Table 1 The results of noninvasive prenatal testing using picodroplet digital PCR.

From: Development of novel noninvasive prenatal testing protocol for whole autosomal recessive disease using picodroplet digital PCR

Family	Probe	Sample	Intact drops	Wild type	Mutant (SNP)	Corresponding histogram	Fraction of a mutant sequence over the wildtype+mutant sequence at the mutant residue(SNP)	Mean fraction of a mutant sequence over the wildtype+mutant sequence at the mutant residue(SNP) (±SD)
The first family	Paternal mutation, SLC26A4 c.1529 T > A (p.V510D)	Maternal plasma DNA	4679781	1845	64	Figure 3(A)	0.0335	0.0319 ± 0.0023
		Maternal plasma DNA	4315445	1921	60	Figure 3(B)	0.0303	0.0319 ± 0.0023
		Positive control (maternal gDNA + 6.4% 1st baby gDNA)	4715315	5421	135	Figure 3(C)	0.0243	0.0267 ± 0.0033
		Positive control (maternal gDNA + 6.4% 1st baby gDNA)	4746722	5988	179	Figure 3(D)	0.0290	0.0267 ± 0.0033
		Negative control (plasma DNA from the subject who has no paternal mutation)	3911735	4515	7	Figure 3(E)	0.0015	0.0015
	Maternal mutation, SLC26A4 c.2168 A > G (p.H723R)	Maternal plasma DNA	4515957	973	854	Supplementary Figure S3(A)	0.4674	0.4557 ± 0.0130
			4236100	1076	909	Supplementary Figure S3(B)	0.4579
			5012319	1464	1158	Supplementary Figure S3(C)	0.4416
		Positive control (maternal gDNA + 6.4% 1st baby gDNA)	3961002	1480	1481	Supplementary Figure S3(D)	0.5002	0.4939 ± 0.0070
			3749613	1413	1411	Supplementary Figure S3(E)	0.4996
			4234397	1661	1582	Supplementary Figure S3(F)	0.4878
			4296400	1648	1570	Supplementary Figure S3(G)	0.4879
		Negative control (maternal gDNA + 6.4% paternal gDNA)	4212043	1814	1561	Supplementary Figure S3(H)	0.4625	0.4685 ± 0.0040
			4249353	1735	1545	Supplementary Figure S3(I)	0.4710
			4161255	1687	1495	Supplementary Figure S3(J)	0.4698
			3703065	1514	1345	Supplementary Figure S3(K)	0.4704
The second family	Paternal mutation, GJB2 c.299_300delAT (p.H100Rfs*14)	Maternal plasma DNA	3789570	1190	93	Supplementary Figure S4(A)	0.0725	0.0725
		Positive control (maternal gDNA + 14.5% 1st baby gDNA)	4092063	3503	308	Supplementary Figure S4(B)	0.0808	0.0804 ± 0.0006
		Positive control (maternal gDNA + 14.5% 1st baby gDNA)	4383191	3599	313	Supplementary Figure S4(C)	0.0800	0.0804 ± 0.0006
		Negative control (plasma DNA from the subject who has no paternal mutation)	4570705	1185	1	Supplementary Figure S4(D)	0.0008	0.0002 ± 0.0004
			4234400	1004	0	Supplementary Figure S4(E)	0.0000
			4406461	1631	0	Supplementary Figure S4(F)	0.0000
			4534600	1719	0	Supplementary Figure S4(G)	0.0000
	Maternal mutation, GJB2 c.123 G > A (p.G45E)	Maternal plasma DNA Positive control (maternal gDNA + 14.5% 1st baby gDNA)	4265309	835	545	Supplementary Figure S5(A)	0.3949	0.3957 ± 0.0011
			4411174	656	431	Supplementary Figure S5(B)	0.3965	0.3957 ± 0.0011
			4686982	2702	2458	Supplementary Figure S5(C)	0.4764	0.4710 ± 0.0080
			3837244	2037	1862	Supplementary Figure S5(D)	0.4776
			4100991	2309	2049	Supplementary Figure S5(E)	0.4702
			4118807	2266	1931	Supplementary Figure S5(F)	0.4601
		Negative control (maternal gDNA + 14.5% paternal gDNA)	4365336	3050	2012	Supplementary Figure S5(G)	0.3975	0.3904 ± 0.0233
			4636365	3092	2241	Supplementary Figure S5(H)	0.4202
			3969051	2685	1605	Supplementary Figure S5(I)	0.3741
			3869329	2778	1630	Supplementary Figure S5(J)	0.3698
The third family	SNP exclusively for father, CDH23 c.366 T > C (p.V122V)	Maternal plasma DNA	2978242	2507	24	Supplementary Figure S6(A)	0.0095	0.0135 ± 0.0057
	SNP exclusively for father, CDH23 c.366 T > C (p.V122V)	Maternal plasma DNA	4199506	560	10	Supplementary Figure S6(B)	0.0175	0.0135 ± 0.0057
	Paternal and maternal mutation, GJB2 c.235delC	Maternal plasma DNA	1801793	155	107	Supplementary Figure S7(A)	0.4084	0.4794 ± 0.0473
			3003431	594	603	Supplementary Figure S7(B)	0.5038
			4617054	281	286	Supplementary Figure S7(C)	0.5044
			4602474	286	287	Supplementary Figure S7(D)	0.5009
The fourth family	Paternal mutation, GJB2 c.508_511dupAACG (p.A171Efs*40)	Maternal plasma DNA	4505527	899	41	Supplementary Figure S8(A)	0.0436	0.0423 ± 0.0019
		Maternal plasma DNA	4483070	820	35	Supplementary Figure S8(B)	0.0409	0.0423 ± 0.0019
		Positive control (maternal gDNA + 8.5% 1st baby gDNA)	4683171	5397	278	Supplementary Figure S8(C)	0.0490	0.0490
		Negative control (plasma DNA from the subject who has no paternal mutation)	4528755	867	0	Supplementary Figure S8(D)	0.0000	0.0000
			4551158	865	0	Supplementary Figure S8(E)	0.0000	0.0000
	Maternal mutation, GJB2 c.257 C > G (p.T86R)	Maternal plasma DNA	4517281	1019	894	Supplementary Figure S9(A)	0.4673	0.4662 ± 0.0015
		Maternal plasma DNA	4816064	1090	948	Supplementary Figure S9(B)	0.4652	0.4662 ± 0.0015
		Positive control (maternal gDNA + 8.5% 1st baby gDNA)	4733818	4660	4804	Supplementary Figure S9(C)	0.5076	0.5070 ± 0.0008
		Positive control (maternal gDNA + 8.5% 1st baby gDNA)	4648914	4529	4647	Supplementary Figure S9(D)	0.5064	0.5070 ± 0.0008
		Negative control (maternal gDNA + 8.5% paternal gDNA)	4475033	4588	4010	Supplementary Figure S9(E)	0.4664	0.4655 ± 0.0013
		Negative control (maternal gDNA + 8.5% paternal gDNA)	4730972	4962	4305	Supplementary Figure S9(F)	0.4646	0.4655 ± 0.0013

SNP, single nucleotide polymorphism; SD, standard deviation; gDNA, genomic DNA.

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Table 1 The results of noninvasive prenatal testing using picodroplet digital PCR.

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