Repeated failed non‐invasive prenatal testing owing to low cell‐free fetal <scp>DNA</scp> fraction and increased variance in a woman with severe autoimmune disease

Hui, Lisa; Bethune, Michael; Weeks, Ashley; Kelley, Joanne; Hayes, L.

doi:10.1002/uog.13418

Cited by 28 publications

(28 citation statements)

References 3 publications

(4 reference statements)

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“…A similar case of repeated failed NIPT was reported in a woman with severe autoimmune disease, with a successful analysis performed when the sample was drawn at 21+0 weeks following two failed samples 7. This sample was taken after the woman completed a 7-day course of oral steroids, and her platelet count improved to 98×10 9 /L.…”

Section: Discussionmentioning

confidence: 64%

“…A trial of immunosuppression with steroids and intravenous immunoglobulin (IVIG) had been used for a similar case in a woman with autoimmune disease; however, there was no medical indication or strong evidence for this treatment 7. This option was discussed with the patient, and given the poor supporting evidence was not recommended.…”

Section: Treatmentmentioning

confidence: 99%

“…Multivariate regression analysis has demonstrated that fetal fraction is affected by maternal and fetal characteristics, decreasing with increasing maternal weight and increasing with advancing fetal gestational age and increasing serum markers such as pregnancy-associated plasma protein-A (PAPP-A) and free β-human chorionic gonadotropin (bhcg) 5 6. It has been postulated that maternal autoimmune conditions may affect fetal fraction 7. Furthermore, a recent study by Grömminger et al 8 found that maternal use of low-molecular-weight heparin (LMWH) has been shown to affect NIPT results, by raising the content of smaller plasma DNA fragments with a higher guanosin-cytosin (GC) content.…”

Section: Introductionmentioning

confidence: 99%

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Repeated failed non-invasive prenatal testing in a woman with immune thrombocytopenia and antiphospholipid syndrome: lessons learnt

Hui¹,

Tan

et al. 2016

BMJ Case Reports

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We present a case of a 37-year-old Chinese woman (gravida 4 para 0) with a history of immune thrombocytopenia and type IIb antiphospholipid syndrome. She was started on 100 mg of aspirin, 20 mg of prednisolone and 20 mg of subcutaneous low-molecular-weight heparin daily for her fourth pregnancy. She opted for non-invasive prenatal testing for aneuploidy screening but had failed results three times consecutively from insufficient fetal cfDNA initially or high variance in cfDNA counts on redraws. She declined invasive karyotyping. Her pregnancy was complicated by severe pre-eclampsia and fetal growth restriction at 19+6 weeks of gestation and was terminated. Subsequent fetal karyotyping revealed a normal karyotype of 46XY with no apparent abnormalities.

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Section: Discussionmentioning

confidence: 64%

Section: Treatmentmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Repeated failed non-invasive prenatal testing in a woman with immune thrombocytopenia and antiphospholipid syndrome: lessons learnt

Hui¹,

Tan

et al. 2016

BMJ Case Reports

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“…The adverse effect of IVIG noted in our prior case 5 may have been due the borderline acceptable fetal fraction (4.6%) prior to IVIG infusion, differences in the type of cfDNA assay (chromosome selective vs whole genome) and the presence of severe autoimmune disease. Our negative finding adds to the accumulating literature on the influence of maternal factors on cfDNA screening and may assist clinicians in pretest counseling of pregnant women receiving IVIG.…”

mentioning

confidence: 76%

“…We reported previously our experience of repeated failed cfDNA screening in a woman with severe autoimmune disease and low fetal fraction 5 . In that report, our serial samples suggested that intravenous immunoglobulin (IVIG) therapy caused increased variance in cfDNA counts, leading to a failed cfDNA result.…”

mentioning

confidence: 99%

Minimal impact of maternal intravenous immunoglobulin infusion on cell-free DNA sequencing for fetal aneuploidy

Hui

Pertile

Tassone

et al. 2016

Ultrasound Obstet Gynecol

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Reasons for failure of noninvasive prenatal test for cell‐free fetal DNA in maternal peripheral blood

Kong,

Zhang,

Yang

et al. 2024

Molec Gen & Gen Med

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BackgroundTo explore reasons for the failure of noninvasive prenatal test (NIPT) for cell‐free fetal DNA (cffDNA) in maternal peripheral blood, and discuss appropriate treatment schemes after the failure of the test.MethodsAltogether 41,136 pregnant women participated in NIPT. Blood samples were taken again from pregnant women who failed the first blood collection upon their informed consent. Prenatal genetic counseling or prenatal diagnosis was recommended for pregnant women with final NIPT failure.ResultsThe first failure rate of NIPT was 0.737% (303/41136), and the reason for the failure was the low ratio of cffDNA in 135 (44.6%) of the 303 pregnant women. After the second or third blood sampling, the final failure rate was 0.182% (75/41136). The low ratio of cffDNA was the main reason for test failure in 42 (56.0%) of the 75 pregnant women who finally failed NIPT, among whom 44 (58.7%) had underlying diseases, including 21 (47.7%) with more than two coexisting underlying diseases. Only 27 (36.0%) of the 75 pregnant women with NIPT failure underwent interventional prenatal diagnosis.ConclusionsThe main reason for NIPT failure was the low ratio of cffDNA. Postponing the gestational weeks of blood collection may improve the success rate. Resampling and retesting upon informed consent in pregnant women who failed the first test could improve the success rate. For pregnant women who finally failed NIPT, it is suggested strengthening the genetic counseling, prenatal examination, and ultrasound evaluation, and carry out interventional prenatal diagnosis if necessary.

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Repeated failed non‐invasive prenatal testing owing to low cell‐free fetal DNA fraction and increased variance in a woman with severe autoimmune disease

Cited by 28 publications

References 3 publications

Repeated failed non-invasive prenatal testing in a woman with immune thrombocytopenia and antiphospholipid syndrome: lessons learnt

Repeated failed non-invasive prenatal testing in a woman with immune thrombocytopenia and antiphospholipid syndrome: lessons learnt

Minimal impact of maternal intravenous immunoglobulin infusion on cell-free DNA sequencing for fetal aneuploidy

Reasons for failure of noninvasive prenatal test for cell‐free fetal DNA in maternal peripheral blood

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