1/161. Antenatal diagnosis of Bart's hydrops fetalis [correction of homozygous alpha thalassemia]. A case report. OBJECTIVE: Diagnosis of the Bart's hydrops fetalis [corrected]. METHOD: Bart's hydrops fetalis [corrected] was discovered by chance in the fetus of a female Chinese patient. Major intrauterine growth retardation, oligohydramnios, an immobile fetus, and cardiomegaly were the principal echographic signs. cordocentesis showed fetal anemia, and electrophoresis of fetal hemoglobin revealed the presence of Bart's hemoglobin. RESULT: As there is no known effective treatment, termination of pregnancy was proposed to the patient. CONCLUSIONS: Bart's hydrops fetallis [corrected] is a lethal condition. Early echographic signs (cardiothoracic index >0.50, placental thickening) can be screened during weeks 17-18 or even during weeks 13-14 of gestation. These signs would permit a reduction of invasive examinations in couples at risk. ( info) |
2/161. Lymphoproliferative disorder of fetal origin presenting as oligohydramnios. lymphoma involving the placenta or fetus remains a very rare event. All cases reported to date have shown the lymphoma cells to be of maternal origin in that the tumor cells have preferentially involved the intervillous spaces with sparing of the villi and fetal circulation. We report a novel case of a monoclonal primary placental Epstein-Barr virus (EBV)-associated B-cell lymphoma of fetal origin. The placenta of a 20-week stillborn fetus born to a 19-year-old gravida 1 para 0 woman, presenting with oligohydramnios, showed a large cell infiltrate confined within villi and sparing the intervillous spaces, indicative of preferential involvement of the fetal circulation. Necropsy did not show any other site of involvement by malignant lymphoma or other abnormalities. Immunophenotypic studies showed the tumor cells to be of B-cell phenotype with a relatively high proliferation rate. EBV EBER1 rna was identified in more than 95% of tumor cells, and polymerase chain reaction studies showed EBV EBNA1 strain type A and wildtype EBV LMP1. Analysis of the immunoglobulin heavy chain by polymerase chain reaction showed a monoclonal B-cell population. in situ hybridization studies using a commercially available probe directed at repeated sequences on the human y chromosome showed a single intense signal within trophoblastic epithelium and lymphoma cells, indicative of male origin. The mother remains in good health 11 months after delivery. ( info) |
3/161. Sirenomelia. Pathological features, antenatal ultrasonographic clues, and a review of current embryogenic theories. We aimed to discuss the prenatal diagnosis and pathological features of sirenomelia, and to review current embryogenic theories. We observed two sirenomelic fetuses that were at the 19th and 16th gestational week respectively. In the former, transvaginal ultrasound revealed severe oligohydramnios and internal abortion, whereas bilateral renal agenesis, absence of a normally tapered lumbosacral spine, and a single, dysmorphic lower limb were detected in the latter. In both cases, x-rays and autoptic examination allowed categorization on the basis of the skeletal deformity. Subtotal sacrococcygeal agenesis was present in both cases. Agenesis of the urinary apparatus and external genitalia and anorectal atresia were also found. classification of sirenomelia separately from caudal regression syndrome is still debated. Recent advances in the understanding of axial mesoderm patterning during early embryonic development suggest that sirenomelia represents the most severe end of the caudal regression spectrum. Third-trimester ultrasonographic diagnosis is usually impaired by severe oligohydramnios related to bilateral renal agenesis, whereas during the early second trimester the amount of amniotic fluid may be sufficient to allow diagnosis. Early antenatal sonographic diagnosis is important in view of the dismal prognosis, and allows for earlier, less traumatic termination of pregnancy. ( info) |
4/161. Rapid development of hydrops fetalis in the donor twin following death of the recipient twin in twin-twin transfusion syndrome. Intrauterine death of one fetus in monochorionic twinning is associated with high rates of perinatal morbidity and mortality in the surviving fetus. Subsequent development of hydrops fetalis in the donor twin after fetal demise of the recipient twin has been described in only two case reports and pathophysiology remains unclear. We report on a monochorionic-diamniotic twin pregnancy complicated by severe twin-twin transfusion syndrome. Ultrasound examination at 20 weeks of gestation showed discrepant twins with oligohydramnios in the smaller twins' sac and polyhydramnios in that of the larger twin. Repeated amniocenteses permitted prolongation of the pregnancy. However, the recipient twin developed deteriorating hydrops fetalis and died at 28 weeks of gestation. After this event, subsequent development of hydrops fetalis in the surviving donor twin could be observed, as well as an increase of amniotic fluid. An elective cesarean section was performed at 29 weeks of gestation. Initial hypoxemia could be effectively treated by high frequency oscillatory ventilation, surfactant therapy and inotropic support. The infant was discharged in good condition at the age of 2 months. Although rare, antenatal demise of the recipient twin in a monochorionic pregnancy can be associated with the subsequent development of hydrops fetalis in the surviving donor twin. We speculate that this phenomenon is due to ischemia-reperfusion injury of the previously poorly perfused twin. ( info) |
5/161. Familial perinatal hemochromatosis: a disease that causes recurrent non-immune hydrops. Perinatal hemochromatosis is a rare disorder with an enormous iron overload in the parenchymal organs, especially the liver, pancreas, heart and endocrine glands. elements of the reticuloendothelial system are relatively spared. The clinical course is rapidly progressive and the disease is invariably fatal. Several siblings are described in the literature. Herein, we describe one pair of full siblings affected by the disease, wherein the clinical presentation was hydrops. We suggest that hemochromatosis should be considered in the differential diagnosis of hydrops fetalis. ( info) |
| We report a case of nonmosaic trisomy 9 presenting at 21 weeks of gestation with polycystic, echogenic horseshoe kidney, collapsed bladder, absent amniotic fluid, and intrauterine growth restriction. color Doppler imaging demonstrated no blood flow signals from renal vessels. fetal blood sampling confirmed a 47,XX, 9 karyotype, with no evidence of mosaicism, and increased serum beta2-microglobulin levels of 10.7 mg/l, consistent with severe renal failure. A repeat scan at 23 weeks also revealed a dysmorphic face, bilateral microphthalmia, and a cerebellar vermian defect. Follow-up examinations showed progressive growth restriction leading to fetal death at 33 weeks of gestation. This report demonstrates that fetuses with nonmosaic trisomy 9 may present with severe renal abnormalities and confirms that cases seen in the second and third trimesters usually have a dismal outcome. ( info) |
7/161. Acute oligohydramnios and deteriorating fetal biophysical profile associated with severe preeclampsia. Acute changes in fetal biophysical profile (BPP) status usually include rapid cessation of all nonessential acute biophysical activities, yet not necessarily an acute decrease in the amniotic fluid volume, or oligohydramnios. A 36-year-old para 3 with early third-trimester severe preeclampsia, mild placental abruption, and fetal growth restriction, with a reassuring BPP of 8/8, was managed expectantly with intravenous magnesium sulfate, hydralazine, and intramuscular corticosteroids. Within 20 h of admission a marked change in the BPP was noted, with a score of 0/8. amniotic fluid index (AFI), which on admission had been 20.1, progressively became 0, despite a stable normovolemic maternal status. At immediate cesarean, a mildly acidotic and hypoxic fetus was delivered which subsequently did well. This case supports the concept that acute oligohydramnios may develop rapidly in the presence of acute fetal hypoxemia. ( info) |
| We report a case of previously healthy woman who suffered cerebral embolism after delivery. echocardiography with contrast medium confirmed the patent foramen ovale (PFO). PFO may be a mechanism of paradoxical embolism causing a transient ischemic attack or stroke. ( info) |
9/161. Bilateral renal agenesis and fetal ascites in association with partial trisomy 13 and partial trisomy 16 due to a 3:1 segregation of maternal reciprocal translocation t(13;16)(q12.3; p13.2). A female fetus with bilateral renal agenesis and fetal ascites was found to have partial trisomy 13 (pter-q12.3) and partial trisomy 16 (p13.2-pter), 47,XX, der(13)t(13;16)(q12.3; p13.2)mat. The chromosomal aberration was due to a 3:1 segregation with tertiary trisomy transmitted from a maternal reciprocal translocation 13;16. Prenatal ultrasound of a 29-year-old, gravida 2, para 0 woman at 22 gestational weeks showed fetal ascites, severe oligohydramnios and non-visualization of fetal urinary bladder and kidneys. The pregnancy was terminated. At delivery, the proband displayed dysmorphic features of hypertelorism, a prominent glabella, epicanthic fold, a stubby nose with a depressed nasal bridge, anteverted nares, thin lips, micrognathia, low-set ears, a short neck and a distended abdomen. Necropsy confirmed bilateral renal agenesis and ascites. A cytogenetic study performed on fibroblasts obtained from the proband's skin revealed an extra supernumerary chromosome. The mother was later found to have a reciprocal translocation. fluorescence in situ hybridization for a submicroscopic deletion in chromosome 22q11 in the proband was negative. The parents had no urological anomalies. Our observation further extends the clinical spectrum associated with proximal trisomy 13q and distal trisomy 16p. We suggest prenatal cytogenetic analysis in fetuses with urological anomalies, including renal agenesis, to uncover underlying genetic disorders. ( info) |
10/161. Treatment of iatrogenic previable premature rupture of membranes with intra-amniotic injection of platelets and cryoprecipitate (amniopatch): preliminary experience. OBJECTIVE: Our aim was to describe the treatment of iatrogenic previable premature rupture of membranes with the intra-amniotic injection of platelets and cryoprecipitate (amniopatch). STUDY DESIGN: patients with iatrogenic previable premature rupture of membranes and without evidence of intra-amniotic infection underwent transabdominal intra-amniotic injection of platelets and cryoprecipitate through a 22-gauge needle. The study was approved by the Institutional review Board of St Joseph's Hospital in Tampa, florida, and all patients gave written informed consent. RESULTS: Seven patients with iatrogenic preterm premature rupture of membranes underwent placement of an amniopatch. Membrane sealing was verifiable in 6 of 7 patients. Three patients had iatrogenic preterm premature rupture of membranes after operative fetoscopy, 3 cases were after genetic amniocentesis, and 1 was after diagnostic fetoscopy. Three pregnancies progressed well, with restoration of the amniotic fluid volume and no further leakage. Two patients had unexplained fetal death despite successful sealing. One case of bladder outlet obstruction had no further leakage, but oligohydramnios persisted and did not allow unequivocal documentation of sealing. One patient miscarried from twin-twin transfusion, but the amniotic cavity was sealed. CONCLUSIONS: Iatrogenic preterm premature rupture of membranes can be treated effectively with an amniopatch. The technique is simple and does not require knowledge of the exact location of the defect. Unexpected fetal death from the procedure may be attributable to vasoactive effects of platelets or indigo carmine. Although the appropriate dose of platelets and cryoprecipitate needs to be established, the amniopatch may mean that iatrogenic preterm premature rupture of membranes no longer needs to be considered a devastating complication of pregnancy. ( info) |