Performance of non-invasive prenatal testing for trisomies 21 and 18 in twin pregnancies

Molecular Cytogenetics
Jiexia YangAihua Yin

Abstract

Cell-free fetal DNA in maternal plasma represents a source of fetal genetic material that can be sampled noninvasively. There are ample studies confirming the accuracy of NIPT in singleton pregnancies, but there is still relatively little studies demonstrate the feasibility and clinical application of a NIPT for fetal aneuploidy screening in twin pregnancies. In this study, we have finished 432 twin pregnancies screening by NIPT. There were 4 double chorionic dichorionic diamniotic (DCDA) cases of true positive NIPT results, including 1of T18 and 3 of T21, and 1 monochorionic diamniotic (MCDA) cases of true positive NIPT results, including 1of T21. The combined false-positive frequency for trisomies 21, 18 was 0%. Furthermore, there were 2 cases of false positive NIPT results, including 1 of T7 and 1 of sex chromosome aneuploidy. There was no false negative case, which gave a combined sensitivity and specificity of 100 and 99.53% respectively. Our study demonstrated NIPT performed well in the detection of trisomy 21 in twin pregnancy. It is feasible and clinical applicable of NIPT for fetal aneuploidy screening in twin pregnancies. But, it needs a large number of clinical samples to demonstrate the applicability of other chromo...Continue Reading

References

Dec 28, 2000·American Journal of Reproductive Immunology : AJRI·A Radojcić BadovinacL Randić
Jul 18, 2008·Reproductive Biomedicine Online·John Collins
Dec 31, 2008·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·A C GjerrisA Tabor
Oct 31, 2012·American Journal of Obstetrics and Gynecology·Kypros H NicolaidesGisele Touzet
Nov 2, 2012·Clinical Chemistry·James Z Z QuY M Dennis Lo
Mar 2, 2013·Human Reproduction Update·Michèle HansenCarol Bower
Mar 16, 2013·Genetics in Medicine : Official Journal of the American College of Medical Genetics·April L HallGail H Vance
Jun 15, 2013·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·P BennE Pergament
Oct 16, 2013·Ultraschall in der Medizin : Organ der Deutschen Gesellschaft für Ultraschall in der Medizin, [der] Österreichischen Gesellschaft für Ultraschall in der Medizin, [der] Schweizerischen Gesellschaft für Ultraschall in Medizin und Biologie·C KählerT Schramm
Nov 20, 2013·Fetal Diagnosis and Therapy·Maria del Mar GilKypros H Nicolaides
May 7, 2014·Proceedings of the National Academy of Sciences of the United States of America·Can LiaoKang Zhang
Aug 8, 2014·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Jia-Chi WangCharles M Strom
Oct 10, 2014·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·E BevilacquaJ C Jani
Dec 3, 2014·American Journal of Obstetrics and Gynecology·Kirsten J CurnowSusan J Gross
Jul 15, 2015·JAMA : the Journal of the American Medical Association·Diana W BianchiMeredith Halks-Miller
Nov 11, 2015·Proceedings of the National Academy of Sciences of the United States of America·Ai-Hua YinKang Zhang
May 18, 2016·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Anne Mardy, Ronald J Wapner
May 20, 2016·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·L FoslerL D Platt
Jun 4, 2016·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·K R RockJ L Miller
Apr 12, 2017·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·M M GilK H Nicolaides
Sep 2, 2017·Journal of Obstetrics and Gynaecology Canada : JOGC = Journal D'obstétrique Et Gynécologie Du Canada : JOGC·François Audibert, Alain Gagnon

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Citations

Oct 26, 2018·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·S GalevaK H Nicolaides
Feb 12, 2020·Molecular Cytogenetics·Mahtab MotevasselianSoudeh Ghafouri-Fard
Jun 6, 2019·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·M M GilK H Nicolaides
Jan 19, 2021·American Journal of Obstetrics and Gynecology·Asma KhalilAris T Papageorghiou
May 7, 2021·Obstetrics and Gynecology·Margot van RielKatrien Janssens
Apr 11, 2021·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·H JudahK H Nicolaides
Oct 12, 2021·American Journal of Obstetrics & Gynecology MFM·Maeve K Hopkins, Lorraine Dugoff

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