cometadata/datacite-titles-descriptions-related-identifiers huggingface dataset:
DOI: 10.6084/m9.figshare.23664744.v1
title: A high Z-score might increase the positive predictive value of cell-free noninvasive prenatal testing for singleton-pregnant women

description: To explore the positive predictive value (PPV) in noninvasive prenatal testing (NIPT)-positive cases and analyze the effect of the Z-score intervals on PPV performance. In this retrospective study, 26,667 pregnant women underwent NIPT from November 2014 to August 2022, of which 169 were NIPT-positive cases. NIPT-positive cases were divided into three groups according to the Z-score: 3 ≤ <i>Z</i> &lt; 6, 6 ≤ <i>Z</i> &lt; 10, and <i>Z</i> ≥ 10. The PPVs of NIPT were 91.26% (94/103) for trisomy (T) 21, 80.65% (25/31) for T18, and 36.84% (7/19) for T13. The PPVs for the 3 ≤ <i>Z</i> &lt; 6, 6 ≤ <i>Z</i> &lt; 10, and <i>Z</i> ≥ 10 groups were 50%, 84.62%, and 87.95%, respectively. A higher PPV was found in the NIPT results when the Z-score was larger, with significant differences. The PPVs for T21/T18/T13 were 71.43%/42.86%/25% for 3 ≤ <i>Z</i> &lt; 6, 90.32%/85.71%/57.14% for 6 ≤ <i>Z</i> &lt; 10, and 93.85%/100%/25% for <i>Z</i> ≥ 10. For T21, T18, and T13, the correlations between the Z-score and fetal fraction concentration in true positives were <i>r</i> = 0.85, <i>r</i> = 0.59, and <i>r</i> = 0.71 (all <i>p &lt; .</i>001), respectively. Z-score is associated with the PPV performance of NIPT in fetal T13, T18, and T21. The possibility of false positives caused by placental chimerism should be considered when determining whether high Z-values lead to high PPVs.
DOI: 10.6084/m9.figshare.24654371
title: Antibiotic administration reduced intra-amniotic inflammation 7 days after preterm premature rupture of the membranes with intra-amniotic infection

description: Intra-amniotic infections increase the risk of preterm delivery and short- and long-term fetal morbidity; however, no consensus exists on the choice of antimicrobial agents as treatment for these infections. We aimed to examine the efficacy of intravenous administration of sulbactam/ampicillin (SBT/ABPC) and azithromycin (AZM) for intra-amniotic infection in patients with preterm premature rupture of membranes (PPROM). This study followed a single-centered retrospective cohort design. We compared changes in interleukin 6 (IL-6) levels and the load of <i>Ureaplasma</i> species DNA in the amniotic fluid between singleton pregnancy patients with intra-amniotic infection (Group A) and without either intra-amniotic inflammation (IAI) or microbial invasion of the amniotic cavity (MIAC) (Group B) who developed PPROM between week 22, day 0 and week 33, day 6 of gestation and maintained pregnancy for ≥7 d after diagnosis (August 2014 to April 2020). Patients in Group A were treated with SBT/ABPC and AZM, whereas those in Group B were treated with ABPC and AZM or clarithromycin. Thirty-one patients with IAI and 48 patients without either IAI or MIAC at diagnosis of PPROM underwent pregnancy/delivery management at our hospital. Following the study population selection, we evaluated six patients in Group A and 13 patients in Group B. Amniotic fluid IL-6 concentrations at the initial amniocentesis were high, ranging from 11.7 ng/mL to 139.2 ng/mL, indicating a state of severe IAI in all six patients in Group A. In five of the six patients in Group A, the amniotic fluid cultures during the first amniocentesis included <i>Ureaplasma</i> species only. In both groups, the amniotic fluid IL-6 concentration at the follow-up amniocentesis was lower than that at the initial amniocentesis (Group A: follow-up median 3.06 ng/mL [quartiles, 1.75–6.74], initial median 30.53 ng/mL [quartiles, 15.60–67.07], <i>p</i>＝.03; Group B: follow-up median 0.40 ng/mL [quartiles, 0.18–0.69], initial median 0.96 ng/mL [quartiles, 0.65–1.42], <i>p</i>＝.005); Group A showed a greater decrease than Group B (<i>p</i> &lt; .001). No difference was found between the microbial loads of <i>Ureaplasma</i> species DNA in the initial and follow-up amniocentesis (<i>p</i> = .13). In patients with PPROM and intra-amniotic infection, IL-6 levels in the amniotic fluid decreased significantly from before antimicrobial administration to day 7. This decrease is thought to be mainly due to the effects of intravenous AZM. The efficacy of AZM in patients with PPROM needs to be further confirmed <i>via</i> randomized controlled studies in the future.
DOI: 10.6084/m9.figshare.23652265
title: First trimester maternal plasma proteomic changes predictive of spontaneous moderate/late preterm delivery

description: Identification of differentially expressed proteins (DEPs) in first trimester maternal plasma between pregnant women with a subsequent spontaneous moderate/late Preterm Delivery (sPTD) and women who delivered at term. The sPTD group consisted of women who delivered between 32°<sup>/7</sup> and 36<sup>6/7 </sup>weeks of gestation. Isobaric tags for relative and absolute quantification (iTRAQ) coupled with LC–MS/MS was used for the analysis of five first trimester maternal plasma samples obtained from women with a subsequent moderate/late preterm sPTD and five women with term deliveries. Enzyme-linked immunosorbent assay (ELISA) was further applied in an independent cohort of 29 sPTD cases and 29 controls to verify the expression levels of selected proteins. 236 DEPs, mainly linked to coagulation and complement cascade, were identified in first trimester maternal plasma obtained from the sPTD group. Decreased levels of selected proteins, namely, VCAM-1, SAA, and Talin-1, were further confirmed using ELISA, highlighting their potential as candidate predictive biomarkers for sPTD at32°<sup>/7</sup> and 36<sup>6/7 </sup>weeks of gestation. First trimester maternal plasma proteomic analysis revealed protein changes associated with subsequent moderate/late preterm sPTD.
DOI: 10.6084/m9.figshare.23652265.v2
title: First trimester maternal plasma proteomic changes predictive of spontaneous moderate/late preterm delivery

description: Identification of differentially expressed proteins (DEPs) in first trimester maternal plasma between pregnant women with a subsequent spontaneous moderate/late Preterm Delivery (sPTD) and women who delivered at term. The sPTD group consisted of women who delivered between 32°<sup>/7</sup> and 36<sup>6/7 </sup>weeks of gestation. Isobaric tags for relative and absolute quantification (iTRAQ) coupled with LC–MS/MS was used for the analysis of five first trimester maternal plasma samples obtained from women with a subsequent moderate/late preterm sPTD and five women with term deliveries. Enzyme-linked immunosorbent assay (ELISA) was further applied in an independent cohort of 29 sPTD cases and 29 controls to verify the expression levels of selected proteins. 236 DEPs, mainly linked to coagulation and complement cascade, were identified in first trimester maternal plasma obtained from the sPTD group. Decreased levels of selected proteins, namely, VCAM-1, SAA, and Talin-1, were further confirmed using ELISA, highlighting their potential as candidate predictive biomarkers for sPTD at32°<sup>/7</sup> and 36<sup>6/7 </sup>weeks of gestation. First trimester maternal plasma proteomic analysis revealed protein changes associated with subsequent moderate/late preterm sPTD.
DOI: 10.6084/m9.figshare.23652265.v1
title: First trimester maternal plasma proteomic changes predictive of spontaneous moderate/late preterm delivery

description: Identification of differentially expressed proteins (DEPs) in first trimester maternal plasma between pregnant women with a subsequent spontaneous moderate/late Preterm Delivery (sPTD) and women who delivered at term. The sPTD group consisted of women who delivered between 32°<sup>/7</sup> and 36<sup>6/7 </sup>weeks of gestation. Isobaric tags for relative and absolute quantification (iTRAQ) coupled with LC–MS/MS was used for the analysis of five first trimester maternal plasma samples obtained from women with a subsequent moderate/late preterm sPTD and five women with term deliveries. Enzyme-linked immunosorbent assay (ELISA) was further applied in an independent cohort of 29 sPTD cases and 29 controls to verify the expression levels of selected proteins. 236 DEPs, mainly linked to coagulation and complement cascade, were identified in first trimester maternal plasma obtained from the sPTD group. Decreased levels of selected proteins, namely, VCAM-1, SAA, and Talin-1, were further confirmed using ELISA, highlighting their potential as candidate predictive biomarkers for sPTD at32°<sup>/7</sup> and 36<sup>6/7 </sup>weeks of gestation. First trimester maternal plasma proteomic analysis revealed protein changes associated with subsequent moderate/late preterm sPTD.
DOI: 10.6084/m9.figshare.24097968
title: Identification of a novel 91.5 kb-deletion (αα)<sup>FJ</sup> in the α-globin gene cluster using single-molecule real-time (SMRT) sequencing

description: To present a novel 91.5-kb deletion of the α-globin gene cluster (αα)<sup>FJ</sup> identified by genetic assay and prenatal diagnosis in a Chinese family. The proband was a 34-year-old G3P1 (Gravida 3, Para 1) female at the gestational age of 21<sup>+</sup> weeks with a history of an edematous fetus. A routine genetic assay (reverse dot blot hybridization, RDB) was performed to detect common thalassemia mutations. Multiplex ligation-dependent probe amplification (MLPA) and single-molecule real-time technology (SMRT) were used to detect rare thalassemia mutations. The hematological phenotypes of the proband, her mother, elder sister, husband, daughter, and nephew were consistent with the phenotype of α-thalassemia trait. No mutations were found in these family members by RDB, except for the proband’s husband who carried an α-globin gene deletion --<sup>SEA</sup>/αα. MLPA results showed that the proband and other α-thalassemia-suspected relatives had heterozygous deletions around the <i>POLR3K</i>-3-463nt, <i>HS40</i>-178nt, and <i>HBA-HS40</i>-382nt probes. The 5′-breakpoint was out of probe scope and could not be determined. SMRT was performed and a 91.5-kb deletion (NC_000016.10: g.39268_130758del) in the α-globin gene cluster (αα)<sup>FJ</sup> was identified in the proband and other suspected relatives, which could explain their phenotypes. At the proband’s gestational age of 22<sup>+</sup> weeks, an amniotic fluid sample was collected and analyzed. As only the 91.5-kb deletion (αα)<sup>FJ</sup> was identified in the fetus with RDB, MLPA, and SMRT. The proband was suggested to continue the pregnancy. We first reported a 91.5-kb deletion (NC_000016.10: g.hg38-chr16:39268-_130758del) of the HS-40 region in the α-globin gene cluster (αα)<sup>FJ</sup> identified in a Chinese family. Since the HS-40 loss of heterozygosity in combination with the heterozygous deletion --<sup>SEA</sup> might result in Hb Bart’s hydrops fetalis, routine genetic assay, and SMRT were recommended to individuals at risk for prenatal diagnosis.
DOI: 10.6084/m9.figshare.24097968.v1
title: Identification of a novel 91.5 kb-deletion (αα)<sup>FJ</sup> in the α-globin gene cluster using single-molecule real-time (SMRT) sequencing

description: To present a novel 91.5-kb deletion of the α-globin gene cluster (αα)<sup>FJ</sup> identified by genetic assay and prenatal diagnosis in a Chinese family. The proband was a 34-year-old G3P1 (Gravida 3, Para 1) female at the gestational age of 21<sup>+</sup> weeks with a history of an edematous fetus. A routine genetic assay (reverse dot blot hybridization, RDB) was performed to detect common thalassemia mutations. Multiplex ligation-dependent probe amplification (MLPA) and single-molecule real-time technology (SMRT) were used to detect rare thalassemia mutations. The hematological phenotypes of the proband, her mother, elder sister, husband, daughter, and nephew were consistent with the phenotype of α-thalassemia trait. No mutations were found in these family members by RDB, except for the proband’s husband who carried an α-globin gene deletion --<sup>SEA</sup>/αα. MLPA results showed that the proband and other α-thalassemia-suspected relatives had heterozygous deletions around the <i>POLR3K</i>-3-463nt, <i>HS40</i>-178nt, and <i>HBA-HS40</i>-382nt probes. The 5′-breakpoint was out of probe scope and could not be determined. SMRT was performed and a 91.5-kb deletion (NC_000016.10: g.39268_130758del) in the α-globin gene cluster (αα)<sup>FJ</sup> was identified in the proband and other suspected relatives, which could explain their phenotypes. At the proband’s gestational age of 22<sup>+</sup> weeks, an amniotic fluid sample was collected and analyzed. As only the 91.5-kb deletion (αα)<sup>FJ</sup> was identified in the fetus with RDB, MLPA, and SMRT. The proband was suggested to continue the pregnancy. We first reported a 91.5-kb deletion (NC_000016.10: g.hg38-chr16:39268-_130758del) of the HS-40 region in the α-globin gene cluster (αα)<sup>FJ</sup> identified in a Chinese family. Since the HS-40 loss of heterozygosity in combination with the heterozygous deletion --<sup>SEA</sup> might result in Hb Bart’s hydrops fetalis, routine genetic assay, and SMRT were recommended to individuals at risk for prenatal diagnosis.
DOI: 10.6084/m9.figshare.23633098
title: Amnioinfusion vs. standard management for the second trimester PPROM: a systematic review and meta-analysis of observational studies and RCTs

description: This meta-analysis aims to review the effect of serial transabdominal amnioinfusion (TAI) on short-term and long-term perinatal outcomes in mid-trimester preterm premature rupture of membranes (PPROM). Literature searches of PubMed, Web of Sciences, Scopus, and Cochrane Library were performed from their inception to April 2022. Studies comparing conventional treatment with serial TAI in women with proven PPROM at less than 26 + 0 weeks of gestation with oligohydramnios were included. Studies that included oligohydramnios due to other reasons such as fetal growth retardation or renal anomalies were excluded. Risk of bias in observational studies was assessed using the tool of the Cochrane Review group identified as risk of bias in non-randomized studies – of interventions. The risk of bias assessments for RCTs were performed according to the Cochrane risk-of-bias tool for randomized trials. An <i>I</i><sup>2</sup> score was used to assess the heterogeneity of included studies. The analyses were performed by using random-effect model, and the results were expressed as relative risk (RR) or mean difference with 95% confidence intervals (CIs). Overall, eight relevant studies including five observational studies (<i>n</i> = 252; 130 women allocated to the intervention) and three RCTs (<i>n</i> = 183; 93 women allocated to the intervention) were eligible. The pooled latency period was 21.9 days (95% CI, 13.1–30.8) and 5.8 days (95% CI, −11.6–23.2) longer in the TAI group in the observational studies and RCTs, respectively. The perinatal mortality rate reduced in the intervention group when tested in observational studies (RR 0.68; 95% CI, 0.51–0.92), but not in RCTs (RR 0.79; 95% CI, 0.56–1.13). The rate of long-term healthy survival was higher in the children whose mothers were treated with the TAI (35.7%) than those were treated with the standard management (28.6%) (RR 1.30, 95% CI 0.47–3.60, “best case scenario”). The efficacy of serial TA on early PPROM associated morbidity and mortality is not attested. Additional randomized control trials with adequate power are needed.
DOI: 10.6084/m9.figshare.19998082
title: Abnormal chromosomes identification using chromosomal microarray

description: In this study, we presented a case series to highlight the chromosomal microarray (CMA) in identifying chromosomal abnormalities which is undetectable by conventional karyotyping or known abnormal chromosomes without clear diagnosis. Extensive studies showed that CMA was gradually accepted as a prenatal invasive testing during pregnancy. The aim of this study was to evaluate the diagnostic effect of CMA for foetuses with abnormal chromosomes unrecognised by conventional karyotyping. Pregnant women who need prenatal diagnosis with all indications were enrolled in this study. For aberrant cytogenetic findings that cannot be defined by routine karyotyping, single nucleotide polymorphism array (SNP-array) was used. Six cases with abnormal karyotype were included in the study. With higher resolution of translocation breakpoints, CMA could detect smaller chromosomal imbalances that were undetectable by karyotyping. This study highlights the value of CMA for the detection of submicroscopic abnormalities in foetuses that cannot be detected by conventional karyotyping.
Impact Statement<b>What is already known on this subject?</b> Chromosomal microarray (CMA) offers additional diagnostic benefits by revealing submicroscopic imbalances or copy number variations (CNVs) that are too small to be identified on a standard G-banded chromosome preparation.<b>What do the results of this study add?</b> We added a case series to highlight the CMA in identifying chromosomal abnormalities not detectable by conventional karyotyping or known abnormal chromosomes without clear diagnosis.<b>What are the implications of these findings for clinical practice and/or further research?</b> This study highlights the value of CMA in the case of associated foetuses with submicroscopic abnormalities that cannot detect by conventional karyotyping. <b>What is already known on this subject?</b> Chromosomal microarray (CMA) offers additional diagnostic benefits by revealing submicroscopic imbalances or copy number variations (CNVs) that are too small to be identified on a standard G-banded chromosome preparation. <b>What do the results of this study add?</b> We added a case series to highlight the CMA in identifying chromosomal abnormalities not detectable by conventional karyotyping or known abnormal chromosomes without clear diagnosis. <b>What are the implications of these findings for clinical practice and/or further research?</b> This study highlights the value of CMA in the case of associated foetuses with submicroscopic abnormalities that cannot detect by conventional karyotyping.
DOI: 10.6084/m9.figshare.19998082.v1
title: Abnormal chromosomes identification using chromosomal microarray

description: In this study, we presented a case series to highlight the chromosomal microarray (CMA) in identifying chromosomal abnormalities which is undetectable by conventional karyotyping or known abnormal chromosomes without clear diagnosis. Extensive studies showed that CMA was gradually accepted as a prenatal invasive testing during pregnancy. The aim of this study was to evaluate the diagnostic effect of CMA for foetuses with abnormal chromosomes unrecognised by conventional karyotyping. Pregnant women who need prenatal diagnosis with all indications were enrolled in this study. For aberrant cytogenetic findings that cannot be defined by routine karyotyping, single nucleotide polymorphism array (SNP-array) was used. Six cases with abnormal karyotype were included in the study. With higher resolution of translocation breakpoints, CMA could detect smaller chromosomal imbalances that were undetectable by karyotyping. This study highlights the value of CMA for the detection of submicroscopic abnormalities in foetuses that cannot be detected by conventional karyotyping.
Impact Statement<b>What is already known on this subject?</b> Chromosomal microarray (CMA) offers additional diagnostic benefits by revealing submicroscopic imbalances or copy number variations (CNVs) that are too small to be identified on a standard G-banded chromosome preparation.<b>What do the results of this study add?</b> We added a case series to highlight the CMA in identifying chromosomal abnormalities not detectable by conventional karyotyping or known abnormal chromosomes without clear diagnosis.<b>What are the implications of these findings for clinical practice and/or further research?</b> This study highlights the value of CMA in the case of associated foetuses with submicroscopic abnormalities that cannot detect by conventional karyotyping. <b>What is already known on this subject?</b> Chromosomal microarray (CMA) offers additional diagnostic benefits by revealing submicroscopic imbalances or copy number variations (CNVs) that are too small to be identified on a standard G-banded chromosome preparation. <b>What do the results of this study add?</b> We added a case series to highlight the CMA in identifying chromosomal abnormalities not detectable by conventional karyotyping or known abnormal chromosomes without clear diagnosis. <b>What are the implications of these findings for clinical practice and/or further research?</b> This study highlights the value of CMA in the case of associated foetuses with submicroscopic abnormalities that cannot detect by conventional karyotyping.
DOI: 10.6084/m9.figshare.25450378.v1
title: SAMMY-seq 4f human tracks data

description: In this repository is stored the hub used to make the genomic track UCSC session to display and share all the tracks shown into "Biochemical properties of chromatin domains define genome compartmentalization" based on the human genome (fibroblasts).
DOI: 10.6084/m9.figshare.20102903
title: Placenta accreta spectrum disorders in the first trimester: a systematic review

description: Placenta accreta spectrum (PAS) disorders involve an abnormality in the implantation of the placenta, being rarely diagnosed in the first trimester. To conduct a systematic review of the risk factors, clinical and imaging features, and outcomes of histopathologically confirmed cases of PAS disorders in the first trimester of pregnancy. Different databases including PubMed, MEDLINE Complete, Scopus, Web of Science, EMBASE, SciELO, LILACS, and Ovid were reviewed up to November 2018. 55 patients with a definitive histopathological diagnosis were reported. About 18 had a history of prior curettage and 47 of previous caesarean deliveries (CD). About 74.54% presented with miscarriage and ultrasound signs of caesarean scar pregnancy (CSP) were reported in 22.49%. Temporal sequence of diagnostic studies could be determined in 52 women, and, among these, PAS disorders were defined through imaging techniques in 11 (21.15%) while surgical findings unveiled them in 15 (28.84%). Nonetheless, in half of the cases, the diagnosis was concluded only on histopathological samples. PAS disorders in the first trimester of pregnancy are rarely diagnosed through imaging techniques and lead to hysterectomy in most cases. Ultrasound training to detect PAS disorders in women with risk factors is crucial for early diagnosis and prevention of adverse outcomes.
DOI: 10.6084/m9.figshare.19410319
title: Developing locoregional evidence through comparison of WHO and national maternal near miss criteria: a cross sectional study experience from low resource setting

description: Developing locoregional evidence through comparison of WHO and national maternal near miss criteria: a cross sectional study experience from low resource setting
DOI: 10.6084/m9.figshare.19410319.v1
title: Developing locoregional evidence through comparison of WHO and national maternal near miss criteria: a cross sectional study experience from low resource setting

description: Developing locoregional evidence through comparison of WHO and national maternal near miss criteria: a cross sectional study experience from low resource setting