Pregnancy Loss Microarray

Overview

Status: Active, not recruiting
Keywords: Pregnancy Loss , Microarray , Genetic abnormalities
IRB Number: 00055018
Specialty: Maternal-Fetal Medicine, Maternal-Fetal Medicine
Sub Specialties: Genetics/Fetal Diagnosis, Recurrent Miscarriage

Brief Summary

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 technology
  2. Compare any new copy number changes (CNC’s) discovered in the products of conception to the parental DNA, to determine whether these are new changes
  3. 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

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 technology 2. Compare any new copy number changes (CNC’s) discovered in the products of conception to the parental DNA, to determine whether these are new changes 3. 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

Principal Investigator: Bob Silver
Department: Obstetrics And Gynecology (Dept)
Co Investigator: Stephanie Romero
Co Investigator: Bob Silver
Co Investigator: David Branch

Contact Information

Name:Stephanie Romero
Phone: 801-581-7260
Email: stephanie.romero@hsc.utah.edu

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 OB/GYN pregnancy loss studies. 
  2. Participants who present with pregnancy loss within the University of Utah (e.g., clinics, emergency department, labor and delivery).
  3. Female patients whose samples were sent to ARUP for karyotype after a pregnancy loss.  These samples are currently held by Dr. katherine Geiersbach in a tissue bank at the University of Utah. 
  4. The fathers of the pregnancies listed above in #1, 2 and 3.

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.  Mentally retarded patients and incarcerated individuals will not be included in this study.