Application of chromosomal microarray analysis in products of miscarriage

Table 2 Detailed spectrum of genomic imbalances in products of conception

Genomic imbalances			ART	NC	Without APHs	With APHs		13–19 + 6GWs	<13GWs	Total
Genomic imbalances			ART	NC	Without APHs	A	B	13–19 + 6GWs	<13GWs	Total
Single aneuploidy	Autosomal trisomy	2	2	3	5	0	0	0	5	5
		3	0	2	2	0	0	1	1	2
		4	1	3	1	1	2	0	4	4
		5	1	0	1	0	0	0	1	1
		6	0	1	0	1	0	0	1	1
		7	3	3	5	1	0	0	6	6
		8	2	3	4	1	0	0	5	5
		9	1	1	2	0	0	0	2	2
		10	1	1	2	0	0	0	2	2
		11	1	1	1	0	1	0	2	2
		12	1	1	1	1	0	0	2	2
		13	1	9	3	5	2	1	9	10
		14	0	1	0	1	0	0	1	1
		15	6	5	6	3	2	0	11	11
		16^a	15	18	19	4	10^a	1	32	33
		18	3	4	4	1	2	3	4	7
		20	3	4	5	1	1	0	7	7
		21	6	6	11	1	0	2	10	12
		22	13	16	23	3	3	1	28	29
	Other aneuploidy	monosomy 21	3	1	4	0	0	0	4	4
		monosomy X	13	13	17	3	6	5	21	26
		XXY	0	1	0	0	1	0	1	1
CNV		CNV	7	9	11	2	3	1	15	16
Multiple aneuploidy		Double trisomy	7	3	7	2	1	0	10	10
Multiple aneuploidy		Trisomy 22 with monosomy X	2	0	2	0	0	0	2	2
Triploidy	triploidy	triploidy	3	10	9	3	1	3	10	13
	Hyper-triplody	Triploidy with tetrasomy X	0	1	1	0	0	0	1	1
		Triploidy with tetrasomy 16	0	1	1	0	0	0	1	1
		Triploidy with tetrasomy 8 and 14	0	1	0	0	1	0	1	1
	Hypo-triplody	Triploidy with disomy13	0	2	0	1	1	0	2	2
UPD		UPD	0	2	0	2	0	0	2	2
Mosaicism		Mosaic trisomy 6	1	0	1	0	0	0	1	1
		Trisomy 16 with mosaic trisomy 13	1	0	1	0	0	0	1	1
		Mosaic trisomy 18	1	0	0	1	0	0	1	1
Total abnormal			98	126	149	38	37	18	206	224

A: subgroup A, POC samples of women who experienced more than two previous pregnancies with adverse outcome; B: subgroup B, POC samples of women who experienced one adverse pregnancy history
ART assisted reproductive treatment, NC natural conception, APHx adverse pregnancy history, GW gestational week, CNV copy number variance, UPD uniparental disomy
^a two cases were trisomy-16 with CNVs

ISSN: 1755-8166