Prenatal Phenotype of Alkuraya-Kucinskas Syndrome: A Novel Case and Systematic Literature Review.

Alkuraya-Kucinskas syndrome (AKS) is an autosomal recessive multisystem disorder resulting from mutations in the BLTP1 gene, formerly known as KIAA1109. Primary manifestations include brain malformations, arthrogryposis, and clubfeet. Cardiac, renal, and ophthalmologic abnormalities may also be observed, while nonimmune hydrops is rare. We present a case of two novel BLTP1 canonical splice-site variants in a fetus with multiple congenital anomalies, including hydrops, a kinked brainstem, and joint contractures. A systematic literature review was conducted to describe the prenatal phenotype of AKS, which was inspired by our case. Our systematic literature review of the prenatal phenotype in 19 cases, including our additional case, demonstrated joint contractures in 90% (18/20), ventriculomegaly in 60% (12/20), brainstem dysgenesis in 50% (10/20), cerebellar hypoplasia in 50% (10/20), parenchymal thinning with lissencephalic aspect in 60% (12/20), and facial dysmorphism in 70% (14/20) of reported AKS cases. In addition to our case, hydrops was reported in two other families. AKS should be considered in fetal presentations with characteristic features, especially brainstem kinking and joint contractures. Exome sequencing, including coverage of canonical intronic splice-site variants, can clarify the diagnosis. TRIAL REGISTRATION: ClinicalTrials.gov registration: NCT03911531.

Propranolol to decrease time to delivery: a meta-analysis of randomized controlled trials.

OBJECTIVE: To assess the effect of propranolol on time to delivery among patients undergoing induction or augmentation of labor. DATA SOURCES: PubMed, Scopus, Cochrane Library, ClinicalTrials.gov, and CINAHL (EBSCO) were searched from inception to December 2023. STUDY ELIGIBILITY CRITERIA: Randomized controlled trials (RCTs) that examined the impact of propranolol on time to delivery among patients undergoing induction or augmentation of labor were included. RCTs that included stillbirth before randomization, non-randomized trials, observational, cohort, case control, or studies in which the control group included an intervention other than standard care were excluded. STUDY APPRAISAL AND SYNTHESIS METHODS: Primary outcome was time to delivery after administration of propranolol among patients undergoing induction or augmentation of labor. The summary measures were reported as summary mean difference (MD) or relative risk with 95% confidence interval (CI). RESULTS: Nine RCTs including 1,182 patients were included in this meta-analysis. Five studies investigated the effect of propranolol among patients undergoing induction of labor (IOL) and demonstrated a significant decrease in time to delivery (MD, -91.5 minutes, 95% CI -110.6 to -72.4). Four studies investigated the effect of propranolol among patients undergoing augmentation of labor and showed no significant decrease in time to delivery (MD, -2.98 minutes, 95% CI -21.6 to 15.6). Our pooled analysis demonstrated that the use of propranolol in IOL and augmentation was associated with a decrease in time to delivery from administration of propranolol compared to placebo (mean difference, -46.15 minutes, 95% CI -59.48 to -32.81). The meta-analysis found no increased risk of PPH, blood transfusion, cesarean delivery rates, or NICU admission with the use of propranolol during labor. CONCLUSION: The use of propranolol during induction of labor shortens overall time to delivery by about 91 minutes and did not significantly decrease time to delivery in those undergoing augmentation of labor.

Recombinant erythropoietin for the treatment of iron deficiency anemia in pregnancy: A systematic review.

BACKGROUND: Treatment options for severe, refractory iron deficiency anemia are limited in pregnancy. OBJECTIVE: To review the available literature on the use of recombinant erythropoietin in the treatment of iron deficiency anemia in pregnancy. SEARCH STRATEGY: An electronic search of seven databases from inception to March 2022 was performed using a combination of keywords. SELECTION CRITERIA: We included all randomized controlled or observational studies of pregnant patients with iron deficiency anemia who received recombinant erythropoietin or control. The primary outcome was a change in hematologic parameters (hemoglobin or hematocrit) after treatment. Studies were appraised using the criteria outlined in the Cochrane Handbook for Systematic Reviews of Interventions. DATA COLLECTION AND ANALYSIS: Data were summarized using narrative synthesis and descriptive statistics as appropriate. This study was registered with PROSPERO, CRD42022313328. MAIN RESULTS: Of 234 studies screened, five studies met the inclusion criteria and had sufficient data for analysis (n = 103 recombinant erythropoietin and n = 104 controls). All patients in the intervention group received iron supplementation (intravenous or oral) in addition to recombinant erythropoietin. All patients in the control group received iron supplementation (intravenous or oral) alone. As the result of variance between studies in inclusion criteria, the timing of repeat blood draws, and data reporting, a meta-analysis could not be performed. Three studies found that serial recombinant erythropoietin combined with iron supplementation was more effective at raising hematologic laboratory parameters (hemoglobin or hematocrit) than iron alone. One study reported no difference in hemoglobin or hematocrit levels between groups at day 28. However, patients in this study only received one dose of recombinant erythropoietin, whereas those in the other studies received serial doses. Another study also found no difference in hemoglobin levels by day 28, but patients in the recombinant erythropoietin group had lower hemoglobin levels at baseline and a more rapid rise in hemoglobin than iron alone. This is demonstrated by a more significant rise in hemoglobin at day 11 in the recombinant erythropoietin group than in the control group. CONCLUSIONS: Serial recombinant erythropoietin administration and iron supplementation may be more effective at treating refractory iron deficiency anemia in pregnancy than iron supplementation alone.

Cord blood troponin I levels: biomarker evidence of fetal cardiac injury in intrahepatic cholestasis of pregnancy.

BACKGROUND: Intrahepatic cholestasis of pregnancy has been linked to sudden stillbirth. The suddenness of the stillbirths in these cases have led clinicians to suspect that the pathogenesis of stillbirth in women with intrahepatic cholestasis of pregnancy is not related to asphyxia but rather to an undefined etiology. One leading hypothesis relates certain bile acid metabolites to myocardial injury. OBJECTIVE: The purpose of this study was to determine whether cord blood troponin I levels are increased in fetuses born to mothers with a diagnosis of intrahepatic cholestasis of pregnancy. STUDY DESIGN: A prospective, case-control study was performed at a single institution between 2017 to 2019 in which 87 pregnant patients with a diagnosis of intrahepatic cholestasis of pregnancy (total bile acids ≥10 µmol/L) were enrolled as cases and 122 randomly selected pregnant patients (asymptomatic with intrapartum total bile acids <10 µmol/L) were enrolled as controls. Cord blood troponin I levels were measured at delivery in both groups using a commercially available chemiluminescent immunoassay. Values ≤0.04 ng/mL were considered negative. Values >0.04 ng/mL were considered positive. The primary outcome was the presence of elevated troponin levels in both cases and controls as a surrogate marker for cardiac status. Our secondary outcomes included neonatal intensive care unit stay, low Apgar scores, neonatal acidosis, and hypoxia indicated by cord blood pH and base excess levels at the time of birth. Chi square and t tests were performed to compare social and obstetrical variables. A P value of <.05 was considered significant. A stratification by total bile acids range of <40 µmol/L, 40 to 100 µmol/L, and >100 µmol/L was performed to assess the relationship between the different severities of intrahepatic cholestasis of pregnancy (by risk of fetal demise with those with total bile acids of >100 µmol/L considered at greatest risk) and the likelihood of a positive troponin I result. Finally, a logistic regression analysis was performed to determine if levels of ≥10 µmol/L were associated with elevated troponin levels. RESULTS: The mean gestational age at delivery was 38.96±1.47 and 37.71±1.59 weeks of gestation in the controls and cases respectively (P<.001). The mean total bile acids values were 5.2±1.28 ng/mL and 43.2±40.62 ng/mL in the controls and cases respectively (P<.001). Cord blood troponin I was positive in 15 of 122 (12.30%) controls and in 20 of 87 (22.99%) cases. (P<.001). When further stratified by total bile acids levels of <40, 40 to 100, and >100 µmol/L, we found a positive correlation between higher total bile acids levels and a positive troponin I test (P=.002). When controlling for gestational age at delivery, maternal age, and body mass index, higher total bile acids levels were associated with a positive troponin I level (adjusted odds ratio, 1.015; 95% confidence interval, 1.004-1.026). CONCLUSION: Elevated troponin I was more likely to be found in patients with intrahepatic cholestasis of pregnancy than in those without intrahepatic cholestasis of pregnancy. When stratified by total bile acids levels, a positive troponin I level was more likely to be found with higher levels of total bile acids. In addition, as total bile acids levels increased, they were more likely to be associated with a positive troponin I level. Although there were no stillbirths in our cohort, our findings suggest a potential relationship between cardiac injury and high levels of total bile acids demonstrated by the presence of elevated troponin I levels in cord blood at the time of birth.

Glucose-6-phosphate dehydrogenase deficiency as a cause for nonimmune hydrops fetalis and severe fetal anemia: A systematic review.

BACKGROUND: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked recessive disorder that predisposes individuals to hemolysis due to an inborn error of metabolism. We performed a systematic literature review to evaluate G6PD deficiency as a possible etiology of nonimmune hydrops fetalis (NIHF) and severe fetal anemia. METHODS: PubMed, OVID Medline, Scopus, and clinicaltrials.gov were queried from inception until 31 April 2023 for all published cases of NIHF and severe fetal anemia caused by G6PD deficiency. Keywords included "fetal edema," "hydrops fetalis," "glucose 6 phosphate dehydrogenase deficiency," and "fetal anemia." Cases with workup presuming G6PD deficiency as an etiology for NIHF and severe fetal anemia were included. PRISMA guidelines were followed. RESULTS: Five cases of G6PD-related NIHF and one case of severe fetal anemia were identified. Four fetuses (4/6, 66.7%) were male and two fetuses (2/6, 33.3%) were female. Mean gestational age at diagnosis of NIHF/anemia and delivery was 32.2 ± 4.9 and 35.7 ± 2.4 weeks, respectively. Four cases (66.7%) required a cordocentesis for fetal transfusion, and two cases (33.3%) received blood transfusions immediately following delivery. Among the four multigravida cases, two (50%) noted previous pregnancies complicated by neonatal anemia. When reported, the maternal cases included two G6PD deficiency carrier patients and two G6PD-deficient patients. Exposures to substances known to cause G6PD deficiency-related hemolysis occurred in 3/6 (50%) cases. CONCLUSION: Six cases of NIHF/severe fetal anemia were associated with G6PD deficiency. While G6PD deficiency is an X-linked recessive condition, female fetuses can be affected. Fetal G6PD deficiency testing can be considered if parental history indicates, particularly if the standard workup for NIHF is negative.

One-step vs 2-step gestational diabetes mellitus screening and pregnancy outcomes: an updated systematic review and meta-analysis.

OBJECTIVE: This was a systematic review and meta-analysis comparing maternal and neonatal outcomes of patients screened with the 1-step or 2-step screening method for gestational diabetes mellitus. DATA SOURCES: PubMed, Scopus, Cochrane, ClinicalTrials.gov, and LILACS were searched from inception up to September 2022. STUDY ELIGIBILITY CRITERIA: Only randomized controlled trials were included. Studies that had overlapping populations were excluded (International Prospective Register of Systematic Review registration number: CRD42022358903). METHODS: Risk ratios were computed with 95% confidence intervals by 2 authors. Unpublished data were requested. Large for gestational age was the primary outcome. RESULTS: The search yielded 394 citations. Moreover, 7 randomized controlled trials met the inclusion criteria. A total of 54,650 participants were screened for gestational diabetes mellitus by either the 1-step screening method (n=27,163) or the 2-step screening method (n=27,487). For large for gestational age, there was no significant difference found between the groups (risk ratio, 0.99; 95% confidence interval, 0.93-1.05; I2=0%). Newborns of patients who underwent 1-step screening had higher rates of neonatal hypoglycemia (risk ratio, 1.24; 95% confidence interval, 1.14-1.34; I2=0%) and neonatal intensive care unit admissions (risk ratio, 1.13; 95% confidence interval, 1.04-1.21; I2=0%) than newborns of patients who underwent 2-step screening. Patients in the 1-step screening method group were more likely to be diagnosed with gestational diabetes mellitus (risk ratio, 1.73; 95% confidence interval, 1.44-2.09; I2=80%) than patients in the 2-step screening method group. In addition, among trials that tested all patients before randomization and excluded patients with pregestational diabetes mellitus, newborns were more likely to have macrosomia (risk ratio, 1.27; 95% confidence interval, 1.21-1.34; I2=0%). Overall risk of bias assessment was of low concern. CONCLUSION: Large for gestational age did not differ between patients screened using the 1-step screening method and those screened using the 2-step screening method. However, patients randomized to the 1-step screening method had higher rates of neonatal hypoglycemia and neonatal intensive care unit admission and maternal gestational diabetes mellitus diagnosis than the patients randomized to the 2-step screening method.

Antenatal steroids and neonatal outcomes in late preterm births with pregestational diabetes.

OBJECTIVE: To evaluate if antenatal steroid use was associated with a lower rate of respiratory complications in neonates born late preterm to patients with pregestational diabetes mellitus (PGDM). METHODS: This was a retrospective cohort study of live, singleton, non-anomalous, late preterm births complicated by PGDM using data from the Centers for Disease Control and National Vital Statistics System from 2017 to 2021. The primary (assisted ventilation use >6 h) and secondary neonatal outcomes (immediate assisted ventilation, Apgar score, neonatal intensive care unit [NICU] admission, and surfactant use) were compared between births that received steroids and those that did not. Multivariable analyses were performed to adjust for differences in demographic and clinical characteristics. RESULTS: There were 24 323 late preterm births with PGDM, of which 4613 received antenatal steroids and 19 710 did not receive steroids. After adjusting for the differences among the two groups, the need for assisted neonatal ventilation for more than 6 h (adjusted odds ratio [aOR] 1.69, 95% confidence interval [CI] 1.53-1.86), immediate assisted neonatal ventilation (aOR 1.67, 95% CI 1.55-1.80), NICU admission (aOR 1.95, 95% CI 1.81-2.10), and surfactant use (aOR 1.68, 95% CI 1.40-2.02) were higher in the births that received steroids compared with those that did not. These findings did not differ when examining outcomes at each gestational week of delivery between 34 weeks 0 days and 36 weeks 6 days. CONCLUSIONS: Antenatal steroid use in late preterm births complicated with PGDM was associated with worse immediate respiratory neonatal outcomes. Our findings support current recommendations against the use of steroids in the late preterm period in pregnancies with PGDM.

Changes in Rates of Hypertensive Disorders of Pregnancy Among Nulliparous Patients After the ARRIVE (A Randomized Trial of Induction Versus Expectant Management) Trial.

The ARRIVE (A Randomized Trial of Induction Versus Expectant Management) trial demonstrated lower rates of hypertensive disorders of pregnancy (HDP) among low-risk nulliparous patients undergoing labor induction at 39 weeks of gestation. We conducted a population-based cohort study in which we evaluated the association between the routinization of 39-week induction and the rate of HDP by comparing rates before and after the ARRIVE trial publication, using the National Vital Statistics System. Logistic regression models were used to project what the HDP rate would have been based on trends seen pre-ARRIVE. Despite an overall increase in the rate of HDP from pre-ARRIVE to post-ARRIVE (4.9% pre vs 6.3% post, adjusted odds ratio [aOR] 1.26, 95% CI 1.24-1.27), the HDP rate was significantly lower in the post-ARRIVE group among patients undergoing induction at 39 weeks of gestation (14.7% pre vs 14.1% post, aOR 0.91, 95% CI 0.90-0.93), decreasing by 12.0% per year (P<.001). The rate of HDP among all other delivering patients was higher in the post-ARRIVE group (4.1% pre vs 5.5% post, aOR1.32, 95% CI 1.30-1.34). Our findings may suggest that, as the overall HDP rate rises, the relative advantage of 39-week induction will rise similarly.

Connecting the dots: Carrier screening and the Genetic Information Nondiscrimination Act in the United States.

OBJECTIVE: To highlight the possibility of genetic discrimination in the United States with respect to carrier screening under limitations of the Genetic Information Nondiscrimination Act (GINA) and to encourage providers to educate patients about this possibility during pretest counseling. METHODS: Review of current professional guidelines and practice resources regarding the necessary components of pretest counseling for carrier screening in the context of GINA's limitations and the potential impact of carrier screening results on life, long-term care and disability insurance. RESULTS: Current practice resources advise that patients in the United States should be informed that their employer or health insurance company generally cannot use their genetic information during the underwriting process. However, these resources do not elaborate on GINA's limitations or explain why there may be adverse consequences to patients regarding these limitations. Studies have demonstrated significant gaps in provider knowledge of GINA, especially for those without formal genetic training. CONCLUSION: Enhanced education and provision of GINA educational resources for providers and patients will help ensure that patients have the opportunity to prioritize their insurance needs prior to undergoing carrier screening.

HELLP syndrome at <23 weeks' gestation: a systematic literature review.

OBJECTIVE: We performed a systematic review to evaluate the clinical presentation and maternal and fetal outcomes in pregnancies with early-onset HELLP (hemolysis, elevated liver enzymes, and low platelets) syndrome. DATA SOURCES: PubMed, Ovid MEDLINE, Scopus, CINAHL, Cochrane Library, and ClinicalTrials.gov were queried from inception through January 1, 2023 with the following terms: "HELLP syndrome," "HELLP," "hemolysis, elevated liver enzymes, low platelets," "hemolysis, elevated liver enzymes, low platelets syndrome," "pre-viable," "peri-viable," "previable," "periviable," "first trimester," "second trimester," "before 23 weeks," "<23 weeks," "<23 week gestation," and "before 23 weeks gestation." We also included an additional case from our institution. STUDY ELIGIBILITY CRITERIA: Abstracts, unpublished studies, and review articles were excluded, yielding 46 studies that met our inclusion criteria. METHODS: Two reviewers (N.S.I. and M.H.M.) performed the study selection and subsequent data extraction independently, after which the results were reviewed together. PRISMA guidelines were followed, and our study was registered at PROSPERO (CRD42021292692). RESULTS: A total of 55 patients had 58 pregnancies complicated by early-onset HELLP syndrome, including 3 with recurrent HELLP. The most common presenting signs/symptoms were abdominal pain (35/45; 78%), hypertension (32/49; 65%), nausea/vomiting (16/45; 36%), headache (13/45; 29%), and edema (8/45; 18%). Lactate dehydrogenase ≥600 IU/L was observed in 21 of 31 (68%) cases, whereas liver enzyme abnormalities and thrombocytopenia were reported in 48 of 51 (94%) and 50 of 54 (93%) cases, respectively. Maternal complications were encountered in 25 of 56 (45%) cases. The most common complications were hepatic (13/56; 23%), central nervous system-related (11/56; 20%), and respiratory (11/56; 20%). In 36 of 57 (63%) cases, pregnancy was terminated. Of the 21 continued pregnancies, early fetal death (at <20 weeks' gestation) was reported in 10 (48%), stillbirth in 6 (28%), and neonatal demise in 2 (10%). Living neonates were reported in 3 of 21 (14%) cases, all delivered at 23 weeks. The perinatal mortality rate was 73% (8/11). One case (2%) reported maternal death. Antiphospholipid syndrome was diagnosed in 14 of 29 (48%) cases. CONCLUSION: Early-onset HELLP syndrome presents with symptoms similar to those observed in later gestation. Maternal complications are life-threatening, with the most common complications being hepatic, central nervous system-related, and respiratory. Fetal outcomes are poor.

Rates of Influenza and Tdap Vaccination in Teaching and Private Obstetrical Practices, and the Influence of Vaccine Hesitancy.

OBJECTIVES: We evaluated differences in vaccination rates of patients of teaching and private practices, and explored the rate of vaccine hesitancy in pregnant women. METHODS: This was a cross-sectional study of a convenience sample of recently delivered women. Women completed a survey, which included a question about whether they received the influenza and/or Tdap vaccine, and a vaccine hesitancy scale for both influenza and Tdap vaccines. We also reviewed prenatal records to confirm vaccine administration and collected demographic data. Patients who received care on the teaching service (care by residents supervised by faculty) were compared with those who received care from 26 private practitioners in nine groups. The primary outcome was rate of vaccination. Fisher's exact test was performed to compare groups. RESULTS: Of the 231 women approached, 208 (90.0%) agreed to participate. Of the 208 participants, 70 (33.7%) had prenatal care with a teaching practice, and 138 (66.3%) with a private practice. Patients of teaching practices had a higher influenza and Tdap vaccination rate compared with patients of private practices (Influenza: 70% versus 54.3%, p = 0.036; Tdap: 77.1% versus 58.4%, p = 0.009). Among the entire cohort, 55.3% had some degree of vaccine hesitancy. This did not differ between teaching and private practices (54.3% versus 55.8%, p = 0.883). CONCLUSIONS: In spite of similar prevalence of vaccine hesitancy, pregnant women cared for in teaching practices had higher vaccination rates than those cared for in private practices.

Early screening for gestational diabetes mellitus: a meta-analysis of randomized controlled trials.

OBJECTIVE: Current evidence is conflicting on whether early screening and treatment for gestational diabetes mellitus improve pregnancy outcomes. Thus, this systematic review and meta-analysis of randomized controlled trials aimed to assess the rate of adverse pregnancy outcomes among participants with early screening and treatment for gestational diabetes mellitus vs those with routine care. DATA SOURCES: A systematic review of the literature was conducted using MEDLINE, Scopus, ClinicalTrials.gov, EMBASE, ScienceDirect, the Cochrane Library at the Central Register of Controlled Trials, and SciELO from inception to November 2021. STUDY ELIGIBILITY CRITERIA: Studies were eligible for inclusion if they described randomized controlled trials comparing early screening with routine care for gestational diabetes mellitus to assess the effects of early screening and treatment on pregnancy outcomes. METHODS: All randomized controlled trials comparing early vs standard screening of gestational diabetes mellitus assessing the effect of early screening (defined as a screening at <20 weeks of gestation) vs routine screening (defined as a screening at ≥20 weeks of gestation) on pregnancy outcomes were included. The primary outcome was defined as large for gestational age, as defined by the trial. The secondary maternal and neonatal outcomes were also evaluated. Subgroup analyses were performed on the basis of screening strategy and methods. RESULTS: After exclusion, 8 randomized clinical trials (1920 participants) of early screening and treatment vs standard care were included. There were a total of 746 participants with early gestational diabetes mellitus. The risk of large for gestational age at birth did not differ between early screening and treatment for gestational diabetes mellitus and routine care among all included trials (8.1 vs 9.0%; relative risk, 0.94; 95% confidence interval, 0.73-1.22). Trials with a protocol of universal screening of participants at their first prenatal visit (>80% screened with HbA1c) and receiving early treatment if the screening test returned positive had a lower risk of large for gestational age (2.3 vs 9.1%; relative risk, 0.29; 95% confidence interval, 0.09-0.90) than those who had routine screening and care. CONCLUSION: Overall, early screening and treatment of gestational diabetes mellitus did not reduce the risk of large for gestational age at birth. However, trials that screened all participants at their first visit and treated early, most for an HbA1c of 5.7% to 6.4%, had a reduced risk of large for gestational age at birth compared with routine care, suggesting a possible benefit of screening all pregnant patients. However, future well-designed trials are needed to confirm these findings.

Change in prevalence of chronic hypertension in pregnancy after the updated ACC/AHA hypertension guidelines.

The objective of this population-based retrospective study was to determine the effect of the updated hypertension definition by the American College of Cardiology (ACC) and the American Heart Association (AHA) on the prevalence of chronic hypertension (CHTN) diagnosis in pregnancy. The pre-ACC/AHA group (N = 14,505,399) consisted of births between 2013 and 2016 and the post-ACC/AHA group (N = 7,269,010) consisted of births between 2018 and 2019. After adjusting for differences between groups, CHTN diagnosis was more common in the post-ACC/AHA group (p < 0.001). In conclusion, the prevalence of CHTN diagnosis in pregnancy increased after the new ACC/AHA guidelines publication.

The ability of a low value on an early GCT to identify women not needing repeat testing in the second trimester.

OBJECTIVE: To evaluate the predictive value of a low early glucose challenge test (GCT) in ruling out a subsequent diagnosis of gestational diabetes in the second trimester. METHODS: This was a retrospective cohort study of women at a single clinic who had a normal early GCT between 2016 and 2020. Patients who did not have repeat screening in the late second trimester were excluded. Demographic data were extracted from the record. The primary outcome was a normal GCT or glucose tolerance test in the late second trimester. Logistic regression and receiver operator curves (ROC) were performed to assess the ability of the early GCT value to predict subsequent normal glucose screening. RESULTS: Of the 532 pregnant persons with normal early GCT, 62 (11.7%) were subsequently diagnosed with gestational diabetes in the second trimester. None of the patients (N = 56), who had a GCT value less than 80 mg/dL were diagnosed with gestational diabetes in the second trimester. The prediction of subsequent normal screening using the early GCT on a ROC plot produced an area under the curve (AUC) of 0.67, 95% CI (0.60-0.74). Adding age, prior history of gestational diabetes and family history of diabetes mellitus to the prediction, only improved the AUC to 0.75, 95% CI (0.66, 0.82). CONCLUSION: Early GCT value was a fair predictor for normal second trimester glucose testing for gestational diabetes. However, high-risk patients with an early GCT value of less than 80 mg/dL may be able to forego repeat second trimester screening.

Pre- and postpregnancy platelet counts: evaluating accuracy of gestational thrombocytopenia and immune thrombocytopenia purpura diagnoses.

BACKGROUND: Given the overlapping clinical indicators and lack of diagnostic testing, misdiagnosis of immune thrombocytopenic purpura and gestational thrombocytopenia in pregnancy may be common. Current recommendations suggest utilizing platelet nadir during pregnancy to guide diagnosis. OBJECTIVE: This study aimed to assess the accuracy of gestational thrombocytopenia and immune thrombocytopenic purpura diagnoses using pre- and postpregnancy platelet counts. STUDY DESIGN: This was a retrospective cohort study of patients diagnosed with gestational thrombocytopenia and immune thrombocytopenic purpura from January 2017 to December 2019. Platelet counts were extracted from charts and evaluated at several time periods, namely prepregnancy (within 5 years), during pregnancy, and postpartum (>6 weeks to 5 years). A diagnosis of gestational thrombocytopenia was considered inaccurate if platelet counts were <150,000/µL pre- or postpregnancy with no other apparent causes or if the platelet nadir dropped below 100,000/µL during pregnancy. A diagnosis of immune thrombocytopenic purpura was deemed inaccurate if pre- or postpregnancy platelet counts were >150,000/µL. The primary outcome was accuracy of gestational thrombocytopenia and immune thrombocytopenic purpura diagnoses in patients. Secondary outcomes included mean platelet counts during pregnancy and difference in mean platelet counts for patients with an accurate vs inaccurate diagnosis of gestational thrombocytopenia. Outcomes were summarized with descriptive statistics and compared using Student t tests. RESULTS: A total of 116 patients met the inclusion criteria of which 111 (96%) and 5 (4%) had gestational thrombocytopenia and immune thrombocytopenic purpura diagnoses, respectively. Platelet counts outside of pregnancy were available for 91 (82%) of the patients, and 66 (57%) had prepregnancy platelet counts available. Of the 91 patients, the diagnosis was considered accurate in 61 (67%) and 5 (100%) patients with gestational thrombocytopenia and immune thrombocytopenic purpura, respectively. Conversely, 30 of 35 (86%) patients with immune thrombocytopenic purpura were found to be inaccurately diagnosed with gestational thrombocytopenia after application of platelet thresholds. Among these 30 patients, 10 had a prepregnancy platelet count <150,000/µL, 12 had a postpartum platelet count <150,000/µL, 3 had a platelet count nadir <100,000/µL during pregnancy, and 7 met more than 1 criterion. Pre- and postpregnancy platelet counts and platelet count nadir differed significantly for patients with an accurate vs inaccurate diagnosis of gestational thrombocytopenia (P<.001). CONCLUSION: When pre- and postpregnancy platelet counts were checked, one-third of cases of gestational thrombocytopenia met the criteria for immune thrombocytopenic purpura and were thus incorrectly diagnosed during pregnancy. Prepregnancy platelet counts, available for most patients, should be considered when diagnosing gestational thrombocytopenia vs immune thrombocytopenic purpura.