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Obesity is linked to high-risk prostate cancer in multiethnic population
Key clinical point: Obesity (body mass index of ≥30 kg/m2) is associated with high-risk prostate cancer in non-Hispanic Black (NHB) and Hispanic men.
Major finding: Obesity showed an independent association with high-risk prostate cancer (odds ratio [OR] 2.23; 95% CI 1.28-3.81). Compared with nonobese men without diabetes mellitus (DM), those with obesity and DM showed a higher risk for intermediate- (OR 1.93; P = .013) and high-risk prostate cancer (OR 2.40; P = .011).
Study details: This was a retrospective study of 1,303 patients with prostate cancer. The prevalence of obesity and DM was 29.3% and 28.3%, respectively. Most of the patients were of NHB (38%) or Hispanic ethnicity (31%).
Disclosures: This work was funded by the American Cancer Society. The authors declared no conflicts of interest.
Source: Zhu D et al. Clin Genitourin Cancer. 2022 (Jan 31). Doi: 10.1016/j.clgc.2022.01.016.
Key clinical point: Obesity (body mass index of ≥30 kg/m2) is associated with high-risk prostate cancer in non-Hispanic Black (NHB) and Hispanic men.
Major finding: Obesity showed an independent association with high-risk prostate cancer (odds ratio [OR] 2.23; 95% CI 1.28-3.81). Compared with nonobese men without diabetes mellitus (DM), those with obesity and DM showed a higher risk for intermediate- (OR 1.93; P = .013) and high-risk prostate cancer (OR 2.40; P = .011).
Study details: This was a retrospective study of 1,303 patients with prostate cancer. The prevalence of obesity and DM was 29.3% and 28.3%, respectively. Most of the patients were of NHB (38%) or Hispanic ethnicity (31%).
Disclosures: This work was funded by the American Cancer Society. The authors declared no conflicts of interest.
Source: Zhu D et al. Clin Genitourin Cancer. 2022 (Jan 31). Doi: 10.1016/j.clgc.2022.01.016.
Key clinical point: Obesity (body mass index of ≥30 kg/m2) is associated with high-risk prostate cancer in non-Hispanic Black (NHB) and Hispanic men.
Major finding: Obesity showed an independent association with high-risk prostate cancer (odds ratio [OR] 2.23; 95% CI 1.28-3.81). Compared with nonobese men without diabetes mellitus (DM), those with obesity and DM showed a higher risk for intermediate- (OR 1.93; P = .013) and high-risk prostate cancer (OR 2.40; P = .011).
Study details: This was a retrospective study of 1,303 patients with prostate cancer. The prevalence of obesity and DM was 29.3% and 28.3%, respectively. Most of the patients were of NHB (38%) or Hispanic ethnicity (31%).
Disclosures: This work was funded by the American Cancer Society. The authors declared no conflicts of interest.
Source: Zhu D et al. Clin Genitourin Cancer. 2022 (Jan 31). Doi: 10.1016/j.clgc.2022.01.016.
Prostate cancer: Active surveillance may be appropriate in selected intermediate-risk patients
Key clinical point: The risk for metastasis and cancer-specific mortality is significantly higher in patients with favorable and unfavorable intermediate-risk vs. low-risk patients with prostate cancer managed with active surveillance.
Major finding: The risk for metastasis and prostate cancer-specific mortality was significantly higher in patients with favorable (subdistribution hazard ratios [SHR] 6.49 and 2.94, respectively; both P < .001) and unfavorable (SHR 14.45 and 7.90, respectively; P < .001) intermediate-risk disease vs. those with low-risk disease.
Study details: This was a retrospective study of 9,733 patients with low- or intermediate-risk prostate cancer undergoing active surveillance between 2001 and 2015.
Disclosures: This study was sponsored by the National Institutes of Health and U.S. Department of Defense. Several of the authors received consulting/speaker fees, honoraria, travel support, and other financial and nonfinancial interests, served on advisory boards, or were employed by pharmaceutical companies. The other authors had no conflicts of interest.
Source: Courtney PT et al. J Natl Compr Canc Netw. 2022;20(2):151-159 (Feb 1). Doi: 10.6004/jnccn.2021.7065.
Key clinical point: The risk for metastasis and cancer-specific mortality is significantly higher in patients with favorable and unfavorable intermediate-risk vs. low-risk patients with prostate cancer managed with active surveillance.
Major finding: The risk for metastasis and prostate cancer-specific mortality was significantly higher in patients with favorable (subdistribution hazard ratios [SHR] 6.49 and 2.94, respectively; both P < .001) and unfavorable (SHR 14.45 and 7.90, respectively; P < .001) intermediate-risk disease vs. those with low-risk disease.
Study details: This was a retrospective study of 9,733 patients with low- or intermediate-risk prostate cancer undergoing active surveillance between 2001 and 2015.
Disclosures: This study was sponsored by the National Institutes of Health and U.S. Department of Defense. Several of the authors received consulting/speaker fees, honoraria, travel support, and other financial and nonfinancial interests, served on advisory boards, or were employed by pharmaceutical companies. The other authors had no conflicts of interest.
Source: Courtney PT et al. J Natl Compr Canc Netw. 2022;20(2):151-159 (Feb 1). Doi: 10.6004/jnccn.2021.7065.
Key clinical point: The risk for metastasis and cancer-specific mortality is significantly higher in patients with favorable and unfavorable intermediate-risk vs. low-risk patients with prostate cancer managed with active surveillance.
Major finding: The risk for metastasis and prostate cancer-specific mortality was significantly higher in patients with favorable (subdistribution hazard ratios [SHR] 6.49 and 2.94, respectively; both P < .001) and unfavorable (SHR 14.45 and 7.90, respectively; P < .001) intermediate-risk disease vs. those with low-risk disease.
Study details: This was a retrospective study of 9,733 patients with low- or intermediate-risk prostate cancer undergoing active surveillance between 2001 and 2015.
Disclosures: This study was sponsored by the National Institutes of Health and U.S. Department of Defense. Several of the authors received consulting/speaker fees, honoraria, travel support, and other financial and nonfinancial interests, served on advisory boards, or were employed by pharmaceutical companies. The other authors had no conflicts of interest.
Source: Courtney PT et al. J Natl Compr Canc Netw. 2022;20(2):151-159 (Feb 1). Doi: 10.6004/jnccn.2021.7065.
Prostate cancer: Salvage radiotherapy after surgery extends long-term survival
Key clinical point: In patients with prostate cancer, salvage radiotherapy (SRT) for biochemical recurrence after radical prostatectomy is associated with improved survival in the long term.
Major finding: The median follow up was 95.9 months. At 15 years, SRT was associated with a significantly higher metastasis-free survival (84.3% vs. 76.9%; adjusted hazard ratio [aHR] 0.37; P < .001) and overall survival (85.3% vs. 74.4%; aHR 0.64; P = .03).
Study details: A propensity score-matched analysis of 874 patients with prostate cancer who experienced biochemical recurrence after radical prostatectomy and underwent SRT or observation between 1989 and 2016.
Disclosures: No external funding source was identified for this work. The authors declared no conflicts of interest.
Source: Tilki D et al. Cancers. 2022;14(3):740 (Jan 31). Doi: 10.3390/cancers14030740.
Key clinical point: In patients with prostate cancer, salvage radiotherapy (SRT) for biochemical recurrence after radical prostatectomy is associated with improved survival in the long term.
Major finding: The median follow up was 95.9 months. At 15 years, SRT was associated with a significantly higher metastasis-free survival (84.3% vs. 76.9%; adjusted hazard ratio [aHR] 0.37; P < .001) and overall survival (85.3% vs. 74.4%; aHR 0.64; P = .03).
Study details: A propensity score-matched analysis of 874 patients with prostate cancer who experienced biochemical recurrence after radical prostatectomy and underwent SRT or observation between 1989 and 2016.
Disclosures: No external funding source was identified for this work. The authors declared no conflicts of interest.
Source: Tilki D et al. Cancers. 2022;14(3):740 (Jan 31). Doi: 10.3390/cancers14030740.
Key clinical point: In patients with prostate cancer, salvage radiotherapy (SRT) for biochemical recurrence after radical prostatectomy is associated with improved survival in the long term.
Major finding: The median follow up was 95.9 months. At 15 years, SRT was associated with a significantly higher metastasis-free survival (84.3% vs. 76.9%; adjusted hazard ratio [aHR] 0.37; P < .001) and overall survival (85.3% vs. 74.4%; aHR 0.64; P = .03).
Study details: A propensity score-matched analysis of 874 patients with prostate cancer who experienced biochemical recurrence after radical prostatectomy and underwent SRT or observation between 1989 and 2016.
Disclosures: No external funding source was identified for this work. The authors declared no conflicts of interest.
Source: Tilki D et al. Cancers. 2022;14(3):740 (Jan 31). Doi: 10.3390/cancers14030740.
Localized prostate cancer: Add-on ADT delays metastasis
Key clinical point: Adding androgen deprivation therapy (ADT) to radiotherapy in men with intermediate-/high-risk localized prostate cancer improves metastasis-free survival (MFS).
Major finding: At a median follow-up of 11.4 years, the addition of ADT to radiotherapy significantly improved MFS (hazard ratio [HR] 0.83; P < .0001). Prolonged adjuvant ADT also improved MFS (HR 0.84; P < .0001).
Study details: This was an individual patient data meta-analysis of 10,853 patients with localized prostate cancer from 12 randomized trials.
Disclosures: This work was funded by the University Hospitals Seidman Cancer Center, Prostate Cancer Foundation, and the American Society for Radiation Oncology. The authors received personal/consulting/advisory fees and research support or reported being a member of the clinical trial steering committee and holding stocks outside this work.
Source: Kishan AU et al. Lancet Oncol. 2022;23(2):P304-16 (Jan 17). Doi: 10.1016/ S1470-2045(21)00705-1.
Key clinical point: Adding androgen deprivation therapy (ADT) to radiotherapy in men with intermediate-/high-risk localized prostate cancer improves metastasis-free survival (MFS).
Major finding: At a median follow-up of 11.4 years, the addition of ADT to radiotherapy significantly improved MFS (hazard ratio [HR] 0.83; P < .0001). Prolonged adjuvant ADT also improved MFS (HR 0.84; P < .0001).
Study details: This was an individual patient data meta-analysis of 10,853 patients with localized prostate cancer from 12 randomized trials.
Disclosures: This work was funded by the University Hospitals Seidman Cancer Center, Prostate Cancer Foundation, and the American Society for Radiation Oncology. The authors received personal/consulting/advisory fees and research support or reported being a member of the clinical trial steering committee and holding stocks outside this work.
Source: Kishan AU et al. Lancet Oncol. 2022;23(2):P304-16 (Jan 17). Doi: 10.1016/ S1470-2045(21)00705-1.
Key clinical point: Adding androgen deprivation therapy (ADT) to radiotherapy in men with intermediate-/high-risk localized prostate cancer improves metastasis-free survival (MFS).
Major finding: At a median follow-up of 11.4 years, the addition of ADT to radiotherapy significantly improved MFS (hazard ratio [HR] 0.83; P < .0001). Prolonged adjuvant ADT also improved MFS (HR 0.84; P < .0001).
Study details: This was an individual patient data meta-analysis of 10,853 patients with localized prostate cancer from 12 randomized trials.
Disclosures: This work was funded by the University Hospitals Seidman Cancer Center, Prostate Cancer Foundation, and the American Society for Radiation Oncology. The authors received personal/consulting/advisory fees and research support or reported being a member of the clinical trial steering committee and holding stocks outside this work.
Source: Kishan AU et al. Lancet Oncol. 2022;23(2):P304-16 (Jan 17). Doi: 10.1016/ S1470-2045(21)00705-1.
Niraparib shows activity in mCRPC
Key clinical point: Niraparib is tolerable and shows activity in heavily pretreated patients with metastatic castration-resistant prostate cancer (mCRPC) and DNA repair gene defects (DRD).
Major finding: The median follow-up duration was 10 months and 8.6 months in the measurable BRCA and non-BRCA cohorts, respectively. The objective response rate was 34.2% in the measurable BRCA cohort and 10.6% in the measurable non-BRCA cohort. The most common grade 3 or higher adverse events were hematological (anemia, thrombocytopenia, and neutropenia). These adverse events were manageable with treatment interruptions, dose reductions, or supportive measures.
Study details: An open-label, single-arm, phase 2 GALAHAD study of 289 patients with histologically confirmed mCRPC and DRD who were treated with niraparib.
Disclosures: This study was sponsored by Janssen Research & Development. The authors received grants, contracts, payments, honoraria, travel support, and consulting/advisory/personal fees or reported being in a leadership role, holding stocks, or other ownership roles relative to Janssen Research & Development.
Source: Smith MR et al. Lancet Oncol. 2022 (Feb 4). Doi: 10.1016/S1470-2045(21)00757-9.
Key clinical point: Niraparib is tolerable and shows activity in heavily pretreated patients with metastatic castration-resistant prostate cancer (mCRPC) and DNA repair gene defects (DRD).
Major finding: The median follow-up duration was 10 months and 8.6 months in the measurable BRCA and non-BRCA cohorts, respectively. The objective response rate was 34.2% in the measurable BRCA cohort and 10.6% in the measurable non-BRCA cohort. The most common grade 3 or higher adverse events were hematological (anemia, thrombocytopenia, and neutropenia). These adverse events were manageable with treatment interruptions, dose reductions, or supportive measures.
Study details: An open-label, single-arm, phase 2 GALAHAD study of 289 patients with histologically confirmed mCRPC and DRD who were treated with niraparib.
Disclosures: This study was sponsored by Janssen Research & Development. The authors received grants, contracts, payments, honoraria, travel support, and consulting/advisory/personal fees or reported being in a leadership role, holding stocks, or other ownership roles relative to Janssen Research & Development.
Source: Smith MR et al. Lancet Oncol. 2022 (Feb 4). Doi: 10.1016/S1470-2045(21)00757-9.
Key clinical point: Niraparib is tolerable and shows activity in heavily pretreated patients with metastatic castration-resistant prostate cancer (mCRPC) and DNA repair gene defects (DRD).
Major finding: The median follow-up duration was 10 months and 8.6 months in the measurable BRCA and non-BRCA cohorts, respectively. The objective response rate was 34.2% in the measurable BRCA cohort and 10.6% in the measurable non-BRCA cohort. The most common grade 3 or higher adverse events were hematological (anemia, thrombocytopenia, and neutropenia). These adverse events were manageable with treatment interruptions, dose reductions, or supportive measures.
Study details: An open-label, single-arm, phase 2 GALAHAD study of 289 patients with histologically confirmed mCRPC and DRD who were treated with niraparib.
Disclosures: This study was sponsored by Janssen Research & Development. The authors received grants, contracts, payments, honoraria, travel support, and consulting/advisory/personal fees or reported being in a leadership role, holding stocks, or other ownership roles relative to Janssen Research & Development.
Source: Smith MR et al. Lancet Oncol. 2022 (Feb 4). Doi: 10.1016/S1470-2045(21)00757-9.
Metastatic CRPC: Autologous dendritic cell-based immunotherapy fails to extend survival
Key clinical point: The addition of dendritic cell vaccine immunotherapy for prostate cancer (DCVAC/PCa) to chemotherapy followed by DCVAC/PCa maintenance therapy does not extend overall survival in patients with metastatic castration-resistant prostate cancer (mCRPC).
Major finding: The overall survival was not significantly different between the DCVAC/PCa and placebo groups (median 23.9 months vs. 24.3 months; hazard ratio 1.04; P = .60). The treatment-emergent adverse event rate was 9.2% in the DCVAC/PCa group and 12.7% in the placebo group.
Study details: A double-blind, parallel-group, placebo-controlled, phase 3 randomized VIABLE study of 1,182 patients with mCRPC who were randomly assigned to receive DCVAC/PCa plus chemotherapy followed by DCVAC/PCa (n = 787) or placebo (n = 395).
Disclosures: This study was sponsored by Sotio a.s. The authors received research funding, grants, personal/advisory/consulting fees, and nonfinancial support or had stock ownership or patents.
Source: Vogelzang NJ et al. JAMA Oncol. 2022 (Feb 10). Doi: 10.1001/jamaoncol.2021.7298.
Key clinical point: The addition of dendritic cell vaccine immunotherapy for prostate cancer (DCVAC/PCa) to chemotherapy followed by DCVAC/PCa maintenance therapy does not extend overall survival in patients with metastatic castration-resistant prostate cancer (mCRPC).
Major finding: The overall survival was not significantly different between the DCVAC/PCa and placebo groups (median 23.9 months vs. 24.3 months; hazard ratio 1.04; P = .60). The treatment-emergent adverse event rate was 9.2% in the DCVAC/PCa group and 12.7% in the placebo group.
Study details: A double-blind, parallel-group, placebo-controlled, phase 3 randomized VIABLE study of 1,182 patients with mCRPC who were randomly assigned to receive DCVAC/PCa plus chemotherapy followed by DCVAC/PCa (n = 787) or placebo (n = 395).
Disclosures: This study was sponsored by Sotio a.s. The authors received research funding, grants, personal/advisory/consulting fees, and nonfinancial support or had stock ownership or patents.
Source: Vogelzang NJ et al. JAMA Oncol. 2022 (Feb 10). Doi: 10.1001/jamaoncol.2021.7298.
Key clinical point: The addition of dendritic cell vaccine immunotherapy for prostate cancer (DCVAC/PCa) to chemotherapy followed by DCVAC/PCa maintenance therapy does not extend overall survival in patients with metastatic castration-resistant prostate cancer (mCRPC).
Major finding: The overall survival was not significantly different between the DCVAC/PCa and placebo groups (median 23.9 months vs. 24.3 months; hazard ratio 1.04; P = .60). The treatment-emergent adverse event rate was 9.2% in the DCVAC/PCa group and 12.7% in the placebo group.
Study details: A double-blind, parallel-group, placebo-controlled, phase 3 randomized VIABLE study of 1,182 patients with mCRPC who were randomly assigned to receive DCVAC/PCa plus chemotherapy followed by DCVAC/PCa (n = 787) or placebo (n = 395).
Disclosures: This study was sponsored by Sotio a.s. The authors received research funding, grants, personal/advisory/consulting fees, and nonfinancial support or had stock ownership or patents.
Source: Vogelzang NJ et al. JAMA Oncol. 2022 (Feb 10). Doi: 10.1001/jamaoncol.2021.7298.
Can first‐trimester HbA1c levels offer effective GDM diagnosis?
Key clinical point: Although high first‐trimester glycated hemoglobin (HbA1c) levels are predictive of gestational diabetes mellitus (GDM), they cannot ensure effective GDM diagnosis owing to subpar sensitivity or specificity.
Main finding: An HbA1c cutoff value of 4.85% ruled out GDM with a diagnostic sensitivity, specificity, negative predictive value (NPV), and positive predictive value (PPV) of 92.2%, 32.8%, 95.5%, and 21.2%, respectively, whereas HbA1c cutoff value of 5.45% for diagnosing GDM decreased sensitivity (54.8%) while increasing specificity (96.8%), with the NPV and PPV being 91.5% and 76.8%, respectively.
Study details: The data are derived from a single-center prospective study including 700 singleton pregnant women over 18 years of age who did not have type I or II diabetes mellitus.
Disclosures: The study was not funded by any source. The authors reported having no conflicts of interest.
Source: Valadan M et al. BMC Pregnancy Childbirth. 2022;22:71 (Jan 27). Doi: 10.1186/s12884-021-04330-2.
Key clinical point: Although high first‐trimester glycated hemoglobin (HbA1c) levels are predictive of gestational diabetes mellitus (GDM), they cannot ensure effective GDM diagnosis owing to subpar sensitivity or specificity.
Main finding: An HbA1c cutoff value of 4.85% ruled out GDM with a diagnostic sensitivity, specificity, negative predictive value (NPV), and positive predictive value (PPV) of 92.2%, 32.8%, 95.5%, and 21.2%, respectively, whereas HbA1c cutoff value of 5.45% for diagnosing GDM decreased sensitivity (54.8%) while increasing specificity (96.8%), with the NPV and PPV being 91.5% and 76.8%, respectively.
Study details: The data are derived from a single-center prospective study including 700 singleton pregnant women over 18 years of age who did not have type I or II diabetes mellitus.
Disclosures: The study was not funded by any source. The authors reported having no conflicts of interest.
Source: Valadan M et al. BMC Pregnancy Childbirth. 2022;22:71 (Jan 27). Doi: 10.1186/s12884-021-04330-2.
Key clinical point: Although high first‐trimester glycated hemoglobin (HbA1c) levels are predictive of gestational diabetes mellitus (GDM), they cannot ensure effective GDM diagnosis owing to subpar sensitivity or specificity.
Main finding: An HbA1c cutoff value of 4.85% ruled out GDM with a diagnostic sensitivity, specificity, negative predictive value (NPV), and positive predictive value (PPV) of 92.2%, 32.8%, 95.5%, and 21.2%, respectively, whereas HbA1c cutoff value of 5.45% for diagnosing GDM decreased sensitivity (54.8%) while increasing specificity (96.8%), with the NPV and PPV being 91.5% and 76.8%, respectively.
Study details: The data are derived from a single-center prospective study including 700 singleton pregnant women over 18 years of age who did not have type I or II diabetes mellitus.
Disclosures: The study was not funded by any source. The authors reported having no conflicts of interest.
Source: Valadan M et al. BMC Pregnancy Childbirth. 2022;22:71 (Jan 27). Doi: 10.1186/s12884-021-04330-2.
Copresence of amniotic fluid sludge and a short cervix affects preterm birth in women with cerclage
Key clinical point: Presence of amniotic fluid sludge (AFS) in the midtrimester may serve as an additional ultrasound index for predicting preterm birth in women with a short cervical length (CL; ≤25 mm) who have undergone cervical cerclage.
Main finding: In patients who underwent cerclage, AFS and short CL were associated with preterm birth at <28 weeks and <36 weeks (all P < .05). In women with a short CL, the presence of AFS was significantly associated with short gestational age at delivery even after adjusting for possible confounders (adjusted hazard ratio 2.45; 95% CI 1.7-3.5).
Study details: This was a single-center retrospective cohort study involving 296 singleton pregnant women who underwent McDonald cerclage for cervical insufficiency, transvaginal ultrasound-diagnosed short CL, or cervical dilatation with amniotic sac bulging, followed by evaluation of the presence of AFS and CL at 14-24 weeks of gestation within 2 weeks after cerclage.
Disclosures: The authors reported no source of funding or conflict of interests concerning the study.
Source: Huang Y et al. J Ultrasound Med. 2022 (Feb 2). Doi: 10.1002/jum.15952.
Key clinical point: Presence of amniotic fluid sludge (AFS) in the midtrimester may serve as an additional ultrasound index for predicting preterm birth in women with a short cervical length (CL; ≤25 mm) who have undergone cervical cerclage.
Main finding: In patients who underwent cerclage, AFS and short CL were associated with preterm birth at <28 weeks and <36 weeks (all P < .05). In women with a short CL, the presence of AFS was significantly associated with short gestational age at delivery even after adjusting for possible confounders (adjusted hazard ratio 2.45; 95% CI 1.7-3.5).
Study details: This was a single-center retrospective cohort study involving 296 singleton pregnant women who underwent McDonald cerclage for cervical insufficiency, transvaginal ultrasound-diagnosed short CL, or cervical dilatation with amniotic sac bulging, followed by evaluation of the presence of AFS and CL at 14-24 weeks of gestation within 2 weeks after cerclage.
Disclosures: The authors reported no source of funding or conflict of interests concerning the study.
Source: Huang Y et al. J Ultrasound Med. 2022 (Feb 2). Doi: 10.1002/jum.15952.
Key clinical point: Presence of amniotic fluid sludge (AFS) in the midtrimester may serve as an additional ultrasound index for predicting preterm birth in women with a short cervical length (CL; ≤25 mm) who have undergone cervical cerclage.
Main finding: In patients who underwent cerclage, AFS and short CL were associated with preterm birth at <28 weeks and <36 weeks (all P < .05). In women with a short CL, the presence of AFS was significantly associated with short gestational age at delivery even after adjusting for possible confounders (adjusted hazard ratio 2.45; 95% CI 1.7-3.5).
Study details: This was a single-center retrospective cohort study involving 296 singleton pregnant women who underwent McDonald cerclage for cervical insufficiency, transvaginal ultrasound-diagnosed short CL, or cervical dilatation with amniotic sac bulging, followed by evaluation of the presence of AFS and CL at 14-24 weeks of gestation within 2 weeks after cerclage.
Disclosures: The authors reported no source of funding or conflict of interests concerning the study.
Source: Huang Y et al. J Ultrasound Med. 2022 (Feb 2). Doi: 10.1002/jum.15952.
Predictive value of NIPT-plus differs with maternal age
Key clinical point: Expanded noninvasive prenatal testing (NIPT-plus) is better at predicting fetal chromosome abnormalities in pregnant women of advanced maternal age (AMA) than in those of young maternal age (YMA).
Main finding: The positive predictive value of NIPT-plus in AMA pregnancies vs. YMA pregnancies was 57.6% vs. 35.7% (P < .05) for sex chromosome aneuploidies (SCA) and 77.8% vs. 51.9% (P < .05) for chromosome aneuploidies, including trisomies 21, 18, and 13, and SCAs.
Study details: The data come from a retrospective cohort study including 448 pregnant women with screen-positive results by NIPT-plus for fetal chromosome abnormality in the second trimester, who underwent prenatal diagnosis, of which 27% were AMA pregnancies.
Disclosures: The study was funded by the National Nature Science Foundation of China. None of the authors reported having a conflicts of interests.
Source: Chen Y et al. Am J Med Genet A. 2022 (Feb 2). Doi: 10.1002/ajmg.a.62657.
Key clinical point: Expanded noninvasive prenatal testing (NIPT-plus) is better at predicting fetal chromosome abnormalities in pregnant women of advanced maternal age (AMA) than in those of young maternal age (YMA).
Main finding: The positive predictive value of NIPT-plus in AMA pregnancies vs. YMA pregnancies was 57.6% vs. 35.7% (P < .05) for sex chromosome aneuploidies (SCA) and 77.8% vs. 51.9% (P < .05) for chromosome aneuploidies, including trisomies 21, 18, and 13, and SCAs.
Study details: The data come from a retrospective cohort study including 448 pregnant women with screen-positive results by NIPT-plus for fetal chromosome abnormality in the second trimester, who underwent prenatal diagnosis, of which 27% were AMA pregnancies.
Disclosures: The study was funded by the National Nature Science Foundation of China. None of the authors reported having a conflicts of interests.
Source: Chen Y et al. Am J Med Genet A. 2022 (Feb 2). Doi: 10.1002/ajmg.a.62657.
Key clinical point: Expanded noninvasive prenatal testing (NIPT-plus) is better at predicting fetal chromosome abnormalities in pregnant women of advanced maternal age (AMA) than in those of young maternal age (YMA).
Main finding: The positive predictive value of NIPT-plus in AMA pregnancies vs. YMA pregnancies was 57.6% vs. 35.7% (P < .05) for sex chromosome aneuploidies (SCA) and 77.8% vs. 51.9% (P < .05) for chromosome aneuploidies, including trisomies 21, 18, and 13, and SCAs.
Study details: The data come from a retrospective cohort study including 448 pregnant women with screen-positive results by NIPT-plus for fetal chromosome abnormality in the second trimester, who underwent prenatal diagnosis, of which 27% were AMA pregnancies.
Disclosures: The study was funded by the National Nature Science Foundation of China. None of the authors reported having a conflicts of interests.
Source: Chen Y et al. Am J Med Genet A. 2022 (Feb 2). Doi: 10.1002/ajmg.a.62657.
Exome sequencing: A tool to explore the molecular defects of callosal anomalies
Key clinical point: Diagnostic exome sequencing may enable the characterization of the molecular defects underlying unexplained callosal anomalies (CA) and potentially reduce the number of prenatally undiagnosed cases.
Main finding: A total of 17 pathogenic/likely pathogenic variants in 14 genes from 17 fetuses were identified, with the proportion of diagnostic genetic variants being 34%. Genetic variants were diagnosed in 29.4% and 43.8% of fetuses with isolated and nonisolated CA, respectively.
Study details: This single-center cohort study analyzed 50 fetuses with CA, with (n = 16) or without (n = 34) other structural abnormalities, but with normal karyotyping and chromosomal microarray analysis findings.
Disclosures: The study was sponsored by the National Natural Science Foundation of China, Natural Science Foundation of Guangdong Province, Project of Guangzhou Science and Technology, and Project of Guangdong Medical Science and Technology Research. No conflicts of interest were declared.
Source: Lei TY et al. Prenat Diagn. 2022 (Jan 28). Doi: 10.1002/pd.6107.
Key clinical point: Diagnostic exome sequencing may enable the characterization of the molecular defects underlying unexplained callosal anomalies (CA) and potentially reduce the number of prenatally undiagnosed cases.
Main finding: A total of 17 pathogenic/likely pathogenic variants in 14 genes from 17 fetuses were identified, with the proportion of diagnostic genetic variants being 34%. Genetic variants were diagnosed in 29.4% and 43.8% of fetuses with isolated and nonisolated CA, respectively.
Study details: This single-center cohort study analyzed 50 fetuses with CA, with (n = 16) or without (n = 34) other structural abnormalities, but with normal karyotyping and chromosomal microarray analysis findings.
Disclosures: The study was sponsored by the National Natural Science Foundation of China, Natural Science Foundation of Guangdong Province, Project of Guangzhou Science and Technology, and Project of Guangdong Medical Science and Technology Research. No conflicts of interest were declared.
Source: Lei TY et al. Prenat Diagn. 2022 (Jan 28). Doi: 10.1002/pd.6107.
Key clinical point: Diagnostic exome sequencing may enable the characterization of the molecular defects underlying unexplained callosal anomalies (CA) and potentially reduce the number of prenatally undiagnosed cases.
Main finding: A total of 17 pathogenic/likely pathogenic variants in 14 genes from 17 fetuses were identified, with the proportion of diagnostic genetic variants being 34%. Genetic variants were diagnosed in 29.4% and 43.8% of fetuses with isolated and nonisolated CA, respectively.
Study details: This single-center cohort study analyzed 50 fetuses with CA, with (n = 16) or without (n = 34) other structural abnormalities, but with normal karyotyping and chromosomal microarray analysis findings.
Disclosures: The study was sponsored by the National Natural Science Foundation of China, Natural Science Foundation of Guangdong Province, Project of Guangzhou Science and Technology, and Project of Guangdong Medical Science and Technology Research. No conflicts of interest were declared.
Source: Lei TY et al. Prenat Diagn. 2022 (Jan 28). Doi: 10.1002/pd.6107.