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2.
Int. j. morphol ; 38(3): 793-798, June 2020. graf
Artigo em Inglês | LILACS | ID: biblio-1098321

RESUMO

Sirenomelia or mermaid syndrome is an extremely rare congenital lethal malformation with a frequency between 1.5 and 4.2 per 1 000 000 pregnancies.The association of sirenomelia with the VACTERL association is very rare, with twenty cases reported in the literature and only two cases with VACTERL-H. We present two cases of sirenomelia, type I and type II associated with VACTERL-H and VACTERL syndromes and we review the literature. First time pregnancy women aged 15 and 40 years, without harmful habits and diseases, where between 25-27 gestational week (GW) the prenatal study identifies malformative fetus and the pregnancy is interrupted by medical evidence. The fetopathological examination in the first case identified sirenomelia type I associated with myelomeningocele, hydrocephalus, anal imperforation, single umbilical artery, bilateral renal agenesis, ureteral and bladder agenesis, tracheo-esophageal fistule, agenesis of external genitals, monkey fold of the left palm of the hand - VACTERL-H. In the second case, where genetic testing is normal, sirenomelia type II associated with agenesis of external genitalia, anal imperforation, myelomeningocele, dolichocrania, macroglossia, low set ears, left preauricular skin tag, long philtrum, lung hypoplasia, split cadiac apex, single umbilicalis artery, blind end colon, hepatomegaly, accessory spleen, polycystic horseshoe kidney, uterine and vaginal agenesis, presence of two ovaries and duodenal stenosis - VACTERL association. This two cases, lead us to believe that sirenomelia and the VACTERL association are probably different manifestations of a pathogenetic process leading to disorders of blastogenesis at different levels during embryonic development.


La sirenomelia es una malformación congénita y excepcionalmente rara, con una frecuencia entre 1,5 y 4,2 en un millón de embarazos. La combinación de la sirenomelia con el síndrome de VACTERL es igualmente rara. La literatura especializada informa sobre la existencia de una veintena de casos solamente; en lo que respecta a su asociación con el síndrome de VACTERL-H se conocen solo dos casos. Luego de realizar una revisión de la literatura presentamos dos casos de sirenomelia asociada con los síndromes de VACTERL-H y de VACTERL En el estudio se analizaron los primeros embarazos de dos mujeres, edad de 15 y de 40 años, respectivamente, ambas mujeres completamente sanas y sin hábitos viciosos. Entre la vigésima quinta y la vigésima séptima semana gestacional (SG) del embarazo ambas mujeres, el análisis prenatal comprueba la existencia de malformación del feto debido a lo cual los embarazos fueron interrumpidos por prescripción médica. El análisis fetopatológico del primer caso comprueba la existencia de sirenomelia de tipo I asociada con mielomeningocele, hidrocefalia, atresia anal, arteria umbilical única, agenesia bilateral de los riñones y de los ureteres que transportan la orina desde los riñones hasta la vejiga, fístula traqueoesofágica, agenesia de los órganos genitales externos, línea simiesca en la palma de la mano izquierda - VACTERLH. En el segundo caso, en que el análisis genético ha resultado normal, se observó la presencia de sirenomelia de tipo II asociada con agenesia de los órganos genitales externos, atresia anal, mielomeningocele, dolicocrania, macroglosia, orejas bajas, filtrum alargado, hipoplasia pulmonar, ápice cardíaco escindido, arteria umbilical única, colon terminado en ciego, bazo accesorio, poliquistosis renal, riñón en herradura, agenesia vaginal y de útero, presencia de dos ovarios y estenosis duodenal - VACTERL asociación. Los dos casos investigados permiten llegar a la conclusión de que la sirenomelia y su combinación con el síndrome de VACTERL probablemente sean manifestaciones diferentes de un proceso patogenético que conlleva la alteración de la blastogénesis en distintos niveles durante el proceso del desarrollo embrionario.


Assuntos
Humanos , Feminino , Gravidez , Adolescente , Adulto , Anormalidades Múltiplas , Ectromelia/complicações , Ectromelia/diagnóstico , Doenças Fetais/diagnóstico , Canal Anal/anormalidades , Síndrome , Traqueia/anormalidades , Evolução Fatal , Esôfago/anormalidades , Rim/anormalidades
3.
BMC Infect Dis ; 20(1): 418, 2020 Jun 16.
Artigo em Inglês | MEDLINE | ID: mdl-32546244

RESUMO

BACKGROUND: Cytomegalovirus infection is the most frequent viral congenital infection, with possible consequences such as deafness, or psychomotor retardation. In 2016, the French High Council of Public Health was mandated to update recommendations regarding prevention of cytomegalovirus infection in pregnant women. We summarize a critical appraisal of knowledge and deterministic decision analysis comparing the current no-screening situation to serological screening during pregnancy, and to hygiene promotion. METHODS: Screening was defined as systematic serological testing, during the first trimester, with repeated tests as needed, to all pregnant women. Outcomes were: 1) severe sequela: intellectual deficiency with IQ ≤ 50 or hearing impairment < 70 dB or sight impairment (≤ 3/10 at best eye); 2) moderate sequela: any level of intellectual, hearing or sight deficiency; and 3) death or termination of pregnancy. We simulated the one-year course of cytomegalovirus infection in a cohort of 800,000 pregnant women. We developed a deterministic decision model, using best and min-max estimates, extracted from systematic reviews or original studies. RESULTS: Relevant data were scarce or imprecise. We estimated that 4352 maternal primary infections would result in 1741 foetal infections, and an unknown number of maternal reinfections would result in 1699 foetal infections. There would be 788 cytomegalovirus-related consequences, including 316 foetal deaths or terminations of pregnancy, and 424 moderate and 48 severe sequelae. Screening would result in a 1.66-fold increase of poor outcomes, mostly related to a 2.93-fold increase in deaths and terminations of pregnancy, not compensated by the decrease in severe symptomatic newborns. The promotion of hygiene would result in a 0.75-fold decrease of poor outcomes, related to both a decrease in severe sequelae among symptomatic newborns (RR = 0.75; min-max: 1.00-0.68), and in deaths and terminations of pregnancy (RR = 0.75; min-max: 0.97-0.68). CONCLUSIONS: Prevention of cytomegalovirus infection during pregnancy should promote hygiene; serological screening should not be recommended.


Assuntos
Infecções por Citomegalovirus/diagnóstico , Infecções por Citomegalovirus/prevenção & controle , Citomegalovirus/imunologia , Doenças Fetais/diagnóstico , Higiene , Programas de Rastreamento/métodos , Complicações Infecciosas na Gravidez/virologia , Estudos de Coortes , Técnicas de Apoio para a Decisão , Feminino , Doenças Fetais/virologia , Humanos , Recém-Nascido , Modelos Biológicos , Gravidez , Testes Sorológicos
4.
Arch Gynecol Obstet ; 302(2): 355-363, 2020 08.
Artigo em Inglês | MEDLINE | ID: mdl-32495019

RESUMO

INTRODUCTION: In pregnant women with a history of fetal and neonatal alloimmune thrombocytopenia (FNAIT), prenatal intervention in subsequent pregnancies may be required to prevent fetal bleeding. Several invasive and non-invasive protocols have been published: amniocentesis for fetal genotyping, fetal blood sampling for the determination of fetal platelet count, intrauterine platelet transfusions, and weekly maternal i.v. immunoglobulin (IVIG) infusion with or without additional corticosteroid therapy. This is the first retrospective study that report the experience with a non-invasive protocol focused on side effects of maternal IVIG treatment and neonatal outcome. METHODS: Pregnant women with proven FNAIT in history and an antigen positive fetus were treated with IVIG (1 g/kg/bw) every week. To identify potential IVIG-related hemolytic reactions isoagglutinin titer of each IVIG lot and maternal blood count were controlled. IVIG-related side effects were prospectively documented and evaluated. Furthermore, ultrasound examination of the fetus was performed before starting IVIG administration and continued regularly during treatment. Outcome of the index and subsequent pregnancy was compared. Corresponding data of the newborns were analyzed simultaneously. RESULTS: IVIG was started at 20 weeks of gestation (median). Compared to the index pregnancy, platelet counts of the newborns were higher in all cases. No intracranial hemorrhage occurred (Index pregnancies: 1 case). Platelet counts were 187 × 109/l (median, range 22-239, 95% CI) and one newborn had mild bleeding. No severe hemolytic reaction was observed and side effects were moderate. CONCLUSION: Among pregnant women with FNAIT history, the use of non-invasive fetal risk determination and maternal IVIG resulted in favorite outcome of all newborns. Invasive diagnostic or therapeutic procedures in women with a history of FNAIT should be abandoned.


Assuntos
Hemorragia/prevenção & controle , Imunoglobulinas Intravenosas/administração & dosagem , Medição de Risco/métodos , Trombocitopenia Neonatal Aloimune/prevenção & controle , Transfusão de Sangue Intrauterina , Feminino , Doenças Fetais/diagnóstico , Humanos , Imunoglobulinas Intravenosas/uso terapêutico , Recém-Nascido , Contagem de Plaquetas , Gravidez , Cuidado Pré-Natal/métodos , Estudos Retrospectivos , Trombocitopenia Neonatal Aloimune/diagnóstico , Trombocitopenia Neonatal Aloimune/terapia , Resultado do Tratamento
5.
Curr Opin Anaesthesiol ; 33(3): 368-373, 2020 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-32324666

RESUMO

PURPOSE OF REVIEW: This review describes maternal and fetal anesthetic management for noncardiac fetal surgical procedures, including the management of lower urinary tract obstruction, congenital diaphragmatic hernia (CDH), myelomeningocele, sacrococcygeal teratoma, prenatally anticipated difficult airway and congenital lung lesions. RECENT FINDINGS: Fetal interventions range from minimally invasive fetoscopic procedures to mid-gestation open surgery, to ex-utero intrapartum treatment procedure. Anesthetic management depends on the fetal intervention and patient characteristics. Anesthesia for most minimally invasive procedures can consist of intravenous sedation and local anesthetic infiltration in clinically appropriate maternal patients. Open fetal and ex-utero intrapartum treatment procedures require maternal general anesthesia with volatile anesthetic and other medications to maintain uterine relaxation. Tracheal balloons are a promising therapy for CDH and can be inserted via minimally invasive techniques. Management of the prenatally anticipated difficult airway during delivery and removal of tracheal balloons from patients with CDH during delivery can be clinically dynamic and require flexibility, seamless communication and a high-functioning, multidisciplinary care team. SUMMARY: Maternal and fetal anesthetic management is tailored to the fetal intervention and the underlying health of the fetus and mother.


Assuntos
Anestesia/métodos , Doenças Fetais/cirurgia , Transfusão Feto-Fetal/cirurgia , Fetoscopia/métodos , Hérnias Diafragmáticas Congênitas/terapia , Placenta/irrigação sanguínea , Feminino , Doenças Fetais/diagnóstico , Doenças Fetais/terapia , Fetoscopia/efeitos adversos , Feto/cirurgia , Hérnias Diafragmáticas Congênitas/cirurgia , Humanos , Doenças Placentárias/cirurgia , Gravidez , Cuidado Pré-Natal , Diagnóstico Pré-Natal
6.
Obstet Gynecol ; 135(5): 1185-1197, 2020 May.
Artigo em Inglês | MEDLINE | ID: mdl-32282593

RESUMO

OBJECTIVE: To examine the relationship between prenatal diagnostics (ultrasound examination and amniotic fluid Zika virus testing) and postnatal congenital Zika syndrome abnormalities. DATA SOURCES: Systematic searches were performed in 27 databases, including ClinicalTrials.gov, from inception to July 1, 2019, for articles with the keywords "Zika," "prenatal," "ultrasound," and "amniocentesis." METHODS OF STUDY SELECTION: A total of 3,049 unique records were identified. Two reviewers independently assessed titles, abstracts, and full texts for relevance; 84 articles met the inclusion criteria. These articles describe 402 mother-fetus or mother-neonate dyads; 385 were included in the review of prenatal ultrasound examination, and 56 in the review of amniocentesis (39 in both). TABULATION, INTEGRATION, AND RESULTS: Among 195 fetuses with congenital Zika syndrome findings on prenatal ultrasound examination, postnatal congenital Zika syndrome abnormalities were reported for 153 (78%; 95% CI 7-84%). High proportions of microcephaly (76%; 95% CI 69-82%) and brain abnormalities (78%; 95% CI 69-86%) were confirmed postnatally. Among 190 fetuses without congenital Zika syndrome findings on prenatal ultrasound examination, 17% (95% CI 12-24%) had congenital Zika syndrome abnormalities identified postnatally. Structural congenital Zika syndrome abnormalities were identified postnatally in approximately equal proportions among dyads with and without Zika virus RNA detected in an amniotic fluid specimen (68% and 67%; 95% CI 52-82% and 95% CI 38-88%). In six pregnancies, Zika virus RNA was detected in amniotic fluid but not in a subsequent amniocentesis specimen. CONCLUSION: Prenatal ultrasound examination frequently detects structural findings associated with Zika virus infection; however, not all abnormalities are detected, and some may represent transient findings. As with other congenital infections, prenatal detection may vary with timing of infection, timing of ultrasound examination, technical expertise, and severity of abnormalities. The detection of Zika virus RNA in amniotic fluid in the included studies did not predict the risk for congenital Zika syndrome abnormalities in these cases, and clearance of Zika virus RNA from amniotic fluid appears possible after maternal infection. Diagnostic testing for Zika virus infection remains a shared decision between patients and clinicians, and more data are needed to define clinical predictors that will inform these decisions. SYSTEMATIC REVIEW REGISTRATION: PROSPERO, CRD42018080959.


Assuntos
Amniocentese/métodos , Doenças Fetais/diagnóstico , Ultrassonografia Pré-Natal/métodos , Infecção por Zika virus/diagnóstico , Zika virus , Adulto , Feminino , Doenças Fetais/virologia , Humanos , Gravidez , Adulto Jovem , Infecção por Zika virus/embriologia , Infecção por Zika virus/virologia
7.
Mikrobiyol Bul ; 54(1): 171-190, 2020 Jan.
Artigo em Turco | MEDLINE | ID: mdl-32050888

RESUMO

Human cytomegalovirus (CMV) infections are common in all populations and CMV seroprevalence in women of childbearing age is in the range of 45-100% worldwide. CMV is the most common cause of congenital infections and is associated with fetal development defects and hearing loss. The risk of congenital infection is directly related to maternal immunity and is between 30-40% and 1-2% range in primary and non-primary infections, respectively. Only 5-10% of newborns with congenital infection are symptomatic at birth. Nearly 4% of these babies can die early in life, while 40-60% have to live with permanent sequelae such as sensorineural hearing loss, cognitive deficit and visual impairment. Asymptomatic newborns including those born from mothers with non-primary infections are also at risk for long-term sequelae. These sequelae often develop in the first 1-2 years of life and may extend up to 5-7 years, but the severity of damage reduces in time. CMV seroprevalence in women of childbearing age and pregnant women in Turkey is between 96% and 99.8%. Until recently, our knowledge about the frequency of congenital CMV infections in Turkey was derived from the studies based on the maternal screening tests. These studies, which were far from reflecting the true prevalence of congenital CMV infections, have begun to be replaced by newborn-based systematic screening studies. CMV DNA positivity was found to be 1.6-1.9% in saliva samples, while both saliva and urine and/or blood samples positivity was found to be 0.2-1.4% in the newborn screening studies carried out in Turkey. Glycoprotein B-1 (gB1) was the most frequently detected genotype (38.4-83.3%) in newborns in Turkey. Standard measures and preventive public health practices such as education of the mother, reducing the contact of pregnant women with virus-spreading children and the hand hygiene come into prominence in the prevention of maternal and congenital infections as a result of the absence of an approved vaccine or low protection of existing vaccines. Advanced measures, such as screening blood products especially for the people with immunodeficiency and serological screening of the in-vitro fertilization applications are also being considered. Monitoring of infected newborns and their mothers during pregnancy, postnatal diagnosis and providing counseling for the parents are also critical. Hearing loss can be detected at an early stage using screening tests that become a routine practice for all newborns. Thus, cognitive and psychosocial development of children affected by infection is supported by speech therapy, the use of hearing aids and other practices. However, it should be noted that hearing functions in infected newborns may be normal at birth, but these newborns are at risk for progressive sensorineural hearing loss. For early diagnosis of asymptomatic newborns, it is important to adopt CMV tests as a part of newborn screening programs. Another preventive approach is to treat the mother and the baby with antiviral drugs and preparations that directly target the virus. Passive immunization of the pregnant and the treatment of the symptomatic newborns with valganciclovir have yielded positive results. In this review article, maternal, fetal and newborn based current approaches used in the diagnosis and follow-up of congenital CMV infections have been discussed.


Assuntos
Infecções por Citomegalovirus , Criança , Infecções por Citomegalovirus/congênito , Infecções por Citomegalovirus/diagnóstico , Infecções por Citomegalovirus/epidemiologia , Infecções por Citomegalovirus/terapia , Feminino , Doenças Fetais/diagnóstico , Doenças Fetais/epidemiologia , Humanos , Recém-Nascido , Triagem Neonatal , Gravidez , Estudos Soroepidemiológicos , Turquia/epidemiologia
8.
Int J Gynaecol Obstet ; 148 Suppl 2: 29-35, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31975397

RESUMO

OBJECTIVE: To explore the perceptions and experiences of pregnant women in accessing healthcare services during the epidemic in Colombia during 2015-2016. METHODS: A qualitative study using semistructured interviews was conducted in Villavicencio. Six women who had been diagnosed with Zika virus infection during their pregnancies and whose fetus had suspected microcephaly participated in the investigation. Grounded theory was used and thematic content analysis was made for each category identified. RESULTS: Three main themes affecting access to healthcare services were identified: (1) women knew basic information about the virus, but it was limited; (2) access to services was delayed due to their lack of availability or limited supply in the municipality; and (3) most of the participants made out-of-pocket payments to get access to services that were not provided. CONCLUSIONS: Several gaps were identified in the provision of healthcare services to pregnant women during the Zika epidemic. Policy makers need to utilize the results from affected communities to develop and implement public policies that adapt and respond to their priorities and needs.


Assuntos
Acesso aos Serviços de Saúde/normas , Complicações Infecciosas na Gravidez/terapia , Infecção por Zika virus/terapia , Adulto , Colômbia , Epidemias , Feminino , Doenças Fetais/diagnóstico , Doenças Fetais/virologia , Teoria Fundamentada , Acesso aos Serviços de Saúde/economia , Humanos , Recém-Nascido , Microcefalia/diagnóstico , Microcefalia/virologia , Determinação de Necessidades de Cuidados de Saúde , Gravidez , Pesquisa Qualitativa , Zika virus , Infecção por Zika virus/transmissão
9.
BJOG ; 127(7): 829-837, 2020 06.
Artigo em Inglês | MEDLINE | ID: mdl-31971325

RESUMO

OBJECTIVE: To examine whether a method for raising women's awareness of fetal movements, Mindfetalness, can affect pregnancy outcomes. DESIGN: Cluster-randomised controlled trial. SETTING: Sixty-seven maternity clinics in Stockholm, Sweden. POPULATION: Women with singleton pregnancy with birth from 32 weeks' gestation. METHODS: Women registered at a clinic randomised to Mindfetalness were assigned to receive a leaflet about Mindfetalness (n = 19 639) in comparison with routine care (n = 20 226). Data were collected from a population-based register. MAIN OUTCOME MEASURES: Apgar score <7 at 5 minutes after birth, visit to healthcare due to decrease in fetal movements. Other outcomes: Apgar score <4 at 5 minutes after birth, small-for-gestational-age and mode of delivery. RESULTS: No difference (1.1 versus 1.1%, relative risk [RR] 1.0; 95% CI 0.8-1.2) was found between the Mindfetalness group and the Routine care group for a 5-minute Apgar score <7. Women in the Mindfetalness group contacted healthcare more often due to decreased fetal movements (6.6 versus 3.8%, RR 1.72; 95% CI 1.57-1.87). Mindfetalness was associated with a reduction of babies born small-for-gestational-age (RR 0.95, 95% CI 0.90-1.00), babies born after gestational week 41+6 (RR 0.91, 95% CI 0.83-0.98) and caesarean sections (19.0 versus 20.0%, RR 0.95; 95% CI 0.91-0.99). CONCLUSIONS: Mindfetalness did not reduce the number of babies born with an Apgar score <7. However, Mindfetalness was associated with the health benefits of decreased incidence of caesarean section and fewer children born small-for-gestational-age. TWEETABLE ABSTRACT: Introducing Mindfetalness in maternity care decreased caesarean sections but had no effect on the occurrence of Apgar scores <7.


Assuntos
Doenças Fetais/diagnóstico , Movimento Fetal , Atenção Plena/métodos , Gestantes/psicologia , Cuidado Pré-Natal/métodos , Adulto , Conscientização , Parto Obstétrico/métodos , Feminino , Doenças Fetais/psicologia , Humanos , Recém-Nascido , Gravidez , Resultado da Gravidez , Cuidado Pré-Natal/psicologia , Suécia
10.
Am J Obstet Gynecol ; 222(1): 81.e1-81.e13, 2020 01.
Artigo em Inglês | MEDLINE | ID: mdl-31306649

RESUMO

BACKGROUND: Doppler ultrasound measurements of the peak systolic velocity of the middle cerebral artery can be used to noninvasively diagnose fetal anemia but are less precise following fetal blood transfusion and in late gestation. We have previously demonstrated the feasibility of estimating fetal hematocrit in vitro using magnetic resonance imaging relaxation times. Here we report the use of magnetic resonance imaging as a noninvasive tool to accurately detect fetal anemia in vivo. OBJECTIVES: This study has 2 objectives: (1) to determine the feasibility and accuracy of magnetic resonance imaging in estimating hematocrit in anemic fetuses and (2) to compare magnetic resonance imaging and middle cerebral artery Doppler in detecting moderate to severe fetal anemia. STUDY DESIGN: Fetuses undergoing fetal blood sampling or transfusion underwent magnetic resonance imaging examinations prior to and following their procedures at 1.5 Tesla (Siemens Avanto). A modified Look-Locker inversion pulse sequence and T2 preparation sequence were applied for T1 and T2 mapping of the intrahepatic umbilical vein. Estimated fetal hematocrit was calculated using a combination of T1 and T2 values and compared with conventional hematocrit obtained from fetal blood samples and middle cerebral artery Doppler measurements. RESULTS: Twenty-three fetuses were assessed during 33 magnetic resonance imaging scans. The mean absolute difference between the laboratory and magnetic resonance imaging-estimated hematocrit was 0.06 ± 0.05 with a correlation of 0.77 (P < .001) determined by a multilevel, mixed-effects model adjusting for the repeated measurements from the same participants, multiple gestation pregnancies, and the scan type (ie, before or after transfusion scan). Bland-Altman analysis revealed a systematic bias of -0.03 between the magnetic resonance imaging and fetal blood sampling measurements. Magnetic resonance imaging and middle cerebral artery Doppler had similar sensitivities of approximately 90% to detect moderate to severe anemia. However, magnetic resonance imaging had a higher specificity (93% [13/14], 95% confidence interval, 66-100%) than Doppler (71% [10/14], 95% confidence interval, 42-92%). CONCLUSION: Moderate to severe fetal anemia can be detected noninvasively by magnetic resonance imaging with high sensitivity and specificity. Our results suggest an adjunct role for magnetic resonance imaging in fetuses with suspected anemia, particularly following previous transfusion and in late gestation.


Assuntos
Anemia/diagnóstico por imagem , Doenças Fetais/diagnóstico por imagem , Hematócrito , Artéria Cerebral Média/diagnóstico por imagem , Anemia/diagnóstico , Anemia/terapia , Velocidade do Fluxo Sanguíneo , Incompatibilidade de Grupos Sanguíneos/complicações , Transfusão de Sangue Intrauterina , Estudos Transversais , Feminino , Sangue Fetal/metabolismo , Doenças Fetais/diagnóstico , Doenças Fetais/terapia , Transfusão Feto-Fetal/complicações , Transfusão Feto-Fetal/terapia , Humanos , Imagem por Ressonância Magnética , Gravidez , Estudos Prospectivos , Sensibilidade e Especificidade , Índice de Gravidade de Doença , Ultrassonografia Doppler
11.
Obstet Gynecol ; 135(1): 133-140, 2020 01.
Artigo em Inglês | MEDLINE | ID: mdl-31809437

RESUMO

OBJECTIVE: To estimate the risk of stillbirth (fetal death at 20 weeks of gestation or more) associated with specific birth defects. METHODS: We identified a population-based retrospective cohort of neonates and fetuses with selected major birth defects and without known or strongly suspected chromosomal or single-gene disorders from active birth defects surveillance programs in nine states. Abstracted medical records were reviewed by clinical geneticists to confirm and classify all birth defects and birth defect patterns. We estimated risks of stillbirth specific to birth defects among pregnancies overall and among those with isolated birth defects; potential bias owing to elective termination was quantified. RESULTS: Of 19,170 eligible neonates and fetuses with birth defects, 17,224 were liveborn, 852 stillborn, and 672 electively terminated. Overall, stillbirth risks ranged from 11 per 1,000 fetuses with bladder exstrophy (95% CI 0-57) to 490 per 1,000 fetuses with limb-body-wall complex (95% CI 368-623). Among those with isolated birth defects not affecting major vital organs, elevated risks (per 1,000 fetuses) were observed for cleft lip with cleft palate (10; 95% CI 7-15), transverse limb deficiencies (26; 95% CI 16-39), longitudinal limb deficiencies (11; 95% CI 3-28), and limb defects due to amniotic bands (110; 95% CI 68-171). Quantified bias analysis suggests that failure to account for terminations may lead to up to fourfold underestimation of the observed risks of stillbirth for sacral agenesis (13/1,000; 95% CI 2-47), isolated spina bifida (24/1,000; 95% CI 17-34), and holoprosencephaly (30/1,000; 95% CI 10-68). CONCLUSION: Birth defect-specific stillbirth risk was high compared with the U.S. stillbirth risk (6/1,000 fetuses), even for isolated cases of oral clefts and limb defects; elective termination may appreciably bias some estimates. These data can inform clinical care and counseling after prenatal diagnosis.


Assuntos
Doenças Fetais/epidemiologia , Disrafismo Espinal/epidemiologia , Natimorto/epidemiologia , Adulto , Feminino , Doenças Fetais/diagnóstico , Feto , Humanos , Recém-Nascido , Nascimento Vivo/epidemiologia , Vigilância da População , Gravidez , Diagnóstico Pré-Natal , Estudos Retrospectivos , Medição de Risco , Disrafismo Espinal/diagnóstico , Estados Unidos/epidemiologia
12.
J Matern Fetal Neonatal Med ; 33(3): 482-492, 2020 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-29947269

RESUMO

The global incidence of diabetes mellitus, including diabetes in pregnant women, is on the rise. Diabetes mellitus in a pregnant woman jeopardizes not only maternal health but can also have significant implications on the child to be born. Therefore, timely diagnosis and strict glycemic control are of utmost importance in achieving a safe outcome for both the mother and fetus. The treating physician should be aware of the complications that can arise due to poor glycemic control during pregnancy. The objective of this article is to discuss the key concerns in a neonate born to diabetic mother, the underlying pathogenesis, and the screening schedule during pregnancy.


Assuntos
Diabetes Gestacional , Doenças Fetais/etiologia , Doenças do Recém-Nascido/etiologia , Gravidez em Diabéticas , Glicemia , Feminino , Doenças Fetais/diagnóstico , Doenças Fetais/terapia , Homeostase , Humanos , Recém-Nascido , Doenças do Recém-Nascido/diagnóstico , Doenças do Recém-Nascido/terapia , Programas de Rastreamento , Gravidez
13.
Arch Gynecol Obstet ; 301(1): 137-142, 2020 01.
Artigo em Inglês | MEDLINE | ID: mdl-31883047

RESUMO

PURPOSE: Phase-rectified signal averaging method (PRSA) represents an analysis method which applied on fetal cardiotocography (CTG) allows the quantification of the speed of fetal heart rate changes. By calculating the average deceleration capacity (ADC) an assessment of the fetal autonomic nervous system (ANS) is possible. The objective of this study was to test its ability to predict perinatal acidosis. METHODS: A case-control study was performed at a University Hospital in Munich. All intrapartum CTG heart rate tracings saved during a 7-year period were considered for analysis. All neonates born with an umbilical arterial blood pH ≤ 7.10 were considered as cases. Controls were defined as healthy fetuses born with a pH ≥ 7.25. The main matching criteria were gestational age at delivery, parity, birth mode, and birth weight percentile. Exclusion criteria were a planned caesarean section, fetal malformations, and multiple pregnancies. ADC and STV were then calculated during the last 60, the last 45, and the last 30 min intervals prior to delivery. RESULTS: Of all stored birth CTG recordings, 227 cases met the inclusion criteria and were studied. ADC was significantly higher in fetuses born with acidemia (4.85 bpm ± 3.0) compared to controls (3.36 bpm ± 2.2). The area under ROC curve was 0.659 (95% CI 0.608-0.710) for ADC and 0.566 (0.512-0.620) for STV (p = 0.013). CONCLUSIONS: This study confirms that the assessment of ADC using PRSA represents a good additional tool for the prediction of acute fetal acidosis during delivery.


Assuntos
Acidose/sangue , Cardiotocografia/métodos , Sangue Fetal/química , Doenças Fetais/diagnóstico , Estudos de Casos e Controles , Feminino , Sangue Fetal/citologia , Doenças Fetais/sangue , Frequência Cardíaca Fetal/fisiologia , Humanos , Masculino , Gravidez
14.
Theriogenology ; 142: 303-309, 2020 Jan 15.
Artigo em Inglês | MEDLINE | ID: mdl-31711710

RESUMO

During stage II of parturition, the bovine fetus is at risk of oxygen deficiency caused by insufficient gas exchange between the dam and the fetus. The early detection of this critical condition, followed by assistance at calving, can help to improve the vitality of the newborn calf, or even prevent it from being born dead. By using pulse oximetry, the arterial oxygen saturation, as well as the pulse rate, can be continuously and non-invasively measured. The aim of our study was to identify critical thresholds for the parameters 'arterial oxygen saturation (FSpO2)' and 'pulse rate (PR)' that indicate a severe postnatal risk for calves to suffer from acidosis. FSpO2 and PR from 40 bovine fetuses were recorded during the last 25 min of calving with a commercially available pulse oximeter (Radius-7, Masimo Corporation, Irvine, USA). The calves were tested immediately after birth for acidosis by analyzing their blood with a portable blood gas analyzer (VetScan iStat1, Abaxis Inc., Union City, USA). Retrospectively, the pulsoximetric data were scanned for predefined patterns. The validity of these patterns to predict acidosis in newborn calves was analyzed by using receiver operating characteristics (ROC) curve analyses. In general, PR was a stronger predictive parameter for acidosis than FSpO2, with the greatest area under the curve (AUC) for the PR criteria 'Pulse rate > 120 beats per minute (bpm) for at least 2 min', with an AUC of 0.764, in contrast to an AUC of 0.613 for the best FSpO2 criteria 'FSpO2 < 40% for at least 50% of the measurement'. Further studies should investigate whether vitality after calving can be improved and fetal death rate can be reduced when obstetric assistance is performed as soon as one of these criteria apply to the bovine fetus. For more practical implementation in the field, improvement of the device's hardware would be necessary.


Assuntos
Acidose/diagnóstico , Artérias/química , Doenças Fetais/diagnóstico , Monitorização Fetal , Frequência Cardíaca Fetal , Oximetria , Oxigênio/sangue , Acidose/veterinária , Animais , Animais Recém-Nascidos , Bovinos , Doenças dos Bovinos/diagnóstico , Feminino , Doenças Fetais/veterinária , Monitorização Fetal/métodos , Monitorização Fetal/veterinária , Trabalho de Parto/fisiologia , Masculino , Oximetria/métodos , Oximetria/veterinária , Oxigênio/análise , Valor Preditivo dos Testes , Gravidez , Prognóstico , Troca Gasosa Pulmonar/fisiologia , Reprodutibilidade dos Testes , Estudos Retrospectivos
16.
Orv Hetil ; 160(52): 2073-2078, 2019 Dec.
Artigo em Húngaro | MEDLINE | ID: mdl-31868009

RESUMO

The confirmed incidence of new-onset adrenal gland hemorrhage has increased with the development of ultrasound diagnostics in recent years. Intrauterine developed cases are rarely recognized. Differential diagnosis of cystic lesions of the adrenal gland is often only possible after birth. In our case study, we report the ultrasonographic diagnosis and follow-up of a cystic lesion measuring 4 × 3 cm in the left fetal epigastrium in the 33rd gestational week. During pregnancy, multimodal imaging methods (both ultrasound and magnetic resonance) have confirmed the diagnosis of hemorrhage in the left adrenal gland. In the 37th gestational week, the hematoma completely resolved. At term, a 4150 gram neonate was delivered in good condition by an elective cesarean section. Postnatal endocrinological and follow-up ultrasound examinations did not find any disorder. This study is the first published case report in the literature that proves that fetal adrenal hemorrhage can intrauterin spontaneously absorb within a short period of time. Our case draws attention to the fact that adrenal bleeding may occur in the newborn regardless of birth trauma. It can also be assumed that the incidence of adrenal bleeding during pregnancy is higher than that reported in neonatal cases. Orv Hetil. 2019; 160(52): 2073-2078.


Assuntos
Doenças das Glândulas Suprarrenais/diagnóstico por imagem , Doenças das Glândulas Suprarrenais/diagnóstico , Glândulas Suprarrenais/diagnóstico por imagem , Glândulas Suprarrenais/patologia , Doenças Fetais/diagnóstico , Hemorragia/patologia , Ultrassonografia Pré-Natal/métodos , Cesárea , Diagnóstico Diferencial , Feminino , Humanos , Recém-Nascido , Gravidez
17.
Obstet Gynecol Surv ; 74(10): 611-622, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31670834

RESUMO

Objective: To review what is currently known about placental mesenchymal dysplasia (PMD) including imaging techniques for diagnosis and differentiation from a molar pregnancy, genetics, maternal/fetal effects, and management. Evidence Acquisition: A literature search by research librarians at 2 universities was undertaken using the search engines PubMed and Web of Science. The search terms used were "etiology" OR "cause" OR "risk" OR "risks" OR "epidemiology" OR "diagnosis" OR "therapy" OR "prognosis" OR "management" AND "placental mesenchymal dysplasia" OR "placenta" AND "mesenchymal dysplasia." No limit was put on the number of years searched. Results: The etiology of PMD remains uncertain, although there are a number of theories on causation. An elevated maternal serum α-fetoprotein level, slightly elevated human chorionic gonadotropin level, normal karyotype, multicystic lesions on ultrasound, and varying degrees of flow within cysts using color Doppler (stained-glass appearance) are helpful in making the diagnosis. On pathologic examination of the placenta, PMD is differentiated from molar pregnancy by the absence of trophoblastic hyperplasia. Fetal complications of PMD include hematologic disorders, Beckwith-Wiedemann syndrome, liver tumors, fetal growth restriction, preterm delivery, and intrauterine fetal demise. Maternal complications include gestational hypertension, preeclampsia, HELLP (hemolysis, elevated liver function tests, low platelets) syndrome, and eclampsia. Conclusions: Accurate diagnosis of PMD is imperative for appropriate management and surveillance to minimize adverse maternal and fetal outcomes. Relevance: The importance of a correct diagnosis of PMD is important because it can be misdiagnosed as a partial molar pregnancy or a complete mole with coexisting normal fetus, and this can result in inappropriate management.


Assuntos
Doenças Fetais/etiologia , Doenças Placentárias/diagnóstico , Placenta/patologia , Adulto , Vilosidades Coriônicas/diagnóstico por imagem , Vilosidades Coriônicas/patologia , Diagnóstico Diferencial , Feminino , Doenças Fetais/diagnóstico , Humanos , Imageamento Tridimensional , Placenta/diagnóstico por imagem , Doenças Placentárias/etiologia , Doenças Placentárias/patologia , Gravidez , Ultrassonografia Doppler em Cores , Ultrassonografia Pré-Natal
18.
Tunis Med ; 97(3): 500-503, 2019 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-31729726

RESUMO

A mother presented with a fetus at 22±1 weeks of gestation with a sustained supraventricular tachycardia  (SVT) at initially 186 beat per minute (bpm). The fetal M-mode echocardiography showed a 1/1 atrio ventricular ratio (with short atrioventricular (AV) interval and a long ventriculo-atrial (VA) interval, suggesting a Persistent junctional reciprocating tachycardia (PJRT) . Upon  initial present no signs of heart failure or hydrops  were noted and treament was initiated with amiodarone and  digoxin . Fetus heart rate slowed  .Postnatal electrocardiogram  Confirmed  the diagnosis of PJRT New born was put on amiodarone and proparonal). Sinus rhythm was rapidly achieved 9 days later .The patient doing well at  10 months of age with maintain of sinus rhythm. Conclusion: our case report illustrates  a particular  form of  JRT   diagnosed  prenatal PJRT  , characterized  by  a good clinical tolerance, its absence of evolution towards cardiomyopathy  and its rapid and unusual response to antiarrhythmics.


Assuntos
Antiarrítmicos/uso terapêutico , Doenças Fetais , Taquicardia Ectópica de Junção/diagnóstico , Taquicardia Ectópica de Junção/tratamento farmacológico , Taquicardia Reciprocante/diagnóstico , Taquicardia Reciprocante/tratamento farmacológico , Adulto , Amiodarona/administração & dosagem , Digoxina/administração & dosagem , Quimioterapia Combinada , Ecocardiografia , Eletrocardiografia , Feminino , Doenças Fetais/diagnóstico , Doenças Fetais/tratamento farmacológico , Idade Gestacional , Frequência Cardíaca Fetal , Humanos , Recém-Nascido , Masculino , Gravidez , Segundo Trimestre da Gravidez/efeitos dos fármacos , Segundo Trimestre da Gravidez/fisiologia , Taquicardia Ectópica de Junção/congênito , Taquicardia Reciprocante/congênito , Ultrassonografia Pré-Natal
19.
Taiwan J Obstet Gynecol ; 58(6): 814-819, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31759534

RESUMO

OBJECTIVE: Cavum veli interpositi (CVI) is a potential space below the splenium of corpus callosum and sometimes presents as a cyst. MATERIALS AND METHODS: In this prospective cross-sectional study, 360 fetuses with normal second trimester scan and 152 s trimester fetuses with structural abnormalities were included. RESULTS: The CVI cysts were more common in fetuses with brain anomaly compared to normal fetuses and fetuses with extra-central nervous system (CNS) anomalies (23% vs 18.3% and 18% respectively; p value < 0.01). The mean size of cysts in normal fetuses, fetuses with extra-CNS anomalies and fetuses with brain abnormalities was 4.6 mm, 5.8 mm and 9.2 mm respectively. There was a significant difference between cysts size in normal fetuses and fetuses with brain anomalies (p value < 0.01) and the cut-point was 7.1 mm. CONCLUSION: The prevalence of CVI cysts is more in fetuses with brain anomaly. Fetuses with a cyst size >7.1 mm need a more detailed brain examination.


Assuntos
Encefalopatias/diagnóstico , Ventrículos Cerebrais/diagnóstico por imagem , Cistos/diagnóstico , Doenças Fetais/diagnóstico , Segundo Trimestre da Gravidez , Ultrassonografia Pré-Natal/métodos , Adulto , Encefalopatias/embriologia , Encefalopatias/epidemiologia , Ventrículos Cerebrais/embriologia , Estudos Transversais , Cistos/embriologia , Cistos/epidemiologia , Diagnóstico Diferencial , Feminino , Doenças Fetais/epidemiologia , Seguimentos , Humanos , Irã (Geográfico)/epidemiologia , Masculino , Gravidez , Prevalência , Estudos Prospectivos
20.
Taiwan J Obstet Gynecol ; 58(6): 820-826, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31759535

RESUMO

OBJECTIVE: According to World Health Organization's Jungner and Wilson criteria for competent screening programs, routine antenatal ultrasound screening is legit and effective to improve both maternal and perinatal outcomes. Health Promotion Administration, Ministry of Health and Welfare in Taiwan followed expert recommendations and started reimbursing one antenatal ultrasonography around mid-second trimester since 1995. However, medical disputes pertaining to examination results grew, while confusions challenged doctors and patients alike. The aim of this study is to assess current use of antenatal ultrasonography for low-risk pregnancies in Taiwan. Specifically, the indications, test frequencies, test items, methods of payment, obstetricians' opinions on important scan timing and areas to be improved are surveyed and analyzed. An overview of international antenatal ultrasound practice guidelines are examined and compared to enhance the quality of antenatal ultrasound screening in Taiwan. MATERIALS AND METHODS: From December 2015 to December 2016, 925 questionnaires were distributed to all licensed obstetricians registered to Taiwan Association of Obstetrics and Gynecology as well as Taiwan Society of Perinatology. A 10-min self-reporting questionnaire was sent by mail, with stamped return envelopes included. Respondents remained entirely anonymous and disclosed no personal information. Data was collected and analyzed for statistical analysis. RESULTS: Most hospitals are well equipped with ultrasound machines of 3 or more functions. Eighty-eight percent of the obstetricians in Taiwan perform prenatal ultrasonography in every office visit for their patients, mostly free of charge. Scans at gestational age 15-22 weeks, <10 weeks, 11-14 weeks and 28-32 weeks are polled as the most importance in the order of significance. In general, they perceive the one-time antenatal scan offered by the Health Promotion Administration as for general obstetrics scan but not higher-leveled studies. Patient education and doctor-patient communications are opined as the 2 most important aspects to enhance antenatal ultrasound quality. CONCLUSION: This report is the first of its kind in Taiwan. It could potentially serve as guidance for national health policy innovations in maternal and fetal care, such as increasing frequency of scans, specifications of scan timing, indications and consequences as well as patient education about this screening modality.


Assuntos
Doenças Fetais/diagnóstico , Obstetrícia/estatística & dados numéricos , Cuidado Pré-Natal/estatística & dados numéricos , Inquéritos e Questionários , Ultrassonografia Pré-Natal/estatística & dados numéricos , Feminino , Idade Gestacional , Humanos , Masculino , Gravidez , Estudos Retrospectivos , Sociedades Médicas , Taiwan
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