Table 4 Noninvasive detection of fetal... | American Society of Hematology

Table 4

Noninvasive detection of fetal hemophilia mutations in maternal plasma by digital RMD

Plasma sample	Fetal hemophilia status	Digital PCR result			Fetal %†	m_r‡	SPRT classification§
Plasma sample	Fetal hemophilia status	Total wells	Mutant count*	Wild-type count*	Fetal %†	m_r‡	SPRT classification§
H9	Affected	4590	1022	801	14.8	0.19	Mutant
H26a	Unaffected	9180	1590	1710	3.8	0.21	Wild-type
H26b	Unaffected	4590	590	650	6.8	0.15	Wild-type
H15a	Affected	4590	573	435	10.5	0.10	Mutant
H15b	Affected	4590	2506	1956	10.7	0.56	Mutant
H17	Unaffected	4590	329	342	14.0	0.08	Wild-type
H30a	Unaffected	4590	611	780	18.2	0.19	Wild-type
H30b	Unaffected	4590	1839	2017	11.4	0.58	Wild-type
H25a	Affected	9180	1160	1108	4.6	0.13	Mutant
H25b	Affected	4590	223	166	15.0	0.04	Mutant
H12a	Affected	9180	511	464	9.0	0.05	Mutant
H12b	Affected	4590	293	230	25.1	0.05	Mutant

Plasma sample	Fetal hemophilia status	Digital PCR result			Fetal %†	m_r‡	SPRT classification§
Plasma sample	Fetal hemophilia status	Total wells	Mutant count*	Wild-type count*	Fetal %†	m_r‡	SPRT classification§
H9	Affected	4590	1022	801	14.8	0.19	Mutant
H26a	Unaffected	9180	1590	1710	3.8	0.21	Wild-type
H26b	Unaffected	4590	590	650	6.8	0.15	Wild-type
H15a	Affected	4590	573	435	10.5	0.10	Mutant
H15b	Affected	4590	2506	1956	10.7	0.56	Mutant
H17	Unaffected	4590	329	342	14.0	0.08	Wild-type
H30a	Unaffected	4590	611	780	18.2	0.19	Wild-type
H30b	Unaffected	4590	1839	2017	11.4	0.58	Wild-type
H25a	Affected	9180	1160	1108	4.6	0.13	Mutant
H25b	Affected	4590	223	166	15.0	0.04	Mutant
H12a	Affected	9180	511	464	9.0	0.05	Mutant
H12b	Affected	4590	293	230	25.1	0.05	Mutant

PCR indicates polymerase chain reaction; RMD, relative mutation dosage; SPRT, sequential probability ratio test.

Mutant count, number of wells positive for the mutant allele. Wild-type count, number of wells positive for the wild-type allele.

Fetal DNA proportions were determined by the digital ZFY/X assay.

Average reference template concentration per PCR well. The reference template referred to the allele with the lesser count in each sample.

Classification of fetal genotypes by SPRT.