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Published in: BMC Pregnancy and Childbirth 1/2024

Open Access 01-12-2024 | Preimplantation Genetic Diagnostics | Research

Should non-invasive prenatal testing be recommended for patients who achieve pregnancy with PGT?

Authors: Yunhao Liang, Meiyi Li, Jia Fei, Zhiheng Chen

Published in: BMC Pregnancy and Childbirth | Issue 1/2024

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Abstract

Objective

To determine whether non-invasive prenatal testing is an alternative testing option to preimplantation genetic testing (PGT) in pregnant patients.

Methods

This was a retrospective study of the clinical outcomes of patients who underwent PGT and invasive or non-invasive pregnancy testing after euploid blastocyst transfer at our IVF centre between January 2017 and December 2022.

Results

In total, 321 patients were enrolled in this study, 138 (43.0%) received invasive pregnancy testing, and 183 (57.0%) patients underwent non-invasive testing. The mean age of the patients in Group 2 was higher than that of the patients in Group 1 (35.64 ± 4.74 vs. 31.04 ± 4.15 years, P < 0.001). The basal LH and AMH levels were higher in Group 1 than in Group 2 (4.30 ± 2.68 vs. 3.40 ± 1.88, P = 0.003; 5.55 ± 11.22 vs. 4.09 ± 3.55, P = 0.012), but the clinical outcomes were not significantly different. Furthermore, the clinical outcomes of patients undergoing invasive testing were similar to those of patients undergoing non-invasive testing with the same PGT indication.

Conclusion

Our results suggest that non-invasive pregnancy testing is a suitable alternative option for detecting the foetal chromosomal status in a PGT cycle. However, the usefulness of non-invasive testing in PGT-M patients is still limited.
Literature
2.
go back to reference Fesahat F, Montazeri F, Hoseini SM. Preimplantation genetic testing in assisted reproduction technology. J Gynecol Obstet Hum Reprod. 2020;49(5):101723.CrossRefPubMed Fesahat F, Montazeri F, Hoseini SM. Preimplantation genetic testing in assisted reproduction technology. J Gynecol Obstet Hum Reprod. 2020;49(5):101723.CrossRefPubMed
3.
4.
go back to reference Neal SA, et al. Preimplantation genetic testing for aneuploidy is cost-effective, shortens treatment time, and reduces the risk of failed embryo transfer and clinical miscarriage. Fertil Steril. 2018;110(5):896–904.CrossRefPubMed Neal SA, et al. Preimplantation genetic testing for aneuploidy is cost-effective, shortens treatment time, and reduces the risk of failed embryo transfer and clinical miscarriage. Fertil Steril. 2018;110(5):896–904.CrossRefPubMed
5.
go back to reference Brezina PR, Anchan R, Kearns WG. Preimplantation genetic testing for aneuploidy: what technology should you use and what are the differences? J Assist Reprod Genet. 2016;33(7):823–32.CrossRefPubMedPubMedCentral Brezina PR, Anchan R, Kearns WG. Preimplantation genetic testing for aneuploidy: what technology should you use and what are the differences? J Assist Reprod Genet. 2016;33(7):823–32.CrossRefPubMedPubMedCentral
6.
go back to reference Lee I, et al. Utilization of preimplantation genetic testing for monogenic disorders. Fertil Steril. 2020;114(4):854–60.CrossRefPubMed Lee I, et al. Utilization of preimplantation genetic testing for monogenic disorders. Fertil Steril. 2020;114(4):854–60.CrossRefPubMed
7.
go back to reference Cheng L, et al. Decisional needs of patients considering preimplantation genetic testing: a systematic review. Reprod Biomed Online. 2022;44(5):839–52.CrossRefPubMed Cheng L, et al. Decisional needs of patients considering preimplantation genetic testing: a systematic review. Reprod Biomed Online. 2022;44(5):839–52.CrossRefPubMed
8.
go back to reference Penzias A, et al. The use of preimplantation genetic testing for aneuploidy (PGT-A): a committee opinion. Fertil Steril. 2018;109(3):429–36.CrossRef Penzias A, et al. The use of preimplantation genetic testing for aneuploidy (PGT-A): a committee opinion. Fertil Steril. 2018;109(3):429–36.CrossRef
9.
go back to reference Zhai F, et al. Preimplantation genetic testing for structural rearrangement based on low-coverage next-generation sequencing accurately discriminates between normal and carrier embryos for patients with translocations. Reprod Biomed Online. 2022;45(3):473–80.CrossRefPubMed Zhai F, et al. Preimplantation genetic testing for structural rearrangement based on low-coverage next-generation sequencing accurately discriminates between normal and carrier embryos for patients with translocations. Reprod Biomed Online. 2022;45(3):473–80.CrossRefPubMed
12.
go back to reference Treff NR, Zimmerman RS. Advances in preimplantation genetic testing for monogenic Disease and Aneuploidy. Annu Rev Genom Hum Genet. 2017;18(1):189–200.CrossRef Treff NR, Zimmerman RS. Advances in preimplantation genetic testing for monogenic Disease and Aneuploidy. Annu Rev Genom Hum Genet. 2017;18(1):189–200.CrossRef
13.
go back to reference Victor AR, et al. Assessment of aneuploidy concordance between clinical trophectoderm biopsy and blastocyst. Hum Reprod. 2019;34(1):181–92.CrossRefPubMed Victor AR, et al. Assessment of aneuploidy concordance between clinical trophectoderm biopsy and blastocyst. Hum Reprod. 2019;34(1):181–92.CrossRefPubMed
15.
go back to reference Huang L, et al. Non-invasive preimplantation genetic testing for aneuploidy in spent medium may be more reliable than trophectoderm biopsy. Proc Natl Acad Sci U S A. 2019;116(28):14105–12.CrossRefPubMedPubMedCentral Huang L, et al. Non-invasive preimplantation genetic testing for aneuploidy in spent medium may be more reliable than trophectoderm biopsy. Proc Natl Acad Sci U S A. 2019;116(28):14105–12.CrossRefPubMedPubMedCentral
16.
go back to reference Popovic M, et al. Chromosomal mosaicism in human blastocysts: the ultimate diagnostic dilemma. Hum Reprod Update. 2020;26(3):313–34.CrossRefPubMed Popovic M, et al. Chromosomal mosaicism in human blastocysts: the ultimate diagnostic dilemma. Hum Reprod Update. 2020;26(3):313–34.CrossRefPubMed
17.
go back to reference Taylor TH, et al. The origin, mechanisms, incidence and clinical consequences of chromosomal mosaicism in humans. Hum Reprod Update. 2014;20(4):571–81.CrossRefPubMed Taylor TH, et al. The origin, mechanisms, incidence and clinical consequences of chromosomal mosaicism in humans. Hum Reprod Update. 2014;20(4):571–81.CrossRefPubMed
18.
go back to reference Kimelman D, Pavone ME. Non-invasive prenatal testing in the context of IVF and PGT-A. Best Practice & Research Clinical Obstetrics & Gynaecology, 2021. 70: p. 51–62. Kimelman D, Pavone ME. Non-invasive prenatal testing in the context of IVF and PGT-A. Best Practice & Research Clinical Obstetrics & Gynaecology, 2021. 70: p. 51–62.
19.
go back to reference Group ECOP. Expert consensus on preimplantation genetic diagnosis and screening. Chin J Med Genet. 2018;10(02):57. Group ECOP. Expert consensus on preimplantation genetic diagnosis and screening. Chin J Med Genet. 2018;10(02):57.
20.
go back to reference Salomon LJ, et al. Risk of Miscarriage following amniocentesis or Chorionic Villus Sampling: systematic review of literature and updated Meta-analysis. Obstet Gynecol Surv. 2020;75(3):152–4.CrossRef Salomon LJ, et al. Risk of Miscarriage following amniocentesis or Chorionic Villus Sampling: systematic review of literature and updated Meta-analysis. Obstet Gynecol Surv. 2020;75(3):152–4.CrossRef
21.
go back to reference Beta J, et al. Procedure-related risk of miscarriage following chorionic villus sampling and amniocentesis. Ultrasound in Obstetrics & Gynecology. 2019;54(4):452–7.CrossRef Beta J, et al. Procedure-related risk of miscarriage following chorionic villus sampling and amniocentesis. Ultrasound in Obstetrics & Gynecology. 2019;54(4):452–7.CrossRef
22.
go back to reference Shaw J, et al. Preimplantation genetic testing: non-invasive prenatal testing for aneuploidy, copy-number variants and single-gene disorders. Reprod (Cambridge England). 2020;160(5):A1–A11.CrossRef Shaw J, et al. Preimplantation genetic testing: non-invasive prenatal testing for aneuploidy, copy-number variants and single-gene disorders. Reprod (Cambridge England). 2020;160(5):A1–A11.CrossRef
23.
go back to reference Mackie FL, et al. The accuracy of cell-free fetal DNA-based non-invasive prenatal testing in singleton pregnancies: a systematic review and bivariate meta-analysis. BJOG. 2017;124(1):32–46.CrossRefPubMed Mackie FL, et al. The accuracy of cell-free fetal DNA-based non-invasive prenatal testing in singleton pregnancies: a systematic review and bivariate meta-analysis. BJOG. 2017;124(1):32–46.CrossRefPubMed
24.
go back to reference Taylor-Phillips S, et al. Accuracy of non-invasive prenatal testing using cell-free DNA for detection of Down, Edwards and Patau syndromes: a systematic review and meta-analysis. BMJ Open. 2016;6(1):e010002.CrossRefPubMedPubMedCentral Taylor-Phillips S, et al. Accuracy of non-invasive prenatal testing using cell-free DNA for detection of Down, Edwards and Patau syndromes: a systematic review and meta-analysis. BMJ Open. 2016;6(1):e010002.CrossRefPubMedPubMedCentral
25.
go back to reference Zheng Y, et al. The accuracy and feasibility of non-invasive prenatal testing in a consecutive series of 20,626 pregnancies with different clinical characteristics. J Clin Lab Anal. 2022;36(10):e24660.CrossRefPubMedPubMedCentral Zheng Y, et al. The accuracy and feasibility of non-invasive prenatal testing in a consecutive series of 20,626 pregnancies with different clinical characteristics. J Clin Lab Anal. 2022;36(10):e24660.CrossRefPubMedPubMedCentral
26.
go back to reference Klimczak AM, et al. Interpretation of non-invasive prenatal testing results following in vitro fertilization and preimplantation genetic testing for aneuploidy. Am J Obstet Gynecol MFM. 2020;2(4):100232.CrossRefPubMed Klimczak AM, et al. Interpretation of non-invasive prenatal testing results following in vitro fertilization and preimplantation genetic testing for aneuploidy. Am J Obstet Gynecol MFM. 2020;2(4):100232.CrossRefPubMed
27.
go back to reference Gil MM, et al. Analysis of cell-free DNA in maternal blood in screening for aneuploidies: updated meta-analysis. Ultrasound Obstet Gynecol. 2017;3(50):302–14.CrossRef Gil MM, et al. Analysis of cell-free DNA in maternal blood in screening for aneuploidies: updated meta-analysis. Ultrasound Obstet Gynecol. 2017;3(50):302–14.CrossRef
28.
go back to reference Werner MD, et al. Clinically recognizable error rate after the transfer of comprehensive chromosomal screened euploid embryos is low. Fertil Steril. 2014;102(6):1613–8.CrossRefPubMed Werner MD, et al. Clinically recognizable error rate after the transfer of comprehensive chromosomal screened euploid embryos is low. Fertil Steril. 2014;102(6):1613–8.CrossRefPubMed
29.
go back to reference Beyer CE, et al. Preimplantation genetic testing using Karyomapping for a paternally inherited reciprocal translocation: a case study. J Assist Reprod Genet. 2019;36(5):951–63.CrossRefPubMedPubMedCentral Beyer CE, et al. Preimplantation genetic testing using Karyomapping for a paternally inherited reciprocal translocation: a case study. J Assist Reprod Genet. 2019;36(5):951–63.CrossRefPubMedPubMedCentral
30.
go back to reference Ou Z, et al. Using affected embryos to establish linkage phase in preimplantation genetic testing for thalassemia. Reprod Biol Endocrinol. 2022;20(1):75.CrossRefPubMedPubMedCentral Ou Z, et al. Using affected embryos to establish linkage phase in preimplantation genetic testing for thalassemia. Reprod Biol Endocrinol. 2022;20(1):75.CrossRefPubMedPubMedCentral
31.
go back to reference Wang H, et al. Influence of different post-thaw culture time on the clinical outcomes of different quality embryos. Adv Clin Exp Med. 2019;28(4):523–7.CrossRefPubMed Wang H, et al. Influence of different post-thaw culture time on the clinical outcomes of different quality embryos. Adv Clin Exp Med. 2019;28(4):523–7.CrossRefPubMed
32.
go back to reference Groenewoud ER, et al. What is the optimal means of preparing the endometrium in frozen–thawed embryo transfer cycles? A systematic review and meta-analysis. Hum Reprod Update. 2013;19(5):458–70.CrossRefPubMed Groenewoud ER, et al. What is the optimal means of preparing the endometrium in frozen–thawed embryo transfer cycles? A systematic review and meta-analysis. Hum Reprod Update. 2013;19(5):458–70.CrossRefPubMed
33.
go back to reference Tong J, et al. Comparison of day 5 blastocyst with day 6 blastocyst: evidence from NGS-based PGT-A results. J Assist Reprod Genet. 2022;39(2):369–77.CrossRefPubMedPubMedCentral Tong J, et al. Comparison of day 5 blastocyst with day 6 blastocyst: evidence from NGS-based PGT-A results. J Assist Reprod Genet. 2022;39(2):369–77.CrossRefPubMedPubMedCentral
34.
go back to reference Walani SR. Global burden of preterm birth. Int J Gynaecol Obstet. 2020;1(150):31–3.CrossRef Walani SR. Global burden of preterm birth. Int J Gynaecol Obstet. 2020;1(150):31–3.CrossRef
35.
go back to reference Zegers-Hochschild F, et al. The International Glossary on Infertility and Fertility Care, 2017. Fertil Steril. 2017;108(3):393–406.CrossRefPubMed Zegers-Hochschild F, et al. The International Glossary on Infertility and Fertility Care, 2017. Fertil Steril. 2017;108(3):393–406.CrossRefPubMed
36.
go back to reference Long R, et al. Risk of birth defects in children conceived by artificial oocyte activation and intracytoplasmic sperm injection: a meta-analysis. Reprod Biol Endocrinol. 2020;18(1):123.CrossRefPubMedPubMedCentral Long R, et al. Risk of birth defects in children conceived by artificial oocyte activation and intracytoplasmic sperm injection: a meta-analysis. Reprod Biol Endocrinol. 2020;18(1):123.CrossRefPubMedPubMedCentral
37.
go back to reference Racoubian E, et al. Age-dependent changes in anti-mullerian hormone levels in Lebanese females: correlation with basal FSH and LH levels and LH/FSH ratio: a cross-sectional study. BMC Womens Health. 2020;20(1):134.CrossRefPubMedPubMedCentral Racoubian E, et al. Age-dependent changes in anti-mullerian hormone levels in Lebanese females: correlation with basal FSH and LH levels and LH/FSH ratio: a cross-sectional study. BMC Womens Health. 2020;20(1):134.CrossRefPubMedPubMedCentral
38.
go back to reference Zhao X, et al. Association between the Ratio of Ovarian Stimulation Duration to original follicular phase length and in Vitro Fertilization outcomes: a Novel Index to optimise clinical trigger time. Front Endocrinol (Lausanne). 2022;13:862500.CrossRefPubMed Zhao X, et al. Association between the Ratio of Ovarian Stimulation Duration to original follicular phase length and in Vitro Fertilization outcomes: a Novel Index to optimise clinical trigger time. Front Endocrinol (Lausanne). 2022;13:862500.CrossRefPubMed
39.
go back to reference Kimelman D, et al. Do patients who achieve pregnancy using IVF-PGS do the recommended genetic diagnostic testing in pregnancy? J Assist Reprod Genet. 2018;35(10):1881–5.CrossRefPubMedPubMedCentral Kimelman D, et al. Do patients who achieve pregnancy using IVF-PGS do the recommended genetic diagnostic testing in pregnancy? J Assist Reprod Genet. 2018;35(10):1881–5.CrossRefPubMedPubMedCentral
40.
go back to reference Joshi N, et al. Prenatal diagnostic testing in patients with fertility treatments, differences in indications. Fertil Steril. 2018;110(4, Supplement):e259–60.CrossRef Joshi N, et al. Prenatal diagnostic testing in patients with fertility treatments, differences in indications. Fertil Steril. 2018;110(4, Supplement):e259–60.CrossRef
41.
go back to reference Rabinowitz T, Shomron N. Genome-wide non-invasive prenatal diagnosis of monogenic disorders: current and future trends. Comput Struct Biotechnol J. 2020;18:2463–70.CrossRefPubMedPubMedCentral Rabinowitz T, Shomron N. Genome-wide non-invasive prenatal diagnosis of monogenic disorders: current and future trends. Comput Struct Biotechnol J. 2020;18:2463–70.CrossRefPubMedPubMedCentral
Metadata
Title
Should non-invasive prenatal testing be recommended for patients who achieve pregnancy with PGT?
Authors
Yunhao Liang
Meiyi Li
Jia Fei
Zhiheng Chen
Publication date
01-12-2024
Publisher
BioMed Central
Published in
BMC Pregnancy and Childbirth / Issue 1/2024
Electronic ISSN: 1471-2393
DOI
https://doi.org/10.1186/s12884-024-06284-7

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