Table 5.

Pregnancy outcomes of the total cohort

Pregnancy outcomes	Cases with normal chromosomes		Cases with chromosomal aberrations
		Trisomy 21		Trisomy 18	Trisomy 13	Sex chromosome aneuploidy	Variants of pathogenic or likely pathogenic	Variants of benign or likely benign	Variants of unknown significance
Live birth with normal phenotype	72	0		0	0	0	0	0	0
Live birth with abnormal phenotype	6a	0		0	0	0	1c	0	3e
Termination of pregnancy	18b	3		5	1	1	8	1	3f
Continuation of pregnancy	3	0		0	0	0	1d	0	0
Lost to follow-up	5	0		0	0	0	0	0	0
Total	104	3		5	1	1	10	1	6

a: 6 cases were all with TE only; b: 16 cases underwent induced abortion due to severe malformation, and two cases resulted in miscarriage; c: Case 6 in Table 2; d: case 1 in Table 2; e: Case14 in Table 2, case 15 and 16 in Table 3; f: Case12 and 13 in Table 2, case 17 in Table 3