Table 4.

Genetic variants, prenatal diagnosis, pregnancy decision-making and outcomes in ARCs

No	Disease	Gene	Inheritance pattern	Gender	Variants	Prenatal diagnosis	Pregnancy decision-making and outcomes
1	DMD	DMD	XL	Female	Exon14_17 Dup	Fetus did not carry the disease-causing variant	Term infant, male, normal
2	DMD	DMD	XL	Female	c.7555G > A (p.Asp2519Asn)	Reject	Term infant, female, normal
3	DMD	DMD	XL	Female	Exon43_44 Del	–	Unpregnant and plan to PGT-M
4	DMD	DMD	XL	Female	Exon28_29 Del	ND	TOP due to fetal structural abnormalities
5	DMD	DMD	XL	Female	Exon51_52 Del	Fetus was a carrier of the disease	Term infant, female, normal
6	DMD	DMD	XL	Female	Exon48_51 Del	Fetus was a carrier of the disease	Term infant, female, normal
7	DMD	DMD	XL	Female	Exon48_49 Del	Fetus did not carry the disease-causing variant	Term infant, female, normal
8	Hemophilia B	F9	XL	Female	c.479G > A (p.Gly160Glu)	ND	Spontaneous abortion occurred at 19 weeks of pregnancy
9	MUT-Related MMA	MMUT	AR	Female	c.1677-1G > A	Fetus was a carrier of the disease	Term infant, male, normal
				Male	c.914 T > C (p.Leu305Ser)
10	MUT-Related MMA	MMUT	AR	Female	c.1208G > A (p.Arg403Gln)	–	Birth of a normal boy through PGT-M
				Male	c.1106G > A (p.Arg369His)
11	MUT-Related MMA	MMUT	AR	Female	c.2179C > T (p.Arg727*)	–	No pregnancy plan
				Male	c.1677-1G > A
12	DFNB1A	GJB2	AR	Female	c.235del (p.Leu79Cysfs*3)	Reject	Term infant, female, normal
				Male	c.235del (p.Leu79Cysfs*3)
13	DFNB1A	GJB2	AR	Female	c.49_50del (p.Ser17Hisfs*30)	Reject	Keep pregnancy
				Male	c.235del (p.Leu79Cysfs*3)
14	DFNB4	SLC26A4	AR	Female	c.919-2A > G	Reject	term infant, normal
				Male	c.919-2A > G
15	DFNB4	SLC26A4	AR	Female	c.919-2A > G	Fetus did not carry the disease-causing variant	Term infant, female, normal
				Male	c.665G > T (p.Gly222Val)
16*	Hypophosphatasia, infantile/ childhood	ALPL	AR	Female	c.88C > T (p.Arg30*)	Fetus did not carry the disease-causing variant	Term infant, female, normal
				Male	c.1091_1092insGCAG (p.Ser364Argfs*42)
17	MMA, cblC type	MMACHC	AR	Female	c.609G > A (p.Trp203*)	Fetus was a carrier of the disease	Term infant, male, normal
				Male	c.80A > G (p.Gln27Arg)
18	SMA	SMN1	AR	Female	Exon7 Del	Reject	Term infant, female, normal
				Male	Exon7 Del
19	PKU	PAH	AR	Female	c.992 T > C (p.Phe331Ser)	Fetus was a carrier of the disease	Term infant, male, normal
				Male	c.1174 T > A (p.Phe392Ile)
20	Krabbe disease	GALC	AR	Female	c.461C > A (p.Pro154His)	Fraternal twins, one fetus was affected and the other was unaffected	TOP for the fetus with genetic abnormalities, the other unaffected one was born healthy
				Male	c.1901 T > C (p.Leu634Ser)

PGT-M preimplantation genetic testing for monogenic/single-gene disorders, ND not done, TOP termination of pregnancy

*The family was not pregnant at the time of testing, and a prenatal diagnosis was performed after a natural pregnancy through follow-up