Blog

The importance of gamete donor genetic screening

Submitted by Andrés Antón on Tuesday, 28 November 2017 - 8:16pm.

Two Couples Sue After Children Are Born with Genetic Abnormality Traced Back to Donated Eggs

A few days ago Time Health reported the case of two couples suing their doctor and fertility clinic in New York after giving birth to two children with a genetic abnormality from donated eggs.

Three years of PGS by NGS: a mature technique for embryo chromosome screening

Submitted by Andrés Antón on Wednesday, 29 June 2016 - 11:24am.

In June 2013 the first baby resulting from a NGS-PGS screened IVF cycle was born in Pennsylvania, USA. Since this initial approach for the application of NGS to PGS, methodologies have been further streamlined by NGS technology firms and a few highly specialized PGS labs.

This anniversary occurs just before the upcoming Annual Meeting of the European Society of Human Reproduction and Embryology (ESHRE, Helsinki 3-6 July) where the latest technical developments and clinical outcomes in this field are reviewed.

May PGS contribute to reduce multiple birth rate?

Submitted by Andrés Antón on Tuesday, 7 June 2016 - 9:05pm.

HFEA’s annual statistical report, released on March 2016, gathered fertility figures for cycles performed in the UK within 2014, plus live birth rates for cycles carried out in 2013. HFEA (Human Fertilisation and Embryology Authority) is the national regulator for the British Fertility sector.

Among many other figures, the report highlights that general success rates keep on rising, with a slight increase in IVF birth rate from 25.9% in 2012 to 26.5% in 2013.

ArrayCGH: New way for detecting the root of congenital genetic cardiomyopathies

Submitted by Andrés Antón on Thursday, 18 June 2015 - 2:58pm.

The detection of the genetic cause in patients with congenital cardiomyopathies is one of the first steps to follow in order to achieve a good clinical care on patients. For detecting in an accurate and efficient way, today we speak about arrayCGH. A technique which, along with FISH (fluorescence in situ hybridisation), is able to identify variations in the number of DNA copies of the patient.

The exome: From the study of the symptoms to mutations of genes

Submitted by Andrés Antón on Monday, 8 June 2015 - 1:00pm.

In this post we discuss about the wide application of exome sequencing in the clinical sector.

Exome is responsible for much of the final performance of our body. The exons contain important information which, when it is decoded, it determines the development of tissues, organs and finally, living organisms.

New genes involved in epilepsy SIK1 and MEF2C

Submitted by Andrés Antón on Tuesday, 2 June 2015 - 12:00am.

The latest scientific research shows new genes involved in epilepsy.

Dr. Alex Paciorkowski (Assistant Professor of Neurology at the University of Rochester Medical Center) with his team, led an investigation to analyze the genetic profiles of 101 individuals with developmental epilepsy.

Epilepsy

Autism and genetics: Towards a Reliable Diagnosis of Autism

Submitted by Andrés Antón on Friday, 8 May 2015 - 6:59pm.

The genetics of autism is a promising area of clinical study, with an important projection in the health sector.

Today it is still difficult to determine the exact cause of autism. It is a disease that is more prevalent in boys than girls, increasing the number of children diagnosed during the last two decades.

Now, the genetics of autism has greatly improved the diagnosis of this disease. An investigation with twins in the United Kingdom suggests that genes are important in the onset of autism.