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Table 2 Additional indications for all karyotyped amniocenteses

From: Discordant circulating fetal DNA and subsequent cytogenetics reveal false negative, placental mosaic, and fetal mosaic cfDNA genotypes

Total number Indication
53 Abnormal ultrasounds:  Including heart defects (14); IUGR (4); echogenic bowel (4)  spina bifida (3), skeletal abnormalities (2) choriod plexus cyst  oligohydramnios; cystic hygroma
26 Increased marker screening risk: 2 atypical abnormal karyotypes
12 Advanced maternal age
9 Family history: genetic disease including metabolic, chromosomal, Rh
2 Other
1 Parvovirus exposure: 46,XY karyotype
  1. Completed while testing the NIPT cases (Table 1).