Concurrent Single Gene and 24 Chromosome Aneuploidy Preimplantation Genetic Diagnosis (PGD) (IVF008)

Natera

Status: Completed

Conditions: Any Single Gene Disorder (Cystic Fibrosis, Tay-Sachs)

Treatments: Other: preimplantation diagnosis

Study type: Interventional

Funder types: Industry

Identifiers

NCT01023048

IVF008

Details and patient eligibility

About

Gene Security Network has developed a novel technology called Parental SupportTM (PS) which is used for Preimplantation Genetic Screening/Diagnosis (PGS/D) during in vitro fertilization (IVF). This technology allows IVF physicians to identify embryos, prior to transfer to the uterus, which have the best chance of developing into healthy children. The purpose of this study is to validate clinical use of PS to detect specific genetic mutation(s) known to cause severe inheritable diseases in embryos produced by at-risk couples. This may be done while simultaneously testing these embryos for aneuploidy. This study will allow for first of its kind commercial PGS/D testing to detect disease-associated genetic mutations together with aneuploidy screening.

Enrollment: 56 patients

Sex: All

Ages: Under 40 years old

Volunteers: Accepts Healthy Volunteers

Inclusion criteria

• couple (mother and father)at risk to have a child with a single gene disorder (e.g. cystic fibrosis, Tay-Sachs, sickle cell anemia)
• Able to provide laboratory report from commercial CLIA certified laboratory confirming presence of disease associated mutation in mother and/or father
• couple planning to go through IVF and desiring PGD for the specified mutation
• Father (male) willing and able to provide sperm sample
• Maternal (female's) age <40 years (e.g., 39 or younger)
• CVS/Amnio planned once the pregnancy occurs; willing/able to provide amnio/cvs sample for confirmatory testing or provide test results of confirmatory testing performed by an external CLIA certified laboratory.
• FSH <10 (FSH = Follicle Stimulating Hormone. FSH is an indicator of egg quality and rough predictor of egg stimulation success. FSH is routinely measured by the IVF center prior to beginning an IVF cycle.)

Exclusion criteria

• Couples without prior documentation of genetic mutation as specified above
• Adult couples where the male partner is not willing, able, or available to provide a semen sample.
• Maternal age >=40 years
• Couple unwilling to have amnio/cvs

Trial design

Primary purpose: Diagnostic

Allocation: N/A

Interventional model: Single Group Assignment

Masking: None (Open label)

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56 participants in 1 patient group

PGD testing

Experimental group

Treatment:

Other: preimplantation diagnosis