表 1 血清学筛查高危组NIPT检测阳性结果及妊娠结局

表 1 血清学筛查高危组NIPT检测阳性结果及妊娠结局 Tab.1 Positive results of noninvasive prenatal genetic testing in serum screening high-risk group and the pregnancy outcomes

Serum screening	NIPT	Invasive prenatal diagnosis	Pregnancy outcome
Trisomy 21:1/14	High risk for abnormal chromosome 13	46, XN	Cesarean section
Trisomy 21:1/76	High risk for trisomy 21	47, XN, +21	Labor induction
Trisomy 18:1/50	High risk for trisomy 18	47, XN, +18	Labor induction
Trisomy 21:1/210	High risk for trisomy 21	47, XN, +21	Labor induction
Trisomy 21:1/20	High risk for trisomy 21	47, XN, +21	Normal delivery*
Trisomy 21:1/131	High risk for trisomy 21	47, XN, +21	Labor induction
Trisomy 18:1/90	High risk for trisomy 18	47, XN, +18	Labor induction
Trisomy 21:1/270	High risk for trisomy 13	46, XN	normal delivery
Trisomy 21:1/80	High risk for trisomy 21	47, XN, +21	Labor induction
Trisomy 21:1/56	High risk for trisomy 21	47, XN, +21	Labor induction
Trisomy 21:1/163	High risk for abnormal sex chromosome	45, X[25]/46, XX[25]	Cesarean section
Trisomy 21:1/40	High risk for trisomy 21	47, XN, +21	Labor induction
Trisomy 21:1/92	High risk for trisomy 21	47, XN, +21	Labor induction
Trisomy 21:1/62	High risk for abnormal sex chromosome	46, XN	Normal delivery
Trisomy 21:1/120	High risk for trisomy 21	47, XN, +21	Labor induction
Trisomy 21:1/240	High risk for trisomy 21	47, XN, +21	Labor induction
Trisomy 21:1/200	High risk for trisomy 21	47, XN, +21	Normal delivery
Trisomy 18:1/50	High risk for trisomy 18	47, XN, +18	Labor induction
Trisomy 21:1/250	High risk for abnormal sex chromosome	46, XN	Cesarean section
Trisomy 21:1/90	High risk for trisomy 21	46XN[14]/47, XN, +21[16]	Labor induction
Trisomy 21:1/30	High risk for trisomy 21	47, XN, +21	Labor induction
Trisomy 21:1/70	High risk for trisomy 21	47, XN, +21	Labor induction
Trisomy 21:1/7	High risk for trisomy 21	47, XN, +21	Labor induction
Trisomy 21:1/180	High risk for abnormal sex chromosome	46, XN	Cesarean section
Trisomy 21:1/260	High risk for trisomy 13	46, XN	Cesarean section
Trisomy 21:1/119	High risk for trisomy 21	47, XN, +21	Labor induction
Trisomy 21:1/248	High risk for abnormal sex chromosome	46, XN	Cesarean section
Trisomy 21:1/246	High risk for trisomy 18	47, XN, +18	Labor induction
Trisomy 21:1/98	High risk for trisomy 21	47, XN, +21	Labor induction
Trisomy 21:1/135	High risk for trisomy 21	47, XN, +21	Labor induction
Trisomy 21:1/5	High risk for trisomy 21	47, XN, +21	Labor induction
Trisomy 21:1/190	High risk for trisomy 21	47, XN, +21	Labor induction
Trisomy 21:1/243	High risk for trisomy 21	47, XN, +21	Labor induction
Trisomy 21:1/40	High risk for trisomy 21	47, XN, +21	Labor induction
Trisomy 21:1/260	High risk for abnormal sex chromosome	47, XXY	Labor induction
Trisomy 21:1/264	High risk for abnormal chromosome 9	46, XN; CNVs:3.8Mb deletion of9p24.2-24.1	Cesarean section
Trisomy 21:1/200	High risk for trisomy 13	46, XN	Normal delivery
Trisomy 21:1/50	High risk for trisomy 21	46, XN	Cesarean section
Trisomy 21:1/179	High risk for trisomy 21	46, XN	Normal delivery
Trisomy 21:1/143	High risk for trisomy 21	46, XN; CNVs(-)	Normal delivery
Trisomy 21:1/18	High risk for abnormal chromosome 2	46, XN	Labor induction after intrauterine death
Trisomy 21:1/88	High risk for abnormal chromosome 7	46, XN; CNVs(-)	Normal delivery
Trisomy 21:1/254	High risk for abnormal sex chromosome	46, XN	Normal delivery
Trisomy 21:1/147	High risk for abnormal sex chromosome	46, XN; CNVs(-)	Cesarean section
Trisomy 21:1/190	High risk for abnormal chromosome 7	46, XN	Cesarean section
Trisomy 21:1/89	High risk for abnormal sex chromosome	46, XN	Cesarean section
Trisomy 21:1/28	High risk for abnormal chromosome 7	46, XN	Normal delivery
Trisomy 18:1/4	High risk for trisomy 18	47, XN, +18	Labor induction
Trisomy 18:1/60	High risk for trisomy 18	47, XN, +18	Labor induction
Trisomy 18:1/5	High risk for abnormal chromosome 16	Karyotype:47, XN, +16[1]/46, XN[109]	Labor induction
Trisomy 21:1/145	High risk for abnormal chromosome 16	CNVs:47, XN, +16(35%)/46, XN(65%)	Labor induction
Trisomy 18:1:142	High risk for abnormal sex chromosome	45, X[29]/46, X, r(p11.2q26)[31]	Labor induction
Trisomy 18:1/25	High risk for abnormal chromosome 9	46, XN	Normal delivery
Trisomy 21:1/219	High risk for abnormal sex chromosome (maternal)	45, X, del(x)(p22.1)(Maternal Karyotype)	Cesarean section
^* The newborn suffered from anal atresia.

表 2 血清学筛查临界风险组NIPT检测阳性结果及妊娠结局

表 2 血清学筛查临界风险组NIPT检测阳性结果及妊娠结局 Tab.2 Positive results of noninvasive prenatal genetic testing in serum screening critical-risk group and the pregnancy outcomes

Serum screening	NIPT	Invasive prenatal diagnosis	Pregnancy outcome
Trisomy 21:1/720	High risk for trisomy 18	46, XN	Normal delivery
Trisomy 21:1/642	High risk for trisomy 18	46, XN	Normal delivery
Trisomy 21:1/797	High risk for abnormal chromosome 13	46, XN	Cesarean section
Trisomy 21:1/350	High risk for trisomy 21	47, XN, +21	Labor induction
Trisomy 21:1/279	High risk for trisomy 21	47, XN, +21	Labor induction
Trisomy 21:1/429	High risk for trisomy 21	47, XN, +21	Labor induction
Trisomy 21:1/370	High risk for abnormal chromosome 7	46, XN	Normal delivery
Trisomy 21:1/569	High risk for trisomy 21	47, XN, +21	Labor induction
Trisomy 21:1/280	High risk for trisomy 21	47, XN, +21	Labor induction
Trisomy 21:1/390	High risk for trisomy 21	47, XN, +21	Labor induction
Trisomy 21:1/289	High risk for abnormal sex chromosome	47, XXX	Rejected to afford information
Trisomy 21:1/292	High risk for trisomy 18	46, XN	Cesarean section
Trisomy 21:1/720	High risk for abnormal sex chromosome	47, XN, +mar	Labor induction
Trisomy 21:1/314	High risk for abnormal sex chromosome	47, XXX	Labor induction
Trisomy 21:1/280	High risk for trisomy 21	47, XN, +21	Labor induction
Trisomy 21:1/356	High risk for trisomy 13	46, XN	Normal delivery
Trisomy 21:1/287	High risk for abnormal sex chromosome	46, XN; CNVs(-)	Cesarean section
Trisomy 21:1/548	High risk for abnormal sex chromosome	46, XN	Normal delivery
Trisomy 21:1/310	High risk for abnormal sex chromosome	46, XN; CNVs(-)	Normal delivery
Trisomy 21:1/440	High risk for abnormal sex chromosome	46, XN	Cesarean section
Trisomy 21:1/578	High risk for abnormal sex chromosome	46, XN	Cesarean section
Trisomy 21:1/385	High risk for abnormal sex chromosome	46, XN	Cesarean section
Trisomy 21:1/469	High risk for abnormal chromosome 7	46, XN	Normal delivery
Trisomy 21:1/275	High risk for abnormal chromosome 8	46, XN	Cesarean section
Trisomy 21:1/630	High risk for abnormal chromosome 9 and 11	46, XN; CNVs(-)	normal delivery
Trisomy 21:1/500	High risk for trisomy 21	47, XN, +21	Labor induction
Trisomy 21:1/390	High risk for trisomy 21	47, XN, +21	Labor induction
Trisomy 21:1/310	High risk for trisomy 21	47, XN, +21	Labor induction
Trisomy 21:1/963	High risk for trisomy 21	47, XN, +21	Labor induction
Trisomy 21:1/323	High risk for trisomy 21	47, XN, +21	Labor induction
Trisomy 21:1/430	High risk for trisomy 21	47, XN, +21	Labor induction
Trisomy 21:1/450	High risk for abnormal sex chromosome	47, XYY	Cesarean section
Trisomy 21:1/366	High risk for abnormal sex chromosome	45, X[4]/46, XN[76]	Labor induction
Trisomy 21:1/410	High risk for abnormal sex chromosome	47, XYY	Labor induction
Trisomy 21:1/481	High risk for abnormal chromosome 21	46, XN; CNVs :2.06Mb deletion of 21q21	Normal delivery
Trisomy 21:1/448	High risk for abnormal chromosome 7	46, XN; CNVs: 494kb deletion of chromosome 8	Normal delivery