Table 3.

PGD results

Case	STS markers tested/informative markers	STR informativeness rate	Embryos analyzed	Affected embryo amount	Carrier embryo amount	Mutation free embryo amount	Direct mutation testing	aCGH performed	aCHG result	Overall PGT result
HTT-case	13/6	0.46	7	1; 0.14	NA	6; 0.85	yes	Performed for 2 embryos, scored highest according to ES algorithm	1 aneuploid, 1 euploid	eSET > healthy noncarrier baby born (postnatal confirmatory analysis)
ACTA2-case	18/7	0.39	9	4; 0.44	NA	5; 0.55	yes	Performed for all mutation-free embryos	4 euploid, 1 aneuploid	eSET > clinical pregnancy
TPP1-case	15/10	0.67	3	1; 0.33	1; 0.33	1; 0.33	yes	Performed for only one mutation-free embryo	Euploid	eSET > clinical pregnancy
ALOX12B-case	15/13	0.87	12	3; 0.25	7; 0.58	2; 0.17	yes	Performed for one embryo, scored highest according to the ES algorithm	Euploid	eSET > healthy noncarrier baby born (postnatal confirmatory analysis)
DMD-case 1	21/11	0.52	9	4; 1.5	1; 0.11	4; 0.44	no	PGD by aCGH performed initially when molecular analysis was unavailable; later all stored WGAs were subjected to haplotype analysis	5 euploid, 4 aneuploid	eSET > healthy carrier baby born (postnatal indirect linkage confirmatory analysis), second eSET > failed implantation
DMD-case 2	16/7	0.44	17	3; 0.18	5; 0.29	9; 0.52	yes	Performed for 9 mutation-free embryos	6 euploid, 3 aneuploid	Waiting for eSET
GLB1-case	15/8	0.53	5	0; 0	4; 0.8	1; 0.2	yes	Performed for all 5 embryos	2 euploid, 3 aneuploid	Waiting for eSET (carrier embryo)
MTM1-case	14/7	0.50	No oocytes were successfully fertilized					Pregnancy rate		0.83
KRT14-case	17/7	0.41	Ovary stimulation still to be performed
	Average	0.53	9.5

ES EmbryoScope time-lapse incubator, eSET elective single embryo transfer