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Table 2 Clinical manifestations and outcomes in each RAA case

From: Phenotypic findings and pregnancy outcomes of fetal rare autosomal aneuploidies detected using chromosomal microarray analysis

 

Chromosomes involved with RAA

 

16

22

9

2

15

7

3

8

4

12

14

20

5

10

Total

Total

20

16

15

8

8

7

3

3

2

2

2

2

1

1

90

Advanced maternal age

3

8

6

5

5

3

 

1

1

 

1

1

1

 

35

High-risk for serum prenatal screening

9

6

3

2

 

1

  

2

1

 

1

 

1

26

RAA-Positive in NIPS

10

9

7

2

5

4

2

1

  

1

  

1

42

Ultrasound abnormalities

8

8

9

4

1

1

1

1

2

1

1

2

 

1

40

Soft markers

               

Increased NT (≥ 3.0 mm)

 

4

1

1

  

1

    

1

 

1

9

Persistent left superior vena cava

 

1

3

1

1

         

6

Mild fetal ventriculomegaly (between 10 and 15 mm)

1

1

1

  

1

        

4

Single umbilical artery

 

1

1

1

          

3

Short fetal femur length

 

1

1

  

1

        

3

Echogenic fetal bowel

  

1

1

          

2

Echogenic intracardiac focus

  

1

           

1

Enlarged cisterna magna

 

1

            

1

Renal echo enhancement

  

1

           

1

Absent gallbladder

  

1

           

1

Structural defects

               

Cardiovascular

4

1

3

1

 

1

 

1

1

1

1

   

14

Musculoskeletal

4

 

1

1

 

1

        

7

Diaphragmatic hernia

  

1

1

          

2

Urogenital

  

1

           

1

Respiratory

1

             

1

Intrauterine growth retardation

1

2

  

1

  

1

      

5

Pregnancy outcomes

               

TOP

16

8

14

5

6

4

2

2

2

 

2

1

 

1

63

Live birth

4

8

1

3

2

3

1

1

 

2

 

1

1

 

27

Premature delivery

1

2

 

2

 

1

        

6

Postnatal anomaly

2

1

 

1

2

1

   

1

    

8

  1. NT nuchal translucency, NIPS noninvasive prenatal screening, TOP termination of pregnancy