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2.
Clin Infect Dis ; 2021 Nov 17.
Artigo em Inglês | MEDLINE | ID: mdl-34791093

RESUMO

BACKGROUND: The purpose of this study was to estimate prevalence of asymptomatic SARS-CoV-2 infection among patients admitted to obstetric inpatient units throughout the United States as detected by universal screening. We sought to describe the relationship between obstetric inpatient asymptomatic infection rates and publicly available surrounding community infection rates. METHODS: This was a cross-sectional study in which medical centers reported rates of positive SARS-CoV-2 testing in asymptomatic pregnant and immediate postpartum patients over a 1-3-month time span in 2020. Publicly reported SARS-CoV-2 case rates from the relevant county and state for each center were collected from the COVID Act Now dashboard and the COVID Tracking Project for correlation analysis. RESULTS: Data were collected from nine health centers, encompassing 18 hospitals. Participating health centers were located in Alabama, California, Illinois, Louisiana, New Jersey, North Carolina, Pennsylvania, Rhode Island, Utah, and Washington State. Each hospital had an active policy for universal SARS-CoV-2 testing on obstetric inpatient unit. A total of 10,147 SARS-CoV-2 tests were administered, of which 124 were positive (1.2%). Positivity rates varied by site, ranging from 0-3.2%. While SARS-CoV-2 infection rates were lower in asymptomatic obstetric inpatient groups than the surrounding communities, there was a positive correlation between positivity rates in obstetric inpatient units and their surrounding county (p=.003, r=.782) and state (p=.007, r=.708). CONCLUSIONS: Given the correlation between community and obstetric inpatient rates, the necessity of SARS-CoV-2 related healthcare resource utilization in obstetric inpatient units may be best-informed by surrounding community infection rates.

3.
Contraception ; 2021 Nov 03.
Artigo em Inglês | MEDLINE | ID: mdl-34740602

RESUMO

Pain is a complex phenomenon that involves more than a simple physical response to external stimuli. In maternal-fetal surgical procedures, fetal analgesia is used primarily to blunt fetal autonomic responses and minimize fetal movement. The purpose of this Consult is to review the literature on what is known about the potential for fetal awareness of pain and to discuss the indications for and the risk-benefit calculus involved in the use of fetal anesthesia and analgesia. The recommendations by the Society for Maternal-Fetal Medicine are as follows: (1) we suggest that fetal paralytic agents be considered in the setting of intrauterine transfusion, if needed, for the purpose of decreasing fetal movement (GRADE 2C); (2) although the fetus is unable to experience pain at the gestational age when procedures are typically performed, we suggest that opioid analgesia should be administered to the fetus during invasive fetal surgical procedures to attenuate acute autonomic responses that may be deleterious, avoid long-term consequences of nociception and physiological stress on the fetus, and decrease fetal movement to enable the safe execution of procedures (GRADE 2C); and (3) due to maternal risk and a lack of evidence supporting benefit to the fetus, we recommend against the administration of fetal analgesia at the time of pregnancy termination (GRADE 1C).

4.
Clin Obstet Gynecol ; 64(4): 850-851, 2021 12 01.
Artigo em Inglês | MEDLINE | ID: mdl-34608016
5.
Clin Obstet Gynecol ; 64(4): 852-860, 2021 12 01.
Artigo em Inglês | MEDLINE | ID: mdl-34618720

RESUMO

Increasing ability to diagnose fetal single gene disorders has changed the prenatal diagnostic paradigm. As fetal sequencing advances, the genomic information obtained can lead to improved prognostic counseling, and elucidation of recurrence risk and future prenatal diagnosis options. For some of these disorders, postnatal molecular therapy, including gene therapy, is available or being studied in clinical trials. Most of the initial research and clinical trials have involved children and adults, but there are potential benefits to treating conditions before birth. Many clinical studies are underway exploring the potential for in utero gene therapy.


Assuntos
Aconselhamento Genético , Diagnóstico Pré-Natal , Criança , Aconselhamento , Feminino , Feto , Humanos , Gravidez , Cuidado Pré-Natal
7.
Clin Obstet Gynecol ; 64(4): 886-897, 2021 12 01.
Artigo em Inglês | MEDLINE | ID: mdl-34482336

RESUMO

Primary immunodeficiencies (PIDs) have become a prime target for gene therapy given the morbidity, mortality, and the single gene etiology. Given that outcomes are better the earlier gene therapy is implemented, it is possible that fetal gene therapy may be an important future direction for the treatment of PIDs. In this chapter, the current treatments available for several PIDs will be reviewed, as well as the history and current status of gene therapy for PIDs. The possibility of in utero gene therapy as a possibility will then be discussed.


Assuntos
Terapias Fetais , Síndromes de Imunodeficiência , Feminino , Terapia Genética , Humanos , Síndromes de Imunodeficiência/genética , Síndromes de Imunodeficiência/terapia , Gravidez
10.
Am J Obstet Gynecol ; 225(6): B2-B8, 2021 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-34461076

RESUMO

Pain is a complex phenomenon that involves more than a simple physical response to external stimuli. In maternal-fetal surgical procedures, fetal analgesia is used primarily to blunt fetal autonomic responses and minimize fetal movement. The purpose of this Consult is to review the literature on what is known about the potential for fetal awareness of pain and to discuss the indications for and the risk-benefit calculus involved in the use of fetal anesthesia and analgesia. The recommendations by the Society for Maternal-Fetal Medicine are as follows: (1) we suggest that fetal paralytic agents be considered in the setting of intrauterine transfusion, if needed, for the purpose of decreasing fetal movement (GRADE 2C); (2) although the fetus is unable to experience pain at the gestational age when procedures are typically performed, we suggest that opioid analgesia should be administered to the fetus during invasive fetal surgical procedures to attenuate acute autonomic responses that may be deleterious, avoid long-term consequences of nociception and physiological stress on the fetus, and decrease fetal movement to enable the safe execution of procedures (GRADE 2C); and (3) due to maternal risk and a lack of evidence supporting benefit to the fetus, we recommend against the administration of fetal analgesia at the time of pregnancy termination (GRADE 1C).

11.
Prenat Diagn ; 41(10): 1249-1254, 2021 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-34386984

RESUMO

OBJECTIVE: The positive predictive values of cell free DNA (cfDNA) and rates of confined placental mosaicism (CPM), imprinting and other factors vary by chromosome. METHODS: We sought to review the literature for each of these features for each chromosome and provide recommendations on chorionic villus sampling (CVS) versus amniocentesis after an abnormal cfDNA result. RESULTS: For chromosomes with high rates of CPM (trisomy 13, monosomy X and rare autosomal trisomies [RATs]), an amniocentesis should be considered if the first trimester ultrasound is normal. For monosomy X on cfDNA with an unaffected fetus, maternal karyotyping should be considered after normal fetal diagnostic testing. In cfDNA cases with a trisomy involving a chromosome with imprinted genes (6, 7, 11, 14, 15 and 20), CVS should be considered, followed by amniocentesis if abnormal. If the fetus is unaffected, methylation studies should be considered given the risk of uniparental disomy. A third trimester growth ultrasound should be considered for patients with a positive cfDNA screen for a RAT and an unaffected fetus, especially in the case of trisomy 16. For patients with multiple aneuploidy results on cfDNA, a work-up for maternal malignancy should be considered. CONCLUSIONS: Clinicians should consider rates of CPM, imprinting, ultrasound findings and maternal factors when considering whether to recommend amniocentesis or CVS after an abnormal cfDNA result.

12.
Am J Obstet Gynecol ; 2021 Jul 28.
Artigo em Inglês | MEDLINE | ID: mdl-34331894

RESUMO

BACKGROUND: Next-generation sequencing is increasingly used in prenatal diagnosis. Targeted gene panels and exome sequencing are both available, but the comparative diagnostic yields of these approaches are not known. OBJECTIVE: We compared the diagnostic yield of exome sequencing with the simulated application of commercial targeted gene panels in a large cohort of fetuses with nonimmune hydrops fetalis. STUDY DESIGN: This was a secondary analysis of a cohort study of exome sequencing for nonimmune hydrops fetalis, in which recruitment, exome sequencing, and phenotype-driven variant analysis were completed in 127 pregnancies with features of nonimmune hydrops fetalis. An Internet search was performed to identify commercial laboratories that offer targeted gene panels for the prenatal evaluation of nonimmune hydrops fetalis or for specific disorders associated with nonimmune hydrops fetalis using the terms "non-immune hydrops fetalis," "fetal non-immune hydrops," "hydrops," "cystic hygroma," "lysosomal storage disease," "metabolic disorder," "inborn error of metabolism," "RASopathy," and "Noonan." Our primary outcome was the proportion of all genetic variants identified through exome sequencing that would have been identified if a targeted gene panel had instead been used. The secondary outcomes were the proportion of genetic variants that would have been identified by type of targeted gene panel (general nonimmune hydrops fetalis, RASopathy, or metabolic) and the percent of variants of uncertain significance that would have been identified on the panels, assuming 100% analytical sensitivity and specificity of panels for variants in the included genes. RESULTS: Exome sequencing identified a pathogenic or likely pathogenic variant in 37 of 127 cases (29%) in a total of 29 genes. A variant of uncertain significance, strongly suspected to be associated with the phenotype, was identified in another 12 cases (9%). We identified 7 laboratories that offer 10 relevant targeted gene panels; 6 are described as RASopathy panels, 3 as nonimmune hydrops fetalis panels, and 1 as a metabolic panel. The median number of genes included on each of these panels is 22, ranging from 11 to 148. Had a nonimmune hydrops fetalis targeted gene panel been used instead of exome sequencing, 13 to 15 of the 29 genes (45%-52%) identified in our nonimmune hydrops fetalis cohort would have been sequenced, and 19 to 24 of the pathogenic variants (51%-62%) would have been detected. The yield was predicted to be the lowest with the metabolic panel (11%) and the highest with the largest nonimmune hydrops fetalis panel (62%). The largest nonimmune hydrops fetalis targeted gene panel would have had a diagnostic yield of 18% compared with 29% with exome sequencing. The exome sequencing platform used provided 30× or more coverage for all of the exons on the commercial targeted gene panels, supporting our assumption of 100% analytical sensitivity for exome sequencing. CONCLUSION: The broader coverage of exome sequencing for genetically heterogeneous disorders, such as nonimmune hydrops fetalis, made it a superior alternative to targeted gene panel testing.

13.
Am J Surg ; 2021 Jul 20.
Artigo em Inglês | MEDLINE | ID: mdl-34315577

RESUMO

BACKGROUND: To identify genes associated with congenital diaphragmatic hernia (CDH) to help understand the etiology and inform prognosis. METHODS: We performed exome sequencing on fetuses with CDH and their parents to identify rare genetic variants likely to mediate risk. We reviewed prenatal characteristics and neonatal outcomes. RESULTS: Data were generated for 22 parent-offspring trios. Six Likely Damaging (LD) variants were identified in five families (23 %). Three LD variants were in genes that contain variants in other CDH cohorts (NR2F2, PTPN11, WT1), while three were in genes that do not (CTR9, HDAC6, TP53). Integrating these data bolsters the evidence of association of NR2F2, PTPN11, and WT1 with CDH in humans. Of the five fetuses with a genetic diagnosis, one was terminated, two underwent perinatal demise, while two survived until repair. CONCLUSIONS: Exome sequencing expands the diagnostic yield of genetic testing in CDH. Correlating CDH patients' exomes with clinical outcomes may enable personalized counseling and therapies.

15.
Prenat Diagn ; 2021 May 31.
Artigo em Inglês | MEDLINE | ID: mdl-34057224

RESUMO

OBJECTIVE: We aimed to determine the frequency of accepting secondary findings in families undergoing exome sequencing in prenatal and pediatric settings. METHODS: This was a secondary analysis of prospectively enrolled patients undergoing trio exome sequencing for congenital anomalies or developmental disorders in prenatal and pediatric settings, in which families were offered receiving secondary findings (initially assessed in the proband and, if identified, then in the parents). The primary outcome was frequency of accepting secondary findings. Secondary outcomes included frequency of acceptance in prenatal versus pediatric settings, and sociodemographic differences between those who accepted versus declined secondary findings. RESULTS: There were 682 families included in the cohort (289 prenatal and 393 pediatric). Overall, 84% (576/682) of families accepted secondary findings: 86.2% (249/289) of families undergoing prenatal versus 83.2% (327/393) pediatric (p = 0.30) testing. Secondary findings were identified in 2.6% (15/576) of cases, with no difference between prenatal and pediatric settings. There were no differences in sociodemographics between families that accepted versus declined secondary findings. CONCLUSION: The majority of families undergoing exome sequencing accepted secondary findings; this did not differ in prenatal versus pediatric settings. This highlights the need for guidance surrounding the offer of secondary findings in the prenatal setting.

16.
Am J Perinatol ; 2021 May 27.
Artigo em Inglês | MEDLINE | ID: mdl-34044454

RESUMO

OBJECTIVE: In the antenatal late preterm steroids (ALPS) trial betamethasone significantly decreased short-term neonatal respiratory morbidity but increased the risk of neonatal hypoglycemia, diagnosed only categorically (<40 mg/dL). We sought to better characterize the nature, duration, and treatment for hypoglycemia. STUDY DESIGN: Secondary analysis of infants from ALPS, a multicenter trial randomizing women at risk for late preterm delivery to betamethasone or placebo. This study was a reabstraction of all available charts from the parent trial, all of which were requested. Unreviewed charts included those lost to follow-up or from sites not participating in the reabstraction. Duration of hypoglycemia (<40 mg/dL), lowest value and treatment, if any, were assessed by group. Measures of association and regression models were used where appropriate. RESULTS: Of 2,831 randomized, 2,609 (92.2%) were included. There were 387 (29.3%) and 223 (17.3%) with hypoglycemia in the betamethasone and placebo groups, respectively (relative risk [RR]: 1.69, 95% confidence interval [CI]: 1.46-1.96). Hypoglycemia generally occurred in the first 24 hours in both groups: 374/385 (97.1%) in the betamethasone group and 214/222 (96.4%) in the placebo group (p = 0.63). Of 387 neonates with hypoglycemia in the betamethasone group, 132 (34.1%) received treatment, while 73/223 (32.7%) received treatment in placebo group (p = 0.73). The lowest recorded blood sugar was similar between groups. Most hypoglycemia resolved by 24 hours in both (93.0 vs. 89.3% in the betamethasone and placebo groups, respectively, p = 0.18). Among infants with hypoglycemia in the first 24 hours, the time to resolution was shorter in the betamethasone group (2.80 [interquartile range: 2.03-7.03) vs. 3.74 (interquartile range: 2.15-15.08) hours; p = 0.002]. Persistence for >72 hours was rare and similar in both groups, nine (2.4%, betamethasone) and four (1.9%, placebo, p = 0.18). CONCLUSION: In this cohort, hypoglycemia was transient and most received no treatment, with a quicker resolution in the betamethasone group. Prolonged hypoglycemia was uncommon irrespective of steroid exposure. KEY POINTS: · Hypoglycemia was transient and approximately two-thirds received no treatment.. · Neonates in the ALPS trial who received betamethasone had a shorter time to resolution than those with hypoglycemia in the placebo group.. · Prolonged hypoglycemia occurred in approximately 2 out of 100 late preterm newborns, irrespective of antenatal steroid exposure..

17.
J Pers Med ; 11(3)2021 Mar 13.
Artigo em Inglês | MEDLINE | ID: mdl-33805616

RESUMO

Genomic sequencing results need to be effectively communicated across all populations and practice settings. Projects in the Clinical Sequencing Evidence-Generating Research (CSER) consortium enroll diverse racial/ethnic and medically underserved participants across various clinical contexts. This article explores a set of CSER results disclosure cases to expand the evidence base on experiences returning genomic results. Case details were collected using a structured set of questions. We identified common themes in the case set, and assessed challenges and strategies in achieving six relevant results disclosure objectives. CSER-affiliated patient/community stakeholder impressions of the findings were solicited via video conference calls. Seventeen cases across six CSER projects were included. Case themes sorted into four categories: (1) factors influencing participant understanding, (2) participant emotional response, (3) disease burden, and (4) logistical challenges. Challenges meeting results disclosure objectives included a lack of dialogue, health literacy level, unexpected findings, and complex concepts. Strategies were consistent with traditional genetic counseling practice, but also highlighted approaches being evaluated in CSER projects. Patient/community stakeholders supported the identified themes and provided additional suggestions to improve patient understanding and engagement. These experiences add valuable insights into adapting genomic results disclosure practices to best serve all patient populations.

18.
Obstet Gynecol ; 137(5): 960, 2021 05 01.
Artigo em Inglês | MEDLINE | ID: mdl-33878054
19.
Am J Obstet Gynecol ; 225(1): B2-B11, 2021 07.
Artigo em Inglês | MEDLINE | ID: mdl-33845031

RESUMO

Following a collaborative workshop at the 39th Annual Pregnancy Meeting, the Society for Maternal-Fetal Medicine Reproductive Health Advisory Group identified a need to assess the attitudes of maternal-fetal medicine subspecialists about abortion services and the available resources at the local and regional levels. The purpose of this study was to identify trends in attitudes, beliefs, and behaviors of practicing maternal-fetal medicine subspecialists in the United States regarding abortion. An online survey was distributed to associate and regular members of the Society for Maternal-Fetal Medicine to assess their personal training experience, abortion practice patterns, factors that influence their decision to provide abortion care, and their responses to a series of scenarios about high-risk maternal or fetal medical conditions. Frequencies were analyzed and univariable and multivariable analyses were conducted on the survey responses. Of the 2751 members contacted, 546 Society for Maternal-Fetal Medicine members completed all (448 of 546, 82.1%) or some (98 of 546, 17.9%) of the survey. More than 80% of the respondents reported availability of abortion services in their state, 70% reported availability at their primary institution, and 44% reported provision as part of their personal medical practice. Ease of referral to family planning subspecialists or other abortion providers, institutional restrictions, and the lack of training or continuing education were identified as the most significant factors contributing to the respondents' limited scope of abortion services or lack of any abortion services offered. In the univariable analysis, exposure to formal family planning training programs, fewer years since the completion of residency, current practice setting not being religiously affiliated, and current state categorized as supportive by the Guttmacher Institute's abortion policy landscape were factors associated with abortion provision (all P values <.01). After controlling for these factors in a multivariable regression, exposure to formal family planning training programs was no longer associated with current abortion provision (P=.20; adjusted odds ratio, 1.34; 95% confidence interval, 0.85-2.10), whereas a favorable state policy environment and fewer years since the completion of residency remained associated with abortion provision. The results of this survey suggest that factors at the individual, institutional, and state levels affect the provision of abortion care by maternal-fetal medicine subspecialists. The subspecialty of maternal-fetal medicine should be active in ensuring adequate training and education to create a community of maternal-fetal medicine physicians able to provide comprehensive reproductive healthcare services.


Assuntos
Aborto Induzido/educação , Aborto Induzido/estatística & dados numéricos , Atitude do Pessoal de Saúde , Perinatologia/educação , Aborto Induzido/métodos , Serviços de Planejamento Familiar , Feminino , Humanos , Internato e Residência/estatística & dados numéricos , Masculino , Padrões de Prática Médica , Gravidez , Encaminhamento e Consulta , Serviços de Saúde Reprodutiva , Sociedades Médicas , Inquéritos e Questionários , Estados Unidos
20.
Obstet Gynecol ; 137(2): 345-350, 2021 02 01.
Artigo em Inglês | MEDLINE | ID: mdl-33416279

RESUMO

Advances in genetic technology have allowed for the development of multiplex panels that can test for hundreds of genetic disorders at the same time; these large panels are referred to as expanded carrier screening. This process can screen couples for far more conditions than the gene-by-gene approach used with traditional carrier screening; however, although expanded carrier screening has been promoted as an efficient means of detecting many more disorders, the complexities of genetic sequencing raise substantial challenges and concerns. In our practice, we have seen a number of complex cases in which only attention to detail on the part of thorough genetic counselors allowed identification of misclassified variants that could have resulted in significant patient harm. We raise issues that require urgent attention by professional societies, including: whether to endorse testing that uses sequencing compared with genotyping; required components of pretest and posttest counseling; reclassification of variants; whether obstetric health care professionals have a responsibility to assure that patients understand the iterative process of variant interpretation and how it relates to carrier screening results; and the question of rescreening in subsequent pregnancies. Implementation of expanded carrier screening needs to be considered thoughtfully in light of the complexity of genetic sequencing and limited knowledge of genetics of most front-line obstetric health care professionals.


Assuntos
Triagem de Portadores Genéticos , Heterozigoto , Adulto , Fibrose Cística/genética , Febre Familiar do Mediterrâneo/genética , Feminino , Humanos , Masculino , Distrofia Muscular de Duchenne/genética , Rim Policístico Autossômico Recessivo/genética , Gravidez , Síndrome de Zellweger/genética
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