Table 2 Genetic workup performed for all cases of NIHF

From: Nonimmune hydrops fetalis: identifying the underlying genetic etiology

Test

Number cases receiving test

Number cases with abnormal result

Abnormal findings (number of cases with each finding)

Karyotype

40

11

Turner syndrome (6),

trisomy 21 (3),

trisomy 18 (1),

chromosome 2 inversion (1)

Chromosomal microarray

30

2

Trisomy 21 (2)

Exome sequencing

2

1

Compound heterozygous PIEZO1 variants (1)a

Targeted genetic testing

3

3

PTPN11 pathogenic variant (2),b

Compound heterozygous PIEZO1 variants (1)a

Hydrops gene panel

2

0

—

RASopathy gene panel

3

0

—

Lysosomal storage enzyme assay panel

1

0

—

  1. aExome sequencing identified compound heterozygous PIEZO1 variants (c.3206G>A of paternal inheritance, and c.6208A>C of maternal inheritance) in the second hydropic fetus for one woman. Remaining DNA from the first hydropic fetus was sequenced, and found to have the same compound heterozygous PIEZO1 variants.
  2. bPathogenic variants identified in PTPN11 were c.417G>C for one case, and c.317A>C for the other
  3. CMA chromosomal microarray analysis, NIHF nonimmune hydrops fetalis.
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