What is the Pregnarisk Test?
Almost 1 out of every 3 marriages in Turkey is consanguineous marriage. Therefore, pre-pregnancy screenings are of great importance.
• Frequency of rare diseases in the population that does not have consanguineous marriage is 1/10
• The rate of carrying the same recessive disease from the spouses in consanguineous marriages is 30%.
• Rate of children with the recessive disease per pregnancy in consanguineous couples 7.5%
• The rate of being a carrier for more than one genetic disease in consanguineous couples is 6%
• THESE DISEASES ARE LIFELONG CHRONIC DISEASES.
• SOME ARE FATAL.
* Screening for these diseases before pregnancy is now a routine accepted by all relevant scientific committees.
https://www.obgproject.com/2021/07/25/acmg-recommendations-for-preconception-and-prenatal-carrier-screening/
https://www.acog.org/clinical/clinical-guidance/committee-opinion/articles/2017/03/carrier-screening-for-genetic-conditions
PREGNARISK PANELS
PANEL 1
Every pregnant or pregnant couple or a couple who comes to counseling before getting married can use this panel.
Panel Content and Diseases to be Screened;
• Chromosome Analysis
• Alpha and Beta Thalassemia and Sickle Cell Anemia - Whole blood- Hemoglobin electrophoresis, genetic analysis in risky cases
• Fragile X - Repeat Analysis
• Spinal Muscular Atrophy (SMA) -Copy Number Analysis
• Duchenne Muscular Dystrophy (DMD) - MLPA and Sequence Analysis
• Phenylketonuria - Sequence Analysis
• Biotinidase Deficiency - Sequence Analysis
• 21 Hydroxylase Deficiency - MLPA and Sequence Analysis
• Cystic Fibrosis - Sequence Analysis
Required material
• 4 ccs of EDTA Blood and 2 ccs of Heparinized blood from spouses
PANEL 2
It is a comprehensive panel that can be recommended during or before pregnancy for couples with or without consanguineous marriage. It includes a significant part of the diseases with a frequency of 1/200 and above that is “recommended” in ACMG criteria. More than 4000 diseases that cause risks to maternal and infant health are screened during pregnancies.
Panel Content and Diseases to be Screened;
• Chromosome Analysis
• Wide scan - Clinical Exome Sequencing
• Fragile X - Repeat Analysis
• Spinal Muscular Atrophy (SMA) - Copy Number Analysis
• Duchenne Muscular Dystrophy (DMD) - MLPA
• 21 Hydroxylase Deficiency – MLPA
Required material
• 4 ccs of EDTA Blood and 2 ccs of Heparinized blood from spouses
PANEL 3
It is the first panel that should be recommended for consanguineous couples. It can be recommended for couples who do not have consanguineous marriages, as it reduces the risk very much. There is a wealth of information gained in panel 2 and panel 3. This information can sometimes show the signs of a disease that exists in the person and has a treatment. Therefore, if the family wishes, an evaluation can be made from this point of view. About 8000 diseases that cause risks to maternal and infant health are screened during pregnancies.
Panel Content and Diseases to be Screened;
• Chromosome Analysis
• Wide scan - Whole Exome Sequencing
• Fragile X - Repeat Analysis
• Spinal Muscular Atrophy (SMA) - Copy Number Analysis
• Duchenne Muscular Dystrophy (DMD) - MLPA
• 21 Hydroxylase Deficiency - MLPA
Required material
• 4 ccs of EDTA Blood and 2 ccs of Heparinized blood from spouses