Analysis of 270 fetuses with non-visualization of cavum septi pellucidi and vergae on in-utero magnetic resonance imaging.

OBJECTIVE: To analyze a large retrospective cohort of fetuses in which the cavum septi pellucidi and vergae (CSPV) was not present or was not in its expected position on in-utero magnetic resonance imaging (iuMRI), in order to describe the possible causes of that finding and provide a diagnostic approach to assess such cases in clinical practice using iuMRI. METHODS: This was a retrospective study of fetuses that underwent iuMRI at a single institution, over an 18-year period (2000-2017 inclusive), in which the CSPV was not visualized or was abnormal. All iuMRI studies were reviewed and classified as CSPV being not present, disrupted (visualization of remnants of an otherwise normally placed CSPV) or malpositioned (CSPV was present, but not in its expected position). We describe the neuropathology present in each of the groups. RESULTS: Of the 270 fetuses that met the inclusion criteria, the CSPV was described as malpositioned in 150 (56%), disrupted in 71 (26%) and not present in 49 (18%). Malpositioned CSPV was present only in cases with agenesis of the corpus callosum and three specific patterns of malpositioning are described, depending on the location of the leaflets of the CSPV and fornix. Disrupted CSPV was present in fetuses with hydrocephalus or pathologies causing extensive brain parenchymal injury. Not present CSPV was found in cases with holoprosencephaly or when absence of the CSPV appeared to be an isolated finding. CONCLUSION: We have described a large cohort of fetuses with non-visualization of a normal CSPV on iuMRI and present a categorical classification system based on the CSPV being not present, disrupted or malpositioned. This approach should help in the diagnosis of the underlying cause of a CSPV abnormality. © 2019 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.

Effects of Changing Diagnostic Criteria for Gestational Diabetes Mellitus in Queensland, Australia.

OBJECTIVE: To evaluate the effects of updated gestational diabetes mellitus (GDM) screening and diagnostic criteria on selected perinatal outcomes in Queensland, Australia. METHODS: This was a pre-post comparison study using perinatal data the year before (2014) and after (2016) the screening and diagnostic criteria for GDM was changed in Queensland, Australia. In 2015, Queensland adopted the one-step screening and diagnostic criteria based on the International Association of the Diabetes and Pregnancy Study Groups' recommendations. The data from 62,517 women in 2014 and 61,600 women in 2016 who gave birth from 24 weeks of gestation were analyzed in three groups in each year: women with GDM; women without diagnosed GDM; and total population. The outcome measures were gestational hypertension, cesarean birth, gestational age at delivery, birth weight, preterm delivery, large-for-gestational age (LGA) neonates, small-for-gestational-age (SGA) neonates, neonatal hypoglycemia, and respiratory distress. RESULTS: The diagnosis of GDM increased from 8.7% (n=5,462) to 11.9% (n=7,317). After changing the diagnostic criteria, the changes to outcomes, odds ratios (OR), and adjusted odds ratios (aOR) (95% CI) for outcomes with statistically significant differences for the total population were: gestational hypertension 4.6% vs 5.0%, OR 1.09 (1.03-1.15), aOR 1.07 (1.02-1.13); preterm birth 7.6% vs 8.0%, OR 1.05 (1.01-1.09), aOR 1.06 (1.02-1.10); neonatal hypoglycemia 5.3% vs 6.8%, OR 1.31 (1.25-1.37), aOR 1.32 (1.25-1.38); and respiratory distress 6.2% vs 6.0%, OR 0.96 (0.91-1.00), aOR 0.94 (0.89-0.99). There was no change to cesarean births or LGA or SGA neonates for women with or without diagnosed GDM or the total population. CONCLUSION: Except for a very small decrease in respiratory distress, changing the diagnostic criteria has resulted in more GDM diagnoses with no observed changes to measured perinatal outcomes for women with and without diagnosed GDM.

Including prenatal diagnoses in birth defects monitoring: Experience of the Metropolitan Atlanta Congenital Defects Program.

BACKGROUND: Advances in prenatal diagnosis have led to changes in the management of pregnancies affected with birth defects. These changes pose unique challenges for birth defects monitoring programs which use hospital-based sources. METHODS: In 1994, Metropolitan Atlanta Congenital Defects Program (MACDP) abstractors began to visit area perinatologists' offices to identify pregnancies diagnosed prenatally with fetal defects. These pregnancies were then linked with existing MACDP cases and the hospital deliveries abstracted. Those without a hospital delivery were included as having unknown outcomes. Prenatally diagnosed defects were classified as definite or possible based on the certainty of the prenatal description. For 1995-2004, we calculated minimum and maximum adjusted defect prevalences by adding definite prenatal defects, and definite plus possible prenatal defects, to the hospital-based cases. RESULTS: We identified 1009 pregnancies with a prenatally diagnosed defect not ascertained from MACDP hospital sources. Including these increased the total defect prevalence from 28 per 1000 live births to a minimum of 29.94 (6.9% increase) and maximum of 30.14 (7.7% increase) per 1000. The minimum increase was greater than 50% for conjoined twins, triploidy, craniorachischisis, cystic hygroma, Klinefelter syndrome, anencephaly, Turner syndrome, and trisomies 13, 18 and 21 among mothers >or=35. CONCLUSIONS: These data reflect the variety of congenital abnormalities that can be detected prenatally and the importance of including prenatal diagnoses in birth defects monitoring data. Birth defects monitoring programs should assess individually the extent to which prenatal diagnosis can affect the accuracy and completeness of their data. Birth Defects Research (Part A), 2009. Published 2008 Wiley-Liss, Inc.

Fibrocondrogénesis: diagnóstico prenatal en feto de 22 semanas / Fibrocondrogenesis: prenatal diagnosis in a fetus at 22 weeks

Las displasias esqueléticas son patologías que presentan una alteración generalizada del tejido óseo y constituyen una de las causas más frecuentes del retardo severo del crecimiento. Si bien algunas son más comunes que otras, en conjunto presentan una frecuencia de aparición elevada de aproximadamente 1 en 3.000 a 1 en 5.000 recién nacidos. Los criterios usados para la distinción y clasificación de los trastornos genéticos del esqueleto han sido características clínicas como el crecimiento, la edad de comienzo del retardo del crecimiento, la presencia y naturaleza de las alteraciones en las proporciones corporales, y criterios radiológicos...

Lactante menor con malformación dela vena de galeno y malformaciones cardiacas asociadas / Newborn with vein of galen malformation and concurrent cardiac malformation

La malformación aneurismática de la vena de Galeno (MAVG) es poco frecuente, pues tiene una prevalencia calculada en menos de uno en 25 000 nacidos vivos. Puede causar una alta morbilidad y mortalidad en neonatos y, con menor frecuencia, en niños mayores. Está ubicada en el plexo coroideo, en el techo del tercer ventrículo, en la región del velum interpositum. Se presenta como una fístula arteriovenosa, usualmente entre las arterias coroidales y el saco aneurismático, lo que lleva a una dilatación de la vena de Galeno. Cuando los neonatos son sintomáticos, la presentación clínica usual de la MAVG es una falla cardiaca de alto gasto, que se ha reportado hasta en el 94 % de los neonatos a quienes se les diagnostica una MAVG. En el pasado, dicha falla progresaba rápidamente a falla multiorgánica y muerte; sin embargo, actualmente las técnicas endovasculares y las unidades de cuidado intensivo han mejorado el mal pronóstico de la MAVG. Se presenta el caso de un recién nacido con diagnóstico antenatal de MAVG con malformaciones cardiacas, que en el momento vive, a pesar del pronóstico reportado en la literatura...

Vein of Galen Aneurysmal Malformations(VGAM) is a rare malformation with a prevalenceestimated at less than one in 25,000 live births.This malformation can cause high morbidity andmortality in neonates and less frequently in olderchildren. Is a complex vascular malformation ofthe choroid, in the roof of the third ventricle, inthe region of the velum interpositum. It is presentedas an arteriovenous fistula, usually betweenthe choroidal arteries and the aneurysm sac, leadingto a dilated vein of Galen. When infants aresymptomatic, the usual clinical presentation ofheart failure VGAM is high output, which hasbeen reported in up to 94 % of infants who arediagnosed with a VGAM. In the past, such failurerapidly progressed to multiorgan failure anddeath, with mortality reported up to 100 %, butnow advances in endovascular techniques andintensive care units have improved the poor prognosisof VGAM...

Prenatal screening and genetics.

Although the term 'genetic screening' has been used for decades, this paper discusses how, in its most precise meaning, genetic screening has not yet been widely introduced. 'Prenatal screening' is often confused with 'genetic screening'. As we show, these terms have different meanings, and we examine definitions of the relevant concepts in order to illustrate this point. The concepts are i) prenatal, ii) genetic screening, iii) screening, scanning and testing, iv) maternal and foetal tests, v) test techniques and vi) genetic conditions. So far, prenatal screening has little connection with precisely defined genetics. There are benefits but also disadvantages in overstating current links between them in the term genetic screening. Policy making and professional and public understandings about screening could be clarified if the distinct meanings of prenatal screening and genetic screening were more precisely observed.

[References for prenatal diagnosis of morphological defects including the central nervous system]. / Hinweise für die pränatale Diagnostik von morphologischen Defekten mit Einschluss des Zentralnervensystems.

Clinical and autopsy records of 209 stillborn and 81 miscarried infants with 484 congenital defects of the central nervous system were analysed. Sets of more than one defect were retrospectively classified by pathogenetic criteria as syndrome, sequence, association and midline defects. Pathogenetic thinking makes the prenatal diagnosis of further defects easier if one has already been diagnosed. Statements regarding the most probable localisation of neural tube defects have been made.

Prevençäo de malformações congênitas / Congenital malformations prevention

A idéia de escrever este artigo surgiu a partir da experiência didática, durante os últimos 22 anos, sobre temas referentes à embriologia geral (formaçäo do zigoto humano até o início do período embrionário) e embriologia especial (diferenciaçäo dos sistemas orgânicos), de um simpósio interno CAMU I - Unesa-2001 e, finalmente, da VIII Semana Científica da FMP, em 2002, sobre "Medicina: uma preocupaçäo com a saúde ou com a doença". Segundo a OMS (1999), o nível primário representa evitar que aconteça o modelo genético, o secundário representa evitar a recorrência das doenças entre as famílias e o terciário representa a reabilitaçäo dos problemas decorrentes destas doenças. A prevençäo das malformações congênitas, sobretudo, se faz mais essencial na saúde pública preventiva, ou seja, no nível primário, tendo como objetivo final proporcionar uma boa qualidade de vida ao portador da malformaçäo