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PubMedDate not supplied

Large hepatic mesenchymal hamartoma leading to mid-trimester fetal demise.

This report describes a fetus with a large multiloculated cystic liver mass. Two small abdominal cysts were seen on ultrasound at 19 weeks of gestation but the patient was referred to us at 23 weeks, after the mass had grown to 8.0 x 5.6 x 7.0 cm, displacing intra-abdominal organs, heart and diaphragm. There was a small amount of ascites but no hydrops. There was polyhydramnios and a thick hyperechoic placenta. After detailed sonograms and MRI suggested the diagnosis of cystic mesenchymal hamartoma of the liver, cyst decompression was favored and consent was obtained. Unfortunately, absence of fetal cardiac activity was noted on the day of the planned intervention. Autopsy confirmed the diagnosis and demonstrated placental changes consistent with mesenchymal stem villous hyperplasia of the placenta. Large fetal cystic abdominal masses that compress the heart, lungs and other organs may benefit from prenatal decompression. This is the first report of cystic hamartoma of the liver apparent on second-trimester sonography, and the fourth time such a lesion is associated with fetal or neonatal death out of 11 cases diagnosed prenatally.

Adult↗
PubMedDate not supplied

Congenital myotonic dystrophy.

We describe a case of severe congenital myotonic dystrophy (CDM). A 38-year-old primigravida, who was known to suffer from mild myotonic dystrophy (DM), conceived spontaneously and booked for confinement at 11 weeks in our unit. The couple had been fully counseled about the risks of transmission of this condition to their offspring before embarking on this pregnancy. Despite being fully aware of the risks, they declined prenatal diagnosis. The pregnancy was monitored by serial ultrasound scans. The diagnosis of CDM was suspected by ultrasound markers of borderline ventriculomegaly, polyhydramnios, and reduced fetal movements. The pregnancy ended prematurely at 33 weeks in an emergency caesarean section because of severe fetal compromise. The neonate died almost immediately after birth. The genetic analysis of cord blood confirmed severe DM. This case highlights the importance of ultrasound markers for the diagnosis of CDM in the absence of definitive prenatal diagnosis.

Adult↗
PubMed2006

Hemodynamic analysis of cephalothoracopagus by the color doppler method. A comparison to normal fetuses via a longitudinal study.

In a case of cephalothoracopagus, the umbilical artery (UA) was observed with color Doppler method, and the findings were compared with the hemodynamics of 46 normal fetuses. The patient was a 25-year-old primigravida who had appeared for routine prenatal visits since her 6th week of pregnancy. At a later time, the patient was examined after an interval of 4 weeks. Although an ultrasonography was also conducted, unfortunately, any findings of cephalothoracopagus were not detected. In the 25th week of gestation, we hospitalized her for marked polyhydramnios (amniotic fluid index: 280 mm), at which time an ultrasound examination revealed cephalothoracopagus. In the UA, the V(max) was 30.3 cm/s (normal fetus at 25-28 weeks: 33.5 +/- 3.9 cm/s). The UA hemodynamics fell below the normal range. At 26 weeks, the UA V(max) was 56.5 cm/sec, a level which significantly exceeded the normal range. The patient underwent a cesarean section at 27 weeks of gestation; the indication was fetal distress. This is caused by the condition in which the fetal heart beats decreases to 90 beats per minute 3 times during a 10-min period as measured on the cardiotocograms. She delivered a 1,392-gram female with an Apgar score of 2 points (respiratory 1 point and heart rate 1 point). The infant was a cephalothoracopagus, with one head, two hearts, four upper limbs, and four lower limbs. The neonate died from circulatory failure 56 min after birth.

Adult↗
PubMed2006

Ballantyne syndrome: a case report.

Ballantyne syndrome (also called mirror syndrome or triple edema) describes the unusual association of fetal and placental hydrops with maternal preeclampsia. This is a case report illustrating a 37-year-old patient who was referred to our clinics at 28 weeks of gestation (wg) because of fetal hydrothorax. On examination, the woman did not show signs of preeclampsia. The fetal ultrasound examination revealed bulky hydrothorax, generalized subcutaneous edema, placental edema, and polyhydramnios. It was not possible to find the cause of the fetal hydrops. At 29 weeks and 4 days of gestation, the fetal hydrothorax was removed by two pleuro-amniotic shunts, but at the moment of our intervention anasarca was already present. In the following 3 days, despite observing bed rest, the mother developed edema of hands and face, while blood pressure remained normal. At 30 wg the patient underwent cesarean section because fetal movements ceased and the fetal heart rate monitoring showed loss of variability and decelerations. Before dying, the neonate lived for 20 days in a state of deep hypotension.

Adult↗
PubMed2006

Bacterial vaginosis and group B streptococcal colonization and preterm delivery in a low-risk population.

OBJECTIVE: To evaluate the relationship between bacterial vaginosis (BV) and group B streptococcal (GBS) colonization in the 2nd trimester of pregnancy and preterm delivery. METHODS: 1,197 pregnant women between 22 and 25 weeks' gestation had a high vaginal swab for assessment of BV and GBS. Exclusion criteria were: previous preterm delivery, or mid-trimester abortion or termination of pregnancy, multiple gestation, oligo- or polyhydramnios, placenta previa, fetal abnormalities, uterine malformations, cervical incompetence, cervical cerclage, or receipt of an antibiotic effective against BV or GBS following the screening. All women had no risk factors for preterm delivery. The primary outcome measure in this analysis was spontaneous preterm delivery before 37 weeks' gestation. RESULTS: The preterm delivery rate was 8.7%, while the maternal BV and GBS colonization rates were 7.9 and 12.5%, respectively. Following adjustment for potential confounders BV was associated with an increased risk of preterm delivery (RR 2.19; CI: 1.21-3.98) (p = 0.01). On the contrary, GBS colonization was found to have a negative correlation with preterm birth (RR 0.43; 95% CI: 0.19-1.00). CONCLUSIONS: Although BV is a risk factor for preterm delivery, GBS colonization in the 2nd trimester of pregnancy has an inverse correlation with preterm delivery.

Adult↗
PubMed2006

An experience of laser surgery for feto-fetal transfusion syndrome complicated with unexpected feto-fetal hemorrhage in a case of monochorionic triamniotic triplets.

Feto-fetal transfusion syndrome (FFTS) in monochorionic triplets is a rare clinical entity which may share the principal adverse perinatal outcomes of twin-twin transfusion syndrome. Recently, favorable prognoses regarding morbidity and mortality in twins after selective laser photocoagulation of placental communicating vessels (SLPCV) have been described. But descriptions of this procedure in monochorionic triplet cases are limited. This is the case report of an experience of SLPCV applied to monochorionic triamniotic triplets with FFTS. Triplet A had polyhydramnios, while absent end-diastolic flow in the umbilical artery of triplet B, the triplet with anhydramnios, was persistent. Triplet C looked normal, vertical amniotic pocket and Doppler studies yielding normal results. At the beginning of the SLPCV procedure, feto-fetal hemorrhage, subsequent to the fetal death of the donor triplet, occurred. Both surviving cofetuses showed persistent bradycardia; and 1 fetus died while the other recovered from the fetal bradycardia. All vascular anastomoses between the 3 triplets could be identified and obliterated, requiring two trocars. Our fetoscopic observation revealed feto-fetal hemorrhage after demise of monochorionic triplet, which led to injury of other fetuses due to hypovolemia in an instant. In conclusion, SLPCV might be a valid option for FFTS in triplet cases, while further experience is required in order to evaluate the risks and benefits of this procedure in triplet cases.

Adult↗
PubMed2006

Spontaneous rupture of fetal sacrococcygeal teratoma.

With recent advances in technology, fetal sacrococcygeal teratoma is being diagnosed increasingly during the early prenatal period by ultrasound examination. In addition, early detection of tumor related complications such as polyhydramnios, congestive heart failure, hydrops, hemorrhage, urinary tract or bowel obstruction can be followed closely in utero. Active prenatal management can improve fetal perinatal outcome by allowing planned delivery for neonatal surgery [Chisholm, C.A. et al.: Am J Perinatol 1999;16:47-50] or in some cases, fetal intervention. Additionally, families can be counseled appropriately regarding the range of outcomes. We report a case of fetal sacrococcygeal teratoma Type I diagnosed at 20 weeks with a prominent vessel supplying the tumor mass. At 23 weeks, there was a sudden appearance of an additional lobular mass, consistent with intrauterine spontaneous ruptured of a sacrococcygeal teratoma mass.

Adult↗
PubMed2006

Retrospective diagnosis of Pallister-Killian syndrome by CGH array.

OBJECTIVE AND METHODS: We report a girl presenting with a polymalformation syndrome. Despite a normal karyotype on peripheral lymphocytes and the unavailability of cultured fibroblasts, a tetrasomy 12p was identified on pulmonary DNA extracted from a postmortem biopsy, by use of comparative genomic hybridization (CGH) and confirmed by CGH array. The clinical picture of our patient was consistent, but not specific of the diagnosis of Pallister-Killian syndrome. She presented with the association of antenatal polyhydramnios, craniofacial dysmorphic features, skeletal abnormalities, and a congenital cardiopathy. CONCLUSION: We discuss the usefulness of CGH and CGH array in prenatal and constitutional cytogenetics.

Abnormalities, Multiple↗
PubMed1986

Pregnancy outcome following ultrasound diagnosis of fetal urinary tract anomalies and/or oligohydramnios.

We have reviewed 49 pregnancies with ultrasound evidence of fetal urinary tract anomalies and/or oligohydramnios. A surprisingly large number of fetuses with urinary tract obstruction had significant other anomalies. Fetuses with urinary tract obstruction, but a normal amount of amniotic fluid, did well without in utero intervention; however, those with oligohydramnios or polyhydramnios fared poorly. Longer periods of oligohydramnios in fetuses with urinary tract obstruction seemed to be associated with pulmonary hypoplasia and renal dysplasia. Oligohydramnios without urinary tract obstruction complicated 28 pregnancies; there were only 10 survivors. Diagnostic pitfalls are described.

Amniotic Fluid↗
PubMed1987

Experience with 8 cases of prenatally diagnosed sacrococcygeal teratomas.

Based on an analysis of eight prenatal diagnoses of sacrococcygeal teratomas and a review of the literature on this condition, sacrococcygeal teratoma can be accurately diagnosed which is related to significant fetal wastage as well as neonatal morbidity and mortality. These tumors are usually benign and the long-term morbidity, but not the overall survival rate, appears to be related to the American Academy of Pediatrics Surgical Section type of tumor. alpha-Fetoprotein can be normal or elevated and acetylcholinesterase in amniotic fluid can be present in spite of the polyhydramnios, but sonography can distinguish these lesions from neural tube defects. Nonimmune hydrops is an ominous sign, particularly in cases detected early in pregnancy. Timing and method of delivery are important considerations for neonatal survival with these lesions. However, normal survival with minimal morbidity is possible even in the largest of sacrococcygeal teratomas.

Cesarean Section↗
PubMed1987

Congenital diaphragmatic hernia: current controversies in prenatal and postnatal management.

A prenatal diagnosis of congenital diaphragmatic hernia (CDH) is associated with a poor prognosis, especially if diagnosed early in gestation and associated with polyhydramnios. Although uncommon, it is important to rule out associated anomalies, so that elective termination can be considered. If CDH is an isolated anomaly, the outcome is related to the degree of pulmonary hypoplasia caused by viscera displacing the lung in utero. Unfortunately, our ability to assess lung size, and thus prognosis, is limited. Most babies with CDH either die shortly after birth or survive to lead normal lives, so that continuation of the pregnancy is extremely unlikely to produce a chronically ill pulmonary cripple. The fetus should be followed with periodic ultrasounds and delivered at a perinatal center with appropriate neonatal and surgical expertise. There is no evidence that altering the timing or mode of delivery affects outcome. The only way to alter outcome and save the severely affected fetus is to remove the viscera from the chest and allow the fetal lung to develop before birth. Despite the fact that fetal repair of CDH makes sense physiologically, however, it remains a highly experimental technique. Postnatal management of CDH involves resuscitation, paralysis, and positive pressure ventilation. The practice of emergency repair is not supported by pathophysiology, and operation should be delayed until the patient has been stabilized. Mortality is often due to pulmonary hypoplasia, but in some cases, there is a period of deterioration due to pulmonary hypertension resulting in right-to-left shunting (persistent fetal circulation). Pharmacological agents are often used to decrease pulmonary vascular resistance and increase cardiac output.(ABSTRACT TRUNCATED AT 250 WORDS)

Female↗
PubMed1987

Fetal echocardiography: a review of six years experience.

Between January 1982 and January 1988, 2,060 pregnant patients were scanned for congenital heart defects (CHD). In 76.5% of these patients, there was an increased risk of CHDs in their offspring. In this group there were 27 CHDs, 17 of which were correctly diagnosed prenatally. In the remaining 23.5% of the patients, the indication for cardiac studies was fetal pathology in the present pregnancy (fetal cardiac arrhythmia, polyhydramnios, severe intrauterine growth retardation, fetal ascites and suspected structural anomalies). In this group there were 82 CHDs, 79 of which were correctly diagnosed prenatally. The incidence of abnormal karyotype was 35%. When a CHD is diagnosed, a realistic prognosis can be given and appropriate obstetric measures taken according to the degree of disease. In cases with a good prognosis careful follow-up may be offered resulting in the delivery of an infant in optimal condition. Reassurance can be given to patients when abnormalities are excluded.

Echocardiography↗
PubMed1988

Twin-twin transfusion syndrome: the surgical removal of one twin as a treatment option.

The twin-twin transfusion syndrome, associated with acute polyhydramnios in the 18th to 28th week of gestation, has a high perinatal mortality rate. Patients managed without intervention have essentially a 100% mortality rate for the involved twins. Different methods of intervention have been described, including therapeutic amniocentesis, selective feticide, and placental vessel puncture. In this case report we describe selective removal of one twin at 21 weeks of gestation by hysterotomy in a patient with the twin-twin transfusion syndrome.

Abortion, Eugenic↗
PubMed1989

Reevaluation of nonstress test by umbilical venous blood profile using cordocentesis.

Fetal blood sampling by cordocentesis was performed in 85 cases of fetuses with either nonimmune hydrops fetalis, anomalies, intrauterine growth retardation, maternal immunological disorders, Rh incompatibility, hydronephrosis, polyhydramnios, maternal preeclampsia or fetal tumor. Fetal heart rate monitoring was also recorded before cordocentesis. We evaluated the usefulness of the nonstress test (NST) with regard to fetal hematologic gas profiles including pH, pO2 and pCO2. When the acceleration was classified into reactive and nonreactive group, pH and pO2 were significantly higher in the reactive group than in the nonreactive group. pCO2 was significantly lower in the former than the latter. However, the sensitivity and specificity of the reactive NST predicting fetal umbilical venous pO2 over 20 mm Hg was 79.7 and 68.7%, respectively. The false-positive rate of nonreactive NST predicting hypoxemia below 20 mm Hg pO2 was 44%. As a consequence, we cannot always rely on the NST, and should perform fetal blood sampling to assess fetal condition for further management.

Carbon Dioxide↗
PubMed1990

Catecholamine levels and their correlation to blood gases in umbilical venous blood obtained by cordocentesis.

The plasma catecholamine concentration was evaluated in umbilical venous blood obtained by cordocentesis performed in 77 fetuses for indications including: nonimmune hydrops; Rh incompatibility; intrauterine growth retardation; polyhydramnios; anomalies; immunological disorders, and possible viral infection. The pH as well as pO2 of the umbilical venous blood showed a notably significant negative correlation with the norepinephrine concentration (r = -0.5607, r = 0.4467); while pCO2 was also significantly correlated with the norepinephrine concentration (r = 0.4955). When the pCO2/pO2 ratio was tentatively put up for comparison, the ratio was undoubtedly better correlated (r = 0.60442) with the fetal norepinephrine concentration than any other biochemical variable. Moreover, the ratio over 2.0 suggests that fetal catecholamine values have reached abnormal levels.

Carbon Dioxide↗
PubMed1992

Early prenatal diagnosis and therapy of fetal hypothyroid goiter.

We report a case of early diagnosis of iodide-induced fetal hypothyroidism at 22 weeks of gestation, confirmed at 29 weeks by cordocentesis and successfully treated intra-amniotically. The ultrasonographic feature was the presence of two echogenic masses in the fetal neck; polyhydramnios was absent. Mild hypothyroidism was diagnosed based on fetal serum obtained by percutaneous umbilical blood sampling at 29 weeks of gestation. The persistence of fetal hypothyroidism in spite of maternal thyroid improvement was confirmed by a second cordocentesis at 35 weeks of gestation, and a single injection of intra-amniotic levothyroxine (250 micrograms) was performed. The serial ultrasonographic examinations showed disappearance of the fetal goiter. A healthy female baby (3,630 g) was delivered at term. At birth, the thyroid gland was not enlarged, and neonatal thyroid hormones were within the normal range. This case suggests that cordocentesis is a reliable method to assess the fetal thyroid status; moreover a single injection of intra-amniotic thyroxine was effective in treating fetal hypothyroid goiter.

Adult↗
PubMedDate not supplied

Survival in non-immune hydrops fetalis without malformation or chromosomal abnormalities after invasive treatment.

The aim of the study was to determine the outcome of fetuses with non-immune hydrops (NIH) following modern invasive investigation and therapy. This prospectively planned observational study involved 23 women with singleton fetuses in whom a diagnosis of NIH was made in our fetal medicine unit in 1 year. After investigation and counselling 15 of the 23 women opted for termination of pregnancy (10 chromosomal and 5 structural abnormalities) and there was 1 intrauterine fetal death before therapy was attempted. One case with diaphragmatic hernia was treated with shunting which successfully reversed the hydrops, the pregnancy continued to term, the malformation was surgically corrected but the neonate died from pulmonary hypoplasia. In the remaining 6 cases structural and chromosomal abnormalities were excluded. One had amniotic fluid drainage for polyhydramnios but despite this delivered at 30 weeks' gestation and the neonate died on day 5. The remaining 5 cases had fetal therapy between 22 and 32 weeks' gestation (4 shunt insertions, 1 blood transfusion) and in all the hydrops reversed and the pregnancy continued to at least 35 weeks' gestation. All 5 neonates were discharged from hospital alive and well. Fetal therapy in cases of NIH with normal structure and karyotype was associated with a very good outcome. Giving a uniform poor prognosis is no longer justified because if other fetal abnormalities are excluded, in utero treatment, reversal of the hydrops and survival are often possible. We recommend urgent referral of these cases to a fetal medicine unit.

Adolescent↗
PubMedDate not supplied

Congenital diaphragmatic hernia: prognosis and prenatal detection.

Fifty consecutive cases of isolated congenital diaphragmatic hernia were reviewed for prenatal ultrasound and neonatal physical findings. These were compared to survival and the need for extracorporeal membrane oxygenation (ECMO). No prenatal findings predicted survival or the need for ECMO. In left-sided hernias, the presence of the liver in the chest predicted (p = 0.02) the requirement for ECMO. In a cohort of 13 prenatally diagnosed inborn cases, the ultrasound triad of polyhydramnios, mediastinal shift and intrathoracic stomach predicted the presence of liver in the chest (p < 0.03).

Extracorporeal Membrane Oxygenation↗