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

Table 1 The prenatal results of genetic tests and biochemical analysis in the amniotic fluid samples of 13 affected fetuses

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)	2MCA (mmol/mol Cr)
F001	PCCA	c.1850 T > C [16]	c.1102G > C [16]	ND	ND	6.06	0.62	9.57	2.05
F009	PCCA	c.1429 + 2 T > C	Exon6del	Affected	Parental	43.69	1.33	21.20	1.27
F029	PCCA	c.1118 T > A [17]	c.1863delA	Affected	Parental	7.44	0.70	1.90	0.87
F069	PCCA	c.1118 T > A [17]	c.1118 T > A [17]	Affected	Parental	16.55	0.92	1.10	0.74
F034	PCCB	c.31_40del [18]	c.733G > A [16]	Affected	Parental	10.66	1.06	25.18	3.56
F035	PCCB	c.146delG [16]	c.838dupC [16]	Affected	Parental	11.45	1.00	8.36	4.58
F052	PCCB	c.838dupC [16]	c.167_179delinsC [16]	Affected	Parental	29.66	0.83	0.00	1.19
F060	PCCB	c.1228C > T [19]	c.838dupC [16]	Affected	Parental	13.33	2.11	3.65	1.04
F070	PCCB	c.1196C > G	Exon1-8del	Affected	Parental	25.10	1.21	2.94	0.62
F073	PCCB	c.1087 T > C [20]	c.1087 T > C [20]	Affected	Parental	10.15	0.69	0.00	1.15
F074	PCCB	c.1220del	c.167_179delinsC [16]	Affected	Parental	5.07	0.63	0.00	0.61
F017	ND	ND	ND	ND	ND	9.40	1.43	1.51	2.73
F023	ND	ND	ND	ND	ND	15.83	1.39	5.02	2.32
Reference range						< 5.0	< 0.3	< 35

Elevated metabolites are shown in bold
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

ISSN: 1750-1172