Figure - available from: Abdominal Radiology
This content is subject to copyright. Terms and conditions apply.
Complex fetal anatomical anomalies-body stalk anomaly. Images of a pathology specimen of an 18-week male fetus show gastroschisis containing bowel and liver (long arrows), cleft cranium and upper lip (short arrow), limb deformities with absent left arm (arrowheads), and an encephalocele (curved black arrow). Also note presence of amniotic bands (black arrows)
Source publication
Maternal serum alpha-fetoprotein is a valuable laboratory test used in pregnant women as an indicator to detect certain clinical abnormalities. These can be grouped into four main categories: fetal factors, pregnancy complications, placental abnormalities, and maternal factors. Imaging is an invaluable tool to investigate the various etiologies lea...
Citations
... Posteriormente, se estabiliza y se mantiene constante hasta la semana 32. El feto excreta la alfafetoproteína en forma de orina en el líquido amniótico, y luego se transporta al suero materno mediante un proceso de difusión (25). ...
Introducción: las pruebas de screening prenatal del primer y segundo trimestre permiten tamizar anomalías congénitas comunes (trisomía 21, 18 y 13) en embarazadas. Objetivo: describir la utilidad de las pruebas de screening prenatal del primer y segundo trimestre para la detección temprana de cromosomopatías. Metodología: se realizó una revisión sistemática, descriptiva, no participativa y no observacional utilizando bases de datos y registros científicos. Se siguieron las directrices de PRISMA y el enfoque PICO. Se seleccionaron 10 artículos originales y revisiones relevantes en inglés publicadas en los últimos cinco años. Resultados: se analizó 10 artículos originales sobre pruebas de tamizaje de cromosomopatías en el primer y segundo trimestre, incluyendo las pruebas de detección prenatal no invasivas (NIPS). En el primer trimestre, el 57% reporto valores de PAPP-A mayores de 0,5 MoM como normales, mientras que el 25% mostró valores atípicos de β-hCG libre en suero materno (>1,5 MoM). En el segundo trimestre, el 25% destaco la eficiencia de combinaciones de marcadores. El 67% de las pruebas de detección prenatal no invasivas se centraron en el tamizaje de trisomías comunes y el 33% en aneuploidías sexuales y otras cromosomopatías. Conclusión: el personal de Salud y especialmente el área de Laboratorio clínico se ve involucrado en dar a conocer a las pacientes acerca de las ventajas y desventajas que cada una de las pruebas brinda; además promover el control prenatal desde la concepción. Área de estudio general: Medicina. Área de estudio específica: Laboratorio Clínico. Tipo de estudio: Artículo de revisión bibliográfica.
... Concerning the trigger of PAS diseases, the most ideal hypothesis is the deficiency of the uterine interface between the endometrium and myometrium leading to an abnormal decidualization at the uterine scar area, which permits the placental anchoring villous and trophoblasts deeply penetrate the uterine myometrial layer. 3,5,25,26 Normal endometrial decidualization plays a vital role in early placental formation and development; the decidual tissues can not only provide a channel that provides nutrients for fetal development, but also resist the excessive invasion of villous trophoblast cells to the mother. 27,28 Endometrial decidualization occurs between the placenta and the mother, in which decidual stromal cells (DSCs) are the main cell components. ...
... 52,53 In order to avoid false-positive results, the detection of maternal AFP in screening PAS must be combined with the detection of high-risk women to screen for PAS with serological tests, and then the use of higher resolution imaging tools like 3-dimensional ultrasound or MRI to exclude these fetal abnormalities. 25 Invasive amniocentesis can be performed after 15 weeks of gestation if ultrasound and MRI cannot rule out those fetal abnormalities. 54 Hence, the pickup of high-risk women to screen for PAS with the serological test is fundamental and can be done through the clinical assessment of PAS risk factors or the use of other highly specific diagnostic tools such as using color Doppler ultrasound and MRI or invasive amniocentesis to exclude any fetal abnormalities that can falsify the results. ...
Background:
Placenta accreta spectrum (PAS) is the most common obstetric complication in current obstetrics in which the placenta is fully or partially attached to the uterine myometrial layer at delivery. This is commonly due to the deficiency of the uterine interface between the uterine endometrial and myometrial layers leading to abnormal decidualization at the uterine scar area, which permits the abnormally placental anchoring villous and trophoblasts, deeply invade the myometrium. The prevalence of PAS is globally at rising trends every day in modern obstetrics originally due to the high increasing rate of cesarean sections, placenta previa, and assisted reproductive technology (ART). Thus, the early and precise diagnosis of PAS is imperative to prevent maternal intrapartum or postpartum bleeding complications.
Objective:
The main aim of this review is to debate the current challenges and controversies in the routine diagnosis of PAS diseases in obstetrics.
Data source:
We retrospectively reviewed the recent articles on different methods of diagnosing PAS in PubMed, Google Scholar, Web of Science, Medline, Embase, and other website databases.
Results:
Despite that, the standard ultrasound is a reliable and key tool for the diagnosis of PAS, the lack of ultrasound features does not exclude the diagnosis of PAS. Therefore, clinical assessment of risk factors, MRI tests, serological markers, and placental histopathological tests are also indispensable for the prediction of PAS. Previously, limited studies reached a high sensitivity rate of diagnosis PAS in appropriate cases, while many studies recommended the inclusion of different diagnosis methods to improve the diagnosis accuracy.
Conclusion:
A multidisciplinary squad with well-experienced obstetricians, radiologists, and histopathologists should be involved in the establishment of the early and conclusive diagnosis of PAS.
... As is shown in Table 5, the risk of PROM (RR = 1.769) and placenta previa (RR = 2.722) in pregnant women with elevated serum AFP levels were much higher. Aboughalia et al. (33) believed that the increase in serum AFP can be regarded as a doubling of the risk of PROM. Annular placenta is associated with a higher incidence of IUGR, premature delivery rate, and intrapartum hemorrhage. ...
Background
To evaluate the correlation between elevated maternal serum alpha-fetoprotein (AFP) in the second trimester and ischemic placental disease (IPD).
Methods
A retrospective cohort study was conducted to analyze the data of 22,574 pregnant women who delivered in the Department of Obstetrics at Hangzhou Women’s Hospital from 2018 to 2020, and were screened for maternal serum AFP and free beta-human chorionic gonadotropin (free β-hCG) in the second trimester. The pregnant women were divided into two groups: elevated maternal serum AFP group (n = 334, 1.48%); and normal group (n = 22,240, 98.52%). Mann-Whitney U-test or Chi-square test was used for continuous or categorical data. Modified Poisson regression analysis was used to calculate the relative risk (RR) and 95% confidence interval (CI) of the two groups.
Results
The AFP MoM and free β-hCG MoM in the elevated maternal serum AFP group were higher than the normal group (2.25 vs. 0.98, 1.38 vs. 1.04) and the differences were all statistically significant (all P < .001). Placenta previa, hepatitis B virus carrying status of pregnant women, premature rupture of membranes (PROM), advanced maternal age (≥35 years), increased free β-hCG MoM, female infants, and low birth weight (RR: 2.722, 2.247, 1.769, 1.766, 1.272, 0.624, 2.554 respectively) were the risk factors for adverse maternal pregnancy outcomes in the elevated maternal serum AFP group.
Conclusions
Maternal serum AFP levels during the second trimester can monitor IPD, such as IUGR, PROM, and placenta previa. Maternal women with high serum AFP levels are more likely to deliver male fetuses and low birth weight infants. Finally, the maternal age (≥35 years) and hepatitis B carriers also increased maternal serum AFP significantly.
... Хоча біологічна роль АФП залишається незрозумілою, загальновідомо, що рівні АФП можуть змінюватися через специфічні клінічні та генетичні зміни плода. Відомо, що зміни синтезу АФП пов'язані з багатьма патологіями фетоплацентарного комплексу та внутрішньоутробного стану плода [6,8,11,13,14,20]. До крові матері АФП потрапляє через амніотичну рідину та плаценту. ...
... Доведений зв'язок між концентрацією АФП у крові матері та рівнями гемоглобіну, еритроцитів, еритропоетину [14]. Вивчено, що АФП відіграє роль регулятора ембріонального еритропоезу. ...
Background. Intrauterine infection remains the main problem of perinatology. Early diagnosis of such infection causes enough difficulties and requires improvement. This study is devoted to the problem of predicting non-immune fetal hydrops if a woman is infected with parvovirus B19 in the II trimester of pregnancy.Objectives: to improve the diagnosis of non-immune fetal hydrops on the basis of changes in the α-fetoprotein (AFP) value in maternal blood during parvovirus B19 infection .Materials and methods. Serial AFP determination in blood serum of pregnant women infected with parvovirus B19 (n = 16) at 18–20–22 weeks of pregnancy was carried out. Biochemical analysis of AFP in amniotic fluid was performed after prenatal invasive examination in fetuses with non-immune hydrops. The obtained data were compared with similar indicators of pregnant women from the control group (n = 16) with a normal course of pregnancy in the II trimester. Transabdominal amniocentesis was performed under ultrasound control at 16–20 weeks of gestation for fetuses with non-immune hydrops. Determination of the AFP value in the blood serum of pregnant women in the II trimester was performed with a chemiluminescence immunoassay analyzer.Results. It was established that the AFP level in maternal blood reaches and exceeds threshold values (2.6 ± 0.05 MoM) on average 2.5 ± 0.5 weeks before the manifestation of severe fetal anemia in infected fetus with non-immune hydrops (r = 0.768, p < 0.001). That is, a sharp AFP increase in the blood of a pregnant woman infected with parvovirus B19 is a predictor of the development of non-immune fetal hydrops due to parvovirus B19 infection.Conclusions. The described method has proven to be highly effective, it is allows reducing the frequency of ultrasound examinations for infected women, because the fetus is not always infected from an infected mother. This technique can be used as a predictor of intrauterine parvovirus B19 infection in the II trimester, which will allow the development of new approaches to the early diagnosis of non-immune fetal hydrops, as well as contribute to timely intrauterine hemotransfusion.
... Encephalocele refers to protrusion of intracranial structures through a defect in the skull, most commonly occurring in the occipital or frontal regions (Fig 6, Movie 3). On the basis of the contents, a protrusion containing only meninges and cerebrospinal fluid is called a meningocele, while the presence of brain tissue in the sac content is known as an encephalomeningocele. Encephalocele outcome depends on its content and location, and cesarean delivery is often pursued to avoid injury of the intracranial structure at the time of delivery (24,25). ...
Diabetes mellitus, whether preexisting or gestational, poses significant risk to both the mother and the developing fetus. A myriad of potential fetal complications in the setting of diabetic pregnancies include, among others, congenital anomalies, delayed fetal lung maturity, macrosomia, and increased perinatal morbidity and mortality. Congenital anomalies most commonly involve the nervous, cardiovascular, genitourinary, and musculoskeletal systems. Delayed fetal lung maturity, probably secondary to hyperglycemia suppressing surfactant secretion, is a major determinant of perinatal morbidity and mortality. Besides the potential complications encountered during cesarean delivery in macrosomic fetuses, vaginal delivery is also associated with increased risks of shoulder dystocia, clavicular and humeral fractures, and brachial plexus palsy. Maternal complications are related to the increased risk of hypertensive diseases of pregnancy and associated preeclampsia and hemolysis, elevated liver function, and low platelets (HELLP) syndrome, as well as complications encountered at the time of delivery secondary to fetal macrosomia and cesarean delivery. Additional conditions encountered in the setting of maternal diabetes include polyhydramnios, placental thickening, and two-vessel umbilical cord, each of which is associated with adverse fetal and maternal outcomes including fetal growth restriction, preterm labor, placental abruption, and premature rupture of membranes. Imaging plays a vital role in the evaluation of the mother and the fetus and can provide invaluable information that can be used by maternal fetal medicine to manage this patient population effectively. The authors review the pathophysiologic alterations induced by diabetes in pregnancy, discuss the imaging spectrum of diabetic embryopathy, and provide a detailed review of potential associated maternal complications. Online supplemental material is available for this article. ©RSNA, 2021.
... Physiological synthesis of AFP in fetal liver gradually increase from 20 weeks of gestation and reach a stable state at 32 weeks. AFP is excreted into the amniotic uid by fetus's urine, and then spread across the placenta to the maternal serum [11]. In 1972, British scientists were the rst to recognize that high AFP level could be used to diagnose neural tube malformations in fetuses [12]. ...
Objective: To present the prenatal diagnosis of trisomy 18 and to review of the literature.
Case: A 29-year-old pregnant woman was showed high risk of trisomy 18 by maternal serum screening at 16 weeks' of gestation, showing elevated AFP(125 U/mL, 3.25 MoM), low free β-hCG (3.29 ng/mL,0.11MoM), low PAPP-A (1120 mU/L, 0.31MoM). She asked for an amniocentesis because the risk value for trisomy 18 was 1/5 and trisomy 21 was 1/77121. Results: The results of amniocentesis on Prenatal BoBs revealed a fetus with trisomy 18, whose karyotype of amniotic fluid cells was 47, XY, +18. Ultrasonography demonstrated intrauterine pregnancy, single live fetus, multiple abnormalities including "strawberry head ", bilateral multiple choroid plexus cysts, cleft lip and palate, and atrioventricular septal defect. The pregnancy was terminated subsequently.
Conclusion: Trisomy 18 can be identified in prenatal screening with advanced maternal age, abnormal maternal serum screen results, and multi-structural abnormal ultrasonography results. Fetuses with trisomy 18 may be associated with congenital heart disease, neural tube malformation, abdominal valgus, omphalocele, multiple cysts in bilateral choroid plexus, cleft lip and palate, elevated AFP, and decreased free β-hCG and PAPP-A.
Rationale
Trisomy 18, also referred to as Edwards syndrome, is the second most common autosomal trisomy syndrome. Trisomy 18 can be identified during prenatal screening by the detection of abnormal maternal serum results and one or more structural abnormalities on ultrasound. Previous studies confirmed that levels of pregnancy-related plasma protein A, alpha-fetoprotein, and free β-subunit of human chorionic gonadotropin in the serum of pregnant women carrying fetuses with trisomy 18 were lower than those in women with normal pregnancies.
Patient concerns
A 29-year-old pregnant woman with a high risk of trisomy 18 underwent maternal serum screening at 16 weeks of gestation. The patient exhibited an elevated level of maternal serum alpha-fetoprotein (125 U/mL; 3.5225-fold higher than the multiple of the median). Ultrasonography revealed multiple abnormalities.
Diagnoses
Culture of amniotic fluid cells revealed a karyotype of 47, XY, +18.
Interventions and outcomes
The pregnancy was terminated.
Lessons
Trisomy 18 can be identified prenatally by detection of abnormal levels of key proteins in the maternal serum, and detection of one or more structural abnormalities by ultrasound screening. Prenatal serological screening combined with ultrasound can effectively diagnose fetuses with trisomy 18 in the second trimester.
Congenital anomalies of the spine are associated with substantial morbidity in the perinatal period and may affect the rest of the patient's life. Accurate early diagnosis of spinal abnormalities during fetal imaging allows prenatal, perinatal, and postnatal treatment planning, which can substantially affect functional outcomes. The most common and clinically relevant congenital anomalies of the spine fall into three broad categories: spinal dysraphism, segmentation and fusion anomalies of the vertebral column, and sacrococcygeal teratomas. Spinal dysraphism is further categorized into one of two subtypes: open spinal dysraphism and closed spinal dysraphism. The latter category is further subdivided into those with and without subcutaneous masses. Open spinal dysraphism is an emergency and must be closed at birth because of the risk of infection. In utero closure is also offered at some fetal centers. Sacrococcygeal teratomas are the most common fetal pelvic masses and the prognosis is variable. Finally, vertebral body anomalies are categorized into formation (butterfly and hemivertebrae) and segmentation (block vertebrae) anomalies. Although appropriate evaluation of the fetal spine begins with US, which is the initial screening modality of choice, MRI is increasingly important as a problem-solving tool, especially given the recent advances in fetal MRI, its availability, and the complexity of fetal interventions. Online supplemental material is available for this article. ©RSNA, 2021.
