07:37pm Thursday 20 February 2020

Method for foetal DNA analysis revealing why there are recurrent abortions

The new service involves high quality genetic analysis for couples with recurrent gestational losses or infertility, enhancing the diagnosis in up to 35 % more cases.

Genetadi has developed two gynaecological panels that enable the gynaecologist to have fuller, wider-ranging and more detailed genetic information at hand than is currently available. The results enable focusing on the reproductive process in a more precise manner.

Recurrent gestational losses

To explain the new integrated genetic diagnosis service for gynaecology, Doctor José Luis Castrillo, researcher at the Consejo Superior de Investigaciones Científicas (CSIC) and Co-Director of Genetadi Biotech, pointed out that, as regards recurrent gestational losses (two or more miscarriages with no established cause), “we genetically analysed the foetal tissue in order to identify the alteration explaining these losses, comparing this with that of their parents”. DNA molecular analysis of both biological parents “identifies DNA regions lost or gained (deletions or duplications) associated with gestational loss”, he explained.

Infertility of parents

Many of the causes of masculine or feminine infertility are explained by genetics. “The genetic diagnosis of both biological parents is particularly appropriate for mothers over 35, malformations in the genitourinary system (masculine or feminine), unexplained infertility (more than 2 years without descendants), and a history of chromosomal anomalies in first-degree relatives”. In these cases Genetadi Biotech is applying techniques such as high-resolution karyotype or various analyses of fluorescent in situ hybridisation (FISH), such as telomeric FISH, centromeric FISH and multiFISH (M-FISH)”.

The new genetic panels, focused on infertility and recurrent gestational losses, complement the new diagnostic support services that Genetadi provides for the gynaecological specialist:

1. Genetic diagnosis of ovule and sperm donors
As Doctor Castrillo pointed out, “in these cases a high-resolution karyotype (850 Bands, not a conventional one) is essential — given that these gametes can transmit hidden genetic illnesses — and a screening for cystic fibrosis. It should not be forgotten that cystic fibrosis is the most frequent rare disease – one in thirty persons in Europe is an asymptomatic carrier of a genetic mutation for this illness.

2. Molecular diagnosis of genetic syndromes
This type of analysis enables “identifying mutations in specific genes, analysing if large-scale genomic reordering exists and even undertaking the complete sequencing of the genome”, stated Doctor Castrillo.

3. Preimplantational diagnosis
Genetadi is developing the design of FISH (fluorescent in situ hybridisation) specific for the detection in blastomeres of the structural chromosomal alterations previously identified in the two parents.

4. Prenatal diagnosis
“Through the genetic analysis by amniocentesis with the Amniochip® test from Genetadi, we can study the existence or otherwise of 150 genetic syndromes clinically validated and associated with serious illnesses during pregnancy”. Prenatal diagnosis by amniocentesis during pregnancy is especially suitable “in pregnancies of women over 35, for maternal anxiety, finding ecographical markers for chromosomopathies, delay in intrauterine growth, family history of genetic illnesses, etcetera”

5. Neonatal screening
Innate errors in metabolism are serious disorders that can cause mental retardation and even premature death. In this field, Genetadi Biotech is applying its Neonatal-One®, “a test that identifies 56 of these genetic-based diseases in new-born babies and is supported by the recommendation from the Sociedad Española de Errores Innatos de Metabolismo (SEEIM)”. A more extensive version of this test, the Neonatal-One Plus, moreover provides molecular diagnosis for cystic fibrosis.

6. Genetic advice
As a complement to the new Genetadi integrated genetic diagnosis service for gynaecology, the laboratory provides these medical specialists with the possibility of having a genetic advice service. This help is undertaken by part of the multidisciplinary team specialising in genetics, which includes doctors in Biochemistry and in Medical Genetics.

Bioteknologia, Medikuntza, Osasuna

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