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Fetal Genetic Testing for IUFD and Stillbirth from Products of Conception (POC)


Clinical Indication

  • Spontaneous IUFD/Stillbirth with or without Congenital anomalies
  • A Maternal sample (buccal or blood) is required with all fetal POC samples (excluding pathology specimens) to rule out maternal DNA contamination, which can interfere with the interpretation of results. 
  • Paternal samples are not required.


Testing options:

Targeted Aneuploidy by QFPCR for common aneuploidies

  • Detects the following targeted fetal aneuploidies commonly associated with pregnancy loss: 
    • Trisomy 21
    • Trisomy 13
    • Trisomy 18
    • Sex chromosome aneuploidies (including Monosomy X)
    • Triploidy

Microarray analysis after a non-diagnostic QFPCR result for appropriate clinical indications:

  • Fetal congenital anomalies (refer to Table 1)
  • Recurrent pregnancy loss (≥ 3 losses)
  • Not clinically indicated when an IUFD/stillbirth has an existing clinical explanation:
    • Previable ruptured membranes
    • Preterm cervical change
    • Placental abruption
    • Intrauterine infection
    • Evidence of cord accident
    • Maternal condition associated with IUFD (eg. Severe preeclampsia)
  • Targeted Aneuploidy QFPCR testing will always precede microarray testing
  • Can only be done if quality and quantity of DNA extracted from the sample is sufficient
  • In the setting of fetal anomalies, consultation with Medical Genetics is recommended prior to requesting microarray testing, as additional genetic testing may be indicated (see below)
  • Consultation with Medical Genetics is required for consideration of microarray or other genetic testing if no anomalies have been identified in the fetus, and there is no history of recurrent pregnancy loss 

Other Genetic Testing for a fetus with identified anomalies after a non-diagnostic microarray result:

  • up to 10-12% of cases may be explained by pathogenic variants in single genes that are not detected by microarray
  • Medical Genetics consult is required for consideration of additional genetic testing
  • Maritime Medical Genetics Service can be contacted at (902) 470-8754


Table 1. IWK Clinical Genomics Laboratory: Criteria for Fetal Microarray Testing for IUFD and Stillbirth

Indicated Not Indicated
  • Fetal anomalies involving two or more organ systems
  • Single fetal anomalies with additional ultrasound findings such as:
    • fetal growth restriction or overgrowth
    • oligo- or polyhydramnios
    • single umbilical artery
  • Cystic hygroma or NT ≥ 3.5 mm
  • Non-immune fetal hydrops (noted priorto fetal demise)
  • Isolated fetal anomalies (without additional ultrasound findings)
    • Complex congenital heart anomaly
    • Intracranial abnormality
    • Polycystic kidneys
    • Congenital diaphragmatic hernia        
    • Omphalocele
    • Facial abnormality (CL/P) 
    • Musculoskeletal abnormality
    • Severe growth restriction
  • IUFD without fetal anomalies
  • Soft markers only, including:
    • absent nasal bone
    • renal pylectasis
    • echogenic intracardiac focus
    • echogenic bowel
    • brachycephaly
    • choroid plexus cysts
  • Growth restriction attributed to placental dysfunction
  • Polyhydramnios
  • Isolated fetal anomalies (without additional ultrasound findings)
    • Acrania/anencephaly
    • ONTD
    • Renal agenesis
    • Lower urinary tract obstruction
    • Gastroschisis
    • Ventriculoseptal defect
    • Unilateral or bilateral club feet