SINDROME DE PATAU PDF

The disease can be life-threatening for both the mother and the fetus. The pathogenesis is poorly understood, and may be confused with preeclampsia, even though distinguishing features can be identified. We report a rare case of mirror syndrome with maternal pulmonary edema associated with fetal hydrops due to Patau syndrome. In , Ballantyne was the first to put forward a syndrome characterized by maternal edema in pregnancy associated with fetal and placental hydrops, due to rhesus Rh isoimmunization.

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The disease can be life-threatening for both the mother and the fetus. The pathogenesis is poorly understood, and may be confused with preeclampsia, even though distinguishing features can be identified. We report a rare case of mirror syndrome with maternal pulmonary edema associated with fetal hydrops due to Patau syndrome.

In , Ballantyne was the first to put forward a syndrome characterized by maternal edema in pregnancy associated with fetal and placental hydrops, due to rhesus Rh isoimmunization. As it is extremely uncommon and frequently underdiagnosed, the incidence of mirror syndrome is unknown, with less than cases reported worldwide. Mirror syndrome is associated with both immune and non-immune causes of fetal hydrops, such as Rh isoimmunization, viral infections, fetal or placental malformations, twin-to-twin transfusion syndrome, and fetal arrhythmia.

In the following case report, we present a case of mirror syndrome associated with Patau syndrome. A year-old black primigravida was transferred to our department at 26 weeks of gestation with fetal hydrops. The patient had a history of malaria in childhood and a family history of thromboembolic events. Her blood type was B Rh-positive, with a negative antibody screen.

The pregnancy was followed since the first trimester with normal evolution , and the patient was medicated with folic acid and iodine.

In the routine analyses, the pregnant woman had a negative infectious screening. The patient had a 0. At 22 weeks, the fetal ultrasound was apparently normal, and no echocardiography was performed. Ultrasound examination revealed fetal hydrops. Intravenous infusions of labetalol, dexamethasone and magnesium sulfate were initiated, and the patient was transferred to our department, a tertiary center with differentiated perinatal support.

An analytical study showed a level of hemoglobin of The infectious screening was also negative HIV, hepatitis B, A and C: negative; parvovirus, herpes simplex virus, Epstein Barr virus and cytomegalovirus: immune.

The ultrasound examination confirmed fetal hydrops with subcutaneous and facial edema, pericardial effusion, hydrothorax, severe ascites and placental edema thickness of 7. The amniotic fluid index was decreased deepest pocket of 3 cm , as well as the active fetal movements absence of suckling and swallowing. A detailed fetal morphology scan revealed a hyperechoic intestine. The fetal echocardiography showed cardiomegaly with interventricular communication and apparently dysmorphic and insufficient tricuspid valve.

Subsequently, an amniocentesis was performed to investigate cytogenetic anomalies. A laboratory analysis revealed anemia hemoglobin 9. By this time, the postulated diagnosis was mirror syndrome. After the elucidation of both maternal and fetal prognoses early gestational age versus worsening maternal condition , a medical interruption of the pregnancy was proposed, which was accepted by the patient.

After performing the feticide intracardiac injection of potassium chloride , the delivery protocol was performed with misoprostol, and finalized with a stillbirth. The external habit of the fetus was very macerated, with hydrops, hypotelorism, medium face and nose hypoplasia, long philtrum, small mouth with fine lips and upper lip in cupid's bow, high palate, and postaxial polydactyly of hands and feet.

After delivery, the patient suffered a heavy blood loss due to uterine atony, which reverted with uterine massage and oxytocin infusion; two units of blood transfusion were needed. Four hours after the delivery, the patient began presenting with dyspnea, high blood pressure, sleepiness and prostration, despite the medical treatment with furosemide, labetalol and magnesium sulfate. Thus, with mirror syndrome complicated with acute lung edema and hypertension, the patient was transferred to the intensive care department.

In that unit, the medical treatment was optimized, with progressive recovery. Four days later, the patient returned to our department, with no complaints, weighing 10 Kg less than when she was hospitalized, and medicated with losartan and captopril. Afterwards, the maternal course was favorable: the mirror syndrome resolved on the fourth day, and the patient was discharged seven days after the delivery. The placental histology demonstrated a large placenta for the gestational age due to edema, immaturity and exuberant hematopoiesis.

An autopsy of the fetus confirmed the hydrops, with prominent subcutaneous tissue edema, pleural and ascitic hemoserous effusions and multiple internal anomalies. A cardiac examination confirmed the anomalies previously suspected. Abnormal azygos vein, macroscopic hepatic calcifications and accessory spleen were also detected. All these features can be integrated in Patau syndrome.

Mirror syndrome is extremely rare in the clinical practice, easily underdiagnosed, and associated with many causes. Furthermore, this disease is associated with increased maternal morbidity and mortality. The case reported in the present study was an unusual form of mirror syndrome. Indeed, in the literature, including the largest series of cases published in , there is no case related to Patau syndrome.

The clinical manifestations of this disease are complex, including weight gain and edema, accompanied by high blood pressure, with or without proteinuria, oliguria, tachycardia and tachypnea.

The similarity between the two diseases is also seen in the pathogenesis, as in mirror syndrome there is an anti-angiogenic state similar to what is seen in preeclampsia, which resolves after fetal delivery.

Furthermore, hCG elevation could be used as a clinical marker for placental disturbance. According to literature reports, the gestational age for the onset of this syndrome ranges from 16 to 34 weeks; our case occurred at an early gestational age 26 weeks. Mirror syndrome can be reversible when the underlying factors are identified and modified.

In the meantime, supportive therapy for maternal stability, with diuretics and antihypertensive therapy, is crucial. In conclusion, this case of mirror syndrome associated with Patau syndrome demonstrates how fetal structural malformations can lead to fetal hydrops, being mirrored by the maternal symptoms. Physicians should be attentive for this diagnosis, due to its poor prognosis, with potential fetal mortality and high maternal morbidity. Therefore, timely treatment in the form of delivery of the fetus and placenta is essential to achieve the best outcome.

Further experimental and clinical studies are necessary to clarify the pathophysiology of mirror syndrome, namely how fetal hydrops leads to placental edema.

We would like to acknowledge the Intensive Care Department for their support on the medical treatment and Centro Hospitalar Cova da Beira, which transferred the pregnant patient. Mirror syndrome: a systematic review of fetal associated conditions, maternal presentation and perinatal outcome. Fetal Diagn Ther ;27 04 Doi: A fluid retention syndrome associated with severe iso-immunization to the rhesus factor. Mirror syndrome associated with fetal transient abnormal myelopoiesis in Down syndrome.

Pathol Int ;65 08 Mirror syndrome after fetoscopic laser treatment - a case report. Rev Bras Ginecol Obstet ;38 11 Mirror syndrome in a Chinese hospital: diverse causes and maternal fetal features.

J Matern Fetal Neonatal Med ;26 03 Clinical characteristics of mirror syndrome: a comparison of 10 cases of mirror syndrome with non-mirror syndrome fetal hydrops cases. J Matern Fetal Neonatal Med ;29 16 : Ballantyne Syndrome Mirror Syndrome associated with severe nonimmune fetal hydrops-a case report. Ginekol Pol ;86 09 : Angiogenic and antiangiogenic factors before and after resolution of maternal mirror syndrome.

Ultrasound Obstet Gynecol ;40 03 Mirror syndrome associated with heart failure in a pregnant woman: a case report.

This is an open-access article distributed under the terms of the Creative Commons Attribution License. Services on Demand Journal. Introduction In , Ballantyne was the first to put forward a syndrome characterized by maternal edema in pregnancy associated with fetal and placental hydrops, due to rhesus Rh isoimmunization. Case Description A year-old black primigravida was transferred to our department at 26 weeks of gestation with fetal hydrops.

Discussion Mirror syndrome is extremely rare in the clinical practice, easily underdiagnosed, and associated with many causes. Conclusion In conclusion, this case of mirror syndrome associated with Patau syndrome demonstrates how fetal structural malformations can lead to fetal hydrops, being mirrored by the maternal symptoms.

Acknowledgments We would like to acknowledge the Intensive Care Department for their support on the medical treatment and Centro Hospitalar Cova da Beira, which transferred the pregnant patient.

Received: February 05, ; Accepted: April 10, Conflicts of Interest The authors have no conflicts of interest to disclose. How to cite this article.

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Patau syndrome

Patau syndrome is a syndrome caused by a chromosomal abnormality, in which some or all of the cells of the body contain extra genetic material from chromosome The extra genetic material disrupts normal development, causing multiple and complex organ defects. This can occur either because each cell contains a full extra copy of chromosome 13 a disorder known as trisomy 13 or trisomy D or T13 [1] , or because each cell contains an extra partial copy of the chromosome or because there are two different lines of cells - one healthy with the correct number of chromosomes 13 and one that contains an extra copy of the chromosome- mosaic Patau syndrome. Full trisomy 13 is caused by nondisjunction of chromosomes during meiosis the mosaic form is caused by nondisjunction during mitosis. Like all nondisjunction conditions such as Down syndrome and Edwards syndrome , the risk of this syndrome in the offspring increases with maternal age at pregnancy, with about 31 years being the average. Of those fetuses that do survive to gestation and subsequent birth, common abnormalities may include:. Patau syndrome is the result of trisomy 13, meaning each cell in the body has three copies of chromosome 13 instead of the usual two.

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