Table 1 Diagnostic yields by subtype in studies with sample size >100.

From: Application of exome sequencing for prenatal diagnosis: a rapid scoping review

Author/study design/sample size (N)

DGV/VUS overall/single/multisystem/VUS/incidental

Skeletal

Muscular and/or skeletal

Cardiac/ cardiovascular

Hydrops

Lymphatic or effusion

Nuchal

Spinal

CNS/nervous system

Urogenital/ genitourinary

Renal

Craniofacial

Gastrointestinal

Respiratory/ diaphragm

Ciliopathies

VACTERL

Miscellaneous

Lord et al.4 Prospective cohort N = 610

O: 8.5% (52/610)

S: 6.4% (30/467)c

M: 15.4% (22/143)

VUS: 3.9% (24/610)

15.4%b (10/65)

 

11.1%b (9/81)

9%b (3/33)

 

3.2%b (3/93)

10%b,e (1/10)

3%b (2/69)

 

0%b (0/16)

3.1%b (1/32)

2%b (1/45)

0%b (0/23)

   

Petrovski et al.5 Prospective cohort N = 234

O: 10% (24/234)

S: 6% (10/160)

M: 19% (14/74)

VUS: 20% (46/234)

24%a (8/34)

 

5%a (4/77)

 

24%a (5/21)

12%a (6/51)

0%a (0/1)

22%a (11/49)

 

16%a (4/25)

0%a (0/3)

0%a (0/6)

0%a (0/2)

  

10%a,f (3/29)

Fu et al.17 Retrospective cohort N = 196

O: 24% (47/196)

S: 22.3% (35/157)

M: 30.8% (12/39)

VUS: 12.8% (25/196)

I: 6.1% (12/196)

30%b (3/10)

 

20.6%b (7/34)

    

23.1%b (15/65)

23.1%b (6/26)

 

23.5%b (4/17)

0%b (0/5)

    

Normand et al.14 Retrospective cohort N = 146

O: 32% (46/146)

S: 17% (7/42)

M: 37.5%d (39/104)

VUS: not specified

I: 4.8% (3/62 trios)

 

39%a (28/72)

30%a (11/37)

    

34%a (22/65)

32%a (12/38)

 

46%a (22/48)

 

43%a (9/21)

  

36%a,g (27/75)

Boissel et al.16 Prospective cohort N = 101

O: 19% (19/101)

S: not specified

M: 19% (6/32)

VUS: not specified

 

25%h (2/8)

     

19% (7/36)

 

0%b (0/11)

   

80% (4/5)

11% (1/9)

 
  1. CNS central nervous system, DGV diagnostic genetic variant, I incidental findings, M multiple, O overall, S single, VACTERL vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal anomalies, and limb abnormalities, VUS variants of unknown significance.
  2. aDGV rate for structural anomaly type that is not isolated, e.g., fetuses with more than one anomaly may be counted several times.
  3. bDGV rate for fetuses with isolated structural anomalies in this organ system.
  4. cCalculated from individual DGV rates from the study.
  5. dSum of multisystem rates from the study.
  6. eHemivertebrae, spina bifida.
  7. fIntrauterine growth restriction.
  8. gDefined as miscellaneous abnormalities of prenatal birth and development (intrauterine growth retardation, cystic hygroma, abnormality of amniotic fluid, edema, single umbilical artery, Increased nuchal translucency, hydrops fetalis, prenatal movement abnormality, abnormalities of placenta or umbilical cord, fetal ascites, enlarged fetal cisterna magna, thickened nuchal skin fold, echogenic fetal bowel, absence of stomach bubble on fetal sonography).
  9. hFetal akinesia.
Back to article page