Preimplantation Genetic Diagnosis (PGD)

PGD (Preimplantation Genetic Diagnosis) is an Assisted Reproduction technique which allows us to study the genetic material of embryos before implantation and select the healthiest embryos in order to ensure that no chromosome and/or genetic abnormalities are transferred to the uterus.

Who is it recommended for?

The primary goal of this technique is to avoid passing genetic disorders on to offspring. This technique is for patients who have a family history of genetic disorders or who have suffered recurrent pregnancy loss or implantation failure without a justified cause.

It is also recommended for women over the age of 38 since the probability of chromosome abnormalities in offspring increases with age

Preimplantation Genetic Diagnosis is especially recommended for patients with a family history of genetic disorders or chromosome abnormalities

Types of Preimplantation Genetic Diagnosis

PGD-A or aneuploidy screening

Preimplantation genetic diagnosis technique used to detect chromosomal gains and losses in embryos (for example, Down Syndrome, also known as trisomy 21, caused by the presence of a third copy of chromosome 21).

PGD-SR

Preimplantation genetic diagnosis technique used to detect structural abnormalities in chromosomes (i.e. breakage) which can lead to disorders.

PGD-M or monogenic disease screening

Used to detect DNA sequence alterations in a gene. Genetic disorders such as Cystic Fibrosis can be detected using this technique. The existence of a previous child with a disorder or knowledge that both parents carry the same disorder and risk passing it on to their children are common reasons for these tests to be performed.

PGD allows the embryologist to detect and discard embryos with altered chromosomes that wouldn’t implant well or which would cause an abortion, thus avoiding many unsuccessful transfers.

By only transferring embryos with normal chromosomes which have been selected during an IVF-PGD cycle, these have a higher probability of implantation and being carried to term and also increase the chances of conceiving a healthy child.

What will your IVF treatment with PGD be like?

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Which diseases can be prevented with PGD?

PGD is developed to diagnose more than 300 diseases.
Get to know some of them:

Numerical alterations

Monosomies

When the person has one less chromosome. The most prominent case is Turner syndrome, in which the woman only has one sex chromosome X (karyotype 45, X0).

Trisomies

When the person has an extra chromosome. The most frequent diseases are the following: Down syndrome (three chromosomes 21), Patau syndrome (three chromosomes 13), Edwards syndrome (three chromosomes 18), Klinefelter syndrome (karyotype 47, XXY).

Autosomal dominant

Achondroplasia, Spinocerebellar Ataxia SCA1 and SCA3, Charcot-Marie-Tooth, Facioscapulohumeral dystrophy, Myotonic dystrophy (Steinert’s disease), Albers-Schönberg disease, Tuberous sclerosis Type 1, Tuberous sclerosis Type 2, Hereditary multiple exostoses, Huntington’s disease, Multiple endocrine neoplasia 1 and 2, Neurofibromatosis types 1 and 2, Osteogenesis or osteogenesis imperfecta, Familial spastic paraparesis, Polycystic kidney disease, AD. Linked to PKD1, Polycystic kidney disease, AD. Linked to PKD2, Familial adenomatous polyposis, Retinitis pigmentosa, Lynch syndrome: hereditary non-polyposic colon cancer, Marfan syndrome, Noonan syndrome, Von Hippel-Lindau disease.

Autosomal recessive

Glutaric aciduria type 1, Propionic acidemia A, Propionic acidemia B, Fanconi anemia, Friedreich’s ataxia, Spinal muscular atrophy (SMA), α-Thalassemia, β-Thalassemia, Glycosylation Defect (CDG1A), 21-hydroxylase deficiency, L-CHAD deficiency, Clouston’s hidrotic ectodermal dysplasia, Gaucher disease, Cystic fibrosis (CF), Gangliosidosis, Severe combined immunodeficiency, Allymphocytic, Haemophagocytic lymphohistiocytosis, Mucopolysaccharidosis IIIA (Sanfilippo A), Malignant infantile osteopetrosis, Polycystic kidney disease (ARPKD), Non-syndromic sensorineural congenital deafness, Tyrosinemia type 1.

X-linked

Dominant

Pigmentary incontinence, Hypophosphatemic rickets, Fabry disease.

Recessive

Adrenoleukodystrophy, Ornithine transcarbamylase deficiency, Duchenne and Becker muscular dystrophy, Norrie disease, Haemophilia, Myotubular myopathy, Mucopolysaccharidosis I (Hurler syndrome), Mucopolysaccharidosis II (Hunter syndrome), Alport syndrome, Fragile X syndrome, Lesch Nyhan syndrome.

Embryo transfer with PGD has an 80-90% higher possibility of implantation than without PGD.

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