Genetic marker for Reproductive Conditions
- Technology Application
- As the first maternal gene linked to reproductive wastage, NALP7 constitutes a prime target for genetic testing. In 2000, the market of molecular diagnostic has generated more than one billions US$ of revenues. HMs occur in 1 in every 1500 pregnancies in western countries and up to 1 in every 250 pregnancies in Latin America, the Far East, and some Middle Eastern countries. This test will also be available for a second patient population made up of women suffering from recurrent spontaneous abortion (RSA). For every 3,000,000 US births annually, at least 600,000 embryos or fetuses are spontaneously aborted. Although there exist a multitude of genetic and cytological assays related to reproduction and fertility, these tests focus on prenatal diagnostic for the detection of a disease or condition in a foetus or embryo. NALP7, as the first identified maternal gene causing reproductive wastage, therefore constitutes a very attractive target for diagnostic test development.
- Detailed Technology Description
- We have identified a gene, NALP7, which is mutated in patients with a recurrent form reproductive wasatge conditions. Reproductive wastage is defined as the broad spectrum of abnormal pregnancies such as blighted ovum, ectopic pregnancies, spontaneous abortions (SAs), stillbirth, and any condition leading to the loss of the conception in utero or in the first week of birth.
- *Abstract
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Presently, there are no available clinical tests to predict SAs and other types of pregnancy complications due to maternal defects. The advantages of our set of identified mutations in the NRLP7 gene would allow the creation of a first in vitro diagnostic (IVD)/prognostic tool, which will enable patients to make more educated choices. Also, a test on maternal blood would have the advantage not to require invasive sampling from the fetus. The following patients would benefit from such test:
1) Patients who have had recurrent SAs or other types of RW and who would like to know their risk of recurrence and chances of having their own biological children from natural conceptions. Patients that are positive for NLRP7 mutations have high risk for recurrence and low chances of having children of their own, depending on the number and nature of mutations.
2) Patients who are contemplating ART (assisted reproductive technologies) and PGD (preimplantation genetic diagnostic). The advantage of testing this category of patients is tremendous, since detecting the type and number of mutations in the NLRP7 gene would enable a genetic counselor/clinician to counsel the patient prior to commencing this expensive and emotionally demanding treatment.
For all patients, the knowledge of the number and type of mutations in the NLRP7 gene would enable the clinician to monitor the patient more closely and increase the chances of a viable pregnancy. It is well-known that proper monitoring of pregnancies with placental abnormalities, intrauterine growth retardation increases the survival of the fetus. A minority of patients would be expected to carry 2 NLRP7 defective alleles and only these patients are at high risk for recurrence and have low chances of having their own children (3% of their pregnancies). However, these patients may benefit from ovum donation. If our preliminary observations are confirmed, patients with mutations in the NACHT domain of NLRP7 would benefit from PGD as the transfer of diploid embryos to them would enhance their chances of conceiving their own kids
- Country/Region
- USA
