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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).