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PubMed1980

Maternal ultrasonography in the antenatal diagnosis of surgically correctable fetal abnormalities.

The diagnoses of duodenal atresia, meconium peritonitis with atresia, "giant" omphalocele and twisted ovarian cyst were made by maternal ultrasonography in 6 cases, between the 31st and 34th wk of gestation. The indications for ultrasonography included polyhydramnios in 4 and placental bleeding and determination of fetal position in the other 2. The mothers were referred to a regional surgical center for delivery and all babies underwent operative correction within the first 12 hr of life. Early operation was felt to be essential to their survival and the importance of maternal ultrasonography in the "high-risk" pregnancy is emphasized.

Congenital Abnormalities↗
PubMed1996

Experimental ureterohydronephrosis in fetal rats.

This study tests the hypothesis that prenatal exposure to 2,4-dichlorophenyl-p-nitrophenyl ether (nitrofen), an herbicide known to induce pulmonary hypoplasia and other malformations in fetal rats, also may induce ureterohydronephrosis (UHN) and oligohydramnios. Time-dated pregnant Wistar rats were given 100 mg of the chemical on day 9 or 11 of gestation, and the findings in their fetuses were compared with those of suitable controls. Marked bilateral UHN was found in the majority of exposed fetuses, but without evidence of either mechanical obstruction or dysplastic parenchymal lesions. These animals had various degrees of lung hypoplasia. The amount of fluid in their amniotic sacs was increased rather than decreased and it was independent of lung weight but correlated to some extent with UHN grade. Urinary tract dilatation and polyhydramnios in this model most likely are attributable to polyuria caused by nitrofen-induced impairment of renal concentrating capacity. This relatively simple animal model might facilitate research into some aspects of the physiology of nonobstructive, prenatally dilated urinary tracts.

Animals↗
PubMed1999

Fetal midgut volvulus presenting at term.

This report describes a rare case of intrauterine midgut volvulus that presented at term. The pregnancy was uncomplicated. There were no signs of fetal distress or polyhydramnios, and the child was delivered vaginally. This patient had the unusual presentation in that at the time of delivery, the patient was distended and acidotic. She immediately required an extensive resection of gangrenous small bowel. Comparing this case to the 10 other cases of fetal intestinal volvulus that have been reported, it seems this child was particularly fortunate that the volvulus occurred at a point in gestation when she was mature enough to tolerate birth and surgery. This case is also the first demonstration that volvulus can present with abdominal distension in the immediate newborn period.

Delivery, Obstetric↗
PubMed1992

Use of calcium excretion values to distinguish two forms of primary renal tubular hypokalemic alkalosis: Bartter and Gitelman syndromes.

Clinical or biochemical findings were reevaluated in 34 pediatric patients with primary renal tubular hypokalemic metabolic alkalosis. The patients were subdivided into two groups. Bartter syndrome (primary renal tubular hypokalemic metabolic alkalosis with normocalciuria or hypercalciuria) was diagnosed in 18 patients with molar urinary calcium/creatinine ratios greater than 0.20, and Gitelman syndrome (primary renal tubular hypokalemic metabolic alkalosis with magnesium deficiency and hypocalciuria) was diagnosed in 16 patients with molar urinary calcium/creatinine ratios less than or equal to 0.20 and plasma magnesium levels less than 0.75 mmol/L. Some clinically important differences between the groups were observed. Patients with Bartter syndrome were often born after pregnancies complicated by polyhydramnios (8/18) or premature delivery (7/18) and had short stature (11/18) or polyuria, polydipsia, and a tendency to dehydration (16/18) during infancy (12/18) or before school age (18/18). Patients with Gitelman syndrome had tetanic episodes (12/16) or short stature (3/16) at school age (14/16). We conclude that the Bartter and Gitelman syndromes represent two distinct variants of primary renal tubular hypokalemic metabolic alkalosis and are easily distinguished on the basis of urinary calcium levels.

Alkalosis↗
PubMed1985

Congenital hypokalemia with hypercalciuria in preterm infants: a hyperprostaglandinuric tubular syndrome different from Bartter syndrome.

A congenital hypokalemic tubular disorder is described with many features resembling Bartter syndrome. Additional features include prenatal onset with polyhydramnios and premature labor; failure to thrive; episodes of fever, vomiting, diarrhea, and renal electrolyte and water wastage; hypercalciuria; nephrocalcinosis; and osteopenia. Unlike Bartter syndrome, there is no defect in tubular reabsorption of chloride. Urinary levels of prostaglandin E2 and 7 alpha-hydroxy-5,11-diketotetranorprosta-1,16-dioic acid are selectively elevated, indicating marked stimulation of renal and systemic PGE2 production. Chronic suppression of PGE2 activity by indomethacin corrects most of the abnormalities, and there is an immediate decompensation of the disease on indomethacin withdrawal. We conclude that these preterm infants have a distinct variety of hypokalemic tubular disorders rather than a variant of Bartter syndrome, because renal and systemic hyperprostaglandinism ranks high in the pathogenic chain of events, and the suppression of PGE2 hyperactivity is associated with significant improvement in the development (and probably in the prognosis) of the affected children.

Bartter Syndrome↗
PubMed1996

Impaired response to furosemide in hyperprostaglandin E syndrome: evidence for a tubular defect in the loop of Henle.

In hyperprostaglandin E syndrome (HPS) renal wasting of electrolytes and water is consistently associated with enhanced synthesis of prostaglandin E2. In contrast to Bartter or Gitelman syndrome (BS/GS), HPS is characterized by its severe prenatal manifestation, leading to fetal polyuria, development of polyhydramnios, and premature birth. This disorder mimics furosemide treatment with hypokalemic alkalosis, hypochloremia, isosthenuria, and impaired renal conservation of both calcium and magnesium. Therefore the thick ascending limb of the loop of Henle seems to be involved in HPS. To characterize the tubular defect we investigated the response to furosemide (2 mg/kg) in HPS (n = 8) and BS/GS (n = 3) 1 week after discontinuation of long-term indomethacin treatment. Sensitivity to furosemide was completely maintained in patients with BS/GS. The diuretic, saluretic, and hormonal responses were similar to those of a control group of healthy children (n = 13), indicating an intact function of the thick ascending limb of the loop of Henle in BS/GS. In contrast, patients with HPS had a marked resistance to this loop diuretic. Furosemide treatment increased urine output by 7.5 +/- 0.7 ml/kg per hour in healthy control subjects but only by 4.4 +/- 1.2 ml/kg per hour (p < 0.5) in children with HPS. In parallel, the latter also had a markedly impaired saluretic response (delta Cl(urine) 0.14 +/- 0.04 mmol/kg per hour vs 0.85 +/- 0.09 mmol/kg per hour, p < 0.001; delta Na(urine) 0.23 +/- 0.06 mmol/kg per hour vs 0.77 +/- 0.09 mmol/kg per hour, p < 0.001). Furosemide therapy further enhanced prostaglandin E2 excretion in patients with HPS (54 +/- 17 to 107 +/- 28 ng/hr per 1.73 m2, p < 0.05), whereas no significant effect was observed in healthy children (20 +/- 3 to 12 +/- 3 ng/hr per 1.73 m2). We conclude that a defect of electrolyte reabsorption in the thick ascending limb of the loop of Henle plays a major role in HPS.

Bartter Syndrome↗
PubMed1998

Centronuclear myopathy: clinical aspects of ten Brazilian patients with childhood onset.

We herein present 10 patients with the childhood onset form of centronuclear myopathy. All patients underwent a clinical and neurologic examination, and EMG/NVC. A series of ancillary examinations, consisting of muscle enzymes, EEG, EKG, echocardiogram, pulmonary function tests and head CT scan was done in most. The mean age was 16.3 years (3-25). Seven were female. There was no family history in seven and in two it was suggestive of an autosomal recessive inheritance. One patient was adopted and no history was available. Frequent gestational and neonatal abnormalities were present, namely poor fetal movements, maternal polyhydramnios, perinatal hypoxia, hypotonia at birth, and weak crying and feeding. In seven patients there was delayed motor milestones. In most patients the motor involvement was stable or slowly progressive. Upon examination the facies were myopathic and there was a global skeletal muscle involvement in all patients, with muscular hypotonia, atrophy, and areflexia. Characteristically, patients presented with ophthalmoparesis, and weakness of masticatory and facial muscles. We frequently found osteoskeletal abnormalities, namely kyphoscoliosis, tendon retractions and high-arched palate. A restrictive pulmonary function pattern was found in five patients, but only one had a cor pulmonale. CK was abnormally high in one patient, and normal in all others. EMG/NVC disclosed a myopathic pattern in nine; in three there was a mixed neurogenic picture; and in one we found myotonic discharges. A long follow-up (median 8.1 years) showed that only the patient with cor pulmonale had an unfavorable prognosis.

Adolescent↗
PubMed2000

Acardiac twin pregnancy with neonatal resolution of donor twin cardiomyopathy.

BACKGROUND: Twin reverse arterial perfusion, as with acardiac fetuses, is a rare complication of multifetal pregnancy. Prognosis of the donor twin is guarded because of the high risk of cardiac failure, polyhydramnios, and preterm delivery. CASE: A 40-year-old woman, gravida 4, para 3, was diagnosed at 19 weeks' gestation with a twin pregnancy complicated by an acardiac, acephalic fetus. Serial amniocenteses were done to decompress the hydramnios between 27 and 33 weeks. Ultrasonography showed ventricular septal hypertrophy in the donor twin at 27 weeks, and cesarean delivery was done at 33 weeks. The neonatal course was complicated by hypertrophic cardiomyopathy, which resolved without sequelae by 1 year of age. CONCLUSION: Antenatal sonographic monitoring of interventricular septal thickness can be a useful marker to predict neonatal cardiac sequelae.

Adult↗
PubMed2002

Congenital malignant extrarenal rhabdoid tumor: prenatal ultrasound findings.

BACKGROUND: Congenital cancer is rare, and metastatic cancer of the infant at birth is even more unusual. Pregnancy management may be altered if fetal tumors are detected by prenatal ultrasound. CASE: We present a 29-week gestation with polyhydramnios and a fetus with a congenital malignant extrarenal rhabdoid tumor on the left neck and chest with generalized metastases. Cytogenetic analysis of the tumor cells revealed a trisomy 7. CONCLUSION: Prenatal ultrasound permits in utero detection of fetal tumors and identification of complications.

Chromosomes, Human, Pair 7↗
PubMed2003

Prenatal diagnosis of acrania associated with amniotic band syndrome.

BACKGROUND: The amniotic band syndrome is a collection of fetal malformations associated with fibrous bands that appear to entrap or entangle various fetal parts in utero and can affect any organ or system and cause a single or multiple anomalies. The anomaly, acrania, is characterized by partial or complete absence of the calvarium with abnormal brain tissue development. Literature reports association of amniotic band syndrome and acrania postnatally, but not diagnosed prenatally by ultrasound. CASE: A young woman, gravida 1, para 0, presented for an initial prenatal visit at 35 weeks' gestation and had a first ultrasound that showed a single intrauterine pregnancy at 36 weeks' gestation. This ultrasound also showed polyhydramnios, absence of or a very small cerebrum with either anencephaly or acrania. A targeted ultrasound scan was performed on the following day, which confirmed acrania in view of the fact that we did see an absence of the flat bones of the skull with a substantial amount of abnormal brain tissue present surrounded by a fetal membrane. The patient was counseled, and labor induction was scheduled with a male infant delivered weighing 1763 g after a spontaneous vaginal delivery. The infant was diagnosed with acrania, given supportive care, and died 11 hours later. CONCLUSION: Diagnosis of cranial bone defects can be established by ultrasound in the first trimester of pregnancy. The prenatal diagnosis of acrania associated with amniotic bands by transvaginal ultrasound was visualized in the third trimester in this case; therefore, appropriate counseling and treatment options were offered.

Adult↗
PubMed2003

Gestational diabetes mellitus and lesser degrees of pregnancy hyperglycemia: association with increased risk of spontaneous preterm birth.

OBJECTIVE: To investigate whether different degrees of maternal glucose intolerance are associated with the risk of spontaneous preterm birth. METHODS: We performed a cohort study of 46,230 pregnancies screened by a 50-g, 1-hour oral glucose tolerance test between 24 and 28 gestation weeks at the Northern California Kaiser Permanente Medical Care Program. Spontaneous preterm birth was defined as an infant born at less than 37 gestation weeks with at least one of the following: spontaneous labor, preterm premature rupture of membranes, or incompetent cervix. Glucose tolerance status was categorized as normal screening (1-hour plasma glucose less than 140 mg/dL), abnormal screening (1-hour plasma glucose of at least 140 mg/dL with a normal diagnostic 100-g, 3-hour oral glucose tolerance test result), Carpenter-Coustan (plasma glucose measurements during the diagnostic oral glucose tolerance test met the thresholds but were lower than the National Diabetes Data Group thresholds), and gestational diabetes mellitus (GDM) by the National Diabetes Data Group criteria. RESULTS: One thousand nine hundred fifty-six spontaneous preterm births occurred. Age-adjusted incidences of spontaneous preterm birth were 4.0% in normal screening, 5.0% in abnormal screening, 6.7% in Carpenter-Coustan, and 6.7% in GDM. In a logistic regression model adjusted for age, race-ethnicity, preeclampsia-eclampsia-pregnancy-induced hypertension, chronic hypertension, polyhydramnios, and birth weight for gestational age, pregnancies with abnormal screening, Carpenter-Coustan, and GDM had a significantly higher risk of spontaneous preterm birth than pregnancies with normal screening (relative risk [95% confidence interval]: 1.23 [1.08, 1.41], 1.53 [1.16, 2.03], and 1.42 [1.15-1.77], respectively). CONCLUSION: The risk of spontaneous preterm birth increased with increasing levels of pregnancy glycemia. This association was independent of perinatal complications that could have triggered early delivery.

Adult↗
PubMed1997

Pregnancy and delivery in a patient with mutilating dystrophic epidermolysis bullosa (Hallopeau-Siemens type).

BACKGROUND: Epidermolysis bullosa dystrophica of the mutilating Hallopeau-Siemens type is a rare inherited skin disease. Those afflicted have blisters and pronounced scarring of skin and mucous membranes after minor trauma. Pregnancies are very rare in affected women. CASE: A 24-year-old woman, gravida 1, with a severe form of the Hallopeau-Siemens type was monitored closely during pregnancy. The patient spontaneously delivered a healthy female neonate at term. Episiotomy wound healing was uncomplicated. Seven months later, she returned in her second pregnancy, which was complicated by mild anemia and polyhydramnios from possible gestational-onset diabetes mellitus. Again, vaginal delivery of a healthy neonate was performed at term. We did not observe pregnancy-induced exacerbations of the skin disease. CONCLUSION: Women with epidermolysis bullosa dystrophica of the Hallopeau-Siemens type may decide to have children after careful evaluation of the degree of impairment and a thorough explanation of the risks associated with pregnancy and delivery. Close monitoring of the pregnant patient is important. Vaginal delivery should be the first choice. Breast-feeding is difficult, but not contraindicated.

Adult↗
PubMed1999

Sonographic considerations with multiple gestation.

Determination of chorionicity is of paramount importance in risk assessment and management. Best performed in the first trimester, dichorionic placentation can be reliably assumed when the membrane is easily seen, there is a "twin peak" sign, there are clearly separate placentas, and there is discordant fetal gender. In a monochorionic twin pregnancy, there is a single placental mass, the dividing membrane is difficult to visualize until the end of the first trimester, and the membrane inserts onto the placental surface without a peaked appearance. Amniotic fluid volume assessment is important in the management of twin pregnancy. Polyhydramnios-oligohydramnios may be a manifestation of twin-twin transfusion syndrome, although oligohydramnios with normal amniotic fluid volume in the other twin's sac may more likely be a sign of velamentous cord insertion, infection, or chromosomal or structural abnormality. Fetal growth discordance is common in twin pregnancy and is associated with increased perinatal mortality and morbidity. The most sensitive indicator of discordant twin growth is thought to be estimated fetal weight, and an intertwin difference of > or = 20% is considered significant. In the clinical care of a patient with twins, it is reasonably standard to confirm chorionicity with ultrasonography in the first or early second trimester. At about 20 weeks, a level II ultrasound for anatomic survey is indicated. In dichorionic pregnancies, ultrasound examinations are then performed at 26 to 28 weeks and every 3 to 4 weeks thereafter to follow growth and amniotic fluid volume. In monochorionic twins, we generally do an additional ultrasound at about 23 to 24 weeks, because of the risk of twin-twin transfusion syndrome. In the late third trimester, careful attention should also be given to fetal position, to help with delivery planning.

Amnion↗
PubMed1988

Perinatal pulmonary hyperplasia due to laryngeal atresia.

A premature newborn boy, who died at birth because of cartilaginous laryngeal atresia, showed lung development that was far more advanced than normal for gestational age. The lungs, which were histologically normal, were three times the expected weight and showed a degree of alveolarization appropriate for 3 months' postnatal age. The lungs crowded the chest cavity so that the diaphragm was flattened and immobilized; the massive ascites, documented by ultrasound 5 weeks prior to delivery, appeared to be due to obstructed venous return. Thus, the pulmonary hyperplasia, a new finding in perinatal pathology, caused severe fetal ascites. Subsequently, the hyperplasia led to acute polyhydramnios that, ultrasonographically, was observed to develop 2 weeks prior to delivery. The observation that fetal lungs may be hyperplastic has a bearing on the known relationship between fetal lung growth and retention of lung fluid.

Ascites↗
PubMed2006

Amniotic-fluid embolism and medical induction of labour: a retrospective, population-based cohort study.

BACKGROUND: Amniotic-fluid embolism is a rare, but serious and often fatal maternal complication of delivery, of which the cause is unknown. We undertook an epidemiological study to investigate the association between amniotic-fluid embolism and medical induction of labour. METHODS: We used a population-based cohort of 3 million hospital deliveries in Canada between 1991 and 2002 to assess the associations between overall and fatal rates of amniotic-fluid embolism and medical and surgical induction, maternal age, fetal presentation, mode of delivery, and pregnancy and labour complications. FINDINGS: Total rate of amniotic-fluid embolism was 14.8 per 100,000 multiple-birth deliveries and 6.0 per 100,000 singleton deliveries (odds ratio 2.5 [95% CI 0.9-6.2]). Of the 180 cases of amniotic-fluid embolism in women with singleton deliveries during the study period, 24 (13%) were fatal. We saw no significant temporal increase in occurrence of amniotic-fluid embolism for total or fatal cases. Medical induction of labour nearly doubled the risk of overall cases of amniotic-fluid embolism (adjusted odds ratio 1.8 [1.3-2.7]), and the association was stronger for fatal cases (crude odds ratio 3.5 [1.5-8.4]). Maternal age of 35 years or older, caesarean or instrumental vaginal delivery, polyhydramnios, cervical laceration or uterine rupture, placenta previa or abruption, eclampsia, and fetal distress were also associated with an increased risk. INTERPRETATION: Medical induction of labour seems to increase the risk of amniotic-fluid embolism. Although the absolute excess risk is low, women and physicians should be aware of this risk when making decisions about elective labour induction.

Adult↗
PubMed1995

Before the horse is out of the barn: fetal surgery for hydrops.

Hydrops fetalis, a condition characterized by abnormal accumulation of fluid and edema in the fetus, is the final common pathway in a number of pathological conditions. The diagnosis of hydrops is based on ultrasonographic findings of generalized edema along with a serous effusion (ascites, pleural effusion, or pericardial effusion). Polyhydramnios and placentomegaly may also be present. Historically, hydrops fetalis has been described in cases of Rh alloimmunization and severe erythroblastosis (immune hydrops). Hydrops is considered "nonimmune" if there is no evidence of fetal-maternal blood group incompatibility. Over the past few decades, nonimmune hydrops has been recognized more frequently. In a number of series, 80% to 90% of hydropic fetuses were considered nonimmune. Incidence ranges from 1 in 1,500 to 1 in 3,800 births. Etiology is diverse and associated conditions include cardiovascular malformations, chromosomal abnormalities, thoracic lesions, infections, metabolic disorders, fetal anemia and twinning. Overall prognosis is poor, with mortality between 50% and 98%. Advances in obstetric ultrasound and prenatal diagnosis have made it possible to diagnose a number of congenital anomalies early in gestation. In some cases, anatomic anomalies diagnosed in utero progress to nonimmune hydrops and almost certain fetal demise. It is these conditions that can be considered for fetal surgical intervention. This article reviews the pathophysiology and rationale behind surgical correction of two conditions that lead to hydrops: fetal thoracic lesions (congenital cystic adenomatoid malformation, pulmonary sequestration, and fetal pleural effusions) and sacrococcygeal teratoma (SCT).

Bronchopulmonary Sequestration↗
PubMed1999

Management of fetal airway obstruction.

Fetal airway obstruction can make it difficult if not impossible to secure the airway at birth, before hypoxia, brain injury, or death results. Fetal airway obstruction can result from an intrinsic defect in the airway, such as the congenital high airway obstruction syndrome or extrinsic compression of the airway caused by a cervical mass, most commonly a cervical teratoma or lymphangioma. As fetuses with fetal airway obstruction reach viability, they should be monitored closely for the development or progression of hydrops in intrinsic obstruction cases or polyhydramnios in extrinsic obstruction cases. The fetus should be delivered by using the ex utero intrapartum treatment procedure, with maintenance of uteroplacental circulation and gas exchange. This approach provides time to perform procedures such as direct laryngoscopy, bronchoscopy, or tracheostomy to secure the fetal airway, thereby converting an emergent airway crisis into a controlled situation.

Airway Obstruction↗
PubMed2000

Nasopharyngeal teratomas and dermoids: a review of the literature and case series.

OBJECTIVES: Review the clinical differences between nasopharyngeal (NP) true teratomas and dermoids, with the addition of a case series to the literature. Additionally, review the impact of prenatal diagnosis on the management and outcome of these lesions. STUDY DESIGN: Retrospective review of cases from the Children's Hospital Medical Center (Seattle, WA) and Madigan Army Medical Center (Tacoma, WA) with the histopathologic diagnosis of nasopharyngeal teratoma or dermoid. Review of medical literature for cases reported since 1977, when prenatal diagnosis of these lesions was first reported. Only tumors of the nasopharynx were considered. METHODS: Charts and pertinent literature were reviewed and data presented with respect to age at diagnosis, signs and symptoms, perinatal diagnosis and management, preoperative evaluation, surgical treatment, and outcome. RESULTS: The majority of lesions were diagnosed at birth, with the most common presenting symptom being respiratory distress. Teratomas had a higher incidence of maternal polyhydramnios, preterm birth, need for emergent airway management, and associated congenital abnormalities. Complete surgical excision remains the treatment of choice. Recurrences were rare, occurring only in the teratoma group. Prenatal diagnosis did not have a significant impact on the diagnosis and treatment of these lesions in our review. CONCLUSIONS: Inconsistent use of a standard classification system has made differentiating between NP teratomas and dermoids difficult, although the clinical implications can be critical. NP teratomas have a higher incidence of preterm birth, neonatal airway distress, associated congenital abnormalities, need for more extensive surgical procedures, and recurrence. Prenatal diagnosis has made little impact on the overall diagnosis and treatment of these lesions.

Adult↗