Performance and Diagnostic Value of Genome-Wide Noninvasive Prenatal Testing in Multiple Gestations

Riel, Margot van; Brison, Nathalie; Baetens, Machteld; Blaumeiser, Bettina; Boemer, François; Bourlard, Laura; Bulk, Saskia; Leener, Anne De; Désir, Julie; Devriendt, Koenraad; Dheedene, Annelies; Duquenne, Armelle; Fieremans, Nathalie; Fieuw, Annelies; Gatot, Jean-Stéphane; Grisart, Bernard; Janssens, Sandra; Khudashvili, Naïri; Lannoo, Lore; Marichal, Axel; Meunier, Colombine; Palmeira, Léonor; Parijs, Ilse; Pichon, Bruno; Roets, Ellen; Sammels, Eva; Smits, Guillaume; Suenaert, Marion; Sznajer, Yves; Bogaert, Kris Van Den; Vancoillie, Leen; Vandeputte, Lotte; Vantroys, Elise; Vermeesch, Joris Robert; Janssens, Katrien

doi:10.1097/aog.0000000000004385

Cited by 13 publications

(18 citation statements)

References 37 publications

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“…In this study, we found that NIPT has good screening performance for T21 and SCA in twin pregnancies. The sensitivity and specificity of NIPT for T21 were 100% and 99.9%, respectively, which are consistent with the results of singleton or other twin studies [ 12 – 14 ]. For SCA, NIPT has a different sensitivity and specificity according to the types of SCA in singleton pregnancies, and the PPV is between 21.4% and 90.9% [ 15 , 16 ].…”

Section: Discussionsupporting

confidence: 89%

Noninvasive prenatal testing, ultrasonographic findings and poor prenatal diagnosis rates for twin pregnancies: a retrospective study

Yuan

Wang

Dai

et al. 2023

BMC Pregnancy Childbirth

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Background Noninvasive prenatal testing (NIPT) is increasingly used in the clinical prenatal screening of twin pregnancies, and its screening performance for chromosomal abnormalities requires further evaluation. For twin pregnancies with indications for prenatal diagnosis, there is a lack of clinical data to assess the prenatal diagnosis rate (PDR). The aim of this study was to evaluate the screening performance of NIPT for foetal chromosomal abnormalities in twin pregnancies and the PDR in the second and third trimesters. Methods Ultrasound scans were carried out for all twin pregnancies between 11 and 13+ 6 gestational weeks. For twin pregnancies with nuchal translucency thickness˂3.0 mm and no foetal structural malformations, NIPT was performed after blood sampling, followed by routine ultrasound monitoring. Women with twin pregnancies who underwent NIPT at the prenatal diagnostic centre of Xiangya Hospital from January 2018 to May 2022 were included in the study. Genetic counselling was offered to each pregnant woman when the NIPT result indicated a high risk of abnormalities or abnormal ultrasonographic (USG) findings were detected. We followed up twin pregnancies for NIPT results, USG findings, prenatal diagnosis results and pregnancy outcomes. Results In 1754 twin pregnancies, the sensitivity, specificity and positive predictive value of NIPT for trisomy 21 were 100%, 99.9% and 75%, and the corresponding values for sex chromosome aneuploidy (SCA) were 100%, 99.9% and 50%, respectively. For the 14 twin pregnancies for which the NIPT results indicated a high risk of abnormalities, the PDR was 78.6% (11/14). For the 492 twin pregnancies for which the NIPT results indicated a low risk of abnormalities, the rate of USG findings in the second and third trimesters was 39.4% (194/492); of these pregnancies, prenatal diagnosis was recommended for 16.7% (82/492), but it was actually performed in only 8.3% (41/492), and the PDR was 50% (41/82). There was no significant difference in the PDR between the NIPT high-risk and low-risk groups. Conclusions The screening performance of NIPT for SCA in twin pregnancies needs to be further evaluated. When abnormal NIPT results or USG findings are used as the main prenatal diagnostic indicator in the second and third trimesters, the PDR is poor.

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Section: Discussionsupporting

confidence: 89%

Noninvasive prenatal testing, ultrasonographic findings and poor prenatal diagnosis rates for twin pregnancies: a retrospective study

Yuan

Wang

Dai

et al. 2023

BMC Pregnancy Childbirth

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“…Four studies included only high risk pregnancies, 25–28 that is, advanced maternal age (>35 years at delivery), abnormal fetal findings on ultrasound examination, personal history of a child with aneuploidy, abnormal serum screening results, or a parent carrying a balanced Robertsonian translocation. Two studies included a mixed risk population, 23,24 and one included women of the general obstetric population 10 . One study described the chorionicity of the VTs and made a distinction between two types of VTs: type I with an additional empty GS and type II with a non‐viable embryo 27 .…”

Section: Resultsmentioning

confidence: 99%

“…Four studies were retrospective observational cohort studies, 10,[23][24][25] and three were prospective observational cohort studies, [26][27][28] all published between 2018 and 2021. The cohort sizes ranged from 5 to 767 VT pregnancies.…”

Section: Resultsmentioning

confidence: 99%

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Non‐invasive prenatal testing (NIPT) in twin pregnancies affected by early single fetal demise: A systematic review of NIPT and vanishing twins

van Eekhout,

Bekker,

Bax

et al. 2023

Prenatal Diagnosis

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The screening performance of non-invasive prenatal testing (NIPT) in vanishing twin (VT) pregnancies is relatively unknown. To close this knowledge gap, we conducted a systematic review of the available literature. Studies describing the test performance of NIPT for trisomy 21, 18, 13, sex chromosomes and additional findings in pregnancies with a VT were retrieved from a literature search with a publication date until October 4, 2022. The methodological quality of the studies was assessed with the quality assessment tool for diagnostic accuracy studies-2 (QUADAS-2). The screen positive rate of the pooled data and the pooled positive predictive value (PPV) were calculated using a random effects model. Seven studies, with cohort sizes ranging from 5 to 767, were included. The screen positive rate of the pooled data for trisomy 21 was 35/1592 (2.2%), with a PPV of 20% (confirmation in 7/35 cases [95% CI 9.8%-36%]). For trisomy 18, the screen positive rate was 13/1592 (0.91%) and the pooled PPV 25% [95% CI 1.3%-90%]. The screen positive rate for trisomy 13 was 7/1592 (0.44%) and confirmed in 0/7 cases (pooled PPV 0% [95% CI 0%-100%]). The screen positive rate for additional findings was 23/767 (2.9%), of which none could be confirmed. No discordant negative results were reported.There is insufficient data to fully evaluate NIPT performance in pregnancies with a VT. However, existing studies suggest that NIPT can successfully detect common autosomal aneuploidies in pregnancies affected by a VT but with a higher false positive rate. Further studies are needed to determine the optimal timing of NIPT in VT pregnancies.

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“…51 Although based on small numbers, noninvasive prenatal testing (NIPT) appears to have similar accuracy as in singletons. 56 However, to exclude heterokaryotypic monochorionic twins, a positive NIPT is best confirmed by a dual amniocentesis, unless both twins show concordant anomalies on the first-trimester scan.…”

Section: Diagnosismentioning

confidence: 99%

Monochorionic diamniotic twin pregnancies

Lewi

2022

American Journal of Obstetrics & Gynecology MFM

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Performance and Diagnostic Value of Genome-Wide Noninvasive Prenatal Testing in Multiple Gestations

Cited by 13 publications

References 37 publications

Noninvasive prenatal testing, ultrasonographic findings and poor prenatal diagnosis rates for twin pregnancies: a retrospective study

Noninvasive prenatal testing, ultrasonographic findings and poor prenatal diagnosis rates for twin pregnancies: a retrospective study

Non‐invasive prenatal testing (NIPT) in twin pregnancies affected by early single fetal demise: A systematic review of NIPT and vanishing twins

Monochorionic diamniotic twin pregnancies

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