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Fetal Microarray

Fetal Microarray

  • Microarray testing looks broadly at an individual’s genetic information for areas of copy number variation (deletions/duplications) down the size of single or partial genes.
  • Fetal microarray is available only for eligible indications (see table below)
  • For microarray testing on fetal specimens, a referral to Medical Genetics is:
    • Required for all on-going pregnancies.
    • Recommended for IUFD/fetal tissue testing when anomalies have been identified, as testing beyond microarray may be indicated.
    • Required for IUFD/fetal tissue testing if no anomalies have been identified in the fetus, prior to consideration of microarray testing.

 

 IndicatedNot Indicated

General findings

 

  • Fetal macrosomia AND fetal anomaly

  • Oligo/polyhydramnios AND fetal anomaly

  • Single umbilical artery AND fetal anomaly

  • IUGR noted <20weeks

  • Cystic hygroma or NT ≥ 3.5 mm

  • Non-immune fetal hydrops

  • Fetal anomalies with 2+ organ systems (including two non-indicated anomalies)

  • Parents with ≥2 RPL

  • Fetal macrosomia (no other anomalies)

  • Oligo/polyhydramnios (no fetal anomalies)

  • Single umbilical artery (no fetal anomalies)

  • Soft markers only (i.e. absent nasal bone, renal pylectasis, echogenic intracardiac focus, echogenic bowel, brachycephaly, choroid plexus cysts)

  • Risk of T21 with no fetal anomalies 

  • IUGR from known placental dysfunction

  • IUFD without fetal anomalies

Gastrointestinal 

 

  • Diaphragmatic hernia

  • Omphalocele

 

  • Duodenal atresia

  • Gastroschisis  

  • Tracheoesophageal fistula

Craniofacial

 

  • Abnormal profile

  • Cleft lip +/or palate

  • Craniosynostosis

  • Microcephaly  

  • Brachycephaly

  • Macrocephaly

 

Intracranial
  • Abnormal cisterna magna

  • Absent CSP

  • Agenesis corpus callosum

  • Cerebellar anomaly

  • Ventriculomegaly >13mm

  • Isolated choroid plexus cyst

  • Ventriculomegaly </= 13 mm

 

Musculoskeletal and Cranial

 

  • Contractures

  • Limb/digit anomalies (excluding clinodactyly)

  • Neural tube defect (required for surgery)

  • Talipes/club foot

  • Thoracic anomaly 

  • Polydactyly

  • Vertebral anomaly

  • Acrania/anencephaly

  • Clinodactyly   

  • Neural tube defect (no fetal surgery)

  • Scoliosis

Genitourinary

 

  • Atypical genitalia 

  • Cystic kidney

  • Hypospadias

  • Renal malformation/anomaly 

  • Ureteral anomaly

  • Lower urinary tract obstruction (LUTO)

  • Renal agenesis

 

Cardiac

 

  • Complex congenital heart anomaly

  • Double outlet right ventricle (DORV)

  • Hypoplastic left heart

  • Transposition of Great Arteries (TGA)

  • Tetralogy of Fallot

  • Atrial septal defect

  • Atrioventricular canal defect

  • Coarctation of the aorta 

  • Ventricular septal defect