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This study aims to characterize the association between history of pregnancy complications and M2 carrier status in IVF patients and the utility of M2 haplotype preimplantation genetic testing (PGT) in embryos produced by carrier couples. Participants in this study will be screened for the M2 variant. History of pregnancy complications and miscarriages will be studied in order to determine potential associations with M2 carrier-ship.
Patients consenting to participation in the study will receive a saliva collection kit for M2 testing. Genomic Prediction Clinical Laboratory will perform testing and issue a report per routine clinical procedures. Upon completion of issuing a report, the patients' medical records will be obtained from the IVF Center providing care to the patient. Information obtained may include: history of miscarriage, embryo transfer outcomes, preeclampsia, small for gestation age baby, or thrombophilia disorders.
In addition to obtaining records related to history of pregnancy complications, carrier couples will be offered the use of preimplantation genetic testing for M2 carrier status (PGT-M2) in their embryos. Patients electing to perform PGT-M2 will receive PGT-A according to standard clinical practice, along with M2 carrier status.
A total of 500 patients will complete the study and may be recruited from any IVF clinic in the United States. Patients will undergo ovarian hyper-stimulation, oocyte retrieval, fertilization and embryo culture per standard clinical protocol determined by each clinic.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Infertile patients | Patients attending an IVF center for infertility treatment |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| M2 Test | Other | DNA will be extracted from saliva samples obtained from participants. Genetic testing will be performed to screen for the M2 mutation and determine the carrier status of each patient and partner. |
| Measure | Description | Time Frame |
|---|---|---|
| M2 Haplotype frequency | Frequency of carriers of the M2 haplotype attending an IVF center for infertility treatment. | 1 month |
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Inclusion Criteria:
Exclusion Criteria:
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All couples above the age of 18 seeking infertility treatment at IVF centers
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Genomic Prediction Clinical Laboratory | North Brunswick | New Jersey | 08902 | United States |
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| ID | Term |
|---|---|
| D007246 | Infertility |
| D000026 | Abortion, Habitual |
| D011248 | Pregnancy Complications |
| ID | Term |
|---|---|
| D000091662 | Genital Diseases |
| D000091642 | Urogenital Diseases |
| D000022 | Abortion, Spontaneous |
| D005261 | Female Urogenital Diseases and Pregnancy Complications |
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Saliva swabs will be collected from participants. DNA will be extracted and used to screen for the M2 haplotype.