Principal Investigator: Bob Silver
Keywords: Pregnancy Loss , Microarray , Genetic abnormalities Department: Obstetrics And Gynecology (Dept)
IRB Number: 00055018 Co Investigator: Stephanie  Romero
Specialty: Maternal-Fetal Medicine, Maternal-Fetal Medicine
Sub Specialties: Genetics/Fetal Diagnosis, Recurrent Miscarriage
Recruitment Status: Active, not recruiting

Contact Information

Stephanie  Romero
stephanie.romero@hsc.utah.edu
801-581-7260

Brief Summary

We hypothesize that whole genome sequencing will detect not only cases of aneuploidy but also small de novo single gene mutations present in cases of pregnancy loss.

There are 3 objectives to this study:

  1. Analyze the products of conception from spontaneous pregnancy loss using whole genome sequencing technology
  2. Compare any new single nucleotide polymorphisms (SNPs) and single gene mutations discovered in the products of conception to the parental DNA, to determine whether these are new changes
  3. Compare any unique SNP’s or single gene mutations found in the products of conception to public databases of known mutations to determine whether they are known to be associated with human disease

Detailed Description

We hypothesize that microarray will detect not only cases of aneuploidy but also small de novo copy number changes present in cases of pregnancy loss.There are 3 objectives to this study:1. Analyze the products of conception from spontaneous pregnancy loss (miscarriage) using SNP microarray technology2. Compare any new copy number changes (CNC’s) discovered in the products of conception to the parental DNA, to determine whether these are new changes3. Compare any unique CNC’s found in the products of conception to public databases of known CNC’s to determine whether they are known to be associated with human disease

Inclusion Criteria

This study will involve four different groups of participants who are 18 years and older:

  1. Female participants who were previously enrolled in OBGYN pregnancy loss studies and have agreed to future contact for research opportunities. 
  2. Participants who present to the University of Utah with pregnancy loss 
  3. Women who have been contacted by the Utah Department of Health after experiencing a stillbirth (these patients receive a notice from UDOH, referring them to Dr. Silver and the University of Utah MFM Division for a consultation regarding stillbirth and possible pre-conception counseling) 
  4. Women who have experienced pregnancy losses and are recorded in the University of Utah EPIC system will be queried through the Enterprise Data Warehouse.  Research staff will review the medical record of these women to determine if they qualify for this study.  If they do, we will send them a letter asking if they are interested in discussing study participation.  We will follow the IRB guidelines for recruitment of participants through letters.  
  5. The fathers and any siblings of the pregnancies listed above.

Patients who have presented to the emergency department for evaluation are eligible as long as there are products of conception available for DNA extraction.  We will not exclude any patients with maternal medical conditions from this study; although, seriously ill patients, in whom gathering accurate information may be difficult will not be used in this study.  

We have also chosen not to exclude pregnancies with previous known genetic abnormalities diagnosed by CVS or amniocentesis; in addition to confirming the findings from the original karyotype, the microarray in these patients could potentially uncover additional genetic findings.  We will also include multiple gestations, as long as we are able to distinguish the tissues from the individual conceptions for separate evaluation.

Exclusion Criteria

As stated above, patients that are too seriously ill to provide accurate information will be excluded. Patients who are decisionally impaired or incarcerated individuals will not be included in this study.