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Article ; Online: Microbiome and Gestational Diabetes: Interactions with Pregnancy Outcome and Long-Term Infant Health.

Neri, Caterina / Serafino, Erika / Morlando, Maddalena / Familiari, Alessandra

2021 Volume 2021, Page(s) 9994734

Abstract: Microbiota composition is progressively being connected to different physiologic effects, such as glucose metabolism, and also to different pathologies, such as gestational diabetes mellitus (GDM). GDM is a public health concern that affects an important ...

Abstract	Microbiota composition is progressively being connected to different physiologic effects, such as glucose metabolism, and also to different pathologies, such as gestational diabetes mellitus (GDM). GDM is a public health concern that affects an important percentage of pregnancies and is correlated with many adverse maternal and neonatal outcomes. An increasing number of studies are showing some connections between specific microbial composition of the gut microbiota and development of GDM and adverse outcomes in mothers and neonates. The aim of this review is to analyze the available data on microbial changes that characterize healthy pregnancies and pregnancies complicated by GDM and to understand the correlation of these changes with adverse maternal outcomes; this review will also discuss the consequences of these maternal gut microbiome alterations on neonatal microbiota composition and neonatal long-term outcomes.
MeSH term(s)	Adult ; Diabetes, Gestational/genetics ; Diabetes, Gestational/physiopathology ; Female ; Humans ; Infant Health/ethnology ; Infant, Newborn ; Microbiota/immunology ; Microbiota/physiology ; Pregnancy ; Pregnancy Outcome/epidemiology ; Pregnancy Outcome/genetics ; Time
Language	English
Publishing date	2021-11-25
Publishing country	England
Document type	Journal Article ; Review
ZDB-ID	2711897-6
ISSN	2314-6753 ; 2314-6753
ISSN (online)	2314-6753
ISSN	2314-6753
DOI	10.1155/2021/9994734
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Article ; Online: Reference values for pulsatility index of fetal anterior and posterior cerebral arteries in prolonged pregnancy.

Rosati, Paolo / Buongiorno, Silvia / Salvi, Silvia / Lanzone, Antonio / Familiari, Alessandra

Journal of clinical ultrasound : JCU

2021 Volume 49, Issue 3, Page(s) 199–204

Abstract: Objective: To establish consistent normal reference values for fetal anterior cerebral artery (ACA) and posterior cerebral artery (PCA) pulsatility index (PI) in prolonged pregnancy.: Methods: This prospective cross-sectional observational study ... ...

Abstract	Objective: To establish consistent normal reference values for fetal anterior cerebral artery (ACA) and posterior cerebral artery (PCA) pulsatility index (PI) in prolonged pregnancy. Methods: This prospective cross-sectional observational study included singleton normal prolonged pregnancies into two study groups according to the gestational age: from 40 + 0 to 40 + 6 and from 41 + 0 to 41 + 6 weeks. The PI was assessed in both anatomical segments of ACA (ACA-S1 and ACA-S2) and of PCA (PCA-S1 and PCA-S2) with color Doppler imaging and pulsed Doppler examination, and reference centiles charts were generated. PI values from the two investigated segments of each vessel were also compared. Results: Data were obtained in 771 patients: n = 448 in the 40 + 0 and 40 + 6 weeks group, and n = 323 in the 41 + 0 and 41 + 6 weeks group. A moderate decrease in PI was observed as pregnancy progressed. No differences in PI values were found between the two anatomical segments of ACA and PCA. Conclusion: This study provides Doppler reference values for the fetal ACA and PCA PI. It also shows that Doppler examination could be performed indifferently in one of the two anatomical segments of these arteries.
MeSH term(s)	Adult ; Cross-Sectional Studies ; Female ; Fetus/blood supply ; Fetus/diagnostic imaging ; Hemodynamics ; Humans ; Infant ; Posterior Cerebral Artery/diagnostic imaging ; Posterior Cerebral Artery/physiopathology ; Pregnancy ; Pregnancy, Prolonged/diagnostic imaging ; Pregnancy, Prolonged/physiopathology ; Prospective Studies ; Reference Values ; Ultrasonography, Prenatal/standards
Language	English
Publishing date	2021-01-26
Publishing country	United States
Document type	Journal Article
ZDB-ID	189393-2
ISSN	1097-0096 ; 0091-2751
ISSN (online)	1097-0096
ISSN	0091-2751
DOI	10.1002/jcu.22979
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Article: Multiple Pregnancy and the Risk of Postpartum Hemorrhage: Retrospective Analysis in a Tertiary Level Center of Care.

di Marco, Giulia / Bevilacqua, Elisa / Passananti, Elvira / Neri, Caterina / Airoldi, Chiara / Maccarrone, Alessia / Ciavarro, Vittoria / Lanzone, Antonio / Familiari, Alessandra

Diagnostics (Basel, Switzerland)

2023 Volume 13, Issue 3

Abstract: The aim of our study was to identify characteristics associated with postpartum hemorrhage (PPH defined as blood loss >1000 mL) in twin pregnancies in order to select patients at higher risk to be treated. This retrospective study includes multiple ... ...

Abstract	The aim of our study was to identify characteristics associated with postpartum hemorrhage (PPH defined as blood loss >1000 mL) in twin pregnancies in order to select patients at higher risk to be treated. This retrospective study includes multiple pregnancies between 2015 and 2020. The possible association between pregnancy characteristics and the primary endpoint (occurrence of PPH) was conducted using chi-square or Fisher exact test and Wilcoxon test. Then, univariate logistic models were performed considering as outcome the PPH, and the odds ratios with 95% CI were estimated. Finally, a multivariate logistic model was implemented, including all significant covariates. Seven hundred seven twin pregnancies giving birth beyond 32 weeks were included and of those, 120 (16.97%) had a PPH. The univariate analysis showed that factors significantly associated with PPH were: Preterm delivery, episiotomy, neonatal weight, and mode of delivery. The multivariate analysis showed that the most important factors were episiotomy and neonatal weight. The results show that the performance of episiotomy and the neonatal weight are the factors that most impact the risk of PPH in twin pregnancies. The correct identification of factors associated with PPH in twins could ideally allow to modify the clinical management and positively affect the rate of complications.
Language	English
Publishing date	2023-01-26
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2662336-5
ISSN	2075-4418
ISSN	2075-4418
DOI	10.3390/diagnostics13030446
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Article ; Online: Maternal position during the second stage of labor and maternal-neonatal outcomes in nulliparous women: a retrospective cohort study.

Familiari, Alessandra / Neri, Caterina / Passananti, Elvira / Marco, Giulia Di / Felici, Francesca / Ranieri, Elisa / Flacco, Maria Elena / Lanzone, Antonio

AJOG global reports

2023 Volume 3, Issue 1, Page(s) 100160

Abstract: Background: The existing evidence is insufficient to draw conclusions about the association between maternal position in labor and obstetrical outcomes.: Objective: This study aimed to evaluate the effects of different maternal positions during the ... ...

Abstract	Background: The existing evidence is insufficient to draw conclusions about the association between maternal position in labor and obstetrical outcomes. Objective: This study aimed to evaluate the effects of different maternal positions during the second stage of labor among women with and those without epidural analgesia on important obstetrical outcomes including perineal damage. Study design: In this retrospective cohort study, we collected data of women who delivered vaginally over a 2-year period. The associations between maternal and gestational characteristics and several obstetrical outcomes were analyzed. We considered perineal damage as the primary outcome. Secondary outcomes were the incidence of operative vaginal births, duration of fetal descent, intrapartum blood loss, and 1-minute and 5-minutes Apgar scores. Results: A total of 2240 nulliparous, at-term pregnancies were included. Of those, 76.9% gave birth in a supine position and 23.1% gave birth in alternative positions. The results showed that regardless of the use of epidural analgesia, nonsupine positions in the second stage of labor are associated with a significant reduction in the risk of both episiotomy and perineal damage to any degree ( Conclusion: Our results show that nonsupine positions in the second stage of labor and at the time of birth are associated with a significant increase in having an intact perineum and a reduction in any perineal trauma and in the need for an episiotomy regardless of the use of epidural analgesia.
Language	English
Publishing date	2023-01-17
Publishing country	United States
Document type	Journal Article
ISSN	2666-5778
ISSN (online)	2666-5778
DOI	10.1016/j.xagr.2023.100160
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Article: Is the mental health of couples with twins more at risk? Results from an Italian cohort study.

Bonanni, Giulia / Longo, Valentina Laurita / Airoldi, Chiara / Meli, Federica / Familiari, Alessandra / Romanzi, Federica / Pellegrino, Marcella / Visconti, Daniela / Serio, Annamaria / Lanzone, Antonio / Bevilacqua, Elisa

Frontiers in psychiatry

2024 Volume 15, Page(s) 1284090

Abstract: Introduction: Our retrospective study aimed to investigate whether parents of twins encounter heightened psychological and emotional distress one year after childbirth, in comparison to parents of singletons within an Italian cohort.: Methods: ... ...

Abstract	Introduction: Our retrospective study aimed to investigate whether parents of twins encounter heightened psychological and emotional distress one year after childbirth, in comparison to parents of singletons within an Italian cohort. Methods: Exclusion criteria included multiparity, preterm birth, congenital anomalies, stillbirth, >2 fetus pregnancies, and pre-existing maternal mental health disorders. Out of the 300 couples (600 parents) invited to participate, 286 parents (158 mothers, 128 fathers) successfully completed a self-administered survey. We analyzed three scores separately for mothers and fathers, differentiating between singleton and twin pregnancies: the Edinburgh Postnatal Depression Scale (EPDS) score, the State and Trait Anxiety Inventory (STAI)-Y1 score, and the STAI-Y2 score. Results: Logistic models were used to assess the influence of age, BMI, marital status, education, and employment on the three binary scores (EPDS, STAI-Y1, and STAI-Y2), revealing no significant differences in absolute scores between parents of singletons and twins. Paired analysis revealed significantly higher EPDS (mean increase: 3.8, SD: 6.5), STAI-Y1 (mean increase: 5.4, SD: 12.5), and STAI-Y2 (mean increase: 4.5, SD: 12.4) scores for mothers (p < 0.0001). Approximately 10% of women and 8% of men reported suicidal thoughts. Discussion: Contrary to expectations, no substantial psychological differences emerged between parents of twins and singletons. Adjusting for confounders through univariate analysis maintained nonsignificant trends. Nevertheless, caution in interpretation is warranted due to strict inclusion criteria favoring twin pregnancies with better outcomes. Unintended bias could have resulted from routine psychological support offered to mothers of twins in our clinic. This presents an important framework for future research, including randomized controlled trials comparing parents of multiples with psychological support to those without.Finally, the elevated prevalence of depression symptoms and suicidal thoughts in our cohort underscores the importance of mental health during pregnancy and early parenting. We advocate for the screening of parents for postpartum depression and various psychological conditions, encompassing a spectrum of anxiety disorders. Those at elevated risk of mental distress should be proactively offered appropriate support.
Language	English
Publishing date	2024-01-29
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2564218-2
ISSN	1664-0640
ISSN	1664-0640
DOI	10.3389/fpsyt.2024.1284090
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Article ; Online: Maternal and fetal outcomes after planned cesarean or vaginal delivery in twin pregnancy: a comparison between 2 third level birth centers.

Bevilacqua, Elisa / Torcia, Eleonora / Meli, Federica / Josse, Juliette / Bonanni, Giulia / Olivier, Camille / Romanzi, Federica / Carlin, Andrew / Familiari, Alessandra / Jani, Jacques C / Lanzone, Antonio / Badr, Dominique A

The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians

2024 Volume 37, Issue 1, Page(s) 2350676

Abstract: Background: Twin pregnancy is associated with higher risks of adverse perinatal outcomes for both the mother and the babies. Among the many challenges in the follow-up of twin pregnancies, the mode of delivery is the last but not the least decision to ... ...

Abstract	Background: Twin pregnancy is associated with higher risks of adverse perinatal outcomes for both the mother and the babies. Among the many challenges in the follow-up of twin pregnancies, the mode of delivery is the last but not the least decision to be made, with the main influencing factors being amnionicity and fetal presentation. The aim of the study was to compare perinatal outcomes in two European centers using different protocols for twin birth in case of non-cephalic second twin; the Italian patients being delivered mainly by cesarean section with those in Belgium being routinely offered the choice of vaginal delivery (VD). Methods: This was a dual center international retrospective observational study. The population included 843 women with a twin pregnancy ≥ 32 weeks (dichorionic or monochorionic diamniotic pregnancies) and a known pregnancy outcome. The population was stratified according to chorionicity. Demographic and pregnancy data were reported per pregnancy, whereas neonatal outcomes were reported per fetus. We used multiple logistic regression models to adjust for possible confounding variables and to compute the adjusted odds ratio (adjOR) for each maternal or neonatal outcome. Results: The observed rate of cesarean delivery was significantly higher in the Italian cohort: 85% for dichorionic pregnancies and 94.4% for the monochorionic vs 45.2% and 54.4% respectively in the Belgian center ( Conclusion: In this study, neither the presentation of the second twin nor the chorionicity affected maternal and severe neonatal outcomes, regardless of the mode of delivery in two tertiary care centers, but VD was associated to a poorer short-term neonatal outcome.
MeSH term(s)	Humans ; Female ; Pregnancy ; Pregnancy, Twin/statistics & numerical data ; Cesarean Section/statistics & numerical data ; Retrospective Studies ; Adult ; Infant, Newborn ; Italy/epidemiology ; Pregnancy Outcome/epidemiology ; Belgium/epidemiology ; Delivery, Obstetric/statistics & numerical data ; Delivery, Obstetric/methods ; Birthing Centers/statistics & numerical data
Language	English
Publishing date	2024-05-09
Publishing country	England
Document type	Journal Article ; Observational Study ; Comparative Study ; Multicenter Study
ZDB-ID	2077261-0
ISSN	1476-4954 ; 1057-0802 ; 1476-7058
ISSN (online)	1476-4954
ISSN	1057-0802 ; 1476-7058
DOI	10.1080/14767058.2024.2350676
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Article ; Online: B-cell-activating factor (BAFF) and platelet-activating factor (PAF) in pregnancies complicated by maternal obesity and diabetes: a preliminary study.

Neri, Caterina / Ciliberti, Alessandra / Dessì, Davide Archelao / Airoldi, Chiara / Basello, Katia / Costanzi, Andrea / Familiari, Alessandra / Tersigni, Chiara / Cappelletti, Mattia / Speciani, Attilio Francesco / Lanzone, Antonio

2023 Volume 36, Issue 2, Page(s) 2272010

Abstract: Objective: In pregnancies complicated by maternal obesity and diabetes, a disruption in inflammatory mediators occurs, resulting in endothelial microvascular dysfunction, oxidative stress, tissue damage, and maternal and feto-neonatal complications. To ... ...

Abstract	Objective: In pregnancies complicated by maternal obesity and diabetes, a disruption in inflammatory mediators occurs, resulting in endothelial microvascular dysfunction, oxidative stress, tissue damage, and maternal and feto-neonatal complications. To outline this proinflammatory status, an innovative approach is represented by the measurement of proinflammatory cytokines. Among these biomarkers, B-cell-activating factor (BAFF) and platelet-activating factor (PAF) play a key role in metabolic regulation, immune response to infections, tissue homeostasis, and "food-related inflammation." The aim of the present study is to investigate the blood expression of BAFF and PAF in a cohort of pregnant women affected by obesity and diabetes compared with a control group of healthy pregnant women. Methods: A prospective longitudinal cohort study has been conducted on pregnant women referred to Fondazione Policlinico Universitario Gemelli IRCCS in Rome. For each pregnant woman, a capillary sample was collected with a swab in three different consecutive evaluations carried out in the three trimesters of pregnancy. Results: A total of 77 pregnant women have been enrolled. No significant differences in BAFF and PAF levels were longitudinally observed between groups. Focusing on the exposed group, in the third trimester of pregnancy, both PAF and BAFF levels were lower than the basal time. Among the selected group of patients who developed Gestational Diabetes, only PAF values were longitudinally lower when compared to other groups. The multivariate analysis showed that BAFF levels were positively correlated with thyroid-stimulating hormone levels. No macrosomia, no shoulder dystocia, no major perineal lacerations at birth, and no intrauterine growth restriction were observed in the whole population. Conclusions: This study supports the involvement of metabolic and proinflammatory biomarkers in the mechanisms related to pregnancy complications. Improving a good metabolic environment for obese and diabetic pregnant women could break the vicious cycle connecting inflammation, oxidative stress, and metabolic disorders.
MeSH term(s)	Female ; Humans ; Pregnancy ; Biomarkers ; Diabetes, Gestational ; Inflammation ; Longitudinal Studies ; Obesity/complications ; Obesity, Maternal ; Platelet Activating Factor ; Prospective Studies
Chemical Substances	Biomarkers ; Platelet Activating Factor
Language	English
Publishing date	2023-10-23
Publishing country	England
Document type	Journal Article
ZDB-ID	2077261-0
ISSN	1476-4954 ; 1057-0802 ; 1476-7058
ISSN (online)	1476-4954
ISSN	1057-0802 ; 1476-7058
DOI	10.1080/14767058.2023.2272010
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Article ; Online: The impact of placental anastomoses and umbilical cord insertions' sites on monochorionic twin pregnancy outcomes: Evidence from color-dye injection studies.

Bonanni, Giulia / Airoldi, Chiara / Romanzi, Federica / Passananti, Elvira / Torcia, Eleonora / Di Marco, Giulia / Felici, Francesca / Familiari, Alessandra / Meli, Federica / Visconti, Daniela / Lanzone, Antonio / Bevilacqua, Elisa

Placenta

2023 Volume 143, Page(s) 110–116

Abstract: Introduction: Our knowledge of monochorionic pregnancies' complications is largely based on the extensive ongoing research on monochorionic placental structure. Previous studies on the concordance of umbilical cord insertions are limited. This study ... ...

Abstract	Introduction: Our knowledge of monochorionic pregnancies' complications is largely based on the extensive ongoing research on monochorionic placental structure. Previous studies on the concordance of umbilical cord insertions are limited. This study aimed to evaluate placental anastomoses and cord insertions as independent risk factors for neonatal adverse outcomes. Methods: This was a prospective study conducted at Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy from April 2021 to December 2022. Seventy-six women with a monochorionic pregnancy were enrolled at their first-trimester scan. After delivery, all placentas that were confirmed to be monochorionic were analyzed according to standard protocols, including those of complicated monochorionic twin pregnancies. The primary outcomes were a Composite Monochorionic Pregnancy Outcome (CMPO) and a Composite Neonatal Adverse Outcome (CNAO). The secondary outcome was the birth weight discordance between the neonates. Results: The CMPO occurred in 15.8 % pregnancies, and the CNAO occurred in 67.1 % pregnancies. The analysis confirmed a significant association between velamentous cord insertions and neonatal adverse events (p = 0.003). Also, a significant positive association (p = 0.0326) between twin birth weight discordance and discordance in twins umbilical cord insertions' sites was found. No significant association between the number and type of the anastomoses and both the CMPO or CNAO was detected. Discussion: Our data suggest that the routine sonographic assessment of umbilical cords' insertion sites during the first trimester could be helpful in predicting fetal and neonatal adverse events. We believe that this sonographic assessment should start to be implemented in our routine care of monochorionic pregnancies.
MeSH term(s)	Female ; Humans ; Infant, Newborn ; Pregnancy ; Birth Weight ; Fetofetal Transfusion/etiology ; Placenta/diagnostic imaging ; Pregnancy Complications ; Pregnancy, Twin ; Prospective Studies ; Umbilical Cord/diagnostic imaging
Language	English
Publishing date	2023-10-21
Publishing country	Netherlands
Document type	Journal Article ; Twin Study
ZDB-ID	603951-0
ISSN	1532-3102 ; 0143-4004
ISSN (online)	1532-3102
ISSN	0143-4004
DOI	10.1016/j.placenta.2023.10.007
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Article ; Online: Role of Cerebroplacental Ratio in Predicting the Outcome of Pregnancies Complicated by Diabetes.

Cardinali, Federica / Panunzi, Chiara / D'Antonio, Francesco / Khalil, Asma / Spinillo, Arsenio / Arossa, Alessia / Familiari, Alessandra / Pagani, Giorgio / Resta, Serena / Rizzo, Giuseppe

Fetal diagnosis and therapy

2023 Volume 51, Issue 1, Page(s) 55–65

Abstract: Introduction: Our objective was to evaluate the strength of association and diagnostic performance of cerebroplacental ratio (CPR) in predicting the outcome of pregnancies complicated by pre- and gestational diabetes mellitus.: Methods: PubMed, ... ...

Abstract	Introduction: Our objective was to evaluate the strength of association and diagnostic performance of cerebroplacental ratio (CPR) in predicting the outcome of pregnancies complicated by pre- and gestational diabetes mellitus. Methods: PubMed, Embase, Cochrane, and Google Scholar databases were searched. Inclusion criteria were pregnancies complicated by gestational or pregestational diabetes undergoing ultrasound assessment of CPR. The primary outcome was a composite score of perinatal mortality and morbidity as defined by the original publication. The secondary outcomes included preterm birth gestational age (GA) at birth, mode of delivery, fetal growth restriction (FGR) or small for GA (SGA) newborn, neonatal birthweight, perinatal death (PND), Apgar score <7 at 5 min, abnormal acid-base status, neonatal hypoglycemia, admission to neonatal intensive care unit (NICU). Furthermore, we aimed to perform a number of sub-group analyses according to the type of diabetes (gestational and pregestational), management adopted (diet insulin or oral hypoglycemic agents), metabolic control (controlled vs. non-controlled diabetes), and fetal weight (FGR, normally grown, and large for GA fetuses). Head-to-head meta-analyses were used to directly compare the risk of each of the explored outcomes. For those outcomes found to be significant, computation of diagnostic performance of CPR was assessed using bivariate model. Results: Six studies (2,743 pregnancies) were included. The association between low CPR and adverse composite perinatal outcome was not statistically significant (p = 0.096). This result did not change when stratifying the analysis using CPR cut-off below 10th (p = 0.079) and 5th (p = 0.545) centiles. In pregnancies complicated by GDM, fetuses with a low CPR had a significantly higher risk of birthweight <10th percentile (OR: 5.83, 95% confidence interval [CI] 1.98-17.12) and this association remains significant when using a CPR <10th centile (p < 0.001). Fetuses with low CPR had also a significantly higher risk of PND (OR: 6.15, 95% CI 1.01-37.23, p < 0.001) and admission to NICU (OR 3.32, 95% CI 2.21-4.49, p < 0.001), but not of respiratory distress syndrome (p = 0.752), Apgar score <7 at 5 min (p = 0.920), abnormal acid-base status (p = 0.522), or neonatal hypoglycemia (p = 0.005). These results were confirmed when stratifying the analysis including only studies with CPR <10th centile as a cut-off to define abnormal CPR. However, CPR showed a low diagnostic accuracy for detecting perinatal outcomes. Conclusion: CPR is associated but not predictive of adverse perinatal outcome in pregnancies complicated by gestational diabetes. The findings from this systematic review do not support the use of CPR as a universal screening for pregnancy complication in women with diabetes.
MeSH term(s)	Pregnancy ; Infant, Newborn ; Female ; Humans ; Birth Weight ; Premature Birth ; Infant, Small for Gestational Age ; Fetal Growth Retardation/diagnostic imaging ; Diabetes, Gestational/diagnostic imaging ; Gestational Age ; Perinatal Death ; Ultrasonography, Prenatal ; Hypoglycemia ; Pregnancy Outcome ; Umbilical Arteries/diagnostic imaging ; Middle Cerebral Artery/diagnostic imaging ; Pulsatile Flow
Language	English
Publishing date	2023-11-03
Publishing country	Switzerland
Document type	Systematic Review
ZDB-ID	1066460-9
ISSN	1421-9964 ; 1015-3837
ISSN (online)	1421-9964
ISSN	1015-3837
DOI	10.1159/000534483
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Article ; Online: Cell-free DNA analysis of maternal blood in prenatal screening for chromosomal microdeletions and microduplications: a systematic review.

Familiari, Alessandra / Boito, Simona / Rembouskos, Georgios / Ischia, Benedetta / Accurti, Veronica / Fabietti, Isabella / Volpe, Paolo / Persico, Nicola

Prenatal diagnosis

2021 Volume 41, Issue 10, Page(s) 1324–1331

Abstract: Background and aim of the study: Scientific Societies do not recommend the use of cell-free DNA (cfDNA) testing as a first-tier screening for microdeletion and microduplication syndromes (MMs). The aim of this study was to review the current available ... ...

Abstract	Background and aim of the study: Scientific Societies do not recommend the use of cell-free DNA (cfDNA) testing as a first-tier screening for microdeletion and microduplication syndromes (MMs). The aim of this study was to review the current available literature on the performance of cell-free DNA as a screening for MMs. Methods: Medline, Embase and the Cochrane Library were searched electronically from 2000 to January 2020 and articles reporting the diagnostic performance of cfDNA screening for MMs in large (>5000 cases) series were included. Between-study heterogeneity and random effect model for screen positive rate (SPR), false positive rate (FPR) and positive predictive value (PPV) were calculated. Results: We identified 42 papers, seven included, for a total of 474,189 pregnancies and 210 cases of MMs. Diagnostic verification of positive cases was available overall in 486 (71.68 %) of 678 cases. The weighted pooled SPR, FPR and PPV were 0.19% (95% CI = 0.09-0.33), 0.07 (95% CI = 0.02-0.15) and 44.1 (95% CI = 31.49-63.07). In conclusion, the pooled PPV of cfDNA testing in screening for MMs was about 40%, ranging from 29% to 91%, for an overall FPR <0.1%. Conclusions: No confirmatory analysis was available in cases that did not undergo invasive testing, which were the vast majority of cases with a negative test, and therefore, the DR and the negative predictive value cannot be determined.
MeSH term(s)	Adult ; Cell-Free Nucleic Acids/analysis ; Cell-Free Nucleic Acids/blood ; Female ; Humans ; Maternal Serum Screening Tests/methods ; Maternal Serum Screening Tests/nursing ; Mothers/classification ; Pregnancy
Chemical Substances	Cell-Free Nucleic Acids
Language	English
Publishing date	2021-03-12
Publishing country	England
Document type	Journal Article ; Systematic Review
ZDB-ID	82031-3
ISSN	1097-0223 ; 0197-3851
ISSN (online)	1097-0223
ISSN	0197-3851
DOI	10.1002/pd.5928
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