syndrome using unaffected HLA–matched sibling donor produced through preimplantation HLA typing).

HSCI is seeking to use this technology more widely and help the families who already have sick children. It is applicable to a wide range of oncological diseases, anemia, immunodeficiency, serious inherited and other diseases.

PGD to prevent Rhesus incompatibility

If the mother is Rh negative and there exists a risk of that the future child could be Rh positive, then PGD can be used to ensure that the embryo’s Rh coincides with the mother’s. This makes it possible to avoid Rhesus incompatibility and the serious pregnancy complications which this can cause.

* The services are provided by GENETICO LLC (Center of Genetics and Reproductive Medicine GENETICO LLC) — a subsidiary of Human Stem Cells Institute PJSC.