Pregnancy Loss Pregnancy Loss Chromosomal abnormalities and spontaneous termination of pregnancy Both numerical and structural chromosomal abnormalities are the most common cause of miscarriage.Balanced structural abnormalities may be the cause of recurrent miscarriages, therefore the detection of such abnormalities in the first event reduces the risk of miscarriage in subsequent pregnancies.Cytogenetic studies of miscarriage tissue have a high failure rate due to maternal contamination and culture failure. What is PregnancyLoss? It is an advanced test that allows to determine if there is an underlying genetic cause in cases of spontaneous pregnancy loss. PregnancyLoss can be performed from the 5th week of gestation, providing essential information for reproductive genetic counselling, establishing the risk of presenting the same alteration in future pregnancies. Download Brochure Knowing the cause of the fetal loss in the first pregnancy allows to receive reproductive genetic counselling and reduces the risk of miscarriage in subsequent pregnancies. How does it works? After the miscarriage, the placental tissue continues to release cell-free DNA into the maternal bloodstream, making it possible to perform the analysis of chromosomal abnormalities. PregnancyLoss provides useful information for the couple’s genetic reproductive counselling. What type of sample is needed? The test is performed with a simple maternal blood sample and it must always be prescribed by a specialist. Once the sample arrives at the laboratory the result is available within 5 working days. Advice to the specialist Veritas offers a differential service by providing advice to the specialist for the interpretation of your patient’s results, whenever you need it. Contact us Frequently asked questions about PregnancyLoss When should the sample be taken? It should be taken as soon as possible after the miscarriage is confirmed, always before the curettage is performed. Who is suitable for? Pregnancies in which there has been a spontaneous interruption of fetal development, anembryonic sacs, lack of fetal heartbeat or miscarriage in progress. What information does it provide? The test analyses the following fetal chromosomal alterations which may cause miscarriage: Deletions and duplications (CNVs) greater than 7Mb in autosomal chromosomes affecting part of a chromosome, including unbalanced translocations. Aneuploidies in all chromosomes, these alterations affect the total number of fetal chromosomes. What is Whole Genome Sequencing (WGS)? Whole genome sequencing is reading the billions of letters in your DNA, a long chain made up of As, Ts, Cs, and Gs. All your genes are encoded with this 4-letter code, so we analyze your sequence and subsequently look for changes or variants in the genes. What is the NGS? NGS comes from the English term, Next Generation Sequencing, and is used to refer to the set of technologies used to sequence millions of DNA fragments in parallel, improving response times and the cost of genetic tests. Before the implementation of NGS sequencing, sequencing a genome cost millions of dollars.analyze your sequence and subsequently look for changes or variants in the genes. What is DNA? DNA is the genetic blueprint of life. It is a complex molecule that is found within every cell of our body and contains all the necessary instructions to create and maintain life. It is an information storage system, a code written with four letters that represent four molecules: adenine, thymine, guanine and cytosine. The complete sequence of these chemicals makes up our genetic code, our genome. A single DNA molecule contains around 6 billion A’s, T’s, C’s and G’s, in fact, if you could unfold a DNA molecule it would measure almost 2 meters. Why sequence the entire genome? Whole genome sequencing allows all your genetic material to be read by creating a library about you. In this way you will be able to know the relevant information today to prevent and have access to updates in the future, accessing your library again. This trip makes it possible that from now on you can personalize, with the help of your specialist, your health care based on what makes you unique: your DNA. What does it mean to have a genetic variant? All people have thousands of genetic variants in their DNA, but it doesn’t mean that they will develop a genetic disease. There are variants that simply make us unique, others that slightly increase our probability of developing a disease, and others that require medical attention because they pose a risk to our health. Interpretation of genetic reports should always be done during a consultation with a genetic counselor to help you understand the information. Is it bad to be a carrier of a genetic mutation? Each person can present alterations and variations in their DNA that give them characteristics that make them unique. Detecting these variations is a benefit since it will help to establish guidelines and opportune measures to reduce the possibility of developing the disease and / or treat it in an anticipated and more effective way. Will I suffer from a certain disease because I am a carrier of a disease of genetic origin? Each person can present alterations and variations in their DNA that give them characteristics that make them unique. Detecting these variations is a benefit No, being a carrier of a genetic disease is common. Humans have two copies of each gene. Being a carrier means that you have a genetic variant in one of the copies of a gene associated with a recessive disease. In other words, it has one copy of the gene that works and one copy that does not work. Recessive diseases require that an individual have two variants (the two copies of the gene that do not work) to develop the disease, therefore, you are a “carrier” of a variant, but are not at risk of developing this disease. However, knowing this information is very important since you are at risk of having children affected by this disease if your reproductive partner is also a carrier of the same pathology. Can my genome change over time? No. The genetic information of a person does not change, what advances is scientific knowledge for which fortunately we know more every day. For this reason, the genome is a resource for life and that can be consulted over time to find out new findings that have been produced thanks to the advancement of scientific knowledge. Why does pricing for genetic tests vary so much? The cost of a genetic testing service is related to the technology utilized and the amount genetic expertise is required to provide the result. There is a direct correlation between the amount of DNA information analyzed and the more clinically impactful and reliable the result will be. At Veritas we use whole genome sequencing that allows for the capture and analyzing of all of a person’s DNA. Because the information is so valuable and can significantly impact a person’s future healthcare, we believe it should be managed by a medical professional. We support either directly or in collaboration with the prescribing physician the pre and post-test genetic counseling process where the results are explained and an action plan is established to fully benefit from the information provided. What are chromosomes? DNA is not dispersed in our cells, it is carefully packed into structures called chromosomes. We have 46 chromosomes in total, half inherited from our mother and half from our father. Located on these chromosomes are segments of DNA called genes, many of them contain instructions for making proteins, and it is these proteins that determine everything about us, from the color of our eyes to our susceptibility to disease.