GENETIC TESTING/

Miscarriage Pack

All-in-one for the couple with miscarriage problems

Why chromosomes matter

Most Gynecologists want to look clear into the genetic heritage of a couple when problems of recurrent miscarriage (also called Recurrent Pregnancy Loss – RPL) happen.

This is right, because balanced chromosomal translocations sometimes cause RPL in one of the partners.

Our Miscarriage Pack is prepared to give you all the genetic information necessary to complete your RPL studies at your clinic.

We are here for you

Genetic counseling is crucial to collect precious information from your personal and family history. It will guide us to understand the causes of RPL.

Our Geneticist will assist you in the difficult moments following pregnancy loss or stillbirth. We’re here to listen, understand and help.

Miscarriage brings grief

Miscarriages are considered normal in the reproductive history of a woman. Depending on the guidelines, from 2 to 3 miscarriage are taken as possible and common. However, this does not reduce the emotional impact of miscarriage.

A couple’s well-being may become at risk, as well as the desire of having other pregnancies. Genetics will definitively help you exclude chromosomal (or rare monogenic) causes of recurrent pregnancy loss and stillbirth cases. The knowledge about the causes will help you understand and plan for the future.

Let’s see some facts about Recurrent Pregnancy Loss (RPL)

Chromosomal abnormalities are one of the most frequent causes (50-60%) of spontaneous miscarriage. They may concern the number of chromosomes or their structure, like in Robertsonian translocations or balanced translocations. These anomalies greatly increase the likelihood of having a genetically unbalanced gamete due to the complex mechanisms of segregation during meiosis. The presence of these structural alterations is 10 times greater in couples with RPL than in the general population.
Regarding the causes (etiology), about 50% of miscarriages are idiopathic, that is they are likely due to a concurrence of several different factors. Instead, in the remaining 50% of cases, it is possible to identify the main cause, which is often of genetic origin (to learn more about this topic, read our post Recurrent pregnancy loss (RPL): definitions and etiology.
Of all the clinically recognized pregnancies, about 15% end in a miscarriage, making this event one of the most common adverse events. Unfortunately, about 2-5% of couples take on recurrent pregnancy loss (RPL).
Recurrent Pregnancy Loss centers usually recommend genetic testing by default. Karyoptype and whole exome sequencing or whole genome sequencing are recommended. Testing the POC would be the first way of choice. If POC is not available, testing the parents by the same method is also good.

Let’s elucidate which starting material is better. This is the abortive material (or product of conception – POC) in some cases. In other cases, or when the POC is not available, parental DNA samples can be good enough.

So, best genetic approaches remain:

  • Karyoptype analysis (on POC or parents)
  • Whole Exome Sequencing (on POC or parents)
  • Whole Genome Sequencing (on POC or parents)

The main inherited thrombophilias are the Factor V Leiden, the prothrombin gene mutation G20210A, protein C, protein S, and anti-thrombin deficiency. Hereditary thrombophilias have been associated with recurrent pregnancy loss in the past. However, a growing series of evidence disproves this association and do not confirm the results. Therefore, routine screening for thrombophilia is not recommended. However, these tests are still requested by many clinics as mandatory, so we’re here to help.

Book your Miscarriage Pack today and get

Karyotype with high resolution and priority turnaround time

Factor II and Factor V Leiden

As additional options, you can also get any of the following:

Monogenic RPL causes

Test the KHDC3L gene for familial hydatiform mole and the CCNB3 gene for another monogenic cause of RPL.

EXOME PRO

Whole Exome Sequencing

Full scanning of the human genes for family planning and your health

GENOME PRO

Whole Genome Sequencing

Full scanning of the human genes for family planning and your health

Technical specifications

To access the Miscarriage Pack you must do a Genetic Counseling with our Geneticists. Genetic Counseling can be done on-site at our partner clinic or online from every corner of the globe. All analyses are performed at partner clinical laboratories.

Below are the technical specifications of the basic pack. Additional tests can be added as desired.

Test performed TAT Coverage Details
KÁRION-20
Thrombophilia
14 days
14 days
chromosomal imbalances
Factor II and Factor V Leiden
Standard karyotype on 20 metaphases
Pomorphisms scanning

How do I get my DNA test results?

There are three simple steps to get your Genetic Testing done in the blink of an eye.

Step 1

Book your Genetic Counseling. The Genecisist will visit you onsite at our clinic or online wherever you are.

Step 2

Provide your biological samples. These can be taken locally at our clinic or can be shipped to us with our kit.

Step 3

Get your Genetic Reports online by email. If any, our Geneticist will explain you every pathological result.

Miscarriage can disorient you

Can I have a healthy baby?

Every couple asks themselves this question.

Very rarely genetic imbalances prevent pregnancy with 100% odds.

 

However, in several cases, genetic imbalances can significantly impact your chances. Genetic studies are the only way to exclude conditions with a high or total rate of pregnancy impossibility.