Table 1.
Summary of studies evaluating the amplification and analysis outcomes of cell-free DNA in the SCM
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| Author, yr (Ref) | Number of samples | Amplification rate | Concordance rate | Discordance rate | Culture volume (µL) | Culture medium (single/2-stage) | Fertilization method | Manipulation of embryo | Culture time | Amplification method | WGA method |
| Kuznyetsov et al. , 2020 (29) | 47 | 100 (47/47) | 97.8 (45/47) | 2.2 (2/47) | 25 | 2 steps | ICSI | Cryopreservation on D4 | D4/D5/D6 | SurePlex (Illumina) | NGS |
| Chen et al. , 2022 (53) | 26 | 100 (26/26) | 80.8 (21/26) | 19.2 (5/26) | 10 | 2 steps | ICSI | Cryopreservation | D5/D6/D7 | MALBAC (Yikon) | NGS |
| Gombos et al. , 2021 (35) | 753 | 95–96 | - - | 20–40 | 2 steps | ICSI | Assisted hatching on D3 | D3 | MALBAC (Yikon) | NGS | |
| Huang et al. , 2022 (51) | 166 | 62.7 (104/166) | 59.6 (62/104) | 40.4 (42/104) | 30 | 2 steps | IVF and ICSI | Cryopreservation D3 | D5/D6/D7 | NICSInst Genomics (Yikon) | NGS |
| Shitara et al. , 2021 (31) | 20 | 95 (19/20) | 56.3 (9/16) | 43.7 (7/16) | - 2 steps | IVF | Cryopreservation on D5/D6 | D5/D6 | SurePlex (Illumina) | NGS | |
| Brouillet et al. , 2020 (54) | 3738 | 98 (3662/3738) | 87.2 | 12.8 | 30 | - ICSI | Cryopreservation on D3 | D3-D5/D6 | SurePlex (BlueGnome) | NGS | |
| Yeung et al. , 2019 (52) | 168 | 100 (26/26) | 87.8 (21/26) | 19.2 (5/26) | 10 | 2 steps | ICSI | Assisted hatching on D3 | D3-D5/D6 | SurePlex (Illumina) | NGS |
| Tsai et al. , 2022 (55) | 40 | 100 (40/40) | 67.7 (21/31) | 32.3 (10/31) | 30 | Single step | IVF/ICSI | Cryopreservation | D3-D5/D6 | MALBAC (Yikon) | NGS |
| Alteri et al. , 2023 (28) | 57 | 96.5 (55/57) | 33.3 (2/6) | - 15 | 2 steps | ICSI | Assisted hatching on D3 | D3-D5/D6 | Repli-G single-cell kit (Qiagen) | aCGH | |
| Xu et al. , 2016 (56) | 42 | 100 (42/42) | 85.7 (36/42) | 14.3 (6/42) | 30 | 2 steps | ICSI | Cryopreservation on D3 | D3-D5 | MALBAC (Yikon) | NGS |
| Jiao et al. , 2019 (30) | 62 | 100 (62/62) | 76.19 (16/21) | - 12 | - ICSI | Freeze-thaw. Laser collapse | D5/D6 | MALBAC (Yikon) | NGS | ||
| Feichtinger et al. , 2017 (57) | 22 | 81.8 (55/57) | 72.2 (13/18) | 27.8 (5/18) | 25 | Single step | ICSI | Cryopreservation on D3 | D1-D5/D6 | SurePlex (Illumina) | aCGH |
| Vera-Rodriguez et al. , 2017 (58) | 56 | 91.1 (51/56) | 33.3 (17/51) | - 20 | 2 steps | ICSI | Assisted hatching on D3 | D3-D5 | SurePlex + ReproSeq (Illumina) | NGS | |
| Rubio et al. , 2020 (44) | 1301 | 97.5 (79/80) | 78.2 (866/1108) | 137 false positive, 92 false negative | 10 | A single step or 2 steps | IVF/ICSI | Cryopreservation + cryopreservation on D3 | D6/D7 | - NGS | |
| Liu et al. , 2020 (59) | 88 | 90.9 (80/88) | 64.52 | 35.48 | 30 | Single step | ICSI | Cryopreservation | D1-D5 | MALBAC (Yikon) | NGS |
| Ho et al. , 2018 (60) | 41 | 92.5 (37/40) | 65 (26/40) | 8 false positive, 3 false negative | 25 | Single step | ICSI | Cryopreservation + assisted hatching on D3 | D3-D5 | PicoPlex (Rubicon) | NGS |
| Rubio et al. , 2019 (47) | 115 | 93.9 (108/115) | Overall: 7/78 (108/85) D5: 63 (27/17) D6/7: 84 (81/68) | 8 false positive, 1 false negative | 10 | Single step | IVF | - D4-D5/D6/D7 | ReproSeq (Life Technologies) | NGS | |
| Xu et al. , 2016 (50) | 170 | 97 | - - | 20–25 | 2 steps | ICSI | Cryopreservation | D3-D5/D6 | MALBAC (Yikon) | NGS | |
| Yin et al. , 2021 (48) | 75 | 80 (60/75) | 89.83 (53/59) | 10.17 (6/59) | 25 | 2 steps | IVF | Cryopreservation | D5 | ChromInst (Yikon) | NGS |
| Lledo et al. , 2018 (37) | 92 | 92.4 (85/92) | 74.6 (62/83) | 25.4 (21/83) | 20 | 2 steps | IVF | Assisted hatching on D3 | D5-D6 | SurePlex | NGS |
| Huang et al. , 2022 (51) | 52 | 92.3 (48/52) | 93.8 (45/48) | 6.2 (3/48) | 25 | Single step | ICSI | Assisted hatching on D3 | D4-D5/D6/D7 | Modified MALBAC (Yikon) | NGS |
| Cinnioglu et al. , 2023 (61) | 50 | 88 (44/50) | 78.9 (30/38) | 21 (8/38) | 30 | - - | - D5-D6 | Thermofisher | NGS | ||
| SCM: Spent culture medium, WGA: Whole-genome amplification, ICSI: Intracytoplasmic sperm injection, D: Days, NGS: Next-generation sequence, IVF: In vitro fertilization, aCGH: Array comparative genomic hybridization, MALBAC: Multiple annealing and looping-based amplification cycle, NICSInst: Noninvasive chromosome screening inst library preparation kit | |||||||||||