Skip to main content

Table 2 Prenatal results of biochemical analysis in the amniotic fluid samples of 7 unaffected fetuses with one elevated metabolite levels

From: Biochemical and genetic approaches to the prenatal diagnosis of propionic acidemia in 78 pregnancies

Fetus No.

Variants of the proband

Variants of fetus

Metabolite of amniotic fluid

(PCCA: NM_000282.3; PCCB: NM_000532.3)

MS/MS

GS/MS

Gene

Paternal

Maternal

Fetus status

Variants origin

C3 (μmol/L)

C3/C2

3HPA (mmol/mol Cr)

MCA (mmol/mol Cr)

F008

PCCA

c.1429 + 2 T > C

Exon6del

ND

ND

5.87

0.24

3.75

0.00

F042

PCCA

c.2002G > A [21]

c.872C > T [22]

Normal

–

2.06

0.07

41.28

0.00

F043

PCCA

ND

c.1284 + 1G > A [23]

ND

ND

2.77

0.17

44.42

0.19

F053

PCCA

c.1330dup

c.803G > T

Carrier

Paternal

5.00

0.18

4.93

0.00

F044

PCCB

c.224A > C [16]

ND

ND

ND

1.040

0.07

80.65

0.00

F014

ND

ND

ND

ND

ND

1.01

0.08

43.86

0.00

F020

ND

ND

ND

ND

ND

0.92

0.12

2.37

0.52

Reference range

     

< 5.0

< 0.3

< 35

< 0.5

  1. Elevated metabolites are shown in bold
  2. ND Not determined, C3 Propionylcarnitine, C3/C2 C3/ acetylcarnitine (C2), 2MCA 2-methylcitric acid, 3HPA 3-hydroxypropionic acid, MS/MS Tandem mass spectrometry, GS/MS Chromatography/mass spectrometry