Application value of NIPT for uncommon fetal chromosomal abnormalities

Table 4 Analysis of 17 cases of fetal sex chromosome abnormality indicated by NIPT

No.	Age (years)	Gestational weeks	NIPT indication	NIPT results	Karyotype results
1	32	17⁺¹	Only NIPT	45,X	No abnormalities
2	34	14⁺⁶	Only NIPT	45,X	No abnormalities
3	22	23⁺³	Only NIPT	47,XYY	No abnormalities
4	19	17⁺⁴	Abnormal AFP MOM	45,X	45,X[78]/46,XX[22]
5	34	17⁺¹	Serological screening indicated low risk	45,X	45,X
6	38	20⁺⁴	Abnormal AFP MOM	47,XXY	47,XXY
7	32	16⁺¹	Abnormal PAPP-A MOM	45,X	45,X
8	18	17⁺⁶	Only NIPT	45,X	45,X
9	35	14⁺³	Only NIPT	47,XXY	47,XXY
10	36	17⁺¹	Advanced maternal age	45,X	No abnormalities
11	35	15⁺⁰	Only NIPT	47,XXY	47,XXY
12	29	22⁺¹	Only NIPT	45,X	No abnormalities
13	34	17⁺³	Only NIPT	47,XXY	47,XXY
14	41	12⁺⁴	Advanced maternal age	47,XXY	47,XXY
15	30	18⁺⁴	Only NIPT	45,X	No abnormalities
16	41	16⁺³	Advanced maternal age	47,XXY	47,XXY
17	19	19⁺¹	High risk of trisomy 21	47,XXY	47,XXY

NIPT noninvasive prenatal testing, MoM multiple of the median, AFP alpha fetoprotein, PAPP-A pregnancy associated plasma protein-A

ISSN: 1755-8166