Study for couples planning pregnancy
Are you planning a pregnancy, but are worried that the baby may be born sick? Do you want to find out to what extent your couple is at risk of conceiving a child with a genetic disease? Are you looking for the cause of infertility or recurrent miscarriages? Take the FertiSCREEN test.
The FertiSCREEN test is a unique opportunity to precisely test 128 selected genes associated with genetic diseases most common in the Polish population, i.e. cystic fibrosis, phenylketonuria, spinal muscular atrophy, Tay Sachs disease, etc. The presence of a recessive mutation in the same genes in both partners creates a 25% risk of giving birth to a sick child. Therefore, knowledge of the carriage of a genetic disease makes it possible to take early steps to minimize the risk of passing the disease to offspring.
Why should you perform a genetic disease carrier test before pregnancy?
By performing the FertiSCREEN genetic panel, you will find out if you are a carrier of recessive mutations that, if passed on to your offspring, can cause severe genetic diseases. Thanks to this:
- your geneticist will be able to estimate the risk of giving birth to a child with a given genetic disease
- you will be able to make an informed decision about pregnancy and consider undergoing an IVF procedure with PGT-M preimplantation diagnosis, thanks to which you will have a chance to give birth to a healthy child
- you will learn the cause of possible problems with pregnancy and miscarriages
- your close relatives will also be able to undergo diagnostics for carriage of a given genetic disease
- the result of the test performed in the Gyncentrum Genetic Laboratory can be consulted with a Gyncentrum reproductive medicine doctor
For whom is the FertiSCREEN Panel for carriage of genetic diseases?
FertiSCREEN is recommended for:
- all couples who are planning a pregnancy and want to reduce the risk of transmitting a genetic disease to a child
- couples who want to find out to what extent they are at risk of conceiving a child burdened with a genetic disease
- couples experiencing habitual miscarriages of unexplained cause
Important!
Carriers of diseases inherited in an autosomal recessive manner are healthy and are usually unaware of having a defective gene. For an autosomal recessively inherited disease to manifest, the mutation must affect both copies of the gene in question. Therefore, it is important for a couple planning a pregnancy to be aware of whether both partners carry mutations in the same genes, which would carry a high risk of passing the genetic disease to future offspring.
Find out which genes we study in each variant
Genes studied: CFTR, FRAX, SMN 1 and 2
ABCA3, ABCA4, ABCC6, ABCC8, ABCD1, ACADM, ACADS, ACADVL, AGA, AGL, AGXT, AIRE, ALDH3A2, ALDOB, ALPL, AR, ARSA, ASPA, ASS1, ATP7B, BBS1, BBS10, BCKDHA, BCKDHB, BCS1L, BLM, BTD, C7, CFTR, CHM, CLCN5, CLN3, CLN5, CLN8, CLRN1, CNGA3, CNGB3, CPT1A, CPT2, CTNS, CTSK, DBT, DCX, DHCR7, DMD, DPYD, ELP1, EMD, F11, F8, FAH, FANCC, FGD1, FH, FLNA, G6PC1, GAA, GALC, GALT, GBA, GCDH, GJB1, GJB2, GJB6, GLA, GNE, GNRHR, GRHPR, HADHA, HBA1, HBA2, HBB, HEXA, HGD, HSD17B4, IDUA, IVD, KDM5C, LAMB3, LAMC2, LRP5, LRPPRC, MAN2B1, MCOLN1, MEFV, MLC1, MMACHC, MPI, MUTYH, NBN, NEB, NPC1, NPHS1, NPHS2, OTC, PAH, PCDH15, PEX1, PEX12, PEX7, PKHD1, PLG, PMM2, POMGNT1, PPT1, PROP1, PYGM, RNASEH2B, RS1, SACS, SBDS, SERPINA1, SGCA, SGCB, SLC12A6, SLC17A5, SLC25A15, SLC26A2, SLC26A4, SMPD1, TH, TMEM216, TMPRSS3, TPP1, TTPA, TYR, USH2A, XPC
Testing for carriage of genetic diseases met. NGS
The test material is DNA isolated from blood. The test is based on the Next Generation Sequencing ( NGS) technique, which allows the sequence of each gene to be read and the occurrence of variations within it to be determined. The panel tests 128 genes that are associated with genetic diseases that are most common in the Polish population.
What if the risk of passing on a genetic disease turns out to be high?
First of all, you will be able to consciously plan your pregnancy. If you decide to get pregnant naturally then you will be able to monitor the development and health of the baby during prenatal tests. Prenatal tests, i.e. genetic ultrasound, amniocentesis or chorionic villus biopsy are able to estimate with great accuracy the risk of giving birth to a child with a genetic disease.
You can also opt for in vitro fertilization. Preimplantation diagnosis can be performed during the IVF procedure. Preimplantation diagnosis is a method that eliminates the risk of transmitting genetic diseases to the baby, even before the woman becomes pregnant. Embryos are tested for genetic disorders, and only those that are not found to have a defect are administered to the uterus. For some couples, this is the only way to have healthy offspring.
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