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PubMed2004

Risk factors predisposing to abruptio placentae. Maternal and fetal outcome.

OBJECTIVE: Abruptio placentae is one of the leading causes of perinatal deaths. Abruptio placentae increase the neonatal morbidity and mortality. It is one of the recognized causes of low birth weight. The purpose of this study was to examine the risk factors for abruptio placentae together with the maternal and fetal outcome in a large population based data set. METHODS: All cases of abruptio placentae presented to the Department of Obstetrics, Wad Medani Teaching Hospital, Sudan during the period January 1997 through to December 2002 were collected. All infants born to those cases were also collected and analyzed as live birth or stillbirth. The live born infants were followed for one month to detect the neonatal deaths. The study also aimed to determine the predisposing factors for abruptio placentae. The study was designed as a case control study from live, singleton births and singleton fetal death. RESULTS: The total number of abruptio placentae collected during this period was 1028, while the total number of births during the same period was 15620 giving and incidence of 1028/15620 (6.5%) for abruptio placentae. The combined stillbirths and first month deaths were 20.2%. Abruptio placentae was associated with pre-eclampsia, diabetes, polyhydramnios and hypertension. Parity and maternal age were not associated with an increased incidence of abruption placentae. CONCLUSION: This study had the advantage of complete ascertainment of all reported cases of abruptio placentae during a period of 6-years. We found an increased risk for abruptio placentae associated with maternal diabetes, hypertension, pre-eclampsia and polyhydramnios. We found that infants born after abruptio placentae were small for gestational age and had lower Apgar scores than the control infants. The possibility of abruptio placentae should be considered by the clinician when managing pregnant women with any of those characteristics. Abruptio placentae should be managed in centers were there is advanced maternal and neonatal facilities.

Abruptio Placentae↗
PubMed1991

[Use of indomethacin in the therapy of poly-hydramnios. Description and comments on a case].

The Authors report their experience of two pregnancies complicated by polyhydramnios, treated with indomethacin (100 mg/day for 10 and 7 days respectively). The outcome of both pregnancies was foetal intrauterine death. The absence of foetal anomalies incompatible with life and the presence of tissue lesions by asphyxia led the Authors to think that indomethacin might have had a determinant role in the foetal death. This study suggests that the use of indomethacin in polyhydramnios is questionable.

Adult↗
PubMed1976

[Clinical significance of hydramnios from the view point of current medicine].

In the period from 1.1. 1970 to 31.3 1975 we found under 11876 deliveries in 56 cases polyhydramnios (= 0,47%). Deformities by the newborns we have had in 8,9%! A timely observation and therapy of the polyhydramnios are able to diminish the risk for mother and child. The therapy of choise is a frequently transbdominal amniocentesis after localization of the placenta. A partus praematurus we could'nt avoid generally. An compulsory fetal monitoring of this patients is necessary, because many of this deliveries are high-risk deliveries.

Amniocentesis↗
PubMed1993

Severe prenatal infantile cortical hyperostosis (Caffey's disease).

We describe three cases of prenatal infantile cortical hyperostosis (Caffey's disease) from two families, all associated with maternal polyhydramnios. Case 1 (family 1) was an early early neonatal death after delivery at 27 weeks gestation, case 2 (family 2) an intrauterine death at 33 weeks. Case 3 (family 2) had limited skeletal involvement and followed a course typical for Caffey's disease. Only six cases of prenatal Caffey's disease with extensive skeletal involvement have previously been described. Polyhydramnios was reported in all but one and the condition was lethal unless pregnancy reached term. To our knowledge cases 2 and 3 reported here represent the first description of Caffey's disease in which the prenatal lethal form was not sporadic.

Bone and Bones↗
PubMed1993

[3 examples of fetal genetic neuromuscular disorders which lead to hydramnion].

Causes of polyhydramnios include foetal neuromuscular disorders which cause inability of the foetus to swallow amniotic fluid. Three examples of such disorders are presented: X-linked myotubular myopathy, congenital myotonic dystrophy, and congenital nemaline myopathy. It is concluded that in case of polyhydramnios a search for foetal neuromuscular disease should be carried out. This implies ultrasound evaluation of the foetal movements, especially swallowing movements, neurological examination of the mother for myotonic dystrophy and examination of the newborn, which in selected cases includes muscle biopsy. Foetal neuromuscular disorders are usually genetic in origin. This adds to the need for accurate diagnosis and proper genetic counseling.

Genetic Linkage↗
PubMed2005

Global gene expression analysis of the living human fetus using cell-free messenger RNA in amniotic fluid.

CONTEXT: No molecular biological tests are available to monitor the ongoing development of human fetuses in vivo. OBJECTIVE: To determine whether cell-free fetal messenger RNA (mRNA) in amniotic fluid can be detected using oligonucleotide microarrays to study large-scale gene expression in living human fetuses, with analysis of sex, gestational age, and fetal pathology as variables. DESIGN, SETTING, AND PATIENTS: Four samples of cell-free amniotic fluid were analyzed from pregnant women between 20 and 32 weeks' gestation and undergoing amnioreduction for polyhydramnios associated with twin-twin transfusion syndrome or hydrops fetalis (cases). The control consisted of 6 pooled amniotic fluid samples from women at 17 weeks' gestation and undergoing genetic amniocentesis. After extraction from the normally discarded fraction of amniotic fluid, RNA was amplified twice, labeled, and analyzed using gene expression microarrays. MAIN OUTCOME MEASURE: Relative mRNA expression in cell-free samples of amniotic fluid from fetuses with polyhydramnios at different gestational ages vs cell-free amniotic fluid from a pooled control. RESULTS: Thirty-six percent of 22,283 probe sets represented on the arrays were present in the cell-free amniotic fluid, and a median of 20% of all probe sets differed between cases and the pooled control. Only male samples expressed 1 Y chromosome transcript. The expression of some developmental transcripts, such as surfactant proteins, mucins, and keratins, changed with gestational age by up to 64-fold. A water transporter gene transcript was increased up to 18-fold in both twin-twin transfusion samples. Placental gene transcripts were not present in any samples. CONCLUSIONS: This pilot study demonstrates that cell-free fetal mRNA can be extracted from amniotic fluid and successfully hybridized to gene expression microarrays. Preliminary analysis suggests that gene expression changes can be detected in fetuses of different sexes, gestational age, and disease status. Cell-free mRNA in amniotic fluid appears to originate from the fetus and not the placenta.

Amniocentesis↗
PubMed1998

Correlates of prenatal visceromegaly.

Aside from recognized overgrowth syndromes, instances of visceromegaly are not uncommon at perinatal autopsy. The database of the University of Michigan Teratology Unit was screened for individual viscera exceeding the 90th centile for body and brain weight standards. The data were stratified for several maternal (hypertension, diabetes, obesity), gestational (chorioamnionitis, oligohydramnios, amniorrhaea, polyhydramnios), and fetal (body wall defect, cardiac malformation, renal malformation, diaphragmatic hernia, nonimmune hydrops, twin transfusion syndrome) characteristics and tested for statistically significant excessive numbers of heavy organs. The most striking associations were heavy adrenal glands and liver with chorioamnionitis, heavy heart with polyhydramnios and in the twin transfusion syndrome, and heavy heart and liver with nonimmune hydrops. Excessive brain weight for body weight had a number of correlations, each most likely reflecting growth restriction with sparing of brain growth.

Autopsy↗
PubMed2000

Prenatal diagnosis of pyloric atresia-junctional epidermolysis bullosa syndrome in a fetus not known to be at risk.

Junctional epidermolysis bullosa with pyloric atresia (PA-JEB) is a highly lethal, inherited, autosomal recessive disease. Thus far, prenatal diagnosis of this syndrome was only realized on pregnancies at risk for recurrence. We report the case of a 26-year-old woman, first cousin to her husband, who had undergone amniocentesis for polyhydramnios. The karyotype was normal but the amniotic fluid contained acetylcholinesterase. A targeted scan at 25 weeks' gestation did not find spina bifida, but polyhydramnios with a dilated stomach, and several other anomalies: echogenic particles in the amniotic fluid, a thin skin which closely adhered to the nasal bones, narrow nostrils, abnormal ears, fisted hands, malposition of both first toes, and kidney malformation. Despite no previous case in the family, it was thought that sonographic findings were suggestive of the PA-JEB syndrome. A fetal skin biopsy was carried out at 28 weeks' gestation. The ultrastructural examination of fetal skin displayed JEB. Genetic analysis detected a homozygous mutation in the gene encoding integrin alpha 6. Termination of pregnancy was carried out at 29 weeks' gestation. These results illustrate that in the case of a fetus not known to be at risk, diagnosis of PA-JEB can be achieved by ultrasound findings leading to fetal skin biopsy and ultrastructural examination of blistered epidermis. Some new sonographic signs should raise the possibility of significant cutaneous desquamation and blister formation in a fetus, especially when there is positive amniotic acetylcholinesterase coupled with elevated alpha-fetoprotein or suspected pyloric atresia.

Abnormalities, Multiple↗
PubMed2000

Prognostic factors associated with congenital cystic adenomatoid malformation of the lung.

This study presents 18 cases of prenatally diagnosed congenital cystic adenomatoid malformation (CCAM) to identify potential factors that could predict prognosis. Comparisons of prenatal parameters were made between fetuses that survived and those that died perinatally. It was found that microcystic lesion, bilateral lung involvement and hydrops were each highly correlated with poor prognosis, while neither polyhydramnios nor mediastinal shift was significantly associated with had outcome. Fetal interventions were indicated only in two of the surviving cases: a thoracocentesis and a cysto-amniotic shunt. A therapeutic amniocentesis was performed in one case of polyhydramnios. The diagnosis of CCAM was histologically confirmed in all cases by necropsy or by postnatal lobectomy.

Cystic Adenomatoid Malformation of Lung, Congenita↗
PubMed1987

A case of the Neu-Laxova syndrome: prenatal ultrasonographic monitoring in the third trimester and the histopathological findings.

A diagnosis of the Neu-Laxova syndrome was made by ultrasonography in the third trimester of pregnancy. Initial ultrasonographic examination, at approximately 28 wk gestation, showed intrauterine growth retardation (IUGR), hypoechoic skeletal structures, kyphosis, feeble fetal activity, and restricted limb movement. Subsequent sonograms showed microcephaly with a receding forehead and prominent eyes, generalised edema and flexion deformities of limbs. Late third trimester findings included polyhydramnios, swelling and webbing of the knee and elbow joints, and severe edema of the hands and feet, giving the impression of absent digits. The clinical features of this case are consistent with group II of Curry's classification of the Neu-Laxova syndrome [Curry, 1982]. The histopathological findings, a triad of dermatological features, poor cortex formation of the long bones, and central nervous system (CNS) dysgenesis, are discussed. In view of the 25% recurrence rate, at risk pregnancies should be carefully monitored by ultrasonography: at 6-8 wk for accurate dating, at 12-16 weeks for active fetal limb movement, and at 16-24 wk for facial and skeletal anomalies, the detection of IUGR, and polyhydramnios.

Abnormalities, Multiple↗
PubMed2006

Prenatal diagnostic indicators of paternal uniparental disomy 14.

OBJECTIVES: To present clinical findings of a child with paternal uniparental isodisomy 14 (pat UPD14) focusing on relevant prenatal characteristics. METHODS/RESULTS: Ultrasonography at 23 weeks of gestation of a 37-year-old multigravid woman revealed a fetus with polyhydramnios, small thorax, and short, distinctively angled ribs. Fetal karyotype was 46,XY. The child was born spontaneously at 35 weeks with poor neonatal adaptation. From birth, he presented with severe respiratory insufficiency due to severe thoracic malformation. Clinical examination revealed a small, bell-shaped thorax, redundant lax skin, mild contractures of the fingers and dysmorphic facial features. Chest X rays showed short, abnormally curved ribs that suggested the possibility of pat UPD14, which was confirmed by molecular analysis. CONCLUSION: Pat UPD14 is associated with a distinct clinical phenotype. Prognosis is poor because of severe respiratory insufficiency and neurodevelopmental retardation. Our report confirms salient postnatal signs of previous descriptions, especially the characteristic radiological abnormalities with ribs showing a 'coat-hanger' configuration. Retrospective fetal ultrasound of our case allowed the identification of this pathognomonic feature prenatally, which makes it possible to consider pat UPD14 at routine prenatal sonography, in particular in combination with a small bell-shaped thorax and polyhydramnios.

Abnormalities, Multiple↗
PubMed1993

Prenatal diagnosis of gastrointestinal obstruction: a correlation between prenatal ultrasonic findings and postnatal operative findings.

The impact of prenatal sonographic diagnosis of oesophageal and gastrointestinal obstructions has been analysed over a 10-year period. Three groups of patients were evaluated. The first group consisted of 46 newborns with abnormal prenatal sonograms, 41 of which were confirmed to have intestinal obstruction postnatally. The second group consisted of 17 neonates with normal prenatal sonograms who had intestinal obstruction postnatally. The third group included 56 newborns who did not undergo a prenatal sonogram but who had intestinal obstruction confirmed at surgery. Polyhydramnios without the appearance of a stomach on ultrasound was diagnostic of pure oesophageal atresia. Polyhydramnios with intestinal dilation was diagnostic of intestinal obstruction. Although surgery was performed earlier in the infants diagnosed prenatally with ultrasound, mortality was no less than in the group that did not undergo a prenatal sonogram, probably because of the high incidence of associated anomalies.

Esophageal Diseases↗
PubMed2003

Fetal karyotyping after 28 weeks of gestation for late ultrasound findings in a low risk population.

OBJECTIVE: To analyze the indications and the results of invasive testing for fetal karyotyping for ultrasound abnormality in the third trimester of pregnancy, when first- and second-trimester screening tests were negative. METHODS: Retrospective study of 171 consecutive pregnancies that underwent invasive testing after 28 weeks of gestation in 2 institutions between January 1999 and December 2001. Forty-one patients did not have any form of screening for fetal aneuploidy beforehand. One hundred and thirty of them had a normal first-trimester scan and a low risk of fetal aneuploidy by nuchal translucency and/or maternal serum screening and were included in the statistical analysis. RESULTS: Mean maternal age, gestational age at diagnosis and at invasive testing were 30.5 years; 29.3 weeks and 32.5 weeks respectively. Amniocentesis and fetal blood sampling were performed in 97 and 33 cases respectively. The most frequent indications for invasive testing in the third trimester were major fetal malformations (51%) and intrauterine growth restriction (19%) detected on routine second- or third-trimester ultrasound examination. Ultrasound markers of aneuploidy and polyhydramnios accounted for 17 and 11% of the indications respectively. Fetal karyotype was normal in 121/130 cases. A gene mutation was found in one case. The karyotype was abnormal in nine cases, including seven cases of aneuploidy (one Turner syndrome, three trisomy 18, and three trisomy 21) and two cases of structural chromosomal abnormalities (46,XX, del 4 p16.1 and 46,XX, dup1). One hundred cases resulted in the delivery of a normal baby. Thirty cases led to termination of pregnancy or intrauterine death due to major fetal malformations (N = 25), abnormal karyotype in six of these, and severe IUGR (N = 5) with normal karyotype. Fetal US markers of aneuploidy and isolated polyhydramnios were associated with a favorable outcome in all cases.A significant increase in the risk of chromosomal anomaly was seen when two or more anomalies were found, rising from 2% with one anomaly to 21% when two or more anomalies were present. CONCLUSION: In low risk patients, fetal karyotyping in the third trimester may be justified when the diagnosis of fetal malformation is made in the third trimester of pregnancy. Two or more anomalies increase the risk of fetal aneuploidy even with a negative-screening test in the first and second trimester of pregnancy.

Abnormalities, Multiple↗
PubMed2003

Congenital chylothorax: a case report.

A case of unilateral congenital hydrothorax diagnosed at 21 weeks and treated with a pleuro-amniotic shunt at 23 weeks' gestation is presented. The rapid production of pleural fluid led to the development of polyhydramnios which was treated with a selective Cox inhibitor. Due to worsening of the hydrothorax, a third thoracocentesis was performed at 30 weeks' gestation prior to a Cesarean section. The neonate responded well to mechanical ventilation, a thoracic drainer that was inserted between days 5 and 14, fluid and protein replacement and gradual transition from parenteral to intestinal nutrition. Early diagnosis of chylothorax should be treated by thoraco-amniotic drainage to prevent fetal pulmonary hypoplasia and congestive cardiac failure. Polyhydramnios is a complication of this therapy and may require treatment with a Cox inhibitor.

Adult↗
PubMed2005

Prenatal diagnosis of fetal bilateral adrenal carcinoma.

Fetal malignancies that are capable of metastasizing to other fetal organs and the placenta are exceedingly rare. Fetal tumors are suspected on ultrasonography in the presence of structures of abnormal shape or size that are occasionally associated with polyhydramnios and hydrops. Most of the large abdominal masses detected antenatally are renal in origin, although adrenal tumors should also be kept in mind in their differential diagnosis. We report a case of a large-for-gestational-age fetus with abdominal distention secondary to bilateral adrenal carcinoma, polyhydramnios and placental enlargement. Postmortem histological findings included nesidioblastosis, (i.e. hyperplasia of the cells of the islets of Langerhans) and adrenocortical cytomegaly, suggestive of a form of Beckwith-Wiedemann syndrome.

Abortion, Spontaneous↗
PubMed2006

Risk factors and perinatal outcomes associated with umbilical cord prolapse.

OBJECTIVE: To utilize infant outcomes and to identify risk factors associated with umbilical cord prolapse. MATERIALS AND METHODS: Birth records of 80 cases with umbilical cord prolapse and 800 randomly selected controls were reviewed retrospectively. Statistical analysis was performed using logistic regression models. RESULTS: Prolapse of the umbilical cord complicated 0.47% (n=80) of all deliveries included in the study (n=16,874). Multiparity was more common in patients with umbilical cord prolapse (63.8-49.4%, P=0.014). Umbilical cord prolapse occurred in breech presentation in six cases (7.5%) and in transverse presentation in three of the cases (3.8%). The occurrence of breech presentation among the control cases was 1.0% and of the transverse lie was 0.1% (P<0.001). Fetuses with umbilical cord prolapse had lower fetal weight; particularly, fetal weight less than 2,500 g was a significant risk factor (3-2.4%, P<0.001). We also found that spontaneous rupture of membranes (OR=8.93; 95%, CI=4.16-19.14), Bishop score greater than 8 (OR=5.48; 95%, CI=3.21-9.34), and polyhydramnios (OR=21.0; 95%, CI=11.4-38.7) were risk factors for umbilical cord prolapse. The newborns that were delivered after umbilical cord prolapse graded lower Apgar scores less than 7 at 5 min (6.3-1.4%, P=0.002). CONCLUSION: Abnormal fetal presentation, multiparity, low birth weight, prematurity, polyhydramnios, and spontaneous rupture of membranes, in particular with high Bishop scores, are risk factors for umbilical cord prolapse. Early amniotomy increases the variable decelerations and hence increases the rate of cesarean section because of fetal distress, but it may prevent pregnant women from umbilical cord prolapse, which has a high mortality rate. However, large randomized trials are needed to prove that early amniotomy decreases the incidences of umbilical cord prolapse.

Adult↗
PubMed2002

Pontocerebellar hypoplasia type 2: further clinical characterization and evidence of positive response of dyskinesia to levodopa.

Pontocerebellar hypoplasia type 2 (PCH2) is a very rare autosomal recessive disorder. We report two unrelated female patients born to consanguineous parents presenting with this condition. Patient 1 showed a classical clinical/neuroradiological phenotype of PCH2 with dyskinesia/dystonia. Patient 2 had a neonatal onset of PCH2 with polyhydramnios, apneic spells, myoclonus, and an akinetic/rigidity condition. Neuroradiologically, patient 2 showed extensive pancerebral degeneration. Based on these observations, and in accordance with the published cases, two groups of PCH2 patients may be defined: (a) patients with dyskinesia/dystonia, severe hypoplasia of the infratentorial structures and less severe involvement of the supratentorial brain; and (b) patients with polyhydramnios, neonatal onset with tremulousness (hyperekplexia), no spontaneous activity, absence of dyskinesia and pancerebral degeneration. Finally, we report a dramatic positive response of the patient with dyskinesia/dystonia to levodopa treatment, and discuss the associated physiopathological implications.

Cerebellum↗
PubMed2000

Bartter syndrome in a neonate: early treatment with indomethacin.

The neonatal form of Bartter syndrome is characterized by intrauterine onset of polyuria leading to severe polyhydramnios. We report a patient with the early onset of the syndrome and a similar history in a previous sibling who died in early neonatal life. The patient is a female product of 33 weeks of gestation complicated by severe polyhydramnios. Her birth weight was 2,100 g. Polyuria led to severe dehydration on the 3rd day of life. Laboratory studies showed hypokalemia, hyponatremia, and elevated plasma levels of renin and aldosterone. Hypercalciuria was associated with echographic evidence of nephrocalcinosis. Indomethacin therapy resulted in a significant reduction in urine volume and correction of biochemical abnormalities. Growth and development are satisfactory after 4 years of indomethacin therapy, but nephrocalcinosis remains unchanged.

Anti-Inflammatory Agents, Non-Steroidal↗