Table 2.

Studies of healthy newborns that screened for leukemia translocations.

Study, year	N screened	N positive	% Positive	Population	Starting material	Age group	Screen	Detection method	Confirmation method	Estimated cell frequency
ETV6/RUNX1 [t(12;21)]
Eguchi-Ishimae, 2001 (62)	67	1	1.5	Japanese	Cord blood	Newborns	RNA	nRT-PCR
Mori, 2002 (63)	567	6	1.1	British	Frozen cord blood	Newborns	RNA	nRT-PCR, qRT-PCR	FISH	10−3 to 10−4
Lausten-Thomsen, 2010 (64)	256	0	0.0	Danish	Fresh cord blood	Premature newborns	RNA	qRT-PCR
Lausten-Thomsen, 2011 (65)	1,417	0	0.0	Danish	Fresh cord blood	Newborns	RNA	qRT-PCR	qRT-PCR
Zuna, 2011 (66)	253	5	2.0	Czech	Cord blood	Newborns	RNA	qRT-PCR	FISH
Olsen, 2012 (67)	1,258	3	0.2	Danish	Fresh cord blood	Newborns	RNA	qRT-PCR	Sanger	< 10−4
Ornelles, 2015 (68)	210	5	2.4	United States	Fresh cord blood	Newborns	RNA	nRT-PCR	Sanger	≤ 10−5
Kosik, 2017 (including Skorvaga et al.) (69)	500	nr	2.4	Slovak	Cord blood	Newborns	RNA	qRT-PCR	qRT-PCR and Sanger	≤ 10−5
Schafer, 2018 (70)	1,000	50	5.0	Danish	Frozen cord blood	Newborns	DNA	GIPFEL	Sanger	10−2 to 10−5*
KMT2A/AFF1 [t(4;11)]
Zuna, 2011 (66)	103	0	0.0	Czech	Cord blood	Newborns	RNA	RT-PCR
Kim-Rouille, 1999 (71)	60	0	0.0	nr	Cord blood	Newborns	RNA	RT-PCR	Sanger
Kosik, 2017 (including Skorvaga et al.) (69)	500	nr	0.8	Slovak	Frozen cord blood	Newborns	RNA	qRT-PCR	qRT-PCR and Sanger
BCR/ABL [t(9;22)]
Zuna, 2011 (66)	103	0	0.0	Czech	Cord blood	Newborns	RNA	RT-PCR
Kosik, 2017 (including Skorvaga et al.) (69)	500	nr	5.0	Slovak	Frozen cord blood	Newborns	RNA	qRT-PCR	qRT-PCR and Sanger
RUNX1/RUNX1T1 [t(8;21)]
Mori, 2002 (63)	496	1	0.2	British	Frozen cord blood	Newborns	RNA	nRT-PCR, qRT-PCR	FISH
TCF3/PBX1 [t(1;19)]
Hein, 2019 (72)	340	2	0.6	Danish	Frozen cord blood	Newborns	DNA	GIPFEL	RT-PCR and Sanger

nr, not reported; FISH, fluorescence in situ hybridization.

^*Among sorted CD19+ cells.