Gemelo acardius acormus: caso clínico y revisión / Acardius acormus twin: case report and review

Gemelo acardius acormus es una condición propia de las gestaciones gemelares monocoriales. La malformación primaria es la ausencia del corazón en uno de los fetos o un corazón totalmente rudimentario y sin función alguna, que es perfundido por el gemelo sano. Es una condición rara que ocurre en el 1% de los embarazos monocigóticos y de estos solo el 5% corresponde a la variedad acormus. En relación al evento primario se describen dos hipótesis, la vasculatura placentaria anormal, con anastomosis arterio-arterial y embriogénesis cardíaca anormal primaria. El diagnóstico prenatal debe sospecharse cuando se detecta un feto severamente malformado en el contexto de un embarazo gemelar monocorial. La presencia de motilidad cardiaca no excluye el diagnóstico. El diagnóstico actual es posible durante el primer trimestre del embarazo mediante la detección de la inversión de flujo vascular hacia el feto acárdico. En su evolución se pueden dar varias posibilidades. El tamaño del gemelo acárdico, su curva de crecimiento y el estatus cardiovascular del gemelo bomba son los factores más importantes para predecir el resultado perinatal y orientar su manejo. Las opciones terapéuticas incluyen manejo expectante o tratamiento invasivo. (AU)

Postmortem ultrasonography of the macerated fetus complements autopsy following in utero fetal demise.

Postmortem evaluation following an in utero fetal demise is essential for determining cause of death and counseling regarding future pregnancies. Severe maceration and fetal size along with patient desires may limit the physician's ability to perform a complete autopsy. In the cases presented, we demonstrate the utility of postmortem ultrasonography as an adjunct to traditional autopsy following fetal demise.

Comparison of radiographic femur measurements in stillbirths and neonatal deaths to ultrasound measurements in ongoing pregnancies.

Identifying growth abnormalities in stillbirths is clinically useful but complicated by maceration. This is an observational study of consecutive postmortem examinations in which femur lengths and gestational age at delivery were collected, along with associated congenital anomalies and extent of fetal maceration. Between 2005 and 2012, 1530 consecutive postmortem examinations were performed and the information recorded. Fragmented fetuses (417), live-born fetuses that survived for more than 24 hours (134), fetuses with any signs of maceration (419), fetuses with known anomalies (98), and records with missing data (249) were excluded. The analyses focused on the remaining 265 nonmacerated stillborn fetuses and infants that survived for less than 24 hours after birth. The relationship between gestational age at delivery and femur length was computed, and a quadratic equation fit the data well between 12 and 40 weeks' gestation (R  =  0.944). Gestational age-specific reference ranges for radiographic femur measurements in stillbirths are equivalent to those for ultrasound-determined measurements in ongoing pregnancies. These reference data may be useful in identifying growth abnormalities in nonmacerated stillborn fetuses.

First-trimester sonographic prediction of obstetric and neonatal outcomes in monochorionic diamniotic twin pregnancies.

OBJECTIVES: The purpose of this study was to investigate whether discordant nuchal translucency and crown-rump length measurements in monochorionic diamniotic twins are predictive of adverse obstetric and neonatal outcomes. METHODS: We conducted a multicenter retrospective cohort study including all monochorionic diamniotic twin pregnancies with two live fetuses at the 11-week to 13-week 6-day sonographic examination who had serial follow-up sonography until delivery. Isolated nuchal translucency, crown-rump length, and combined discordances were correlated with adverse obstetric outcomes, individually and in composite, including the occurrence of 1 or more of the following in either fetus: intrauterine growth restriction (IUGR), twin-twin transfusion syndrome (TTTS), intrauterine fetal death (IUFD), growth discordance (≥ 20%), and preterm birth before 28 weeks' gestation. Correlations with adverse composite neonatal outcomes were also studied. A receiver operating characteristic curve analysis and a logistic regression analysis with a generalized estimating equation were conducted. RESULTS: Fifty-four of the 177 pregnancies included (31%) had an adverse composite obstetric outcome, with TTTS in 19 (11%), IUGR in 21 (12%), discordant growth in 14 (8%), IUFD in 14 (8%), and preterm birth before 28 weeks in 10 (6%). Of the 254 neonates included in the study, 69 (27%) were complicated by adverse composite neonatal outcomes, with respiratory distress syndrome being the most common (n = 59 [23%]). The areas under the curve for the combined discordances to predict composite obstetric and neonatal outcomes were 0.62 (95% confidence interval, 0.52-0.72), and 0.54 (95% confidence interval, 0.46-0.61), respectively. CONCLUSIONS: In our population, nuchal translucency, crown-rump length, and combined discordances in monochorionic diamniotic twin pregnancies were not predictive of adverse composite obstetric and neonatal outcomes.

Fetal age estimation using MSCT scans of deciduous tooth germs.

Evaluation of fetal age is an essential element in many fields such as anthropology, odontology, paleopathology, and forensic sciences. This study examines the correlation between fetal age, femoral diaphyseal length (considered as the gold standard), and deciduous tooth germs of fetuses aged 22 to 40 weeks amenorrhea (WA) based on computed tomography (MSCT) reconstructions. Qualitative and quantitative studies of femoral and deciduous tooth germ lengths were performed on 81 fetuses (39 females and 42 males). R software was used for statistical analyses. Intra-observer and inter-observer variabilities and the interclass correlation coefficient (ICC) were calculated. Correlation coefficients (R (2)) and linear regression equations were calculated. Intra- and inter-observer variabilities were very satisfactory (intra-observer ICC ≥ 0.96, inter-observer ICC ≥ 0.95). Femoral length was significantly correlated with age (R (2) = 0.9). The correlation coefficient between age and height, width, and dental volume was R (2) ≥ 0.73. Tooth germs were good indicators of fetal age. Our method appears to be reliable and reproducible, and the results of this study agreed with those of the literature. The dental formula provided a precise estimation of fetal age between 25 and 32 WA. Tooth germs were reliable indicators of fetal age, and multislice computed tomography was shown to be an innovative and reliable technology for this purpose.

[Contribution of volume ultrasound in the evaluation and prenatal care of fetal cardiovascular anomalies]. / Apport de l'échographie volumique dans l'évaluation et la prise en charge prénatale anténatale des anomalies cardiovasculaires fœtales.

OBJECTIVES: To highlight the value of 3D ultrasound in the prenatal assessment of fetal cardiovascular abnormalities. PATIENTS AND METHODS: A retrospective offline analysis of volume datasets of fetuses diagnosed with cardiovascular anomalies by 2D ultrasound was performed. RESULTS: Thirty-four fetuses with 38 cardiac malformations were evaluated. Mean gestational age at diagnosis was 26 weeks. Isolated cardiovascular malformations were detected in 23 fetuses. Extracardiac abnormalities were identified in eight fetuses. Ten terminations of pregnancy were performed. CONCLUSION: Offline analysis of cardiovascular anomalies conferred significant diagnostic advantages over 2D ultrasound. 3D ultrasound is a valuable tool for the prenatal diagnosis and the management of congenital heart diseases.

Placental mesenchymal dysplasia complicated by hydrops fetalis and fetal death: a case report.

Placental mesenchymal dysplasia is a rare condition of the placenta and its true incidence and underlying cause has remained unknown till now due to its rarity. Its accurate diagnosis is essential, because placental mesenchymal dysplasia is usually compatible with a good fetal and maternal outcome. A precise ultrasonographic evaluation can contribute to the identification of characteristic features, particularly to discriminate it from partial hydatidiform mole, its main differential diagnosis. We report an early third-trimester pathologically- diagnosed case of placental mesenchymal dysplasia. It was complicated by fetal hydrops and death. 

Embryonic growth discordance and early fetal loss: the STORK multiple pregnancy cohort and systematic review.

STUDY QUESTION: Is there an association between discordance in embryonic growth and fetal loss at the time of the 11-14-week scan in twin pregnancies? SUMMARY ANSWER: Regardless of the chorionicity, crown rump length (CRL) discordance at 7(+0)-9(+6) weeks is predictive of subsequent single fetal demise in the first trimester. WHAT IS KNOWN ALREADY: Previous small studies have reported a variable association between discordance in embryonic growth and subsequent fetal loss. STUDY DESIGN, SIZE, DURATION: Retrospective study of all twin pregnancies of known chorionicity from a large regional cohort over a 10-year period. A total of 1356 twin pregnancies (288 monochorionic and 1068 dichorionic) were included in the study. PARTICIPANTS, SETTING, METHODS: Women presenting to the early pregnancy unit were included in the study. Logistic regression, ROC curve and Kaplan-Meier analyses were performed to evaluate the association between CRL discordance at 7(+0)-9(+6) weeks and spontaneous single fetal loss diagnosed at the 11-14-week scan. A systematic review was also performed using MEDLINE, EMBASE, Cinahl and the Cochrane Library in order to explore the relationship between early growth discordance and single fetal loss in twin pregnancies. MAIN RESULTS AND THE ROLE OF CHANCE: There were 111 (8.2%) single fetal losses diagnosed at 11-14 weeks in this cohort. At multivariate analysis, CRL discordance percentile [odds ratio (OR) 1.20; 95% confidence interval (CI), 1.12-1.63, P < 0.0001] and CRL <5th centile of at least one twin (OR, 2.21; 95% CI 1.23-4.24, P = 0.023), but not chorionicity (P = 0.486) or maternal age (P = 0.283) was independently associated with the loss of one fetus at the 11-14-week scan. The predictive accuracy of CRL discordance for single fetal loss was high (AUC = 0.93; 95% CI = 0.91-0.94). A significant association was found between the increase in the degree of embryonic discordance and the likelihood of early fetal loss (P < 0.0001). LIMITATIONS, REASONS FOR CAUTION: Only a high-risk population was analysed. Therefore, the patients studied were not a representative sample from the population of women pregnant with twins. WIDER IMPLICATION OF THE FINDINGS: Twin pregnancies, in particular those resulting from assisted conception, are scanned frequently, particularly during the early stages of pregnancy. The findings of this study are likely to prove important in counselling parents about the short-term outcome of the pregnancy when an embryonic discordance is present. STUDY FUNDING/COMPETING INTEREST(S): No external funding was sought for this study. None of the authors has any conflicts of interest to declare.

Trivalent inactivated influenza vaccine and spontaneous abortion.

OBJECTIVE: To estimate the association between spontaneous abortion and influenza vaccine receipt with a case-control study utilizing data from six health care organizations in the Vaccine Safety Datalink. METHODS: Women aged 18-44 years with spontaneous abortion during the autumn of 2005 or 2006 were identified using International Classification of Diseases, 9th Revision, Clinical Modification codes. Cases of spontaneous abortion at 5-16 weeks of gestation were confirmed by medical record review; date of fetal demise was based on ultrasound information when available. Control group individuals with a live birth were individually matched to case group individuals by health care organization and date of last menstrual period (LMP). The primary exposure of interest was influenza vaccination during the 28 days preceding the date of spontaneous abortion of the matched pair. Conditional logistic regression models adjusted for maternal age, health care utilization, maternal diabetes, and parity. RESULTS: Our final analysis included 243 women with spontaneous abortion and 243 matched control group women; 82% of women with spontaneous abortion had ultrasound confirmation of fetal demise. Using clinical diagnosis and ultrasound data, the mean gestational age at fetal demise was 7.8 weeks. Mean ages at LMP of case group women and control group women were 31.7 and 29.3 years, respectively (P<.001). Sixteen women with spontaneous abortion (7%) and 15 (6%) matched control group women received influenza vaccine within the 28-day exposure window. There was no association between spontaneous abortion and influenza vaccination in the 28-day exposure window (adjusted matched odds ratio 1.23, 95% confidence interval 0.53-2.89; P=.63). CONCLUSION: There was no statistically significant increase in the risk of pregnancy loss in the 4 weeks after seasonal inactivated influenza vaccination. LEVEL OF EVIDENCE: II.

Systematic review of sonographic findings of placental mesenchymal dysplasia and subsequent pregnancy outcome.

OBJECTIVE: To describe the sonographic features and pregnancy outcomes of placental mesenchymal dysplasia (PMD), an entity often misdiagnosed as molar pregnancy. METHODS: We reviewed PMD cases from our institution and performed a systematic review of the existing literature. Inclusion criteria for the review were diagnosis of PMD as defined by placental pathology, description of placental morphology on antenatal ultrasound and reporting of pregnancy outcomes. RESULTS: We found three cases of PMD at our institution. Patient 1 had elevated human chorionic gonadotropin (hCG) and an enlarged, hydropic placenta at 13 weeks, suggestive of a molar pregnancy. Patient 2 also had elevated hCG with large, vascular placental lakes on ultrasound suggesting placenta accreta or molar pregnancy. Case 3 involved placentomegaly and fetal anomalies suggestive of Beckwith-Wiedemann syndrome. From the literature review, 61 cases met the inclusion criteria. The most common sonographic features included enlarged (50%) and cystic (80%) placenta with dilated chorionic vessels. Biochemical aneuploidy screening abnormalities were relatively common as were fetal anomalies, Beckwith-Wiedemann syndrome and other genetic abnormalities. Pregnancy complications included intrauterine growth restriction (IUGR; 33%), intrauterine fetal death (IUFD; 13%), and preterm labor (33%). Pregnancies without fetal anomalies, IUGR, IUFD or preterm labor had normal neonatal outcomes despite PMD (9%). CONCLUSIONS: The differential diagnosis of PMD includes molar pregnancy and other placental vascular anomalies. PMD is associated with adverse pregnancy outcome, so heightened surveillance with genetic evaluation, serial growth scans and third-trimester assessment of wellbeing should be considered. PMD must be differentiated from gestational trophoblastic disease because management and outcomes differ.

Monozygotic twins with trisomy 18 of paternal origin: prenatal diagnosis and molecular cytogenetic characterization in a pregnancy with one structurally abnormal living fetus and one intrauterine fetal demise.

OBJECTIVE: To present prenatal diagnosis and molecular cytogenetic characterization of trisomy 18 in a monozygotic twin pregnancy, with one structurally abnormal living fetus and one intrauterine fetal demise. CASE REPORT: A 38-year-old woman was referred for amniocentesis at 16 weeks of gestation because of advanced maternal age. Prenatal ultrasound revealed a monozygotic twin pregnancy, with one structurally abnormal living fetus, and one fetal demise. The body structure details of the dead fetus could not be identified, whereas holoprosencephaly and omphalocele were identified in the living fetus on prenatal ultrasound. Quantitative fluorescent polymerase chain reaction assays using polymorphic DNA markers specific for chromosome 21 and chromosome 18, were applied to the uncultured amniocytes in the amniotic cavity of the living fetus and the cultured amniocytes in the amniotic cavity of the fetus with intrauterine fetal demise. The specimen showed a dosage ratio of 2:1 (paternal:maternal) for chromosome 18-specific markers in both twins. The result was consistent with monozygosity and trisomy 18, and the trisomy 18 was possibly caused by a paternal second meiotic division non-disjunction error or a postzygotic mitotic error. Conventional cytogenetic analysis revealed a karyotype of 47,XY,+18 in both twins. The pregnancy was terminated at 19 weeks of gestation, and a 2g small-for-date macerated twin A and a 166g malformed twin B were delivered. Twin A manifested cebocephaly and omphalocele, and twin B manifested premaxillary agenesis and omphalocele. CONCLUSION: The present case provides evidence that fetal wastage may occur in one of the co-twins in monozygotic twins associated with trisomy 18, and this may in part explain the very rare occurrence of living monozygotic twins with trisomy 18.

Prospective risk of intrauterine fetal death in monoamniotic twin pregnancies.

This study was conducted to review the overall short-term outcome of monoamniotic twins in Japan and to determine the prospective risk of fetal death so as to adequately counsel parents with monoamniotic twins. Study subjects were 101 women with monoamniotic twins who were registered with the Japan Society of Obstetrics and Gynecology Successive Pregnancy Birth Registry System and who had given birth at ≥22 weeks of gestation during 2002-2009. The gestational week at delivery (mean±SD) was 31.8±3.7. Fourteen women experienced intrauterine fetal death (IUFD). Short-term outcomes of co-twins born to the 14 women included 8 IUFDs, one early neonatal death within 7 days of life (END), and 5 survivors. Four other women experienced 5 ENDs. Thus, 13.9% (28/202) of infants died perinatally (22 IUFDs and 6 ENDs), 13.9% (14/101) of women experienced IUFD, and 82.2% (83/101) of women experienced neither IUFD nor END. Structural anomalies and twin-to-twin transfusion syndrome explained 17.9% (five infants) and 10.7% (three infants) of the 28 perinatal deaths, respectively. The prospective risk of IUFD was 13.9% (14/101) for women who reached gestational week 22(-0/7), gradually decreasing thereafter but remaining at between 4.5% and 8.0% between gestational week 30(-0/7) and 36(-0/7).

Virtual autopsy by computed tomographic angiography of the fetal heart: a feasibility study.

OBJECTIVE: To determine the feasibility of postmortem computed tomographic (pm-CT) angiography for fetal heart evaluation. METHODS: Following termination of pregnancy (TOP) or intrauterine fetal death (IUFD) beyond 18 weeks' gestation, 33 fetuses were examined by pm-CT; in eight contrast medium was injected through the umbilical cord and in 25 contrast medium was injected directly into the heart. Logistic regression analysis was used to investigate the effect on the ability to visualize cardiac structures on pm-CT angiography of gestational age at TOP or delivery following IUFD, the time delay between fetal death and examination, the technique used for contrast-medium injection, the presence of cardiac abnormalities and whether or not there was IUFD. The diagnostic accuracy of pm-CT angiography for the evaluation of fetal cardiac structures was also evaluated. RESULTS: Cardiac anatomy including heart situs, the four-chamber view and great vessels could be visualized on pm-CT angiography in 29 out of 33 fetuses (87.9%). Logistic regression analysis showed that the ability to visualize cardiac structures on pm-CT angiography was positively correlated only with contrast medium injected directly into the heart. Twenty-five out of the 33 fetuses underwent conventional autopsy. There were five cases with suspected major cardiac abnormality at prenatal ultrasound and one with a minor cardiac abnormality. In one of these cases, severe leakage into the pleural cavity did not allow for visualization of any heart structure on pm-CT angiography and in another invasive autopsy was declined. In two of the remaining four cases, the findings on pm-CT angiography and invasive autopsy were in agreement, while in two a ventricular septal defect was found on invasive autopsy but not on pm-CT. None of the 27 cases with normal hearts was falsely classified as abnormal using pm-CT angiography. CONCLUSION: Pm-CT angiography by direct injection into the heart seems to be a feasible method for its evaluation. The extent to which such a technique could be used for the evaluation of congenital heart disease as an alternative to classical postmortem autopsy remains to be determined.

Decreased echogenicity of the embryo is correlated with absence of cardiac activity.

PURPOSE: The purpose of this study was to investigate whether the sonographic echogenicity of embryos is associated with cardiac activity in utero. METHODS: The present study reviewed a total of 164 embryos having a gestational age between 6 and 8 weeks. These embryos were examined by transvaginal ultrasonography and a comparison of their echogenicity was made with respect to those of the placenta and the myometrium. Grade II embryos were less echogenic than the placenta or had similar echogenicity with the myometrium, whereas grade I embryos shared the same echogenicity as the placenta. In contrast, grade III embryos were less echogenic than the myometrium. RESULTS: Most of the embryos with cardiac activity were detected to have grade II echogenicity (78/130, 60.0%), whereas the remaining embryos had grade I echogenicity (52/130, 40.0%). In contrast, most of the embryos without cardiac activity had grade III echogenicity (20/34, 58.8%), whereas the remaining embryos had either grade II (8/34, 23.5%) or grade I (6/34, 17.7%) echogenicity. CONCLUSIONS: Decreased echogenicity of embryos on grayscale ultrasound in the early first trimester is correlated with an absence of cardiac activity.