Table 1 Frequency of anomalies identified and examples of specific findings

From: Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development

Category of anomaly

Frequency of anomaly

Examples of specific findings

Central nervous system

37% (N = 31)

Structural anomalies, ventriculomegaly/hydrocephalus, neural migration disorders, hypoplasia

Hydrops/edema

36% (N = 30)

Hydrops, edema, cystic hygroma, ascites

Cardiovascular system

31% (N = 26)

Complex congenital heart defect, hypoplastic left heart, cardiomegaly, cardiomyopathy

Genitourinary system

27% (N = 23)

Renal cysts, renal agenesis, ambiguous genitalia, pyelectasis/hydronephrosis

Skeletal system

24% (N = 20)

Syndactyly, polydactyly, bowed long bones, kyphoscoliosis, absent and hypoplastic radius/ulna

Neuromuscular system

21% (N = 18)

Talipes equinovarus, contractures/ arthrogryposis multiplex

Head and/or neck

21% (N = 18)

Facial clefting, cleft lip/palate, dysmorphism, micrognathia

Respiratory system

11% (N = 9)

Diaphragmatic hernia; lung hypoplasia

Growth abnormality

10% (N = 8)

Intrauterine growth restriction

Gastrointestinal system

6% (N = 5)

Absent stomach, small stomach

  1. Boldfaced ultrasound anomalies were seen as both isolated findings and in cases with multiple congenital anomalies. The remaining ultrasound findings were identified only in cases with multiple congenital anomalies.
Back to article page