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PURPOSE: The American College of Medical Genetics and Genomics emphasizes a "consistent and equitable approach for offering carrier screening." At our academic center, publicly insured prenatal patients underwent universal expanded carrier screening (ECS) to promote equitable care. The aim of the study was to evaluate rates, time, and barriers to complete ECS. This was defined as post-test counseling and partner testing after a patient was found heterozygous for a pathogenic variant. METHODS: In this descriptive retrospective cohort study from 2018 to 2021, patients were offered ECS, consisting of 283 recessive and X-linked genes. Heterozygotes were contacted by genetic counselors (≤5 attempts) for education and partner testing. Rates of counseling, partner testing, diagnostic procedures, follow-up times, and barriers to completion were assessed. RESULTS: During this time, 643 women underwent ECS. Of these 643 women, 462 were heterozygotes and 326 of 462 had undergone counseling. Two hundred twenty-two of 462 partners obtained testing, with a median of 32 days from patient to partner result. Approximately 21 couples were heterozygous for the same pathogenic variant. One patient pursued diagnostic testing. CONCLUSION: ECS offers useful information; however, this study highlights significant barriers to completion. There was suboptimal patient follow-up and low partner screening, perhaps from insufficient time to educate and counsel. Future directions include implementing quality measures to ensure optimal completion.
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Aconselhamento Genético , Testes Genéticos , Gravidez , Humanos , Feminino , Aconselhamento Genético/métodos , Triagem de Portadores Genéticos/métodos , Estudos Retrospectivos , Testes Genéticos/métodos , HeterozigotoRESUMO
OBJECTIVES: Placenta previa is diagnosed in up to 15% of pregnancies at the anatomy ultrasound and 0.5% persist to term. There is limited data regarding pregnancy outcomes with resolved previa. We aimed to examine patients with resolved placenta previa to determine if abnormal placentation at any time during pregnancy is associated with adverse events during labor. STUDY DESIGN: Patients with placenta previa were identified after second trimester ultrasound, included if placenta previa resolved with the placental edge greater than 2 cm from the internal cervical os, and excluded if placenta previa persisted to term, resolution occurred prior to 20 weeks, patients underwent a prior cesarean delivery, or delivered at an outside institution. Time-matched controls were identified among patients with normal placental location. Demographic data and outcomes were collected. Student's t-test, Wilcoxon's rank-sum test, Chi-square, Fisher's exact test, and univariable and multivariable logistic regression were used as appropriate RESULTS: Overall, 560 patients had placenta previa, 275 had resolved placenta previa, 285 were excluded. Resolved placenta previa patients were significantly older with lower prepregnancy body mass index (BMI), were significantly more likely to be a current smoker, have used assisted reproductive technology, and have had previous uterine surgeries. Overall, 10.2% of patients with resolved placenta previa experienced postpartum hemorrhage, compared with 2.1% in the normal placentation group. Patients with resolved placenta previa were 5.2 times more likely to have a postpartum hemorrhage (odds ratio [OR] = 5.2, 95% confidence interval [CI]: 2.1-12.7; p < 0.01) and 3.4 times more likely to require extra uterotonic medications (OR = 3.4, 95% CI: 1.9-6.2; p < 0.01). There is no difference with regard to rates of operative delivery for fetal distress (OR = 1.2, 95% CI: 0.7-1.9; p = 0.48), or category-II or-III fetal heart tracing around the time of delivery. CONCLUSION: Patients with resolved placenta previa had a higher rate of postpartum hemorrhage and use of uterotonic agents. This information might have important clinical implications and could be incorporated into the hemorrhage risk assessment during labor. KEY POINTS: · This study aimed to determine if patients with resolved placenta previa had an increased risk of expedited delivery due to fetal distress during labor.. · Patients age with resolved placenta previa have similar risk factors to those with persistent placenta previa, including older maternal, lower prepregnancy BMI, current smoking status, use of assisted reproductive technology (ART) and history of previous uterine surgeries. They were not at increased risk for operative vaginal delivery or cesarean section due to fetal distress. They did require increased uterotonic use and were at an increased risk for postpartum hemorrhage. · Patients with resolved placenta previa should undergo hemorrhage precautions at the time of admission..
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Placenta Prévia , Hemorragia Pós-Parto , Humanos , Feminino , Gravidez , Placenta Prévia/etiologia , Hemorragia Pós-Parto/epidemiologia , Hemorragia Pós-Parto/etiologia , Cesárea/efeitos adversos , Sofrimento Fetal/complicações , Placenta , Estudos RetrospectivosRESUMO
OBJECTIVE: To assess whether universal use of every-other-day glucose monitoring in patients with gestational diabetes mellitus (GDM) resulted in similar birth weights and medication use and was preferred by the patient compared with traditional daily glucose monitoring. METHODS: This was a noninferiority randomized controlled trial conducted at a single New York City hospital between April 2021 and May 2022. Patients with singleton pregnancies who were diagnosed with GDM after 20 weeks of gestation and had a minimum of 7 days of previous daily blood glucose testing were randomly assigned to test blood glucose values daily or every other day. The primary outcome was neonatal birth weight. We calculated a total sample size of 196 participants needed for noninferiority to be tested, assuming the mean birth weight in the every-other-day group, compared with the daily group, was no higher than the predefined noninferiority margin of 200 g (80% power and one-sided alpha of 0.05). Postrandomization characteristics, including blood glucose values and medication initiation and timing, were recorded. Satisfaction with treatment group was assessed using the validated Oxford Maternity Diabetes Treatment Satisfaction Questionnaire. RESULTS: A total of 197 patients were randomized: 98 in the daily group and 99 in the every-other-day group. Baseline characteristics were similar between groups. The mean neonatal birth weight was similar between groups (mean±SD 3,090±418 g among newborns in the daily group compared with 3,181±482 g among newborns in the every-other-day group). For the primary outcome, the every-other-day group was found to be noninferior to the daily group with an upper confidence limit for the mean difference in mean birth weight of 197 g, which was below the noninferiority margin of 200 g (P=.046). Postrandomization, there were no significant differences in the number of patients who required medication, the gestational age at which medication was started, or the type of medication used. Average fasting and postprandial glucose values were similar between groups. There was an increase in adherence to treatment group in those randomized to every-other-day blood sugars, but no difference in patient satisfaction. CONCLUSION: In patients with GDM, testing blood glucose values every other day was as effective as testing daily, without apparent effects on birth weight, medication initiation, or glucose control. Reduced frequency of blood glucose monitoring might help decrease the emotional, physical, and financial burden experienced by patients with GDM. CLINICAL TRIAL REGISTRATION: ClinicalTrials.gov, NCT04857073.
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OBJECTIVE: Expanded carrier screening (ECS) is rising in popularity because of its application in a diverse population, its decreasing cost, and efficiency.1 However, it has traditionally been used to assess fetal risk. The next generation sequencing ECS panel offered at our academic medical center consists of 283 genes associated with hereditary disorders. Of those, 20 (7.1%) are autosomal recessive conditions, notable for variable expression of the clinical phenotype in heterozygous carriers, which may increase maternal risk for malignancy, bleeding, cardiovascular, or rheumatologic disease. Another 21 (7.4%) are X-linked conditions. We aimed to evaluate the prevalence of variants that have a potential for maternal phenotypic expression and whether identification of specific variants prompted patients to pursue further care in our health system, namely comprehensive genetic counseling and further healthcare consults when recommended. STUDY DESIGN: An institutional review board-approved descriptive retrospective cohort study was performed in a New York City academic medical center at which reproductive aged women were offered universal ECS from 2018 to 2021 by their provider, inclusive of obstetrician-gynecologists, maternal-fetal medicine physicians, and genetic counselors. Pretest counseling was performed by the ordering provider. Patients found to carry mutations with the potential for maternal phenotypic expression were contacted by genetic counselors regarding their clinical risks. In addition, patients who were carriers for factor XI deficiency, Bernard Soulier syndrome, ataxia telangectesia, fumarase deficiency, Nijmegen breakage syndrome, Duchenne muscular dystrophy, and familial hypercholesterolemia were advised to seek specialized healthcare pertaining to their clinical risk. The genetic counseling summary was placed in the electronic medical records (EMRs) so that the primary provider could view the findings. Through our EMRs, we evaluated the rates of healthcare uptake among these patients for at least 1 year after delivery. RESULTS: In total, 168 of 1184 (14.2%) patients were identified as carriers of mutations with a potential for maternal phenotypic expression. Of these, 156 (93%) were pregnant and 12 (7%) were preconception. Of those patients, 143 (85%) were carriers of autosomal recessive traits (Figure 1), whereas 22 of 168 (13%) patients were carriers of X-linked conditions (Figure 2) and 3 of 168 (2%) patients carried both autosomal recessive traits and X-linked conditions. Of these carriers, 132 of 168 (78.6%) patients underwent genetic counseling. The most common heterozygous mutations were sickle cell trait (25.6%), thalassemia (alpha and/or beta) trait (14.2%), factor XI deficiency (4.7%), dystrophic epidermolysis bullosa (4.2%), and Alport syndrome (4.1%). Two patients were diagnosed as homozygous carriers of nonclassical congenital adrenal hyperplasia. During the study period, 23 of 168 (13.6%) patients were heterozygous for specific pathogenic variants (inclusive of factor XI, Bernard Soulier syndrome, ataxia telangectesia, fumarase deficiency, Nijmegen breakage syndrome, Duchenne muscular dystrophy, and familial hypercholesterolemia) and were advised to seek specialized healthcare pertaining to these findings. Of these, 20 (87.0%) received genetic counseling with standardized recommendations, however, only 4 of 23 (17%) patients pursued the recommended referrals during our study period. CONCLUSION: This study described the follow-up rates among patients identified as carriers of conditions with the potential for maternal phenotypic expression using ECS. We observed that 14.2% of patients who underwent ECS were identified as carriers of genetic mutations with the potential for maternal phenotypic expression, and of the 23 who were recommended specific care because a pathogenic variant was identified, only 17.4% of patients followed the recommendations. We believe that as ECS implementation becomes widespread, more maternal carriers with clinical risk to themselves will be identified. Therefore, as we open this Pandora's box, the burden of counseling and follow-up must be addressed.
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Síndrome de Bernard-Soulier , Deficiência do Fator XI , Distrofia Muscular de Duchenne , Síndrome de Quebra de Nijmegen , Gravidez , Humanos , Feminino , Triagem de Portadores Genéticos , Estudos Retrospectivos , SeguimentosRESUMO
AIM: The aim of the study was to test the safety and feasibility of a system designed to decrease the uterine contractions of human preterm labor using a weak electrical current. METHODS: Patients in preterm labor had an electrode catheter placed in the posterior vaginal fornix and attached to an electrical pacemaker. Contraction intervals were determined during the 60-min study, in which minutes 0-20 was the preintervention control period (C1); 21-40 was the electrical intervention (EI), with a 10-s burst of current administered just before each expected contraction; and 41-60 was the postintervention control (C2). Mean intervals were calculated and compared mixed-model ANOVA. RESULTS: Five patients were studied. No maternal or fetal vital sign irregularities were seen. All the babies had a normal neonatal intensive care unit stay for gestational age. The respective mean contraction intervals for C1, EI, and C2 and their within- and between-subject standard deviations were 4.64 (±0.81, ±2.45), 5.71 (±3.03, ±1.62), and 3.83 (±0.83, ±1.31) min. There was a significant difference between EI and C2 (P=0.0078) and no difference between C1 and C2 or between EI and C1 (P=0.1373). CONCLUSIONS: EI appears to be a safe and feasible method for decreasing preterm contractions. To confirm and test effectiveness, longer interventions and additional cases are needed.
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Trabalho de Parto Prematuro , Contração Uterina , Feminino , Humanos , Recém-Nascido , GravidezRESUMO
OBJECTIVE: There is no consensus for the method of aneuploidy screening in pregnancy. Cell free DNA (cfDNA) is the most sensitive screen for trisomies 21, 13, and 18, however the first trimester screen (FTS) is a marker for other adverse outcomes, such as structural anomalies, growth restriction, and preeclampsia. In 2019, we offered FTS (nuchal translucency (NT) and analytes) with or without cfDNA. The purpose of this study was to assess clinical relevance of abnormal FTS in women with normal cfDNA. METHODS: We retrospectively reviewed women undergoing screening in our Fetal Evaluation Unit in 2019. Women included had normal cfDNA and abnormal FTS; consisting of NT >95%, PAPP-A < 0.4 MoM, beta-HCG >2.5 MoM, or overall increased risk of trisomies. RESULTS: 195 patients had abnormal FTS and normal cfDNA. 41 (21%) had adverse maternal outcomes including hypertension, abnormal placentation, and placental abruption. 34 (17%) had adverse fetal outcomes including growth restriction, structural anomalies, fetal demise, polyhydramnios, previable PPROM, necrotizing enterocolitis after a preterm birth, and a balanced translocation. CONCLUSION: Abnormal FTS predicts adverse outcomes in 33% of women with normal cfDNA. Our data suggests that offering universal FTS with cfDNA may have clinical benefit.
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Ácidos Nucleicos Livres , Nascimento Prematuro , Feminino , Humanos , Recém-Nascido , Gravidez , Primeiro Trimestre da Gravidez , Trissomia/diagnóstico , Estudos Retrospectivos , Placenta , Medição da Translucência Nucal , Gonadotropina Coriônica Humana Subunidade beta , Proteína Plasmática A Associada à Gravidez , BiomarcadoresRESUMO
Intrauterine infection is a recognized cause of preterm birth. The infectious organisms are believed to originate primarily from the vaginal tract and secondarily from other parts of the body. It is plausible that microbes in the oral cavity can be transmitted to the pregnant uterus. However, direct evidence supporting such a transmission is lacking. In this study, amniotic fluids of 34 pregnant women were examined by PCR using 16S and 23S rRNA universally conserved primers. Bacterial DNA was amplified from the only patient with clinical intrauterine infection and histologic necrotizing acute and chronic chorioamnionitis. One strain, Bergeyella sp. clone AF14, was detected and was 99.7% identical to a previously reported uncultivated oral Bergeyella strain, clone AK152, at the 16S rRNA level. The same strain was detected in the subgingival plaque of the patient but not in her vaginal tract. The 16S-23S rRNA sequence of clone AF14 matched exactly with the sequences amplified from the patient's subgingival plaque. These observations suggest that the Bergeyella strain identified in the patient's intrauterine infection originated from the oral cavity. This is the first direct evidence of oral-utero microbial transmission. The patient's periodontal health during pregnancy was unclear. She did not have detectable periodontal disease during postpartum examination. Bergeyella spp. had not been previously associated with preterm birth and were detected in subgingival plaque of women without clinical levels of intrauterine infection. Uncultivated species may be overlooked opportunistic pathogens in preterm birth. This study sheds new light on the implication of oral bacteria in preterm birth.