Table 1.

The results of noninvasive prenatal testing using digital PCR.

Family	Probe	dPCR method	Sample	Total droplet	Mutant read	Total read	Corresponding histogram	Sum of mutant read	Sum of total read	Bayes factor
SH197	GJB2 c.235delC	picodroplet dPCR	Wildtype control	4407215	11488	23677	Fig. 2(A)	11488	23677	0.000
			Heterozygote control	4345442	11437	23111	Fig. 2(B)	24188	48629	0.001
				4708179	12751	25518	Fig. 2(C)
			Homozygote control	4617876	14615	28368	Fig. 2(D)	28844	56045	3488318818.000
				4630734	14229	27677	Fig. 2(E)
			Maternal plasma DNA	3718365	149	342	Fig. 2(F)	344	786	-
				4441402	195	444	Fig. 2(G)
SB275	GJB2 c.235delC	picodroplet dPCR	Wildtype control	4152941	1355	2801	Supplementary Figure S3(A)	2729	5650	0.000
				4236265	1374	2849	Supplementary Figure S3(B)
			Heterozygote control	4140496	1261	2537	Supplementary Figure S3(C)	1261	2537	0.083
			Homozygote control	3875232	1424	2771	Supplementary Figure S3(D)	2980	5781	4.802
				4174746	1556	3010	Supplementary Figure S3(E)
			Maternal plasma DNA	4357569	521	981	Supplementary Figure S3(F)	1068	2007	14.885
				4410222	547	1026	Supplementary Figure S3(G)
SH162	SLC26A4 IVS7-2A > G	picodroplet dPCR, 1st trial	Wildtype control	4203431	2111	4487	Supplementary Figure S4(A)	3901	8294	0.000
				4044255	1790	3807	Supplementary Figure S4(B)
			Heterozygote control	4063047	2330	4663	Supplementary Figure S4(C)	2330	4663	0.070
			Homozygote control	4295362	2821	5335	Supplementary Figure S4(D)	5409	10227	3304799.523
				4061939	2588	4892	Supplementary Figure S4(E)
			Maternal plasma DNA	3460828	55	104	Supplementary Figure S4(F)	128	242	-
				4459482	73	138	Supplementary Figure S4(G)
		picodroplet dPCR, 2nd trial	Wildtype control	4164784	1622	3444	Supplementary Figure S5(A)	1622	3444	0.000
			Heterozygote control	3877366	1613	3243	Supplementary Figure S5(B)	3700	7381	0.065
				4627099	2087	4138	Supplementary Figure S5(C)
			Maternal plasma DNA	4040299	302	569	Supplementary Figure S5(D)	616	1160	2.889
				4130434	314	591	Supplementary Figure S5(E)
		chip-based dPCR, 1st trial	Wildtype control	15688	1474	3014	Supplementary Figure S6(A)	1474	3014	0.020
			Heterozygote control	17114	1597	3214	Supplementary Figure S6(B)	2911	5871	0.024
				14247	1314	2657	Supplementary Figure S6(C)
			Maternal plasma DNA	12516	135	257	Supplementary Figure S6(D)	135	257	-
		chip-based dPCR, 2nd trial	Wildtype control	14724	1600	3373	Supplementary Figure S7(A)	3302	6969	0.000
				14964	1702	3596	Supplementary Figure S7(B)
			Heterozygote control	16493	1930	3965	Supplementary Figure S7(C)	1930	3965	0.007
			Homozygote control	16809	2016	3853	Supplementary Figure S7(D)	4034	7693	1944.177
				16040	2018	3840	Supplementary Figure S7(E)
			Maternal plasma DNA	16253	65	115	Supplementary Figure S7(F)	139	246	-
				17601	74	131	Supplementary Figure S7(G)

Maternal gDNA artificially containing the gDNA components without and with homozygous mutation in 5.6%, respectively, was used as the wildtype and homozygote control. The first baby’s gDNA was used as the gDNA components with homozygous mutation. Maternal gDNA was used as the heterozygote control sample. If the total read count was less than 1,000, the Bayes factor was not calculated. dPCR, digital PCR; gDNA, genomic DNA.