Table 2 Fetal genotyping for rs6528633... | American Society of Hematology

Table 2

Fetal genotyping for rs6528633 in maternal plasma by digital RMD

Sample	Gestation, wks	SNP genotype*		Digital PCR result			Fetal %‡	m§	SPRT classification¶
Sample	Gestation, wks	Mother	Fetus	Total wells	A count†	T count†	Fetal %‡	m§	SPRT classification¶
M5193P	173/7	AT	A	4590	410	335	7.5	0.09	A
M5280P	174/7	AT	A	4590	204	144	10.7	0.05	A
M5269P	192/7	AT	T	4590	337	409	11.2	0.08	T
M5297P	193/7	AT	A	13 770‖	1482	1368	5.4	0.11	A
M5244P	226/7	AT	T	4590	139	163	8.5	0.03	T
M5240P	382/7	AT	T	4590	396	484	23.7	0.09	T
M5241P	382/7	AT	T	4590	706	920	13.9	0.17	T
M4817P	384/7	AT	A	4590	502	425	17.2	0.12	A
M4847P	393/7	AT	A	4590	379	312	14.9	0.09	A
M4846P	40	AT	A	4590	700	516	17.5	0.17	A

Sample	Gestation, wks	SNP genotype*		Digital PCR result			Fetal %‡	m§	SPRT classification¶
Sample	Gestation, wks	Mother	Fetus	Total wells	A count†	T count†	Fetal %‡	m§	SPRT classification¶
M5193P	173/7	AT	A	4590	410	335	7.5	0.09	A
M5280P	174/7	AT	A	4590	204	144	10.7	0.05	A
M5269P	192/7	AT	T	4590	337	409	11.2	0.08	T
M5297P	193/7	AT	A	13 770‖	1482	1368	5.4	0.11	A
M5244P	226/7	AT	T	4590	139	163	8.5	0.03	T
M5240P	382/7	AT	T	4590	396	484	23.7	0.09	T
M5241P	382/7	AT	T	4590	706	920	13.9	0.17	T
M4817P	384/7	AT	A	4590	502	425	17.2	0.12	A
M4847P	393/7	AT	A	4590	379	312	14.9	0.09	A
M4846P	40	AT	A	4590	700	516	17.5	0.17	A

PCR indicates polymerase chain reaction; RMD, relative mutation dosage; SNP, single-nucleotide polymorphism; and SPRT, sequential probability ratio test.

SNP genotypes were determined by mass spectrometry.

†

A count indicates number of wells positive for the A allele; and T count, number of wells positive for the T 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.

‖

M5297P was unclassifiable by SPRT with data from the first 4590-well digital PCR set. Two additional 4590-well digital PCR sets were performed after which classification could be made.

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