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. 2021 Mar 25;12(4):478. doi: 10.3390/genes12040478

Table A3.

Prenatal diagnosis for NIPS false negative cases and follow-up study.

No. NIPS-
Results		 GA Karyotyping-Fetus SNP Microarray-Fetus Size(Mb) PC 1 Category 2 Pregnancy Outcome 3 Phenotypes
Part 1: Twenty-four cases with common trisomies, SCAs and CNVs (≥5 Mb) and RATs were confirmed (n = 24)
1. Low-risk 16 46,der(21;21)(q10;q10),+21 arr(21)x3 P (1) FN Adverse fetal duodenal atresia
2. Low-risk 22 47,XN,+21 unconfirm P (1) FN Liveborn congenital heart disease, respiratory infections and special face
3. Low-risk 12 47,XN,+21 unconfirm P (1) FN Liveborn fetal polyhydramnios, special face
4. Low-risk 12 47,XN,+18 arr(18)x3 P (1) FN Adverse fetal congenital heart disease, increased nuchal fold, overlapping hand, hygroma
5. Low-risk 18 unconfirm arr(X)x1~2 P (2) FN Adverse ― 4
6. Low-risk 16 unconfirm arr(X)x1~2 P (2) FN Adverse ―
7. Low-risk 14 failed arr(Y)x0~1 P (2) FN Adverse fetal enlargement of posterior fossa
8. Low-risk 14 unconfirm arr16q13.13(12323566-12551122)x3;
arr16p13.12(13662679-14219837)x3;
arr18p11.32p11.31(12842-6588865)x1		 0.23 0.56 6.58 P (3) FN Adverse fetal renal dysplasia, polyhydramnios
9. Low-risk 17 47,XN,1qh+,+der(22)t(11;22)(q23;q11) arr11q23.3q25(116728277-134944006)x3;
arr22q11.1q11.21(16079545-20305944)x3		 18.22 4.23 P (3) FN Adverse fetal dysgenesis of the corpus callosum, ventriculomegaly
10. Low-risk 13 46,XN,del(6)(q14.3q22.1) arr6q14.3q22.1(87977775-115590427)x1 27.61 P (3) FN Adverse fetal congenital heart disease
11. Low-risk 15 46,XN arr6q25.1q27(151602119-1645553480x2 hmz 1493.95 VOUS (3) FN Liveborn fetal arrhythmia,
normal neonate/infancy period
12. Low-risk 16 46,XN arr5q11.2q12.1(56368573-61428613)x1 5.06 LP (3) FN Liveborn fetal cardiac abnormality
congenital heart disease
13. Low-risk 19 46,XN arr2q11.1q11.2(95537501-98658823)x2,hmz;
arr16q21q23.2(79092703-90148796)x2,hmz		 3.12 11.06 VOUS (3) FN Liveborn fetal cerebral ventriculomegaly, normal neonate/infancy period
14. Low-risk 13 unconfirm arrq22.31q23.1(119,443,290-130,985,191)x2,hmz 11.54 VOUS (3) FN Liveborn fetal choroid plexus cysts
normal neonate/infancy period
15. Low-risk 14 46,XN arr2q31.1q32.1(171500167-187802572)x2, hmz 16.30 VOUS (3) FN Liveborn normal neonate/infancy period
16. Low-risk 17 arr11p15.5p15.3(204228-10760363)x2,hmz 10.56 LP (3) FN Liveborn normal neonate/infancy period
17. Low-risk 17 46,XN arr14q32.13q32.33(95423213-105463936)x2, hmz 10.04 LP (3) FN Adverse ―
18. Low-risk 16 unconfirm arr10q26.3(131642219-135430043)x2,hmz;
13q14.11q21.33(43207878-71161023)x2,hmz;
arr17p11.2(18851012-22175355)x2,hmz;
arr17q11.1q12(25402163-34272942)x2,hmz		 3.79 27.95 3.32 8.87 VOUS (3) FN Liveborn normal neonate/infancy period
19. Low-risk 17 46,XN arr20q11.21q13.12(29846402-45461021)x2,hmz 15.61 VOUS (3) FN Adverse fetal congenital heart disease
20. Low-risk 16 unconfirm arr14q21.3q24.1(49351716-70190601)x2,hmz 20.84 VOUS (3) FN Liveborn fetal renal dysplasia, ectopic kidney
21. Low-risk 22 unconfirm arr2p13.3p11.2(69173570-84392155)x2,hmz 15.22 VOUS (3) FN Liveborn/low weight fetal hydronephrosis, atresia of anus and rectum, developmental delay, short stature
22. Low-risk 16 unconfirm arr7q21.11q22.2(82214954-104112216)x2;
arr8p12p11.21(35424457-41204995)x2;
arr17q25.3(76142795-79173184)x2		 21.90 5.78 3.03 VOUS (3) FN Liveborn normal childhood
23. Low-risk 18 46,XN arr7p22.3p22.1(62643-6054987)x3;
arr18q23(77336836-78014582)x1		 5.99 0.68 P (3) FN Adverse fetal separation of renal pelvis
24. Low-risk 30 47,XX,+22[2]/46,XX[48] arr(22)x2~3 P (4) FN Liveborn congenital heart disease, polydactyly, deafness
Part 2: Twenty-nine cases with CNVs (<5 Mb, lower detection limit of NIPS) were confirmed (n = 29)
25. Low-risk 12 46,XN arr13q31.3(93506864-94240082)x3;
arr16p11.2(29634212-30192561)x1		 0.73 0.56 P (5) Adverse renal agenesis
26. Low-risk 17 46,XX arr16p11.2(29656093-30328317)x1 0.67 P (5) Liveborn renal agenesis
27. Low-risk 37 46,XY arr6q16.3(103467436-103669065)x1 0.20 LB (5) Liveborn normal neonate/infancy period
28. Low-risk 14 46,XX arrXp22.31 (6516735-8131442)x3 1.61 VOUS (5) Adverse ―
29. Low-risk 14 46,XY arr16p13.11(15126890-16289532)x3 1.16 VOUS (5) Liveborn normal neonate/infancy period
30. Low-risk 14 46,XY arr21q21.2(24936629-26661518)x1 1.72 VOUS (5) Adverse neck neoplasm
31. Low-risk 17 46,XX arr16p13.3(216516-271712)x0 0.06 P (5) Adverse ―
32. Low-risk 16 46,XY arr22q11.21(18,877,787-21,798,907)x1 2.92 P (5) Adverse congenital heart disease
33. Low-risk 12 unconfirm arr16p13.3(217411-257548)x0 0.04 P (5) Adverse fetal thickening of nuchal translucency
34. Low-risk 15 46,XY arr22q11.21(20740778-21445064)x1 0.70 P (5) Liveborn congenital heart disease
35. Low-risk 17 46,XY arr10p12.31(19026841-21207377)x3 2.18 VOUS (5) Liveborn fetal hydronephrosis,
normal neonate/infancy period
36. Low-risk 18 unconfirm arr1q41(222991420-223276713)x1 0.29 VOUS (5) Liveborn fetal single umbilical artery,
normal neonate/infancy period
37. Low-risk 20 unconfirm arr4q34.3(178160858-179872123)x3 1.71 VOUS (5) Adverse fetal ventricular bright spot, cardiac abnormality
38. Low-risk 17 46,XX,1qh+ arr5q35.3(177410416-180554812)x2-3 3.14 VOUS (5) Liveborn fetal left ventricular bright spot, hyperechogenic bowel,
normal neonate/infancy period
39. Low-risk 19 46,XX arr17p11.2(16705818-18775900)x1 2.07 P (5) Adverse Fetal cerebral ventriculomegaly
40. Low-risk 17 46,XY arr6q26(162236682-162799117)x1 0.56 VOUS (5) Liveborn normal neonate/infancy period
41. Low-risk 16 unconfirm arr3p21.1(52880740-54205850)x3 1.33 VOUS (5) Adverse fetal congenital heart disease
42. Low-risk 17 46,XY arr22q11.21(18889490-21462353)x1 2.57 P (5) Liveborn congenital heart disease
43. Low-risk 14 unconfirm arr5q23.1q23.2(119816120-121644484)x3 1.83 VOUS (5) Liveborn
/low weight		 normal neonate/infancy period
44. Low-risk 16 46,XY arr16p13.3(216050-286982)x0 0.07 P (5) Adverse fetal severe thalassemia and hydrops
45. Low-risk 18 46,XY arr8p22(15743626-16882361)x3 1.14 VOUS (5) Adverse fetal cleft lip and palate
46. Low-risk 20 unconfirm arrYp11.31p11.2(2878213-6616258)x2 3.74 VOUS (5) Adverse ―
47. Low-risk 17 46,XY arr6q16.3(103467436-103669065)x1 0.20 LB (5) Liveborn fetal left ventricular bright spot,
normal neonate/infancy period
48. Low-risk 23 46,XX arr17q12(34815551-36249565)x1 1.43 P (5) Adverse fetal polycystic kidney
49. Low-risk 15 unconfirm arr16p13.3(230,578-381,927)x0 0.15 P (5) Adverse fetal cardiac abnormality, severe thalassemia and hydrops
50. Low-risk 15 46,XX arr1q21.1q21.2(146501348-148349952)x3 1.85 P (5) Adverse ―
51. Low-risk 17 unconfirm arr16p13.3(216738-420907)x0 0.20 P (5) Adverse fetal hydrops
52. Low-risk 17 46,XX arr15q11.2q13.1(23683301-28544359)x1 4.86 P (5) Adverse fetal single umbilical artery
53. Low-risk 18 failed arr11p14.3(23337714-24690002)x1 1.35 VOUS (5) Adverse fetal cardiac abnormality, hydrops

NIPS, noninvasive prenatal screening; TP, true positive; FP, false positive; GA, gestational age; SCAs, sex chromosome abnormalities; CNVs, copy number variants (≥5 Mb); RATs, rare autosomal aneuploidies. 1 PC, pathogenic classification. P, pathogenic; LP, like pathogenic; VOUS, variants of uncertain significance; LB, like benign. 2 The chromosome polymorphism variations (diagnosed by karyotype) were not included in the statistics. (1) FN, T21/T18/T13; (2) FN, Monosomy X; (3) FN, CNVs ≥ 5 Mb; (4) FN, RAT; (5) CNVs < 5 Mb (lower detection limit of NIPS). 3 Adverse, including stillbirth, miscarriage and opted to termination of pregnancy. 4―, Lost follow-up.