Clinical trial NCT01916928: The Use of Cell Free Fetal DNA in the Maternal Blood in the Evaluation of Intrauterine Fetal Demise and Miscarriage
Official title: The Use of Cell Free Fetal DNA in the Maternal Blood in the Evaluation of Intrauterine Fetal Demise and Miscarriage
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Circulating Cell Free Fetal DNA
Intrauterine Fetal Demise
Miscarriage
Keywords: Circulating cell free fetal DNA
Intrauterine fetal demise
Miscarriage
Lead sponsor: Medstar Health Research Institute
Sponsor class: OTHER
Collaborators: name: Sequenom Laboratories
First posted: 2013-08-06
Enrollment: 50
Sex: FEMALE
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Women presenting to Washington Hospital Center with fetal loss would be offered DNA sequencing of cell free fetal DNA from maternal blood in addition to the standard workup for fetal demise and miscarriage as deemed appropriate by the patient's care provider. Only women with sonographic evidence of products of conception in-utero will be offered enrollment.

Brief summary: Women presenting to Washington Hospital Center with fetal loss would be offered participation in the study. The objective is to determine if ccffDNA obtained from maternal blood is present in the setting of missed abortion or fetal demise.

The investigators primary hypothesis is that cell free fetal DNA will be present in maternal blood in the presence of a failed pregnancy.


Eligibility criteria: Inclusion Criteria:

* Women diagnosed with Intrauterine fetal demised or missed abortion

Exclusion Criteria:

* Patients diagnosed with threatened abortion with cardiac activity present
* Patients with IUFD who have delivered the fetus (the induction process may already be in process, however, the fetus and placenta must be in situ at the time of blood sampling)
* Patients with known genetic abnormalities or mental retardation as a result of chromosomal abnormalities 13, 18, 21, or sex chromosomes.
* Children under the age of 18
* Patients not fluent in or unable to consent to the study in English

Primary outcomes:
measure: The Presence or Absence of Cell Free Fetal DNA in Maternal Blood in the Setting of a Failed Pregnancy.
timeFrame: During initial presentation for treatment
Secondary outcomes:
measure: The Accuracy of ccffDNA Compared to Genetic Information Obtained From Amniocentesis, Chorionic Villus Sampling, Fetal, or Placental Tissue.
timeFrame: 3-4 weeks after specimen processing
Other outcomes:
Locations:
city: Washington
country: United States
facility: Medstar Washington Hospital Center
state: District of Columbia
Study officials:
affiliation: Medstar Health Research Institute
name: Rita W Driggers, MD
role: PRINCIPAL_INVESTIGATOR
References:
citation: Nagaishi M, Yamamoto T, Iinuma K, Shimomura K, Berend SA, Knops J. Chromosome abnormalities identified in 347 spontaneous abortions collected in Japan. J Obstet Gynaecol Res. 2004 Jun;30(3):237-41. doi: 10.1111/j.1447-0756.2004.00191.x.
citation: Baena N, Guitart M, Ferreres JC, Gabau E, Corona M, Mellado F, Egozcue J, Caballin MR. Fetal and placenta chromosome constitution in 237 pregnancy losses. Ann Genet. 2001 Apr-Jun;44(2):83-8. doi: 10.1016/s0003-3995(01)01042-5.
citation: Reddy UM, Page GP, Saade GR. The role of DNA microarrays in the evaluation of fetal death. Prenat Diagn. 2012 Apr;32(4):371-5. doi: 10.1002/pd.3825.
citation: American Congress of Obstetricians and Gynecologists, Management of Stillbirth. ACOG Practice Bulletin, 2009. 102
citation: Palomaki GE, Kloza EM, Lambert-Messerlian GM, Haddow JE, Neveux LM, Ehrich M, van den Boom D, Bombard AT, Deciu C, Grody WW, Nelson SF, Canick JA. DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation study. Genet Med. 2011 Nov;13(11):913-20. doi: 10.1097/GIM.0b013e3182368a0e.
citation: Kyle PM, Sepulveda W, Blunt S, Davies G, Cox PM, Fisk NM. High failure rate of postmortem karyotyping after termination for fetal abnormality. Obstet Gynecol. 1996 Nov;88(5):859-62. doi: 10.1016/0029-7844(96)00311-0.
citation: MacDorman MF, Kirmeyer S. Fetal and perinatal mortality, United States, 2005. Natl Vital Stat Rep. 2009 Jan 28;57(8):1-19.
citation: Clark-Ganheart CA, Fries MH, Leifheit KM, Jensen TJ, Moreno-Ruiz NL, Ye PP, Jennings JM, Driggers RW. Use of cell-free DNA in the investigation of intrauterine fetal demise and miscarriage. Obstet Gynecol. 2015 Jun;125(6):1321-1329. doi: 10.1097/AOG.0000000000000863.