Cerebellar Purkinje cell vulnerability to prenatal nicotine exposure in sudden unexplained perinatal death.

The present study was aimed at supplementing our previous investigations on the morphological features of the Purkinje cells during the autonomic nervous system development, particularly in victims of sudden perinatal death (Sudden Intrauterine Unexplained Death Syndrome and Sudden Infant Death Syndrome), given their crucial role in determining connectivity patterns in the brain as well as in the control of autonomic functions. We highlighted in these pathologies, and precisely in 21 cases of sudden foetal death and 26 cases of sudden infant death, a high percentage of developmental defects of the Purkinje cells such as heterotopia, hypoplasia, hyperplasia, mitotic and/or shrunken features and abnormal neuronal nuclear antigen expression. These alterations can be interpreted as a result of a defective maturation and/or migration of Purkinje cells in foetal cerebellum, likely consequence of exposure to injuries, particularly to maternal cigarette smoke. Interestingly, we observed in sudden perinatal deaths an association with similar developmental defects of both the dentate and the inferior olivary nuclei. This suggests the existence of a Purkinje-Olivo-Dentate network playing a fundamental role in triggering a sudden death mechanism in perinatal life in the presence of specific risk factors.

Preoperative prediction of the individualized risk of early fetal death after laser therapy in twin-to-twin transfusion syndrome.

OBJECTIVE: The aim of this study is to evaluate the independent and combined value of gestational age, fetal weight, fetoplacental Doppler, and myocardial performance index for the prediction of individual risk of early (≤7 days) intrauterine fetal death (IUFD) after laser therapy in twin-to-twin transfusion syndrome (TTTS). MATERIAL AND METHODS: A consecutive series of 215 cases of TTTS treated with laser therapy in three centers was prospectively studied. Ultrasound evaluation within 24 h of surgery included estimated fetal weight discordance, umbilical artery, pulsatility index (PI) and diastolic flow evaluation, middle cerebral artery PI and middle cerebral artery peak systolic velocity, ductus venosus PI and atrial flow assessment, and modified myocardial performance index. Logistic regression analysis was used to explore the association of preoperative parameters with IUFD. RESULTS: Intrauterine fetal death occurred in 17 (7.9%) of the recipients and 33 (15.3%) donors (p = 0.016). The only independent predictors of IUFD in recipients was the middle cerebral artery peak systolic velocity >1.5 MoM (OR = 22, p = 0.015), but this event was present in only 3% of recipients. In donors, reverse end diastolic flow in the umbilical artery (OR = 14.748, p = 0.033), estimated fetal weight discordance (OR = 1.054, p = 0.036), and gestational age (OR = 0.757, p = 0.046) were independent predictors. CONCLUSION: In TTTS, preoperative fetal assessment can identify independent risk factors for early post-operative IUFD, particularly in donors.

Imaging practices in the diagnosis and management of gestational trophoblastic disease: an assessment.

This article discusses several of the problems associated with imaging in gestational trophoblastic disease based on critical assessment of the literature. (1) Ultrasound scanning has revolutionized the diagnosis of abnormalities of the first trimester of pregnancy. Fetal death can now be diagnosed as early as 6 weeks of gestation, resulting in uterine evacuation. Histologic and genetic analysis of the conceptus therefore becomes essential as otherwise the diagnosis of hydatidiform mole and other chromosomal anomalies of the fetus may be missed. If such investigation is not performed, human chorionic gonadotropin should be measured after early pregnancy loss to make sure it is negative. (2) The routine use of ultrasound or Doppler flow to follow hydatidiform mole regression is clinically and fiscally counterproductive. (3) To diagnose lung metastases and assess the FIGO risk factor score, chest X-ray is mandated. However, CT scanning may show lung micrometastases indicative of possible chemotherapy resistance. (4) positron emission tomography scanning in trophoblastic neoplasia needs to be validated. Previous studies have been small, with some 30% false positive and false negative findings. The International Society for the Study of Trophoblastic Disease should undertake carefully designed prospective studies to validate imaging practices in the management of trophoblastic disease.

Sirenomelia and caudal malformations in two families.

We report on two families with co-occurrence of sirenomelia and caudal malformations. In the first family, the mother had undergone surgery for a short form of imperforate anus. Her first pregnancy was terminated because of bilateral renal agenesis with oligohydramnios. Her second pregnancy was interrupted because of sirenomelia. The second family was referred to us because of caudal malformation in their two children. The parents' spinal radiographs were normal. The first pregnancy resulted in a girl with imperforate anus, absence of S3-S5 and coccyx, abnormal pelvic floor, and an almost bifid anteriorly located bladder. The second pregnancy resulted in a baby girl with sirenomelia. No diabetes was present during the pregnancies in either of these two families. These families confirm the hypothesis that major genes are responsible for the embryogenesis of the caudal part of the embryo, with variable expression, as has been already described in sirenomelia mouse models (CYP26A1, BMP7/tsg). Molecular studies are underway in these families and in sporadic cases in our laboratory to explore the genetic basis of sirenomelia in humans.

Twins--twice more trouble?

Twin gestations are fascinating and are also high-risk pregnancies. They account for approximately 3% of all pregnancies in the United States. Major obstetrical complications associated with twin pregnancies include hypertensive disorders of pregnancy, gestational diabetes, and preterm delivery. In addition, the death rate for twins and the rate of severe handicap in very low birth weight survivors of twin pregnancies is greater than that for singleton pregnancies. Ultrasound allows for stepwise evaluations at any time during a twin gestation. Current evidence suggests that uncomplicated diamniotic twins with concordant and appropriate growth beyond 24 weeks' gestation should be managed conservatively and the time and mode of delivery should be determined on the basis of obstetrical history and fetal presentations. Perinatal management of the remaining twin pregnancies depends on good clinical judgment, which is improved by the use of ultrasound imaging.

Cornual ectopic pregnancy in a female with initial negative ultrasound.

Cornual pregnancies are a rare form of ectopic pregnancy that can be misdiagnosed as an intrauterine pregnancy via ultrasound. We report a 16-year-old adolescent girl with a cornual ectopic pregnancy and subsequent rupture in the emergency department.

Transfusional fetal complications after single intrauterine death in monochorionic multiple pregnancy are reduced but not prevented by vascular occlusion.

OBJECTIVE: To document co-twin death/pregnancy loss and brain injury after single intrauterine death (sIUD) in monochorionic pregnancies. DESIGN: A total of 135 pregnancies with sIUD were reviewed for co-twin IUD, miscarriage and abnormal antenatal and postnatal neuro-imaging. SETTING: A tertiary referral fetal medicine unit from 2000 to 2007. POPULATION OR SAMPLE: All cases referred with a single fetal death in monochorionic pregnancy, including those where sIUD was spontaneous or occurred after fetoscopic laser treatment, or resulted from selective termination by cord occlusion with bipolar diathermy or intrafetal vascular ablation with interstitial laser. METHODS: Clinical details and ultrasound findings of the study population were retrieved from ultrasound and institutional databases. Delivery and neonatal outcome data were obtained from discharge summaries supplemented by individual chart review. MAIN OUTCOME MEASURES: Co-twin death or pregnancy loss and neurologic injury assessed on antenatal ultrasound and MR-imaging. RESULTS: A total of 81 sIUDs resulted from vascular occlusive feticide (diathermy or interstitial laser), 22 followed placental laser and 32 were spontaneous. In 22 pregnancies (16.8%), the co-twin died in utero and eight pregnancies miscarried (6.1%). Antenatal magnetic resonance (MR) imaging in 76/91 (83.5%) continuing pregnancies detected antenatal brain injury in five (6.6%). Three infants (two not scanned antenatally) had abnormalities detected postnatally. Brain abnormality was detected less often after procedure related (2.6%, 2/77) than spontaneous sIUD (22.2%, 6/27, P = 0.003) and after early compared with late gestation sIUD (3.6%, 4/111 versus 20.0%, 4/20; P = 0.02). CONCLUSIONS: We confirm substantial co-twin loss (22.9%) after monochorionic sIUD, but a low risk of antenatally acquired MRI-identified brain injury, suggesting this risk has been overestimated. Procedures restricting inter-twin transfusion reduce, but do not negate risk of brain injury.

Comparison of needle autopsy with conventional autopsy in neonates.

Tru-cut needle biopsy postmortems were compared with the standard conventional autopsy in neonates. Twenty-five fresh deceased neonates between 33 weeks of gestation to below 28 days of life were examined by both the techniques. Tissue collection by needle biopsy varied from 92% for liver to 20% for spleen while lung, brain, and kidney gave intermediate results. The cause of death could be determined in 17 cases (68%) by needle biopsy and in 24 cases (96%) by conventional postmortem. In 14 of the 17 cases (56%) cause of death could be determined by biopsy which was in full concordance with the findings of the full autopsy, whereas 3 (12%) cases showed only partial concordance and the diagnosis were discrepant in 32% cases. Needle autopsy missed diagnosis of various congenital malformations, which can be discerned only after meticulous gross examination. Needle autopsy is of value when permission for a complete autopsy cannot be obtained.

Intracranial hemorrhage and hydrops in the fetus of a mother with thrombocytosis: implications for possible pathogenetic factors and therapy.

We report a case of prenatally diagnosed intracranial hemorrhage and hydrops in the fetus of a mother with a past history of surgical and medical treatment for gastric lymphoma and having high platelet counts thereafter. To the best of our knowledge, such a complication of maternal thrombocythemia has not been described in the literature. In our opinion, the possible pathophysiology of the disease is based on placental insufficiency due to infarctions and related fetal platelet dysfunction, leading to intracranial hemorrhage with subsequent hydrops fetalis. The trigger in this event appears to be trauma to the maternal abdomen. Certain measures for high-risk mothers such as avoidance of trauma to the abdomen and platelet-lowering medications like interferon-alpha may be useful for preventing such fetal complications.

[Abnormal second trimester screening for fetal chromosomal abnormalities as a predictor of adverse pregnancy outcome]. / Nieprawidlowe stezenia markerów biochemicznych w II trymestrze a powiklania w dalszym przebiegu ciazy.

UNLABELLED: Second-trimester maternal serum markers (triple test) is common used to estimate of the fetal risk of genetic abnormalities and open neural tube defects. Positive results of the triple test concomitant with the normal fetus karyotype pattern can also predict the adverse pregnancy outcome. Many authors have been indicated such false positive results of the triple test in the cases of the uterine myomas, PIH, IUGR, and IUD. OBJECTIVE: The purpose of this study was to determine the association between abnormal second trimester Down syndrome screening markers and adverse pregnancy outcome. MATERIAL AND METHODS: A total of 775 pregnant women underwent maternal serum screening. Pregnancy complications were studied in the groups of pregnancies with structurally and chromosomally normal fetuses--with: elevated AFP > 1,89MoM, elevated beta-hCG > 1,69MoM or low beta-hCG < 0,48MoM. RESULTS: Increased maternal serum AFP > 1,89MoM were found to be significantly associated with IUGR, PIH and placental pathology. Increased beta-hCG > 1,69MoM were significantly associated with PIH and IUGR. Finally decreased beta-hCG < 0,48MoM were found to be significantly associated with IUGR, PIH and IUD. CONCLUSION: Triple test can be used not only for the detection of fetal chromosomal and NTD abnormalities but also for the detection of high-risk pregnancies.

Mortalidad fetal 2006 en la Maternidad Sardá / Fetal mortality 2006 in the Maternidad Sardá

Objetivos: 1) describir las tasas de mortalidad fetal del año 2006 incluyendo y excluyendo los fetos malformados; 2) describir sus posibles causas y 3) analizar la oportunidad diagnóstica y el manejo de la terminación del parto. Material y métodos: diseño observacional, retrospectivo. Fuente de datos: las historias clínicas de las embarazadas portadoras de un feto muerto nacidos en el Hospital Materno Infantil Ramón Sardá durante el año 2006. Resultados: durante el año 2006 se registraron 7282 nacimientos que incluyen 7220 recién nacidos vivos y 62 muertes fetales. El 35,5 por ciento de los fetos muertos eran malformados que incluyen, según la edad gestacional, 45,8 por ciento entre 20 a 27 semanas y 28,9 por ciento en >= 28 semanas. En los embarazos de termino las causas de muerte más frecuentes fueron los accidentes del cordón (44 por ciento). Excluyendo los fetos malformados la causa más frecuente entre 20 y 27 semanas fueron las infecciones. Sin embargo, en la franja de embarazos de 28 semanas o más, donde las malformaciones representan el 28,9 por ciento de los mismos, no se encontró la causa en el 37 por ciento de los casos. Conclusiones: se observaron altas cifras de pacientes nulíparas y una elevada contribución de las malformaciones y las infecciones.

Litopedion: reporte de un caso / Lithopedhyon: report of one case

El Litopedion es una rara consecuencia de embarazo ectópico abdominal, donde, por pasar asintomático y escaparse al diagnóstico médico, el feto y/o sus membranas entran en un proceso de petrificación. El diagnóstico muchas veces se realiza de manera incidental, durante una exploración quirúrgica abdominal, un examen de rayos x abdominal o en la autopsia. Ocurre en 0.0045% de todas las gestaciones. Se informa un caso de Litopedion de término, con medidas óseas en percentiles altos, retenido en el abdomen durante 13 años, en una paciente de 31 años de edad. Es el segundo caso publicado en la Revista Médica Hondureña, el primero lo hizo el Dr. Elías Faraj en el año 1958...

Interrupção da gestação após o diagnóstico de malformação fetal letal: aspectos emocionais / Termination of pregnancy after the diagnosis of lethal fetal malformation: emotional aspects

OBJETIVOS: descrever os processos emocionais vivenciados com a interrupção da gestação após o diagnóstico de malformação fetal letal. MÉTODOS: foram entrevistadas 35 gestantes cujo feto era portador de malformação letal e que realizaram a interrupção da gestação após solicitação de autorização judicial. A malformação fetal mais freqüente foi a anencefalia (71,5 por cento). As pacientes foram submetidas à entrevista psicológica aberta logo após o diagnóstico da malformação fetal para que pudessem expressar os sentimentos desencadeados e para promover reflexão sobre a solicitação da interrupção da gravidez. O tempo médio de espera pelo deferimento do pedido judicial foi de 16,6 dias. As que solicitaram e tiveram o aborto realizado foram convidadas a retornar para a segunda entrevista psicológica 30 a 60 dias após o procedimento, quando foi aplicado questionário semidirigido para identificar os aspectos emocionais vivenciados e descrever os sentimentos despertados. RESULTADOS: trinta e cinco pacientes foram entrevistadas após o aborto. Quanto aos sentimentos vivenciados na decisão pela interrupção, 60 por cento relataram como negativos, 51,4 por cento afirmaram que não tiveram dúvidas quanto à decisão tomada e 65,7 por cento informaram que a própria opinião foi a que mais pesou na decisão. A maioria das mulheres (89 por cento) afirmou apresentar lembranças do que viveram com certa freqüência, 91 por cento afirmou que adotariam a mesma atitude em outra situação semelhante e 60 por cento diriam para interromper a gestação caso alguém perguntasse seu conselho, numa mesma situação. CONCLUSÕES: as angústias vivenciadas demonstram que o processo de reflexão é de fundamental importância para decisão consciente e posterior satisfação com a atitude tomada. O acompanhamento psicológico permite revisão dos valores morais e culturais para auxiliar a tomada de decisões visando minimizar o sofrimento vivido.

Improving outcomes in fetuses and neonates with congenital displacement (Ebstein's malformation) or dysplasia of the tricuspid valve.

From 1984 to 2004, 66 patients were diagnosed with Ebstein's malformation (n = 61) or congenital tricuspid valve (TV) dysplasia (n = 5) in utero or during the first month of life. Of these, 33 were diagnosed by fetal echocardiography at a median gestational age of 22 weeks, and 33 were diagnosed postnatally at a median age of 1 day (range 1 to 27). In 8 of the 33 prenatally diagnosed patients (24%), the pregnancies were terminated; in 9 (27%), the fetuses died in utero, and in 16 (49%), the fetuses survived to birth. Seven prenatally diagnosed patients survived beyond the neonatal period (21% of 33). Of the 49 neonates, 35 (71%) survived to hospital discharge and beyond 1 month of age. Independent predictors of death by multivariable logistic regression analysis included right atrial area index >1, the absence of anterograde flow across the pulmonary valve, and diagnosis before 1997. Although outcomes in fetuses and neonates with congenital anomalies of the TV have improved in more recent experience, survival in patients at the severe end of the spectrum remains poor. To improve outcomes in this group of high-risk patients, novel approaches to management may be indicated.

Postmortem MR imaging of the fetus: an adjunct or a replacement for conventional autopsy?

Fetal and perinatal autopsy provides essential diagnostic information not only for parents but also for medical audit and clinical trials. The autopsy rate is decreasing throughout the world for numerous reasons. Medical imaging has always been part of the autopsy process, but in the last decade there has been increased interest in imaging as additional to or a replacement for autopsy. This is especially so with the wider availability of magnetic resonance (MR) scanners that are able to provide detailed anatomy of all body structures as well as having the potential to provide information about histopathological patterns of injury. Postmortem MR imaging (MRI) provides similar information to autopsy for gross pathology of most organ systems. It often provides more information in cases of central nervous system abnormalities, but is less accurate for cardiac abnormalities. Targeted, image-guided biopsy may allow histological diagnosis following postmortem MRI.