Browsing by Author "Jani, J."
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Item Cell-free DNA testing of maternal blood in screening for trisomies in twin pregnancy: updated cohort study at 10–14 weeks and meta-analysis.(Ultrasound in Obstetrics & Gynecology, 2021) Judah, Hannah; Gil Mira, María del Mar; Syngelaki, A.; Galeva, S.; Jani, J.; Akolekar, R.; Nicolaides, K. H.Objective To expand the limited knowledge on cell-free DNA (cfDNA) analysis of maternal blood for trisomies 21, 18 and 13 in twin pregnancy by updating the data from The Fetal Medicine Foundation (FMF) on prospective first-trimester screening and those identified in a systematic review of the literature. Methods The FMF data were derived from prospective screening for trisomies 21, 18 and 13 in twin pregnancies at 10 + 0 to 14 + 1 weeks' gestation using the Harmony® prenatal test. A search of MEDLINE, EMBASE, CENTRAL (The Cochrane Library), ClinicalTrials.gov and the International Clinical Trials Registry Platform (World Health Organization) was carried out to identify all peer-reviewed publications on clinical validation or implementation of maternal cfDNA testing for trisomies 21, 18 and 13 in twin pregnancy, irrespective of gestational age at testing, in which data on pregnancy outcome were provided for at least 85% of the study population. Meta-analysis was performed using the FMF data and data from the studies identified by the literature search. This review was registered in the PROSPERO international database for systematic reviews Results In the FMF study, cfDNA testing was carried out in 1442 twin pregnancies and a result was obtained, after first or second sampling, in 1367 (94.8%) cases. In 93.1% (1272/1367) of cases, there was prenatal or postnatal karyotyping or birth of phenotypically normal babies; 95 cases were excluded from further analysis either because the pregnancy ended in termination, miscarriage or stillbirth with no known karyotype (n = 56) or there was loss to follow-up (n = 39). In the 1272 pregnancies included in the study, there were 20 cases with trisomy 21, 10 with trisomy 18, two with trisomy 13 and 1240 without trisomy 21, 18 or 13. The cfDNA test classified correctly 19 (95.0%) of the 20 cases of trisomy 21, nine (90.0%) of the 10 cases of trisomy 18, one (50.0%) of the two cases of trisomy 13 and 1235 (99.6%) of the 1240 cases without any of the three trisomies. The literature search identified 12 relevant studies, excluding our papers because their data are included in the current study. In the combined populations of our study and the 12 studies identified by the literature search, there were 137 trisomy-21 and 7507 non-trisomy-21 twin pregnancies; the pooled weighted detection rate (DR) and false-positive rate (FPR) were 99.0% (95% CI, 92.0–99.9%) and 0.02% (95% CI, 0.001–0.43%), respectively. In the combined total of 50 cases of trisomy 18 and 6840 non-trisomy-18 pregnancies, the pooled weighted DR and FPR were 92.8% (95% CI, 77.6–98.0%) and 0.01% (95% CI, 0.00–0.44%), respectively. In the combined total of 11 cases of trisomy 13 and 6290 non-trisomy-13 pregnancies, the pooled weighted DR and FPR were 94.7% (95% CI, 9.14–99.97%) and 0.10% (95% CI, 0.03–0.39%), respectively. Conclusions In twin pregnancy, the reported DR of trisomy 21 by cfDNA testing is high, but lower than that in singleton pregnancy, whereas the FPR appears to be equally low. The number of cases of trisomy 18 and more so trisomy 13 was too small for accurate assessment of the predictive performance of the cfDNA test. © 2021 International Society of Ultrasound in Obstetrics and Gynecology.Item Risk of miscarriage after chorionic villus sampling.(Ultrasound in Obstetrics and Gynecology, 2020) Gil Mira, María del Mar; Molina, F. S.; Rodríguez Fernández, M.; Delgado, J. L.; Carrillo, M. P.; Jani, J.; Plasencia, W.; Stratieva, V.; Maíz, N.; Carretero, P.; Lismonde, A.; Chaveeva, P.; Burgos, J.; Santacruz Martín, Belén; Zamora, J.; De Paco Matallana, C.Objective To estimate the risk of miscarriage associated to chorionic villus sampling (CVS). Methods This was a retrospective cohort study performed in eight fetal‐medicine units in Spain, Belgium and Bulgaria. Two populations were included: first, all singleton pregnancies attending to their first‐trimester assessment in Murcia, Spain, and second, all singleton pregnancies having a CVS following first‐trimester assessment at any of the participating centers. We used propensity score matching analysis to estimate the association between CVS and miscarriage. We compared risks of miscarriage of CVS and non‐CVS groups after propensity score matching (1:1 ratio). This procedure creates two comparable groups balancing the maternal and pregnancy characteristics that lead to CVS, in a similar way in which randomization operates in a randomized clinical trial. Results The study population consisted of 22,250 participants in the non‐CVS group and 3,613 in the CVS group. The incidence of miscarriage in the CVS group was 2.1% (77/3,613), which was significantly higher than the 0.9% (207/22,250) in the non‐CVS group (p <0.001). The propensity score algorithm matched 2,122 CVS cases with 2,122 non‐CVS cases including 40 (1.9%) and 55 (2.6%) miscarriages in the CVS and non‐CVS groups, respectively (OR 0.72 [95% CI 0.48 to 1.10]; p = 0.146). However, we found a significant interaction between the CVS risk of miscarriage and the risk of aneuploidies, suggesting a different effect of the CVS for different baseline characteristics in such a way that, when the risk of aneuploidies is low, the risk after CVS increases (OR 2.87 [95% CI 1.13 to 7.30]) but when the risk is high, the risk after CVS is paradoxically reduced (OR 0.47 [95% CI 0.28 to 0.76]), presumably due to prenatal diagnosis and termination of major aneuploidies that would have otherwise resulted in spontaneous miscarriage. Conclusions The risk of miscarriage in women having a CVS is about 1% higher than in women without CVS, although this excess risk is not entirely due to the invasive procedure but to some extent the demographic and pregnancy characteristics of the patient undergoing CVS. After accounting for these risk factors and confining the analysis to low‐risk pregnancies, CVS seems to increase the risk of miscarriage about three times above the patient’s background‐risk. Although this is a substantial increase in relative terms, in pregnancies without risk factors, the risk of miscarriage after CVS will still remain low and similar to or slightly higher than that of the general population. For example, if her risk of aneuploidy is 1 in a 1,000 (0.1%), her risk of miscarriage after CVS will increase to 0.3% (0.2% higher).