prenatal diagnosis

Fragile X chromosome syndrome and fertility

Fragile X syndrome is one of the most common causes of hereditary intellectual disability.
The gene responsible for the disease is known as FMR1 and it is found in the X sex chromosome. As a result, both the transmission and the severity of the disorder varies in each sex. As a general rule, men are said to suffer from it whilst women are said to transmit it.
There is a repeat region in the FMR1 gene (expansion) and its size determines whether or not the individual has the disorder or not, as indicated below. […]

2018-06-26T17:29:28+02:0029 de June de 2018|0 Comments

Haemophilia, fertility and pregnancy

Haemophilia is a genetic and congenital disorder that affects coagulation. Blood does not coagulate properly and, as a result, people with haemophilia have haemorrhage or bleeding episodes of varying severity and in different areas that can arise spontaneously or following trauma.
There are three types of hereditary haemophilia: […]

2018-04-17T09:04:45+02:0017 de April de 2018|0 Comments

Can we avoid the Genetic Ammiocentesis?

Genetic Amniocentesis is a prenatal diagnostic technique aimed at obtaining fetal karyotype. The karyotype is the number of chromosomes that are endowed with all people. Normal people we have 46 chromosomes distributed in 23 pairs (22 pairs of chromosomes called autosomes and 1 pair of sex chromosomes, XX or XY, which determine the sex of the fetus). Down syndrome or trisomy 21 is the most common chromosomal abnormality in new born infants; in this case, the individual has 47 chromosomes, and the alteration is that there are 3 21 chromosomes rather than two. […]

2014-07-16T13:41:57+02:004 de August de 2014|0 Comments

Array-CGH: Discovering the miracles of the embryo. Comprehensive Chromosome Screening (PGS/PGT-A/CCS)

New technologies are making remarkable progress in the diagnosis of fertility. The latest development that has been incorporated into the range of diagnostic techniques is called array-CGH.
This new genetic test allows us to analyze our cells’ DNA to limits that years ago we would have considered pure science fiction.
The human genome is made up of 46 chromosomes: 23 from the father and 23 from the mother. All of our organism’s genetic information is stored in these chromosomes. The excess or defect of any chromosome region may be responsible for certain diseases or fertility problems, such as implantation failure or recurrent miscarriages. […]

2018-03-26T18:36:18+02:0010 de April de 2013|1 Comment

Marfan Syndrome and PGD (embryo genetic diagnosis)

Marfan syndrome is an inherited genetic disorder that affects connective tissue.

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2016-08-09T13:51:44+02:0012 de August de 2011|0 Comments

FIRST MONTH OF PREGNANCY: WEEK 6-9 (1st visit to gynaecologist)

During these first 8 weeks, our baby is in what we call the embryonic stage. Physiologically, babies begin to develop the beginnings of limbs, which will result in their arms and legs. Their height reaches 9 mm at the end of the first month and weighs 0.5 grams. The first internal organs are formed, including the heart, which begins to beat on the 25th day, and lungs. At the same time, the neural tube begins to form which becomes the brain and spinal cord. […]

2016-09-22T12:20:39+02:0016 de May de 2011|4 Comments
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