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Table 1 Results of different indications for prenatal diagnosis

From: Application of chromosome microarray analysis in prenatal diagnosis

Prenatal diagnostic indications n Abnormal karyotype Detection rate (%) PCNVS Detection rate (%) VOUS Detection rate (%)
NIPT abnormal 25 8 32 1 4 4 16
Heart malformation 63 3 4.76 2 3.17 5 7.94
Urinary system abnormalities 56 0   3 5.35 1 1.78
Multiple malformations 9 3 33.33 0   0  
Lateral ventricle dilatation 38 1 2.63 2 5.26 1 2.63
Digestive disorders 22 0   1 4.55 2 9.09
NT > 3 mm 31 1 3.23 0   1 3.23
Hydrocyst of the neck 8 1 12.5 0   0  
Foot inversion 4 1 25 0   0  
Abnormal karyotypeof couple 8 1 12.5 0   1 12.5
Abnormal Karyotype 11 1 9.09 1 9.09 1 9.09
High-riskscreening 3 0   1   1  
Fetal growth restriction 30 1   1   1  
Oligohydramnios 2 0   1   0  
advanced maternal age 3 2      
Nervous system abnormalities 15 0   2   5  
Cleft lip and palate 5    2    
Polyhydramnios 22      3  
stillbirth 9      2  
Adverse pregnancy history 3      1  
FISH does not match karyotype 2      1  
Short nasal bone 12      1  
Left ventricular strong echo 13       
Choroid plexus cyst 11       
Strong echo of bowel 13       
Eyes wide 1       
Pleural effusion 7       
Skeletal abnormalities 11       
Pulmonary cystadenoma 5       
Diaphragmatic hernia 4       
Isolated lung 1       
Total 447 23   17   31  
  1. Each case is classified according to its most important indication. Indications are listed in order of importance: abnormal ultrasound, abnormal NIPT results, high risk of serum screening for pregnant women, genetic factors of parents, marriage of close relatives, past adverse pregnancy outcome, and pregnancy at advanced maternal age
  2. Family history abnormalities include parents with mental retardation, ataxia, or epilepsy. Other indications include abnormal fetal karyotypes and fetal karyotypes that do not match FISH test results
  3. aUltrasound abnormalities include structural malformations, abnormal soft markers, fetal growth restriction, and abnormal amniotic fluid volume
  4. bAbnormal karyotypes include balanced chromosomal translocations, inversions, duplications, and Aneuploidy