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A case of repeated failed non-invasive prenatal testing in a
woman with immune thrombocytopenia and antiphospholipid
syndrome
Introduction:
Non-invasive prenatal testing (NIPT) by analysis of cell-free DNA (cf-
DNA) in maternal blood is highly accurate for the detection of fetal
trisomies 21,18 and 13 with a sensitivity of up to 99% and a low
false positive rate of less than 0.1%. Non-invasive prenatal testing
(NIPT) by analysis of cell-free DNA (cf-DNA) requires a fetal cf-DNA
fraction of at least 4% in maternal plasma to provide a reliable
clinical result.1
Methods:
NIPT (Harmony Prenatal Test) was performed on blood samples
drawn from a patient with immune thrombocytopenia and
antiphospholipid syndrome at varying fetal gestations
Results:
We report a case of a 37-year old Chinese woman (gravida 4 para 0)
with immune thrombocytopenia and antiphospholipid syndrome
who opted for the NIPT (Harmony Prenatal Test, Ariosa Diagnostic,
San Jose, CA, USA) directly without first trimester combined
screening (FTS) with ultrasound and maternal serum markers. She
had a background of 3 previous first trimester miscarriages and was
started on 100mg aspirin , 20mg prednisolone and 20mg
subcutaneous enoxaparin daily. Maternal height was 153cm,
maternal weight was 53.7kg and she was a non-smoker. The first
NIPT sample was drawn at 11+5 weeks gestation and a result was
not obtained due to unusually high variance in cf-DNA counts. A
second sample was drawn at 13+6 weeks but there was insufficient
fetal cfDNA. A third sample taken at 16+1 weeks gestation was again
returned because of insufficient fetal cfDNA. Her pregnancy was
subsequently complicated by severe pre-eclampsia with symptoms
of impending eclampsia and severe intrauterine growth restriction,
and she underwent a mid trimester pregnancy termination for
maternal medical indications. Fetal karyotyping postmortem
revealed 46XY.
Discussion:
Insufficient fetal fraction is uncommon, occurring in only 2% of
pregnancies between 10 to 21 weeks. Multivariable regression
analysis demonstrated that fetal fraction was affected by maternal
and fetal characteristics, decreasing with increased maternal weight
and increasing with advancing fetal gestational age. 1 2 Our patient
was of normal weight, yet failed to provide sufficient cf-DNA with
increasing gestation when more than 50% of women would have a
successful result on redraw after the first failed sample.2 Secondly,
it has been observed in our case as well as another reported in
literature 3 that there may be difficulty getting adequate cf-DNA in a
woman with autoimmune disease, postulated to be due to the
increased maternal cell destruction in women with autoimmune
disorder. A sufficient sample was reported to be obtained after
completion of a trial 7 day course of oral steroids but not after IVIG
(intravenous immunoglobulin) infusion. For our patient, she had
already been on oral prednisolone throughout her pregnancy, with
the highest platelet count reached being 60 x 10*9/L.
Another possibility to consider when challenged with multiple
failed NIPT attempts would be aneuploidy, it is important to
remember that while NIPT is highly accurate in detecting Trisomy
21, its positive predictive values drop for the other aneuploidies.4
Conclusion:
Cell free fetal DNA remains a screening and not a diagnostic test,
granted that it's screening performance is unrivaled for the more
common aneuploidies, in particular Trisomy 21. The term NIPS (non
invasive prenatal screening) is preferred and more appropriate than
NIPD. Clinicians should not be misled into adopting a practice of
abandoning or replacing the 11-14 week First trimester combined
screening test (FTS) with NIPS, as this case illustrates that a failed
result , from a variety of reasons, could result in missing the
window of opportunity for FTS.
References:
1. Ashoor G, Syngelaki A, Poon LC, Rezende JC, Nicolaides KH. Fetal fraction in maternal plasma cell-free DNA at 11-13 weeks' gestation: relation to maternal and fetal characteristics. Ultrasound Obstet Gynecol. Jan 2013;41(1):26-32.
2. Wang E, Batey A, Struble C, Musci T, Song K, Oliphant A. Gestational age and maternal weight effects on fetal cell-free DNA in maternal plasma. Prenat Diagn. Jul 2013;33(7):662-666.
3. Hui L, Bethune M, Weeks A, Kelley J, Hayes L. Repeated failed non-invasive prenatal testing owing to low cell-free fetal DNA fraction and increased variance in a woman with severe autoimmune disease. Ultrasound Obstet Gynecol. Aug
2014;44(2):242-243.
4. Dar P, Curnow KJ, Gross SJ, Hall MP, Stosic M, Demko Z, Zimmermann B, Hill M, Sigurjonsson S, Ryan A, Banjevic M, Kolacki PL, Koch SW, Strom CM, Rabinowitz M, Benn P. Clinical experience and follow-up with large scale single-
nucleotidepolymorphism-based noninvasive prenatal aneuploidy testing. Am J Obstet Gynecol. 2014 Nov;211(5):527.e1-527.e17.
.
C.Y.Y. Hui1, E.L. Tan2, H.K.Tan3, W.C.Tan4, L.K.Tan5
1 Dr. Celene Hui Yan Yan, Division of Obstetrics and Gynaecology, Singapore General Hospital
2 Dr. Tan Eng Loy, Division of Obstetrics and Gynaecology, Singapore General hospital
3 Dr. Tan Hak Koon, Division of Obstetrics and Gynaecology, Singapore General hospital
4. Dr. Tan Wei Ching, Division of Obstetrics and Gynaecology, Singapore General hospital
5 Dr. Tan Lay Kok, Division of Obstetrics and Gynaecology, Singapore General Hospital

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A case of repeated failed non-invasive prenatal testing in a woman with immune thrombocytopenia and antiphospholipid syndrome

  • 1. A case of repeated failed non-invasive prenatal testing in a woman with immune thrombocytopenia and antiphospholipid syndrome Introduction: Non-invasive prenatal testing (NIPT) by analysis of cell-free DNA (cf- DNA) in maternal blood is highly accurate for the detection of fetal trisomies 21,18 and 13 with a sensitivity of up to 99% and a low false positive rate of less than 0.1%. Non-invasive prenatal testing (NIPT) by analysis of cell-free DNA (cf-DNA) requires a fetal cf-DNA fraction of at least 4% in maternal plasma to provide a reliable clinical result.1 Methods: NIPT (Harmony Prenatal Test) was performed on blood samples drawn from a patient with immune thrombocytopenia and antiphospholipid syndrome at varying fetal gestations Results: We report a case of a 37-year old Chinese woman (gravida 4 para 0) with immune thrombocytopenia and antiphospholipid syndrome who opted for the NIPT (Harmony Prenatal Test, Ariosa Diagnostic, San Jose, CA, USA) directly without first trimester combined screening (FTS) with ultrasound and maternal serum markers. She had a background of 3 previous first trimester miscarriages and was started on 100mg aspirin , 20mg prednisolone and 20mg subcutaneous enoxaparin daily. Maternal height was 153cm, maternal weight was 53.7kg and she was a non-smoker. The first NIPT sample was drawn at 11+5 weeks gestation and a result was not obtained due to unusually high variance in cf-DNA counts. A second sample was drawn at 13+6 weeks but there was insufficient fetal cfDNA. A third sample taken at 16+1 weeks gestation was again returned because of insufficient fetal cfDNA. Her pregnancy was subsequently complicated by severe pre-eclampsia with symptoms of impending eclampsia and severe intrauterine growth restriction, and she underwent a mid trimester pregnancy termination for maternal medical indications. Fetal karyotyping postmortem revealed 46XY. Discussion: Insufficient fetal fraction is uncommon, occurring in only 2% of pregnancies between 10 to 21 weeks. Multivariable regression analysis demonstrated that fetal fraction was affected by maternal and fetal characteristics, decreasing with increased maternal weight and increasing with advancing fetal gestational age. 1 2 Our patient was of normal weight, yet failed to provide sufficient cf-DNA with increasing gestation when more than 50% of women would have a successful result on redraw after the first failed sample.2 Secondly, it has been observed in our case as well as another reported in literature 3 that there may be difficulty getting adequate cf-DNA in a woman with autoimmune disease, postulated to be due to the increased maternal cell destruction in women with autoimmune disorder. A sufficient sample was reported to be obtained after completion of a trial 7 day course of oral steroids but not after IVIG (intravenous immunoglobulin) infusion. For our patient, she had already been on oral prednisolone throughout her pregnancy, with the highest platelet count reached being 60 x 10*9/L. Another possibility to consider when challenged with multiple failed NIPT attempts would be aneuploidy, it is important to remember that while NIPT is highly accurate in detecting Trisomy 21, its positive predictive values drop for the other aneuploidies.4 Conclusion: Cell free fetal DNA remains a screening and not a diagnostic test, granted that it's screening performance is unrivaled for the more common aneuploidies, in particular Trisomy 21. The term NIPS (non invasive prenatal screening) is preferred and more appropriate than NIPD. Clinicians should not be misled into adopting a practice of abandoning or replacing the 11-14 week First trimester combined screening test (FTS) with NIPS, as this case illustrates that a failed result , from a variety of reasons, could result in missing the window of opportunity for FTS. References: 1. Ashoor G, Syngelaki A, Poon LC, Rezende JC, Nicolaides KH. Fetal fraction in maternal plasma cell-free DNA at 11-13 weeks' gestation: relation to maternal and fetal characteristics. Ultrasound Obstet Gynecol. Jan 2013;41(1):26-32. 2. Wang E, Batey A, Struble C, Musci T, Song K, Oliphant A. Gestational age and maternal weight effects on fetal cell-free DNA in maternal plasma. Prenat Diagn. Jul 2013;33(7):662-666. 3. Hui L, Bethune M, Weeks A, Kelley J, Hayes L. Repeated failed non-invasive prenatal testing owing to low cell-free fetal DNA fraction and increased variance in a woman with severe autoimmune disease. Ultrasound Obstet Gynecol. Aug 2014;44(2):242-243. 4. Dar P, Curnow KJ, Gross SJ, Hall MP, Stosic M, Demko Z, Zimmermann B, Hill M, Sigurjonsson S, Ryan A, Banjevic M, Kolacki PL, Koch SW, Strom CM, Rabinowitz M, Benn P. Clinical experience and follow-up with large scale single- nucleotidepolymorphism-based noninvasive prenatal aneuploidy testing. Am J Obstet Gynecol. 2014 Nov;211(5):527.e1-527.e17. . C.Y.Y. Hui1, E.L. Tan2, H.K.Tan3, W.C.Tan4, L.K.Tan5 1 Dr. Celene Hui Yan Yan, Division of Obstetrics and Gynaecology, Singapore General Hospital 2 Dr. Tan Eng Loy, Division of Obstetrics and Gynaecology, Singapore General hospital 3 Dr. Tan Hak Koon, Division of Obstetrics and Gynaecology, Singapore General hospital 4. Dr. Tan Wei Ching, Division of Obstetrics and Gynaecology, Singapore General hospital 5 Dr. Tan Lay Kok, Division of Obstetrics and Gynaecology, Singapore General Hospital