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Percutaneous laser ablation of fetal congenital cystic adenomatoid malformation: too little, too late?

OBJECTIVE: Congenital cystic adenomatoid malformation, type III (CCAM III) lesions are large, bulky tumors which can cause mediastinal shift, prevent normal pulmonary growth, and compress the esophagus, thus leading to complications of nonimmune hydrops, pulmonary hypoplasia and polyhydramnios. Because the mortality rate of untreated fetuses with CCAM and hydrops is high, early delivery or intrauterine resection of the enlarged pulmonary lobe (lobectomy) is indicated; however, open fetal resection of CCAM at less than 30 weeks is associated with perioperative mortality that approaches 40%, as well as the usual maternal and fetal morbidity of open fetal surgery. As an alternative, percutaneous laser ablation of a CCAM III lesion with hydrops was attempted. METHODS: A 30-year-old G3 P1011 with CCAM III in the left fetal hemithorax developed mediastinal shift, hydrops and polyhydramnios at 23 weeks' gestation. After pregnancy termination and open fetal resection were declined, an 18-gauge needle was placed into the fetal tumor percutaneously under real-time ultrasonographic guidance, using sterile technique with light sedation. A cleaved 400-microm Nd:YAG laser fiber was passed through the needle lumen, and using a power setting of 15 W, a total of 2,943 J of laser energy was delivered in pulses of 1.0 s at 0.2-second intervals over two sessions one week apart. RESULTS: Although tumor size decreased, the hydrops worsened and fetal death occurred. CONCLUSIONS: The fetus with CCAM complicated by hydrops is already so compromised by the advanced state of the disease that insufficient time is available for necrotic tissue reabsorption after minimally invasive therapy with laser energy. Until earlier markers for intervention are determined, percutaneous laser debulking of CCAM is unlikely to be successful.

Catheter Ablation↗

Usefulness of magnetic resonance imaging for accurate diagnosis of Pfeiffer syndrome type II in utero.

OBJECTIVE: To present the usefulness of fetal magnetic resonance (MR) imaging for accurate diagnosis of Pfeiffer syndrome type II. CASE AND METHODS: A 19-year-old woman was referred to us at 29 weeks of gestation for prenatal management of hydrocephalus. Ultrasonography of the fetus showed cloverleaf skull with dilated lateral ventricles, exophthalmos, macroglossia, and a single ventricle of the heart in addition to polyhydramnios. MR imaging was performed at 30 weeks of gestation and revealed cloverleaf skull, dilated lateral ventricles, and broad thumb. Fetal karyotyping indicated 46,XY, but DNA sequence analysis showed a single sequence variation (Nt 1198A>G) in the fibroblast growth factor receptor (FGFR) 2 gene (exon 10). On the basis of these findings, the baby was diagnosed in utero with Pfeiffer syndrome type II. Following counseling, the pregnancy was terminated because polyhydramnios made the patient's symptoms more severe. The patient delivered her baby vaginally at 34 weeks of gestation. The baby's birth weight was 2,298 g; the baby was declared dead at 25 min after birth. CONCLUSION: The detailed findings obtained by a combination of ultrasound that included three-dimensional and MR imaging and confirmation sought via molecular testing led to an accurate diagnosis of Pfeiffer syndrome type II in utero.

Acrocephalosyndactylia↗

Successful in utero treatment of fetal goitrous hypothyroidism: case report and review of the literature.

In this report, we present a case of fetal goiter with overdistended fetal neck and mild polyhydramnios. Amniocentesis and cordocentesis were conducted at 32 weeks' gestation and fetal goitrous hypothyroidism was diagnosed. Intra-amniotic injection of l-thyroxine (T4) was performed with a weekly dose of 150 microg four times between 33 and 36 weeks' gestation. In response to this in utero treatment, the goiter was reduced and polyhydramnios was improved. The mother gave birth to a healthy live male infant with normal thyroid function. From our case report and review of previous literature, we recommend that the amount of l-thyroxine start as low as 150 microg, and that repeat cordocentesis be avoided as long as other clinical and laboratory parameters indicate improvement of the fetal conditions.

Adult↗

Prenatal diagnosis of Bartter syndrome with biochemical examination of amniotic fluid: case report.

Antenatal Bartter syndrome typically presents with marked fetal polyuria that leads to polyhydramnios and premature delivery. In our case, polyhydramnios was detected at 26 weeks of gestation and amniotic fluid chloride level was high. Serial amnion-drains were performed. During indomethacine treatment, fetal bradycardia developed. The mother was given daily oral potassium to maintain normal serum level and prevent fetal arrhythmias. After birth, hypokalaemic alkalosis, low chloride, hyper-reninemia and hyperaldosteronemia were detected.

Adult↗

Management of prenatally diagnosed tracheal obstruction: access to the airway in utero prior to delivery.

A fetus of 23-weeks gestation presented with polyhydramnios, and was found on sonography to have a large anterior cervical teratoma. At 26 weeks the mother went into premature labor and the membranes ruptured; at this time the uterus was of 32-weeks size secondary to polyhydramnios. A cesarean section was performed through a low transverse uterine incision, and the fetal head and shoulders were delivered with the cord intact. An endotracheal tube was placed, and the cord was then divided. The baby was taken to the neonatal intensive care unit for stabilization prior to planned resection, but suffered pharyngeal hemorrhage followed by endotracheal tube dislodgement several hours after birth, and expired. Despite an unfortunate outcome, this case illustrates the feasibility and potential value of in utero airway access in cases of prenatally diagnosed tracheal obstruction.

Adult↗

Twin-to-twin transfusion syndrome: selective feticide by embolization of the hydropic fetus.

To improve the outcome of severe twin-to-twin transfusion syndrome with 1 hydropic fetus and to prevent ischemic sequelae in the survivor, we developed a technique of selective feticide by vascular embolization of the most severely damaged twin. Acute second trimester polyhydramnios occurred in 4 biamniotic monochorial twin pregnancies, with 1 fetus normal on ultrasound but the other severely damaged by hydrops and hypertrophic hypokinetic cardiomyopathy. The hydropic fetus underwent embolization using a bolus of histoacryl injected into the umbilical vein and fetal heart under ultrasound guidance. In 1 triplet pregnancy with a set of monochorial fetuses, premature labor occurred at 26 weeks, 2 weeks after embolization, and there were 2 neonatal deaths. The 3 other cases resulted in the birth of a normal infant at 31-37 weeks of gestation. This suggests that in twin-to-twin transfusion syndrome with severe polyhydramnios and hydrops of 1 fetus, embolization may salvage the other twin.

Embolization, Therapeutic↗

The congenital mesoblastic nephroma: a case report of prenatal diagnosis.

The congenital mesoblastic nephroma is a very rare benign congenital renal tumor. It is the most common renal tumor before the age of 6 months (50%) and it constitutes only 5% of renal tumors before 15 years. The authors report a case of prenatal diagnosis of congenital mesoblastic nephroma revealed by an acute polyhydramnios at 33 weeks of pregnancy. After a preterm labor, the patient delivered at 35 weeks. The newborn underwent a radical nephrectomy. No recurrence was noticed at 10 months. This case of prenatal diagnosis is compared to the 12 cases previously reported. The prognosis of CMN depends on histologic findings, but also on the severity of prematurity induced by the polyhydramnios. The main treatment of this pathology if diagnosed during pregnancy remains the prevention of preterm labor, and after birth the removal of the kidney.

Adult↗

Prenatal diagnosis of pygopagus tetrapus parasitic twin: case report.

BACKGROUND: Asymmetric and parasitic conjoined twins are rarer anomalies of monochorionic monoamniotic twins, consisting of an incomplete twin attached to the fully developed body of the co-twin. CASE PRESENTATION: A 30-year-old multigravid woman referred to maternal fetal unit due to polyhydramnios at 28th week of gestation. Sonographic examination revealed a single fetus and polyhydramnios with amniotic fluid index 30 cm. The fetus had normal apparent single head, spine, thorax, abdomen, two upper and two lower limbs, and two relatively well developed rudimentary parasitic lower limbs at sacral region. Lower limbs of the autosite were moving freelly but no movement was detected at the parasite. The parasite contained irregular lower limbs and left foot with three toes. Short and deformed long bones were also present in the parasitic limbs. A Cesarean section was performed at 38th week of gestation and a live female infant weighing 3600 g was delivered. The parasitic lower limbs were totally excised. Post-operative period was uneventful and the newborn was discharged as healthy. Post-natal follow-up was normal at nine-month-old. CONCLUSION: Pygopagus tetrapus parasitic twin is a rare form of conjoined twins and in utero diagnosis with ultrasound assists in prenatal management and counselling with parents.

Journal Article↗

Characteristics of monochorionic-diamniotic growth-retarded twins during the third trimester.

The goal of this study was to assess the characteristics of monochorionic-diamniotic (MD) growth-retarded twin infants with twin-twin transfusion syndrome (TTTS) compared with those without TTTS during the third trimester. Retrospective analyses of the growth patterns and amniotic fluid volumes were performed on 5 MD twin pregnancies in which one or both twins showed growth retardation with TTTS, and the results weve compared with those without TTTS. Eighty-three percent of growth-retarded twin infants without TTTS in MD twin gestation showed an asymmetric growth pattern, while all TTTS cases showed a symmetric pattern (p < 0.05). Polyhydramnios of the co-twin was found in 80% of TTTS cases, while no polyhydramnios was found in patients without TTTS (p < 0.05). Assessment of growth patterns and amniotic fluid volume may be useful to exclude the possibility of TTTS in MD growth-retarded twin pregnancies during the third trimester.

Adult↗

Obstetrical and neonatological aspects of a child with atresia of the small bowel.

A patient was admitted to the hospital in the 31st week of gestation because of reduced sensation of fetal movements and a pathologic fetal heart rate tracing (Fig. 1). At first no underlying pathology could be found. After a week she developed a polyhydramnios. After repeated ultrasonographic examinations an atresia of the fetal small bowel was suspected (Fig. 2). The diagnosis could be confirmed after birth and on the same day the child was operated on. An atresia of the ileum was found. After liberal resection of the atretic part, recovery was complete. The malformation has an incidence of 1: 12,500-20,000. The etiology is thought to be a temporary or definite obstruction of a mesenterial artery branch, supplying the small bowel of the fetus. It develops after organogenesis and could be caused by kinking of an artery during rotation, an embolus, amniocentesis, volvulus, intussusception or snaring at the umbilical ring. Polyhydramnios is the first symptom in about one third of the cases. Diagnosis can be confirmed by fetography or ultrasonography. The latter is preferred because of its non-invasivity. In amniotic fluid, high levels of bile salts (up to thirty times the normal level) have been described in combination with atresia of the small bowel. A diminished disacharidase activity is also ascribed to it. Most of the time the diagnosis is suspected after birth on the basis symptoms such as a gastric aspirate of more than 25 cc, bile vomiting within a few hours, absence of meconium stool or distension of the abdomen. It can be confirmed by X-ray examination.(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗

[Risk factors for neonatal asphyxia in neonates weighing more than 1000 grams]

OBJECTIVE: To evaluate some of the risk factors for neonatal asphyxia in neonates weighing more than 1000 grams. METHODS: In a population of 13.385 consecutive deliveries, from January 1991 to December 1994, 135 newborns with neonatal asphyxia were compared with 135 without the disease, in a casecontrol study, matched by birth weight, at the Neonatology Unit of the Pediatric Department of the Universidade Estadual de Campinas (UNICAMP). The statistical analysis employed was bivariate and multiple by logistic regression, and expressed as odds ratio (OR) with 95% confidence intervals. RESULTS: In the bivariate analysis, the factors significantly associated with asphyxia were: abruptio placentae [OR = 8.00 (1.07-353.4)], cesarean section [OR = 2.94 (1.64 -5.55)], breech presentation [OR = 3.33 (1.54 - 7.98)], abnormal fetal heart rates [OR = 4.88 (2.25-12.08)], prolonged rupture of membranes [OR = 4.33 (1.19-23.71)], a meconial hemorrhagic or infected amniotic fluid [OR = 9.00 (3.58 - 29.03)], oligohydramnios or polyhydramnios [OR =5.00 (1.88 - 16.76), use of anesthesia [OR = 2.56 (1.41 - 4.89)] and general anesthesia [OR = 14.00 (2.13 - 598.8)], male sex [OR = 2.06 (1.12 - 3.92)] and a gestational age of less than 37 weeks [OR = 3.29 (1.37 - 9.07). After multiple analysis, abnormal amniotic fluid, oligohydramnios or polyhydramnios, and anesthesia were the only factors associated with neonatal asphyxia, and more than six prenatal visits was a protector factor. CONCLUSIONS: Obstetrical, perinatal and neonatal clinical events are associated with neonatal asphyxia, that concerted efforts to provide adequate prenatal care, optimal assistance during delivery and birth, and appropriate neonatal intensive care should significantly reduce neonatal morbidity and mortality.

Journal Article↗

Complications of pregnancy and foetal outcomes in pregnant diabetic patients managed in a tertiary hospital in Saudi Arabia.

OBJECTIVE: To compare the pregnancy complications and fetal outcomes in pregnancies complicated by diabetes mellitus. DESIGN: A retrospective cohort study. Setting- Abha Maternity Hospital, Abha, Saudi Arabia. MATERIALS AND METHODS: One hundred and eighty five diabetic pregnant patients who delivered at the Abha Maternity Hospital during the 3-year-period from April 2000-March 2003 formed the subjects of this study. There were 27(14.6%) (type 1) - insulin dependent diabetics, group 1, 19 (10.2%)(type 2), non insulin dependent diabetic patients who constituted group 2 and 139(75.2%) gestational diabetic patients who made up group 3. Data extracted from the case files included maternal age, gravidity, parity, number of abortions, gestational age at booking, time of diagnosis of diabetes mellitus, complications during pregnancy, birth weight, placental weight. RESULTS: There were no statistically significant differences in the three groups regarding the mean gravidity, parity, birth weight and placental weight (p > 0.05). However, statistically significant differences were found with respect to the mean maternal age, gestation at booking, fasting blood sugar, and gestation at delivery (p < 0.05). Out of 139 gestational diabetics, 23(16.5%) were diagnosed by the 141 week of pregnancy while 24(17.2%) were diagnosed between the 15- 27 weeks of gestation. The control of blood sugar was adjudged to be poor in 32% of gestational diabetics, 50% of type 2 diabetics and 69% of type l diabetics, with statistically significant difference between the groups, (p < 0.05). Although there was statistically significant difference between the groups regarding one of the pregnancy complications (polyhydramnios) (p < 0.05), none were found in other complications (p > 0.05). The overall caesarean section rate was 48%. The overall perinatal mortality was 5.7%, all the deaths occurred in babies born to patients with gestational diabetes. CONCLUSION: Gestational diabetes accounted for all the fetal losses in this study, while polyhydramnios was the most common antenatal complication which was significantly higher in type 1 diabetics.

Diabetes Mellitus, Type 1↗

[Epidemiological study of Steinert's congenital myotonic dystrophy: dysmorphological characteristics].

OBJECTIVE: Steinert's congenital myotonic dystrophy (CMD) is a systemic disease with autosomal mother-to-child transmission and characterized by generalized hypotonia, areflexia, facial diplegia, respiratory and alimentary diseases, arthrogryposis, polyhydramnios, etc. We present the study of the clinical and epidemiological characteristics of Steinert's CMD in our population, with special attention to its dysmorphological features. PATIENTS AND METHODS: In this study we present the analysis of 12 cases of Steinert's CMD identified among 26,956 infants with congenital defects registered by the Spanish Collaborative Study of Congenital Malformations (ECEMC) between April 1976 and March 1998. RESULTS: The minimum estimation of the prevalence in our population is 0.08 per 10,000 live births. We have epidemiologically observed in newborns with Steinert's CMD the presence of a statistically significant difference in the following variables: lower gestational age and birth weight, more polyhydramnios, more feet presentations and Cesarean sections, and a higher frequency of similar congenital defects in first degree relatives. The congenital defects most frequently associated to our population of CMD are located in the extremities, the head and face. CONCLUSIONS: It is important to recognize the congenital defects associated with neuromuscular disorders in the neonatal period, and particularly, the wide spectrum of Steinert's CMD that results in a fetal hypokinesia deformation sequence.

Case-Control Studies↗

Amniotic fluid volume responses to intra-amniotic infusion of lactate in fetal sheep.

OBJECTIVE: In human and ovine fetuses, severe anemia is associated with elevated fetal blood and amniotic lactate levels and polyhydramnios. In ovine fetuses, intravascular infusion of sodium lactate elevates fetal plasma and amniotic lactate levels and produces polyhydramnios. The present study tested the hypothesis that an elevated amniotic lactate concentration in the absence of an increased fetal plasma lactate would be associated with an increase in amniotic fluid volume (AFV). METHODS: Eight chronically catheterized, late-gestation fetal sheep were studied over 5 days. Twice each day, we measured blood gases and pH, electrolytes, glucose, lactate, and blood urea nitrogen (BUN) concentrations, as well as osmolality of fetal blood, maternal blood, amniotic fluid, and fetal urine. Amniotic fluid volume was measured once daily. During experimental days 2 to 4, lactic acid was infused into the amniotic compartment to achieve an amniotic lactate concentration of approximately 20 mmol/L. Statistical analysis was by analysis of variance and regression. RESULTS: Amniotic fluid lactate levels averaged 2.2 +/- 0.4 mmol/L (mean +/- standard error) before infusion and 18.9 +/- 3.3 mmol/L during the 72-hour infusion, falling to 5.8 +/- 1.2 mmol/L postinfusion (P < .001). Fetal plasma lactate averaged 1.8 +/- 0.1 mmol/L on day 1 and increased by 1.4 +/- 0.6 mmol/L on day 4 (P < .001). Fetal urine flow was unchanged and averaged 0.54 +/- 0.08 mL/min over the 5 days. Amniotic fetal volume was 821 +/- 186 mL on day 1, increased nonsignificantly by 99 +/- 95 mL on day 4, and remained unchanged on day 5. CONCLUSIONS: The present study suggests that if amniotic lactate acts osmotically to increase AFV, the effect is small. Thus, the primary site of action of elevated fetal lactate levels appears to be at the placenta rather than the intramembranous pathway.

Amniotic Fluid↗

[The evaluation of respiratory distress syndrome (RDS) risk factor evidence in newborns].

The aim of this study was to evaluate RDS risk factors in newborns of mothers with define pregnancy complications. The study group included mothers with imminent preterm delivery, intrauterine growth retardation, gestation cholestasis, serological collision, oligo- and polyhydramnios and foetus life threatens risk factors. RDS appeared in newborns born up till 35 weeks of gestation, for the risk factors analysis only preterm delivery, which were ended until 36 weeks of gestation were taken into consideration. Hypertension appeared to be a significant risk factor increasing the risk of RDS evidence 5 times and asphyxia, which increased by 4. In the logistic regression analysis model hypertension showed to increase the risk of RDS evidence 6 times, even when the time of delivery was considered. A, when the time of gestation was prolonged even one week the risk of RDS was decreased by 30%. The was no significant increase in RDS evidence in offspring of mothers with diabetes mellitus, cholestasis gravidarum, hypotrophia foetus or oligo and polyhydramnios.

Female↗

[Premature delivery in diabetes: etiology and risk factors].

Preterm birth is the leading cause of perinatal morbidity and mortality, while preterm labor and delivery in diabetes mellitus (DM) carries an increased risk of perinatal complications. We investigated the hypothesis that DM (gestational and pregestational) is an independent risk factor for preterm birth and evaluated the hypothesis that the risk factors for preterm birth in diabetics are different from those in non-diabetics. The study population consisted of all singleton deliveries at this hospital between 1990-1997. Excluded were those of mothers who had not had prenatal care, or who had only partial care or multiple gestations. There were 3 subgroups: 834 women with pregestational DM, 3,841 with gestational DM, and 66,253 non-diabetics. The combined spontaneous and induced preterm delivery rate was determined in each subgroup. Potential risk factors for spontaneous preterm deliveries were assessed by a univariate model. A logistic regression model was used to assess the unique contribution of DM (gestational and pregestational) to preterm delivery in the presence of the other risk factors, and to compare risk factors for preterm delivery between subgroups. The prevalence of spontaneous preterm delivery was: 7.1% in non-diabetics, 10.0% in those with gestational DM and 25.5% in those with pregestational DM. When adjusted by a multivariate model for other risk factors for preterm delivery, DM still remained an independent risk factor for spontaneous preterm delivery (gestational DM: odds ratio 1.28, 95% CI: 1.1-1.48; pregestational diabetes: odds ratio 3.4, 95% CI: 2.65-4.36). The main difference in risk factors for preterm birth between the 3 subgroups was the amount of amniotic fluid. Polyhydramnios was an independent risk factor for preterm delivery in non-diabetics and in pregestational DM, but not in gestational DM. On the other hand, oligohydramnios was associated with a higher risk for preterm delivery only in gestational DM compared to non-diabetics. DM (gestational and pregestational) is an independent risk factor for spontaneous preterm delivery. Polyhydramnios is an independent risk factor for preterm delivery in pregestational but not in gestational DM. Oligohydramnios is a greater risk factor for preterm delivery in gestational DM compared to non-diabetics.

Delivery, Obstetric↗

Misdiagnosis of congenital chloride-losing diarrhea.

Congenital chloride-losing diarrhea is a recessively inherited disorder due to the absence of chloride-bicarbonate exchange in the small bowel. Malabsorption of chloride leads to osmotic diarrhea, electrolyte abnormalities, and dehydration. If left untreated, the infants fail to thrive and have a very high mortality. Clinically, affected patients develop secretory diarrhea in utero resulting in distended bowel loops and polyhydramnios. At birth these infants have profuse watery diarrhea that may be confused with urine. Thus, the correct diagnosis is often missed, and they may be subjected to unnecessary interventions. If diagnosed early, the electrolyte abnormalities are easily corrected and the prognosis is good. We report two patients who were initially evaluated for other conditions but later proved to have congenital chloride-losing diarrhea. The cases emphasize the importance of having a high index of suspicion in patients with a history of polyhydramnios, prematurity, and watery stools.

Chlorides↗

[Perinatal outcome of discordant twin pregnancies].

OBJECTIVE: To discuss peripartum obstetrics events and perinatal outcomes of discordant twin pregnancies. METHODS: Discordant growth was defined as the intrapair difference in birth weight more than 20%. Ninety-six discordant twin pregnancies (observed group) and 349 concordant ones (control group) were compared in pregnant complications and perinatal outcomes. RESULTS: No difference of maternal age, chorionicity, methods of conception and fetal gender were found between two groups. Observed group had a higher incidence of late abortion (13.5% vs 4.3%, P < 0.05), polyhydramnios (22.9% vs 10.0%, P < 0.01), twin-twin transfusion syndrome (9.4% vs 1.4%, P < 0.01), placental abruption (5.2% vs 1.1%, P < 0.05), perinatal death (22.9% vs 4.4%, P < 0.01) and of fetal malformation (5.2% vs 1.3%, P < 0.01) than control group. In observed group, perinatal death was higher in smaller twin than in larger one (30.2% vs 15.6%, P < 0.05). The incidences of perinatal death were 4.4%, 11.0% and 41.9% and fetal malformation were 1.3%, 5.1% and 5.4% when the discordance was < or = 20%, 20%-30%, and > or = 30%, respectively (P < 0.05). CONCLUSIONS: Discordance places twins at increased risk for late abortion, premature delivery, polyhydramnios, twin-twin transfusion syndrome, placental abruption, perinatal death and fetal malformation. The smaller twin and great discordance are risk factors for poor outcomes. Chorionicity, methods of conception and fetal gender are not responsible for discordant growth.

Birth Weight↗