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PubMed2002

Intrauterine diagnosis and management of congenital goitrous hypothyroidism.

The intrauterine recognition and treatment of congenital goitrous hypothyroidism may not only reduce the obstetric complications associated with large goiters, but possibly improve the prognosis for normal growth and mental development of affected fetuses. We present a case of fetal goiter diagnosed at 29 weeks of gestation following routine ultrasound examination. Fetal blood sampling performed at this time confirmed the presence of fetal hypothyroidism. Treatment was performed using a series of intra-amniotic injections between 31 and 36 weeks, initially with tri-iodothyronine (T3) and subsequently with thyroxine. During this period, shrinkage of the fetal goiter, increasing neck flexion and resolution of the polyhydramnios was observed. Following birth, neonatal serum thyroid-stimulating hormone levels were within the normal range but thyroxine was reduced. The baby was started on daily oral thyroxine and, on examination 7 weeks following birth, he appeared clinically and chemically euthyroid. In the absence of maternal thyroid disease, fetal goiter is extremely rare, with only seven cases previously reported in the English literature to have used intra-amniotic thyroxine injections as a form of treatment. This report reviews the current literature regarding the diagnosis and intrauterine management of fetal goiter and considers the possibility of T3 therapy in future cases of congenital hypothyroidism.

Adult↗
PubMed2000

Routine use of external cephalic version in three hospitals.

BACKGROUND: External cephalic version has been advocated as a safe alternative to vaginal breech delivery or cesarean birth. The purpose of this study was to determine the efficacy of routine use of external cephalic version at 36 weeks or more of gestation in three different levels of hospitals. METHODS: External cephalic version was performed on 923 women with a single breech fetus at three hospitals in Italy. The procedure was attempted with a tocolytic agent for uterine relaxation and with no maternal analgesia. The version technique adopted was the "forward roll." RESULTS: Version was successfully performed on 579 fetuses (62.7%); each hospital had a similar success rate, and 56.9 percent of the women delivered vaginally. The procedure was more successful in multiparas and in women with an incomplete type of breech, polyhydramnios, and posterior localization of the placenta. Vaginal bleeding was experienced by 14 women; eight cesarean sections were performed for suspected abruptio placentae, confirmed in four cases. Two cephalic-turned fetuses experienced an episode of persistent bradycardia and were turned again to breech; in five cases a nonstress test recorded after the version showed repeated variable decelerations and in one case a cesarean section was performed. Neonatal outcomes were good in 922 infants. A fracture of the femur attributable to the version was observed in one newborn. CONCLUSIONS: External cephalic version is effective in reducing the number of cesarean deliveries in term breech infants in different obstetric settings, with no major neonatal adverse outcomes.

Adult↗
PubMedDate not supplied

Restrictive dermopathy: a case report and a critical review of all hypotheses of its origin.

Restrictive dermopathy (RD) is a rare, fatal, autosomal recessive genodermatosis in which tautness of a translucent thin skin is the major clinical observation. This causes an intrauterine fetal akinesia deformation sequence (FADS) resulting in polyhydramnios, reduced fetal movements at around 31 weeks gestation, dysmorphic facies, arthrogryposis, and early neonatal death because of respiratory insufficiency. The characteristic histologic abnormalities of the skin are located in a thin dermis, consisting of compactly arranged collagen fibers, scant elastic fibers, and poorly developed skin appendages. The epidermal rete ridges are flattened and the dermal-hypodermal border is remarkably straight. The etiology of these changes remains unclear. We tested several existing hypotheses and could not confirm them. These included fibroblast dysfunction, abnormal keratin composition, desmosomal changes, and increased proinflammatory cytokines [tumor necrosis factor (TNF)-alpha and interleukin (IL)-6]. We conclude that RD is a relatively easy clinical and pathologic diagnosis, but that the pathogenesis of the disease is not clarified.

Abnormalities, Multiple↗
PubMed1999

Familial pontocerebellar hypoplasia type I with anterior horn cell disease.

We report the association of pontocerebellar hypoplasia and anterior horn cell disease in three female siblings. One child presented with the classical clinical and neuropathological features of pontocerebellar hypoplasia with associated anterior horn cell disease, described by Barth as pontocerebellar hypoplasia type I. This patient showed polyhydramnios, congenital contractures, respiratory insufficiency, hypotonia, areflexia, listlessness and myoclonic seizures. Postmortem examination revealed a loss of neurons and reactive gliosis in the pontocerebellum and in addition anterior horn cell atrophy resembling Werdnig-Hoffmann disease. Another sibling demonstrated the same clinical symptoms. However neuropathological findings showed evidence for pontocerebellar hypoplasia only. The third sibling was examined after induced fetal abortion because of prenatally diagnosed arthrogryposis. Anterior horn cell disease was obvious histologically whereas pontocerebellar hypoplasia could not be demonstrated due to cerebral autolysis. The similar clinical and neuropathological findings in the three reported siblings suggest a common genetic defect with different patterns of pontocerebellar hypoplasia and associated anterior horn cell disease. The gene defect of this rare disorder is still unknown. The 'survival motor neuron' gene of spinal muscular atrophy was not found in these three siblings.

Abnormalities, Multiple↗
PubMed2000

Pontocerebellar hypoplasia--how many types?

An original article describes a sibship with early fatal pontocerebellar hypoplasia of a yet unclassified type, with the accompanying features of polyhydramnios and neonatal myoclonus. Autopsy in one patient excluded spinal anterior horn involvement, which argues against pontocerebellar hypoplasia type I (PCH-1). The present PCH classification and literature are briefly reviewed. Four previous publications bear similarity to the present report. Definite classification as a genetically separate entity, however, remains elusive pending localization and identification of the gene(s) involved.

Brain Diseases↗
PubMed2001

Segmental dilatation of the jejunum resembling prenatal volvulus.

A case of prenatally diagnosed intestinal obstruction caused by segmental dilatation of the jejunum is presented. Routine ultrasound scan showed mild polyhydramnios, a dilated small bowel loop, and scoliosis. On repeat ultrasound scan a volvulus was suspected, which led to cesarean section and laparotomy of the newborn, revealing the underlying pathology. Segmental resection and end-to-end anastomosis were followed by an uneventful recovery. Segmental dilatation of the intestine should be considered as a cause of prenatally manifested intestinal obstruction. Concomitant anomalies are frequent and may be helpful in making the correct diagnosis. J Pediatr Surg 36:927-929.

Abnormalities, Multiple↗
PubMed2002

The twin-twin transfusion syndrome.

The aetiology of twin-twin transfusion syndrome (TTTS), which affects 10-15% of monochorionic (MC) twin pregnancies, remains poorly understood. Although all MC twins have placental vascular anastomoses, unbalanced intertwin transfusion has been shown by ex vivo injection and in vivo Doppler studies of chorionic plate vasculature to be mediated by > or =1 arterio-venous anastomoses (AVA) in association with absent bi-directional arterio-arterial anastomoses (AAA). TTTS presents in the mid trimester with the oligo-polyhydramnios sequence, the donor may have a small or non-visible bladder and abnormal umbilical artery Doppler, while the recipient has a large bladder and may develop cardiac hypertrophy, triscupid regurgitation, and eventually hydrops. Recently, discordant renal renin angiotensin expression, endothelin and atrial natriuretic peptide have been implicated in the pathogenesis. Survival has increased from <20% to <60-70% with modern treatments, although survivors remain at increased risk of antenatally acquired cerebral white matter injury, and neurodevelopmental sequelae are documented in c.10% (range 5-23%). The recent introduction of a staging system for TTTS facilitates selection of therapy with less invasive amnioreduction and septostomy preferred for early stage disease, and more aggressive modalities such as laser ablation and cord occlusion with their attendant risk of procedure related fetal loss, reserved for advanced stage disease.

Developmental Disabilities↗
PubMed2002

The adverse renal effects of prostaglandin-synthesis inhibitors in the newborn rabbit.

Nonsteroidal anti-inflammatory drugs are frequently used during pregnancy (premature labor, polyhydramnios) and the immediate postnatal period (closure of patent ductus arteriosus). This article evaluates the renal effect of 3 nonspecific COX inhibitors (aspirin, indomethacin, and ibuprofen) in newborn rabbits. Five groups of anesthetized, ventilated, normoxemic 6-day-old rabbits (n = 52) were administered intravenous aspirin (40 mg/kg), indomethacin (2 mg/kg), and ibuprofen (0.02, 0.2, 2.0 mg/kg, respectively). Renal function and hemodynamics as assessed by inulin and para-aminohippuric acid clearances were measured before and in the hour after drug administration. In all groups of animals, the nonselective COX inhibitors induced an increase in renal vascular resistance and a consequent decrease in glomerular filtration rate and renal blood flow. Urine flow rate decreased significantly in all groups, except in the group receiving the lowest dose of ibuprofen. In newborn rabbits, aspirin, indomethacin, and ibuprofen induced intense renal vasoconstriction, which resulted in impaired renal function. This observation illustrates the major renal protective role played by the vasodilatory prostaglandins during the neonatal period, when the kidney is perfused at very low perfusion pressure. We conclude that all COX inhibitors should be administered with the same caution to the preterm neonate.

Animals↗
PubMed1999

[Epignathus: prenatal diagnosis by sonography and magnetic resonance imaging].

Prenatal diagnosis of a teratoma of the oral cavity (epignathus) is presented using ultrasonography and magnetic resonance imaging as complementary techniques. Chromosome analysis from amniotic fluid revealed an inverted duplication of chromosome 1 that was confined to the tumour, whereas the constitutional karyotype was normal. The development of polyhydramnios, presumably reflecting impaired fetal swallowing, led to premature rupture of membranes and spontaneous delivery at 23 + 4 weeks of pregnancy. The premature neonate succumbed to acute respiratory distress secondary to airway obstruction by the tumour, and died immediately after birth.

Adult↗
PubMed2000

Monozygotic twins with fetal akinesia: the importance of clinicopathological work-up in predicting risks of recurrence.

Fetal Akinesia Deformation Sequence (FADS) or Pena-Shokeir Sequence is a heterogeneous group of disorders in which prolonged decrease or absence of fetal movements results in a series of deformational anomalies: multiple contractures, pulmonary hypoplasia, craniofacial anomalies, polyhydramnios, intrauterine growth retardation, and short umbilical cord. Three sets of monozygotic twins, and their affected sibs, are presented. Detailed pathological work-up established that the two pairs of twins concordant for FADS were of myogenic etiology while the set discordant was due to anoxic-ischemic damage. In the myogenic cases, the rate of recurrence was high, in agreement with the findings from the study on arthrogryposis multiplex congenita of myogenic origin. In light of these findings, in sporadic cases of myogenic FADS, counselling, a recurrence risk of 25% seems prudent. In neurogenic cases associated with primary cerebral malformations, there are cases cited in the literature that are clearly recessive as indicated by affected sibs, but many reported are isolated occurrences. Therefore, in this scenario, giving a recurrent risk of 10-15% appears appropriate. In light of autosomal recessive spinal muscular atrophy and reports of familial FADS due to primary anterior horn cell loss, counselling a 25% risk seems prudent. In cases due to anoxic-ischemic damage, offering a low recurrent risk of 1% appears justified.

Female↗
PubMed2002

[Uteroplacental insufficiency in chorangiomatosis].

Chorangioma is a benign angiomatous tumor of the placenta occurring with a frequency of approximately 1 % of all examined placentas. Pregnancies especially with large chorangiomas are frequently complicated by abruptio placentae, premature labour, fetal anaemia, hydrops, cardiomegaly and polyhydramnios. We here report a case of an extremely rare chorangiomatosis. Multiple chorangiomas measuring up to 1.5 cm comprised approximately one third of the placenta. A caesarean section had to be performed at 36 weeks of gestation because of uteroplacental insufficiency with oligohydramnios. Displacement of normal placental parenchyma by chorangiomatosis as a cause of uteroplacental insufficiency is very likely. Colour doppler imaging allows early diagnosis and management of chorangiomas. Thus, in our case early diagnosis of uteroplacental insufficiency was rendered. Principally, early diagnosis of fetal hazard due to myocardial insufficiency of the fetus is feasible. In-utero-endoscopy permits prenatal laser devascularisation of large chorangiomas. In the reported case the pregnancy was closely monitored with colour flow imaging. The diagnosis of uteroplacental insufficiency was established because of abnormal blood flow of the uterine arteries and abnormal fetal heart rate (FHR). At the same time fetal cardiomegaly and pathologic blood flow of the ductus venosus in terms of beginning fetal myocardial insufficiency was recognized. Consequently, caesarean section could be performed opportune.

Cesarean Section↗
PubMed2002

Severe congenital diaphragmatic hernia (CDH): a critical analysis of eight years' experience.

UNLABELLED: OBJECTIVES. 1) To define the best outcome of severe Congenital Diaphragmatic Hernia (CDH); 2) to critically evaluate deaths in order to identify possible criteria of exclusion from ECMO; and 3) to identify CDHs which could benefit from ECMO. MATERIALS AND METHODS: 63 severe CDHs, 35 (55.6 %) survivors and 28 (44.4 %) nonsurvivors, subdivided into 2 groups according to age at death: Group I dying at 12 < or = 24 hours, and Group II dying at > 24 hours after birth. The three groups were compared on the basis of prenatal diagnosis, polyhydramnios, gestational age, birth weight, pneumothorax, best values of postductal PaCO 2 and PaO 2, clinical and echocardiographic signs of persistent pulmonary hypertension, and severity of pulmonary hypoplasia (i.e., body weight to bilateral lung weight ratio at autopsy). RESULTS: PaCO 2, PaO 2 and degree of pulmonary hypoplasia were significantly worse in Group I compared to Group II and to survivors. PaCO 2 and PaO 2 in Group II did not differ significantly from those of survivors. CONCLUSIONS: In severe CDH it is possible: 1) to achieve a survival rate of 56 % without ECMO; 2) to identify a group of patients (Group I = 27 %) with severe pulmonary hypoplasia who would probably die even with ECMO; and 3) to identify a group of patients (Group II = 17 %) who might benefit from ECMO treatment.

Extracorporeal Membrane Oxygenation↗
PubMed2003

Congenital fibrosarcoma of the jejunum in a premature infant with meconium peritonitis.

We report an unusual case of perforation of a congenital fibrosarcoma of the jejunum in utero and secondary meconium peritonitis. Prenatal ultrasound showed polyhydramnios and fetal ascites from 25 gestational weeks in the absence of other fetal congenital anomalies. A 2200 g baby girl was born at 34 weeks gestation, presenting with severe generalized edema and respiratory distress immediately after birth. Plain radiography revealed progressive abdominal distension and pneumoperitoneum. The baby subsequently underwent surgery at the age of one day. A perforation of the upper jejunum, which had resulted in meconium peritonitis, was discovered intraoperatively and the perforated section of the intestine was resected and anastomosed successfully. The postoperative course was uneventful. Pathological examination confirmed that the perforation was caused by rupture of a congenital fibrosarcoma originating from the jejunum. Rupture of a malignant tumor is an extremely rare cause of peritonitis in the fetus and neonate.

Female↗
PubMed2004

Fetal cells in maternal blood: a six-fold increase in women who have undergone amniocentesis and carry a fetus with Down syndrome: a multicenter study.

Fetal nucleated red blood cells (FNRBCs) circulate in the maternal blood throughout pregnancy. Even if the frequency of fetal cells in the maternal circulation remains to be ascertained, complications of pregnancy such as fetal cells aneuploidies, preeclampsia, abnormal Doppler of the uterine artery without symptoms of preeclampsia, fetal growth restriction and polyhydramnios are associated with an increased feto-maternal trafficking. Based on these observations, previous studies have suggested that determination of the fetal nucleated red blood cell count (FNRBCC) might be a useful non-invasive screening test, either alone or in combination with existing maternal tests, for the non-invasive assessment of aneuploidies, in particular Down syndrome (DS). In this paper we have evaluated the distribution of FNRBCC in a set of 18 normal pregnancies and 18 pregnancies with a trisomy 21-affected fetus, matching for gestational age, maternal age, and, when possible, fetal gender, in order to quantify the difference in the number of fetal cells between the two populations. Maternal blood was collected from each pregnant woman two to three weeks after amniocentesis after knowing the cytogenetic results. Correlation of FNRBCC with the gestational week and clinical status (affected vs. non affected) by multiple regression analysis provided significant results (p < 0.001). Adjusted values of FNRBCC were 48 +/- 10.2 in controls and 301 +/- 17.01 in DS cases, corresponding to a 6.27 fold increase. These retrospective results prompt a prospective evaluation of the use of FNRBCC for screening purposes.

Adult↗
PubMed2006

Grandmultiparas in modern obstetrics.

The objective of this study was to compare incidence of antenatal and intrapartum complications among women who had previously delivered five or more times (grandmultiparas cases, 155) with that of age-matched women with two to three previous deliveries (multiparas controls, 155) from 1998 to 2003. Grandmultiparity was associated with a low socioeconomic status, higher incidence of smoking, and a higher body mass index. Grandmultiparas had approximately 2-fold increased risk of gestational diabetes, hypertensive disorders, malpresentation, and preterm delivery, and a 3-fold increased risk of abruption; none reached statistical significance. No significant differences were found in antepartum hemorrhage, anemia, postdatism, polyhydramnios, or placenta previa. Intrapartum complications (labor induction, nonreassuring fetal heart, primary cesarean delivery, and intrapartum fever) were similar; however, operative vaginal delivery was significantly lower in grandmultiparas cases. Both groups were similar regarding birthweight, macrosomia, intrauterine growth restriction, Apgar scores, and stillbirth rates. Our study shows a trend toward an increased risk of adverse obstetrical outcome in grandmultiparas compared with multiparas independent of maternal age.

Adult↗
PubMed2006

Relationship between maternal and fetal plasma glucose and insulin concentrations during graded maternal hyperglycemic states in primates.

Our goal was to conduct a controlled study using an established timed-pregnant baboon model to describe the maternal and fetal plasma glucose and insulin concentrations during graded increases in maternal circulating glucose levels. Timed-pregnant baboons were operated on during the second half of pregnancy, and after recovery from surgery, maternal glucose infusions were started. To determine changes in plasma glucose and insulin concentrations, maternal and fetal blood samples were obtained before glucose infusion and at 30-minute intervals to include 30 minutes postinfusion. Maternal plasma glucose concentrations ranged from 97 to 392 mg/dL and fetal plasma glucose concentrations from 78 to 278 mg/dL. Maternal plasma insulin concentrations ranged from 123 to 1384 U/mL, and the fetal plasma insulin concentrations from 76 to 260 U/mL. Significant correlations were noted between maternal plasma glucose and insulin concentrations (N = 10; R(2), 80%; P < 0.001), as well as maternal and fetal plasma glucose concentrations (N = 10; R(2), 97%; P < 0.001). Maternal-to-fetal glucose gradient ranged from 16 to 34% (mean, 23%) and did not correlate with maternal plasma glucose concentration. No correlation was found between fetal plasma glucose and insulin concentration. Maternal-to-fetal insulin gradient ranged from 31 to 87% (mean, 70.7%) and was significantly different from the glucose gradient ( P < 0.0001). Results from this study suggests that (1) there is a relatively steady transplacental glucose transfer during the second half of pregnancy at maternal plasma glucose concentrations ranging from 97 to 392 mg/dL; and (2) there is also a relative incapacity of the fetal pancreas, compared with the maternal pancreas, to respond to graded increases of hyperglycemia. Studies aimed at determining whether particular thresholds of maternal hyperglycemia at different gestational ages can lead to transitory hyperosmolar and polyuric fetal states could provide further insights into the mechanisms leading to idiopathic polyhydramnios.

Animals↗
PubMed1996

-Interruption of umbilical blood flow in an acardiac twin by endoscopic laser coagulation-.

We report on the successful intrauterine surgical treatment of a twin pregnancy with an acardiac fetus. At 18 weeks of gestation the patient presented with polyhydramnios and a hydropic acardius acephalus and the donor twin showed signs of congestive heart failure. Colour Doppler ultrasound allowed localisation of the communicating vessels running on the placental surface towards the umbilicus of the acardiac twin. At 20 weeks we performed endoscopic laser coagulation of the umbilical vessels of the acardiac twin. A sheath (9.8 Charriere) with a 1.9 mm diameter rigid fetoscope (field of vision 60 degrees) was introduced percutaneously under local anesthesia into the amniotic cavity of the "pump" twin. Under sonographic control the fetoscope was directed towards the communicating vessels on the placental surface. A Nd-YAG laser (0.4 mm diameter fiber) was used to coagulate two vessels, artery and vein, until interruption of the reversed arterial perfusion was accomplished. Tricuspid regurgitation of the normal twin disappeared throughout the following two weeks and no further complications occurred throughout pregnancy. At 39 weeks a healthy girl was delivered vaginally. No at the age of 3 months she is developing normally. Minimal invasive endoscopic laser coagulation of the umbilical vessels of the acardiac twin appears to be the optimal currently available treatment for the normal twin, for which otherwise a high mortality ( > 50%) and morbidity must be expected.

Endoscopes↗
PubMed1995

[Indirect transplacental therapy of the fetus].

UNLABELLED: The paper is a review on the actual possibilities and indications of the transplacentar therapy of the fetus. At first some principles of the pharmacodynamics of the materno-placento-fetal unit are explained in order to enable an effective drug administration and reach therapeutic levels in the fetus. Common and less common diseases of the fetus and their therapy are exposed, such as the acceleration of lung maturation with corticosteroids, the cardioversion of tachycardias with digoxin and other antiarrhythmic drugs, the therapy of toxoplasmosis with pyrimethamine, the treatment of polyhydramnios using indomethacin, the therapy of very rare inborn errors of metabolism, the therapy of thrombocytopenia and the prevention of neural tube defects by folic acid supplementation. For these diseases the pathophysiologic background, the therapy rationale and possible side effects of therapy were exposed. Prior to an intrauterine therapy the perinatologist has to ask himself the 5 "W"- QUESTIONS: Which fetus to treat? Why to treat? When to treat? Who will treat? Way of treatment?

Congenital Abnormalities↗