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2.
Am J Obstet Gynecol ; 225(5): B18-B20, 2021 11.
Artigo em Inglês | MEDLINE | ID: mdl-34507799
4.
Clin Obstet Gynecol ; 64(4): 926-932, 2021 12 01.
Artigo em Inglês | MEDLINE | ID: mdl-34560766

RESUMO

Through next-generation sequencing, we can now detect a myriad of rare genetic diseases in utero that were previously not diagnosed until after birth. Fetal therapies hold strong promise for transforming prenatal management of genetic diseases, preventing adverse effects from organ damage in utero, and improving the grim perinatal outcomes of numerous genetic diseases. Many novel, in utero therapies are under investigation for genetic diseases using hematopoietic stem cells, cellular pathway inhibitors, viral vectors, and other biotechnologies. This article reviews emerging fetal therapies, as well as existing guidance for their development, considerations for their safety, and ethical and societal implications.


Assuntos
Terapias Fetais , Feminino , Humanos , Gravidez
6.
Genet Med ; 23(10): 1793-1806, 2021 10.
Artigo em Inglês | MEDLINE | ID: mdl-34285390

RESUMO

Carrier screening began 50 years ago with screening for conditions that have a high prevalence in defined racial/ethnic groups (e.g., Tay-Sachs disease in the Ashkenazi Jewish population; sickle cell disease in Black individuals). Cystic fibrosis was the first medical condition for which panethnic screening was recommended, followed by spinal muscular atrophy. Next-generation sequencing allows low cost and high throughput identification of sequence variants across many genes simultaneously. Since the phrase "expanded carrier screening" is nonspecific, there is a need to define carrier screening processes in a way that will allow equitable opportunity for patients to learn their reproductive risks using next-generation sequencing technology. An improved understanding of this risk allows patients to make informed reproductive decisions. Reproductive decision making is the established metric for clinical utility of population-based carrier screening. Furthermore, standardization of the screening approach will facilitate testing consistency. This practice resource reviews the current status of carrier screening, provides answers to some of the emerging questions, and recommends a consistent and equitable approach for offering carrier screening to all individuals during pregnancy or preconception.


Assuntos
Anemia Falciforme , Fibrose Cística , Genética Médica , Doença de Tay-Sachs , Anemia Falciforme/genética , Fibrose Cística/genética , Feminino , Triagem de Portadores Genéticos , Testes Genéticos , Genômica , Humanos , Gravidez , Doença de Tay-Sachs/genética , Estados Unidos
7.
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.

8.
Am J Obstet Gynecol MFM ; 3(5): 100415, 2021 09.
Artigo em Inglês | MEDLINE | ID: mdl-34082169

RESUMO

BACKGROUND: Gastroschisis is often complicated by fetal growth restriction, preterm delivery, and prolonged neonatal hospitalization. Prenatal management and delivery decisions are often based on estimated fetal weight and interval growth; however, appropriate interval growth from week to week across gestation for these fetuses is poorly understood. OBJECTIVE: This study aimed to determine the median increase in overall estimated fetal weight and individual biometric measurements across each week of gestation in pregnancies with fetal gastroschisis and to assess whether lower in utero fetal weight gain is predictive of postnatal growth or adverse neonatal outcomes. STUDY DESIGN: This was a retrospective cohort study of pregnancies with gastroschisis evaluated at 5 institutions of the University of California Fetal-Maternal Consortium from December 2014 to December 2019. The inclusion criteria were prenatally diagnosed gastroschisis with at least 1 ultrasound performed at a University of California Fetal-Maternal Consortium institution. Estimated fetal weight and individual biometric measurements were recorded for each ultrasound performed at a University of California Fetal-Maternal Consortium institution from the time of gastroschisis diagnosis to delivery. Median estimated fetal weight and biometric measurements were calculated for each gestational age in 1-week increments. Neonatal outcomes collected were birthweight, length of stay, complications of gastroschisis (bowel atresia, bowel stricture, ischemic bowel before closure, or severe pulmonary hypoplasia), and growth failure at discharge. RESULTS: We identified 95 pregnancies with fetal gastroschisis who, in aggregate, had 360 growth ultrasounds at a University of California Fetal-Maternal Consortium institution. The median interval growth was 130 g/wk. The median estimated fetal weight and abdominal circumference in fetal gastroschisis cases were approximately the tenth percentile on the Hadlock growth curve across gestation. Moreover, the median biparietal diameter, head circumference, and femur length measurements remained below the 50th percentile on the Hadlock growth curve across gestation. The median birthweight for neonates with less than the median weekly prenatal weight gain was less than for those with greater than the median weekly prenatal weight gain (2185 g vs 2780 g; P<.01). There was no difference in prenatal weight gain trajectory when comparing neonates who had or did not have bowel complications of gastroschisis. CONCLUSION: In this multicenter cohort of pregnancies with fetal gastroschisis, the median interval growth was 130 g/wk, and overall, in utero growth closely followed the tenth percentile on the Hadlock curve. Poor prenatal growth in cases of fetal gastroschisis correlates with lower neonatal weights but did not predict a more complicated course.


Assuntos
Gastrosquise , Feminino , Retardo do Crescimento Fetal , Feto , Gastrosquise/diagnóstico por imagem , Humanos , Recém-Nascido , Gravidez , Estudos Retrospectivos , Ultrassonografia Pré-Natal
9.
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.

10.
J Matern Fetal Neonatal Med ; 34(11): 1732-1740, 2021 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-31327283

RESUMO

OBJECTIVE: Fetuses with genetic copy number variants are poorly detected through traditional prenatal screening. Microdeletions and duplications are clearly identified with diagnostic testing through chromosomal microarray, and screening of a select number of microdeletions has become available with cell-free DNA (cfDNA). Our study compares the costs and outcomes of cfDNA for five pathogenic microdeletions and aneuploidy to cfDNA for aneuploidy alone in conjunction with ultrasound. METHODS: A decision-analytic model was constructed using TreeAge software to compare cfDNA with microdeletions versus traditional cfDNA in a theoretical cohort of 4,000,000 pregnancies that would also be screened with ultrasound. Probabilities, costs, and utilities were derived from literature. The primary outcomes were the incremental cost per quality-adjusted life-year (QALY), terminations, and procedure-related losses. Because the microdeletion results are available, but not reported, on all cfDNA testing we set the incremental cost of the cfDNA microdeletion screening test to zero at baseline and varied the cost in sensitivity analysis. RESULTS: Screening with cfDNA for microdeletions among all pregnant women would result in 83 fewer anomalous neonates compared to traditional cfDNA with ultrasound. This reduction is due to increased diagnosis and termination of fetuses with microdeletions in this group. Routine use of cfDNA with microdeletions resulted in more procedure-related losses. cfDNA with microdeletions would improve effectiveness by 977 QALYs and decrease costs by $90,991,784. When we varied the specificity of the screening test, we found that it remained cost-effective down to a specificity of 91%. With a threshold of $100,000/QALY, microdeletion screening is cost-effective to an incremental increase in cost over cfDNA for aneuploidy alone of $47.10. CONCLUSION: For detection of fetal subchromosomal abnormalities, use of cfDNA with microdeletions is a cost-effective strategy compared to cfDNA for aneuploidy alone in conjunction with ultrasound. Cell-free DNA for microdeletions is not currently recommended as routine screening for low-risk obstetric populations by the American College of Obstetrics and Gynecologists or the Society for Maternal-Fetal Medicine. The test characteristics of cfDNA with microdeletions require greater examination before being routinely recommended.


Assuntos
Ácidos Nucleicos Livres , Aneuploidia , Análise Custo-Benefício , DNA , Feminino , Feto , Humanos , Recém-Nascido , Gravidez , Diagnóstico Pré-Natal , Síndrome
11.
Am J Perinatol ; 38(7): 649-656, 2021 06.
Artigo em Inglês | MEDLINE | ID: mdl-33321536

RESUMO

OBJECTIVE: Monochorionic, diamniotic (MCDA) twin pairs are predisposed to various pregnancy complications due to the unique placental angioarchitecture of monochorionicity. Few studies have evaluated the outcomes of weight-discordant MCDA pairs without selective fetal growth restriction (SFGR) or the risk factors for development of SFGR. This study aims to describe the natural history of expectant, noninvasive management of weight-discordant MCDA twins and to evaluate risk factors associated with progression to SFGR. STUDY DESIGN: This was a retrospective cohort study at a single, tertiary care center in the United States. All MCDA twins with isolated intertwin weight discordance (ITWD) ≥ 20% diagnosed before 26 weeks' gestational age (GA) were included. The primary outcome of descriptive analyses was overall pregnancy outcome, incorporating both survival to delivery and GA at delivery, as defined by the North American Fetal Therapy Network. The secondary outcome was SFGR in one twin (defined as estimated fetal weight < 10% for GA) and factors associated with this progression. Only those with fetal ultrasound (US) within 4 weeks of delivery were included in this secondary analysis. RESULTS: Among 73 MCDA pairs with ITWD, 73% had a good pregnancy outcome, with dual live delivery at a median GA of 33 weeks. Among the 34 pairs with adequate US follow-up, 56% developed SFGR. There were no differences in GA at delivery or discordance at birth between those who did and those who did not develop SFGR. There was a nonsignificant association between increasing ITWD at diagnosis and subsequent development of SFGR. CONCLUSION: Expectant, noninvasive management can be considered in MCDA twin pregnancies with ITWD ≥ 20% diagnosed before 26 weeks. This approach is associated with a good pregnancy outcome in the majority of cases, even after the development of SFGR in the smaller twin. KEY POINTS: · Nearly 75% of weight-discordant mo/di twins have a good pregnancy outcome.. · Weight-discordant mo/di twins deliver at a mean gestational age of 33 weeks without invasive therapy.. · Noninvasive management should be considered for weight-discordant mo/di twins..

12.
N Engl J Med ; 383(18): 1746-1756, 2020 10 29.
Artigo em Inglês | MEDLINE | ID: mdl-33027564

RESUMO

BACKGROUND: The cause of most fetal anomalies is not determined prenatally. Exome sequencing has transformed genetic diagnosis after birth, but its usefulness for prenatal diagnosis is still emerging. Nonimmune hydrops fetalis (NIHF), a fetal abnormality that is often lethal, has numerous genetic causes; the extent to which exome sequencing can aid in its diagnosis is unclear. METHODS: We evaluated a series of 127 consecutive unexplained cases of NIHF that were defined by the presence of fetal ascites, pleural or pericardial effusions, skin edema, cystic hygroma, increased nuchal translucency, or a combination of these conditions. The primary outcome was the diagnostic yield of exome sequencing for detecting genetic variants that were classified as either pathogenic or likely pathogenic according to the criteria of the American College of Medical Genetics and Genomics. Secondary outcomes were the percentage of cases associated with specific genetic disorders and the proportion of variants that were inherited. RESULTS: In 37 of the 127 cases (29%), we identified diagnostic genetic variants, including those for disorders affecting the RAS-MAPK cell-signaling pathway (known as RASopathies) (30% of the genetic diagnoses); inborn errors of metabolism and musculoskeletal disorders (11% each); lymphatic, neurodevelopmental, cardiovascular, and hematologic disorders (8% each); and others. Prognoses ranged from a relatively mild outcome to death during the perinatal period. Overall, 68% of the cases (25 of 37) with diagnostic variants were autosomal dominant (of which 12% were inherited and 88% were de novo), 27% (10 of 37) were autosomal recessive (of which 95% were inherited and 5% were de novo), 1 was inherited X-linked recessive, and 1 was of uncertain inheritance. We identified potentially diagnostic variants in an additional 12 cases. CONCLUSIONS: In this large case series of 127 fetuses with unexplained NIHF, we identified a diagnostic genetic variant in approximately one third of the cases. (Funded by the UCSF Center for Maternal-Fetal Precision Medicine and others; ClinicalTrials.gov number, NCT03412760.).


Assuntos
Variação Genética , Hidropisia Fetal/diagnóstico , Hidropisia Fetal/genética , Diagnóstico Pré-Natal , Sequenciamento Completo do Exoma , Feminino , Humanos , Gravidez , Prognóstico
13.
Prenat Diagn ; 40(4): 492-496, 2020 03.
Artigo em Inglês | MEDLINE | ID: mdl-31981373

RESUMO

PURPOSE: Chromosomal microarray (CMA) is recommended in the diagnostic evaluation of cases with fetal structural anomalies when invasive testing is pursued. However, the utility of CMA for nonimmune hydrops fetalis (NIHF) specifically is not well known. Our objective was to describe the overall yield of CMA in the diagnostic evaluation of NIHF, comparing isolated cases to those with concurrent structural anomalies. METHODS: This was a retrospective cohort study of all prenatally diagnosed NIHF cases evaluated at the University of California, San Francisco from 2008 to 2018. NIHF due to twin-twin transfusion syndrome was excluded. RESULTS: There were 131 cases of prenatally diagnosed NIHF. In 43/44 cases with a CMA performed, results were categorized as normal or likely benign. One case was found on CMA to have a large pathogenic duplication of 21p11.2q22.3, which could have been detected by karyotype and was consistent with a diagnosis of Down syndrome. There was no incremental yield demonstrated for CMA over karyotype. CONCLUSIONS: Among a cohort of prenatally diagnosed NIHF cases, CMA did not identify any copy number variants beyond those detectable by karyotype, and the vast majority of CMAs were normal. These results suggest that CMA has low diagnostic utility for NIHF.


Assuntos
Transtornos Cromossômicos/diagnóstico , Anormalidades Congênitas/genética , Hidropisia Fetal/etiologia , Cariotipagem/métodos , Análise em Microsséries/métodos , Adolescente , Adulto , Transtornos Cromossômicos/complicações , Estudos de Coortes , Síndrome de Down/complicações , Síndrome de Down/diagnóstico , Feminino , Humanos , Pessoa de Meia-Idade , Gravidez , Estudos Retrospectivos , Síndrome de Turner/complicações , Síndrome de Turner/diagnóstico , Ultrassonografia Pré-Natal , Adulto Jovem
15.
Hum Genet ; 139(9): 1131-1139, 2020 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31679051

RESUMO

The primary goal of carrier screening is to identify asymptomatic individuals who carry variants associated with genetic diseases, to inform about the risk of having a child with a genetic disease. Carrier screening can be accomplished through different approaches including ethnicity-based screening, pan-ethnic screening, and expanded carrier screening (ECS), and the decision to pursue carrier screening is voluntary. ECS takes a broad approach by screening for a large number of genetic diseases irrespective of ethnic background, and ideally is performed prior to conception. ECS has many benefits, including that it does not depend on accuracy of reported ancestry, as well as its greater yield of information that can be used for reproductive decision-making. However, there are also many important limitations of ECS to consider, ranging from the yield of unexpected information, uncertainty about the phenotype of a particular disease for which an individual is a carrier, and greater downstream costs associated with further testing and genetic counseling. Detailed genetic counseling both prior to and after ECS is essential in order for patients to understand the breadth of this approach, potential and actual results, and limitations.


Assuntos
Triagem de Portadores Genéticos/métodos , Aconselhamento Genético/métodos , Doenças Genéticas Inatas/diagnóstico , Grupos Étnicos/genética , Feminino , Doenças Genéticas Inatas/genética , Humanos , Gravidez
16.
Prenat Diagn ; 39(9): 732-750, 2019 08.
Artigo em Inglês | MEDLINE | ID: mdl-31087399

RESUMO

A wide spectrum of genetic causes may lead to nonimmune hydrops fetalis (NIHF), and a thorough phenotypic and genetic evaluation are essential to determine the underlying etiology, optimally manage these pregnancies, and inform discussions about anticipated prognosis. In this review, we outline the known genetic etiologies of NIHF by fetal organ system affected, and provide a systematic approach to the evaluation of NIHF. Some of the underlying genetic disorders are associated with characteristic phenotypic features that may be seen on prenatal ultrasound, such as hepatomegaly with lysosomal storage disorders, hyperechoic kidneys with congenital nephrosis, or pulmonary valve stenosis with RASopathies. However, this is not always the case, and the approach to evaluation must include prenatal ultrasound findings as well as genetic testing and many other factors. Genetic testing that has been utilized for NIHF ranges from standard chromosomal microarray or karyotype to gene panels and broad approaches such as whole exome sequencing. Family and obstetric history, as well as pathology examination, can yield additional clues that are helpful in establishing a diagnosis. A systematic approach to evaluation can guide a more targeted approach to genetic evaluation, diagnosis, and management of NIHF.


Assuntos
Hidropisia Fetal/genética , Feminino , Testes Genéticos , Humanos , Hidropisia Fetal/diagnóstico por imagem , Gravidez , Ultrassonografia Pré-Natal
17.
Am J Perinatol ; 36(3): 225-232, 2019 02.
Artigo em Inglês | MEDLINE | ID: mdl-30199894

RESUMO

OBJECTIVE: To examine the relationship between cardiomediastinal shift angle (CMSA) and adverse perinatal outcomes and hydrops in cases of congenital pulmonary airway malformation (CPAM). STUDY DESIGN: This retrospective study evaluated CPAM cases referred to our institution from 2008 to 2015. The primary outcome was a composite score for adverse perinatal outcome. CMSA was measured for each case and evaluated for its association with the primary outcome. The prediction accuracy of CMSA for adverse perinatal outcome was assessed using receiver operator characteristic (ROC) curves. RESULTS: Eighteen (21.2%) of the 85 cases experienced an adverse perinatal outcome. Increases in CMSA were associated with adverse perinatal outcomes and hydrops in bivariate analyses. Adjusted analyses found each 10-degree increase in CMSA to be associated with increased odds of an adverse perinatal outcome (adjusted odds ratio [aOR] 2.2, 95% confidence interval [CI]: 1.4-3.3) and hydrops (aOR 3.0, 95% CI: 1.5-6.1). CMSA performed well and was comparable to CPAM volume ratio in predicting adverse perinatal outcomes (area under the curve 0.81 and 0.84, respectively). CONCLUSION: We describe a novel measurement of mediastinal shift in cases of CPAM and its relationship with adverse perinatal outcomes and hydrops. These findings may shape the evaluation and management of CPAMs, improve our understanding of their prognosis, and influence patient counseling.


Assuntos
Malformação Adenomatoide Cística Congênita do Pulmão/complicações , Doenças Fetais/diagnóstico , Coração/embriologia , Mediastino/embriologia , Anormalidades do Sistema Respiratório/diagnóstico , Adulto , Malformação Adenomatoide Cística Congênita do Pulmão/diagnóstico , Malformação Adenomatoide Cística Congênita do Pulmão/embriologia , Feminino , Coração/anatomia & histologia , Humanos , Hidropisia Fetal/etiologia , Pneumopatias/congênito , Mediastino/anatomia & histologia , Gravidez , Curva ROC , Estudos Retrospectivos , Ultrassonografia Pré-Natal
18.
J Matern Fetal Neonatal Med ; 32(3): 442-447, 2019 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-28974133

RESUMO

OBJECTIVE: To compare fetal/infant mortality risk associated with each additional week of expectant management with the infant mortality risk of immediate delivery in growth-restricted pregnancies. METHODS: A retrospective cohort study was conducted of singleton, nonanomalous pregnancies from the 2005-2008 California Birth Registry comparing pregnancies affected and unaffected by growth restriction, defined using birth weights as a proxy for fetal growth restriction (FGR). Birth weights were subdivided as greater than the 90th percentile, between the 10th percentile and 90th percentile, and less than the 10th percentile. Cases greater than the 90th percentile were excluded from analysis. Cases less than the 10th percentile were considered to have FGR and were further subcategorized into <10th percentile, <5th percentile, and <3rd percentile. We compared the risk of infant death at each gestational age week against a composite risk representing the mortality risk of one additional week of expectant management. RESULTS: We identified 1,641,000 births, of which 110,748 (6.7%) were less than 10th percentile. The risk of stillbirth increased with gestational age with the risk of stillbirth at each week of gestation inversely proportional to growth percentile. The risks of fetal and infant mortality with expectant management outweighed the risk of infant death for all FGR categories analyzed beginning at 38 weeks. However, the absolute risks differed by growth percentiles, with the highest risks of infant death and stillbirth in the <3rd percentile cohort. At 39 weeks, absolute risks were low, although the number needed to deliver to prevent 1 death ranged from 413 for <3rd percentile to 2667 in unaffected pregnancies. CONCLUSION: At 38 weeks, the mortality risk of expectant management for one additional week exceeds the risk of delivery across all growth-restricted cohorts, despite variation in absolute risk by degree of growth restriction.


Assuntos
Retardo do Crescimento Fetal/mortalidade , Retardo do Crescimento Fetal/terapia , Natimorto/epidemiologia , Conduta Expectante , Adulto , California/epidemiologia , Feminino , Mortalidade Fetal , Idade Gestacional , Humanos , Lactente , Morte do Lactente/etiologia , Morte do Lactente/prevenção & controle , Mortalidade Infantil , Recém-Nascido , Masculino , Gravidez , Estudos Retrospectivos , Fatores de Risco , Conduta Expectante/estatística & dados numéricos
19.
Genet Med ; 21(6): 1339-1344, 2019 06.
Artigo em Inglês | MEDLINE | ID: mdl-30410095

RESUMO

PURPOSE: Numerous etiologies may lead to nonimmune hydrops fetalis (NIHF), and the underlying cause often remains unclear. We aimed to determine the proportion of NIHF cases in which the etiology was clearly determined in a large, contemporary, and diverse cohort, as well as to describe the etiologies with a focus on genetic causes. METHODS: Retrospective review of NIHF cases between 2015 and 2017 from the five University of California Fetal-Maternal Consortium sites. Singleton pregnancies with prenatally diagnosed NIHF were included, and cases with maternal alloimmunization were excluded. Cases were categorized as being of confirmed, suspected, or unknown etiology. RESULTS: Sixty-five NIHF cases were identified. Forty-six percent (30/65) remained of unknown etiology, while 9.2% (6/65) had a suspected etiology and 44.6% (29/65) were of confirmed etiology. Among confirmed cases, 11 resulted from aneuploidy; 7 from fetal structural anomalies; 2 each from fetal arrhythmia, Noonan syndrome, and generalized lymphatic dysplasia; and 1 each from arthrogryposis, parvovirus, neonatal alloimmune thrombocytopenia, fetal goiter, and Kasabach-Merritt syndrome. CONCLUSION: In this contemporary, multicenter study, the cause of prenatally diagnosed NIHF was confirmed in only 44% of cases, and a genetic etiology was found in only 25% of those that received standard of care genetic testing.


Assuntos
Hidropisia Fetal/etiologia , Hidropisia Fetal/genética , Adolescente , Adulto , Aneuploidia , California , Estudos de Coortes , Feminino , Feto , Humanos , Recém-Nascido , Masculino , Gravidez , Primeiro Trimestre da Gravidez , Cuidado Pré-Natal , Estudos Retrospectivos , Ultrassonografia Pré-Natal
20.
Semin Perinatol ; 42(5): 275-282, 2018 08.
Artigo em Inglês | MEDLINE | ID: mdl-30173949

RESUMO

In January 2017, a group of experts in prenatal genetics attended a workshop at the Society of Maternal-Fetal Medicine meeting to review the evidence behind the costs and cost-effectiveness of prenatal genetic testing. Over the past decade, prenatal genetic testing options have dramatically expanded to include additional options with cell-free DNA (cfDNA) screening, as well as increased diagnostic abilities through chromosomal microarray analysis (CMA), gene panels, whole exome sequencing, and other tests. With these expanding technologies, it is important to consider the options available as well as the cost effectiveness of their use. Other important considerations are the effects of movements toward value-based health care; the role of professional societies, commercial laboratories, and insurers; disparities that exist in prenatal genetic testing; and outcomes for both patients and health care systems. Workshop participants identified key areas of research to advance our understanding of the costs and cost-effectiveness of prenatal genetic testing, which include (1) understanding the short- and long-term costs to patients and to health care systems with prenatal genetic tests; (2) elucidating the short- and long-term health outcomes for parents and children that are important to consider when comparing one testing strategy to another; (3) understanding the value underlying prenatal genetic testing to individuals and health care systems; and (4) identifying disparities in prenatal genetic testing, reasons for these disparities, and how to minimize them.


Assuntos
Aneuploidia , Testes Genéticos/economia , Diagnóstico Pré-Natal/economia , Medicina Estatal/economia , Análise Custo-Benefício , Feminino , Humanos , Seguro Saúde , Gravidez , Fatores de Risco
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