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PubMed2002

Malformations in newborn: results based on 30,940 infants and fetuses from the Mainz congenital birth defect monitoring system (1990-1998).

Prevalence rates of birth defects in the Federal Republic of Germany are informative to assess the general background risk of having a child with a birth defect. They provide basic figures to determine temporal and regional prevalence trends, to evaluate and initiate preventive measures and to initiate research projects. To avoid observer, definition and collection bias, active monitoring systems are required. Data collected in the active monitoring system of the Mainz Birth Defects Registry are presented. From 1990-1998, 30,940 live-births, stillbirths and abortions underwent standardized physical and sonographic examinations. Anamnestic data were collected from prenatal care records, maternity files and hospital records. Major malformations were diagnosed in 2144 (6.9%) and mild errors of morphogenesis in 11,104 (35.8%) of all infants. Risk factors associated with the occurrence of major malformations were identified by comparing anamnestic data from infants with and without major malformations. Using multivariate regression models, statistically significant associations were established for 9 risk factors. Causally related risk factors were parents or siblings with malformations, parental consanguinity, more than 3 minor errors of morphogenesis in the proband, maternal diabetes mellitus and ingestion of antiallergic drugs in the first trimester of pregnancy. Conjunctional risk factors were polyhydramnios, oligohydramnios and gestational age <32 weeks at birth. Using these risk factors, populations at risk for the occurrence of major malformation can be identified.

Cohort Studies↗
PubMed2003

Upper neck pouch sign in prenatal diagnosis of esophageal atresia.

INTRODUCTION: Prenatal diagnosis of esophageal atresia is usually based on a suspicion, with the finding of a small or absent stomach in the presence of polyhydramnios. However, this combination has a low positive predictive value, and this uncertainty in prenatal diagnosis confuses the decision making process, and causes an unnecessary parental anxiety. The upper neck pouch sign is a more reliable finding for prenatal diagnosis of esophageal atresia. Despite its usefulness there have been several cases reported until now. CASE REPORT AND DISCUSSION: We diagnosed a new case with congenital esophagus atresia by detecting upper neck pouch sign, and discussed the value of this finding.

Adult↗
PubMed2001

Incidence of intrauterine complications in monoamniotic twin gestation.

We compared the incidence of intrauterine complications, such as twin-twin transfusion syndrome, between monochorionic-monoamniotic (MM) and monochorionic-diamniotic (MD) twin gestations. We retrospectively evaluated a series of 11 MM and 211 MD twin gestations managed after 22 weeks' gestation at our hospitals. One MM twin gestation was diagnosed with twin-twin transfusion syndrome based on clinical presentation of polyhydramnios and hydrops. The incidence of twin-twin transfusion syndrome in MM twin gestations (9.1%) was not measurable different from that in the MD twin gestations (7.6%, p=0.09). There were no measurable differences in the incidence of other complications, such as growth discordance >25% or intrauterine fetal demise between the two groups. MM twin gestations should be kept under close management while carefully monitoring for any circulatory imbalance between the twins.

Adult↗
PubMed2002

Clinical consequences of twin-to-twin transfusion.

Twin-to-twin transfusion (TTT) is a complication of monochorionic twins that may result in high mortality and morbidity. To better understand pathophysiology in TTT and the consequences for affected fetuses and neonates, we describe the clinical features of 19 consecutive pregnancies complicated by TTT over 5 years. The diagnosis was made based on the findings of polyhydramnios-oligohydramnios sequence with weight discordance judged by obstetrical sonogram in monochorionic twins. Serial amnioreductions were performed as the sole modality of therapeutic intervention when indicated. The obstetrical diagnosis of TTT was first made at a median gestational age of 26 weeks (range 20-35 weeks). Median age of delivery was 30 weeks (range 26-36 weeks). Thirty-three babies of the 19 pairs of twins were born alive, but only 21 of them lived beyond 28 days of life. Fifteen pairs of twins with TTT had weight discordance greater than 20%, but only one pair showed initial hemoglobin difference greater than 5 g/dl. Newborn infants with TTT were at risk for development of renal insufficiency, periventricular leukomalacia, and necrotizing enterocolitis. Intrauterine fetal demise of one twin and severe anemia (hemoglobin <10 g/dl) at birth were poor prognostic factors. Recent advances in perinatal care improves pregnancy outcome of TTT; however, surviving neonates are still at risk for morbidities arising from hemodynamic aberrations.

Adult↗
PubMedDate not supplied

Congenital absence of the trachea.

UNLABELLED: Congenital absence of the trachea is a rare cause of severe neonatal respiratory distress. Experimental studies show that it is probably caused by disorders in a system of folds in the tracheo-oesophageal space rather than abnormalities of a tracheo-oesophageal septum. A literature review disclosed 82 cases of tracheal agenesis, which showed male predominance and an association with prematurity and polyhydramnios. In 90% of cases associated congenital malformations were present, most frequently affecting the cardiovascular or gastro-intestinal systems and the genito-urinary tract. Clinical signs of tracheal agenesis or atresia are respiratory insufficiency, often with severe respiratory distress, absence of audible crying and difficult or impossible endotracheal intubation. At present, curative repair and survival are impossible unless there is enough proximal or distal trachea to create a tracheostoma. Important ongoing research is aimed at tissue-engineered cartilage for surgical repair of tracheal defects. CONCLUSION: Tracheal agenesis, although very rare, can be recognised from a characteristic clinical pattern. Mostly associated congenital malformations are present. Research into tissue-engineering might lead to possibilities for definitive surgical repair of tracheal agenesis or atresia; however, until curative repair becomes possible, prolonged ventilation via the oesophageal tube does not seem to be worthwhile.

Abnormalities, Multiple↗
PubMed1997

Congenital bilateral agenesis of diaphragm: report of a case.

UNLABELLED: Bilateral agenesis of the diaphragm is a rare, life-threatening malformation. Infants with this defect rarely survive to have surgical intervention. We report a 32-week premature female infant who was born to a 36-year-old mother via vaginal delivery. The pregnancy course was complicated by hypertension and polyhydramnios. Cytogenetic study showed a normal 46 XX female karyotype. She had cyanosis, respiratory distress and scaphoid abdomen at birth. A roentgenograph confirmed the diagnosis of diaphragmatic hernia. Surgery was performed at 21 h of age. Bilateral agenesis of diaphragm, herniation of abdominal organs and oesophagus and pulmonary hypoplasia were noted. Furthermore, stomach and spleen were adherent to the mediastinum and vertebrae. The patient developed hypotension and persistent hypoxaemia and expired at age of 26 h. Autopsy revealed bilateral agenesis of diaphragm, hypoplasia of lungs, and pancreas fibrosis with mild hypoplasia of islets of Langerhans. CONCLUSION: Bilateral agenesis of diaphragm associated with pancreas fibrosis is a rare entity, and its clinical significance needs further investigation.

Abnormalities, Multiple↗
PubMed1999

Clinical symptoms, biochemical studies and therapeutic approaches in a sibship with a new congenital tubulopathy.

UNLABELLED: We report on two siblings suffering from a new congenital tubulopathy. Following normal pregnancies not complicated by polyhydramnios, severe renal losses of potassium, chloride, sodium and magnesium occurred in the first weeks after birth. Calcium metabolism was not affected. The distal tubular chloride reabsorption was considerably decreased in the two siblings (0.25 and 0.28, respectively). Secondary hyperaldosteronism, activation of the kallikrein-kinin system and elevated urinary prostaglandin excretion were observed. The effects of indomethacin, spironolactone and captopril on symptoms, electrolyte wasting, activation of renin-angiotensin-aldosterone and kallikrein-kinin system and prostaglandin synthesis were studied. In spite of persisting elevation of prostaglandin synthesis, captopril decreased electrolyte wasting, polyuria and hyperaldosteronism most effectively. CONCLUSION: We delineate an apparently new disorder characterized by a postnatal onset, an extremely decreased chloride reabsorption with extensive hyperchloriduria and hypermagnesiuria in the presence of normal calcium metabolism. The disorder can be distinguished from other tubulopathies with hypokalaemic alkalosis.

Absorption↗
PubMed1999

Cystic adenomatoid malformation of the lung: clinical evolution and management.

UNLABELLED: Cystic adenomatoid malformation of the lung (CAML) is a rare pulmonary maldevelopment resulting from an abnormal growth of the terminal bronchial structures. This study proposes a possible management of prenatally diagnosed CAML. A group of nine cases of CAML diagnosed prenatally between January 1990 and December 1995 was studied retrospectively. The evolution of lesions was followed in utero by serial ultrasound monitoring. Chest X-ray was performed at birth in all neonates and CT only in the symptomatic ones. CAML was macrocystic in three cases and microcystic in six. No polyhydramnios, hydrops or associated malformations were seen. In four cases, CAML was confirmed at birth and required surgery. The lesion decreased in size prenatally in five fetuses, of whom only one underwent surgery. In two further cases a prenatal diagnosis of CAML was changed to diaphragmatic hernia. CONCLUSION: Given the possible clinical disappearance or resolution of cystic adenomatoid malformation of the lung, we believe that surgery is justified at birth only in symptomatic and radiologically positive neonates. It could be safely delayed in those asymptomatic patients with either positive or negative chest X-ray. The former need computed tomography at birth, whereas, in the latter, it should be performed at 6 months of age for a more definitive assessment of the patient.

Cystic Adenomatoid Malformation of Lung, Congenita↗
PubMed2006

Mutation G47R in the BSND gene causes Bartter syndrome with deafness in two Spanish families.

Bartter syndrome (BS) is a heterogeneous group of autosomal recessive hypokalaemic salt-losing tubulopathies. Five types of BS caused by different genetic defects have been identified, and one of them is associated with sensorineural deafness (BSND). Mutations in the recently described BSND gene, mapped in chromosome 1p31, have been reported to be associated with BSND. This gene encodes barttin, an essential beta-subunit subunit for ClC-Ka and ClC-Kb channels. Both subunits are co-expressed in basolateral membranes of renal tubules, in the ascending limb of the loop of Henle, and in the stria vascularis of the inner ear. We studied two apparently unrelated Spanish families from the Canary Islands, with five members showing this pathology. Sequence analysis of the BSND gene showed that the affected members were homozygous for a C-to-T transition in exon 1, while their parents were heterozygous. This alteration results in a missense mutation, G47R, which has been previously shown to abolish the stimulatory effect on the subunit barttin of the ClC-Kb channel. Our results indicate that families with the G47R mutation indeed present polyhydramnios, premature birth and salt loss. Nevertheless, glomerular filtration rate was normal in all patients. Clinical manifestations are moderate in patients with the G47R mutation compared to other published data form patients with BSND. This constitutes the first report of BSND cases in Spain.

Adolescent↗
PubMed2006

Type IV Bartter syndrome: report of two new cases.

Bartter syndrome with sensorineural deafness (type IV Bartter syndrome) is a subtype of this tubular disease, and is due to mutations in the BSND gene. Out of a population of 92 patients with Bartter syndrome, five suffered from mild to severe hypoacusia and were selected for mutational screening. A homozygous mutation in the BSND gene was found in two female patients. The first patient was found to have a substitution in intron 1 donor splice site at position +5 (c.420+5G>C), whereas the second patient has a homozygous 3G>A substitution leading to the loss of the start codon for the translation of the BSND mRNA. The clinical courses of these two patients were remarkable for severe polyhydramnios, massive renal salt and water wasting, severe neonatal hypotonia, poor growth and unresponsiveness to prostaglandin inhibitors. The diuretic responses to furosemide and to hydrochlorothiazide were tested under KCl supplementation in one patient. A lack of response to both drugs suggested that inhibition of NaCl reabsorption in type IV Bartter syndrome is not restricted to the thick ascending limb of Henle. In one patient, a combined therapy with indomethacin and captopril was needed to discontinue intravenous fluids and improve weight gain.

Angiotensin-Converting Enzyme Inhibitors↗
PubMed1996

Neonatal Bartter syndrome--use of indomethacin in the newborn period and prevention of growth failure.

Neonatal Bartter syndrome differs from the classical Bartter syndrome in the occurrence of antenatal presentation with polyhydramnios. Nephrocalcinosis and severe growth retardation are common sequelae. Indomethacin has been reported to improve linear growth, but its use in the early newborn period has been infrequently described. In this paper we report normal growth and development and the absence of nephrocalcinosis in an infant now aged 19 months with neonatal Bartter syndrome treated from day 3 of life with indomethacin. With early diagnosis and treatment with indomethacin plus adequate water, calories, and sodium, normal growth can be achieved and nephrocalcinosis may be prevented in children with neonatal Bartter syndrome.

Bartter Syndrome↗
PubMed1997

Bartter syndrome in Costa Rica: a description of 20 cases.

Bartter syndrome involves an overlapping set of closely related renal tubular disorders which can be subdivided into at least three clinical phenotypes: (1) classic Bartter syndrome (2) Gitelman syndrome, and (3) a neonatal variant of Bartter syndrome. In contrast to classic Bartter syndrome and Gitelman syndrome, the neonatal variant of Bartter syndrome has both the features of renal tubular hypokalemic alkalosis as well as profound systemic manifestations. Specifically, neonatal Bartter syndrome is characterized by intrauterine polyhydramnios, premature delivery, and life-threatening episodes of fever and dehydration. Most of these infants also have severe hypercalciuria with associated nephrocalcinosis and osteopenia. Over a 22-year period, 20 Costa Rican patients with a congenital syndrome that resembles neonatal Bartter syndrome have been identified and characterized. While these patients exhibit some of the clinical characteristics previously described for neonatal Bartter syndrome, this cohort also has a set of distinct features. They are predominantly female, have a later age of diagnosis, manifest a relatively unique set of physical traits, and appear to have milder clinical disease. Given these differences, it will be important to apply the emerging molecular tools to determine whether the phenotypic variability indicates genetic heterogeneity in neonatal-onset Bartter syndrome.

Age of Onset↗
PubMed1998

Neonatal Bartter syndrome: spontaneous resolution of all signs and symptoms.

This baby boy was born after a pregnancy complicated by severe polyhydramnios at a gestational age of 28 weeks. Analysis of the amniotic fluid had shown a high chloride content, but normal concentrations of sodium, potassium, and calcium. After birth he displayed extreme polyuria, severe renal sodium and chloride loss, and marked hypercalciuria. Five weeks after birth, his sodium chloride loss turned into renal potassium loss, along with a marked decrease in urine output. All these features are characteristic of the neonatal variant of Bartter syndrome. He was discharged after 11 weeks with oral supplements of sodium chloride, potassium gluconate, and 500 ml of fluid. The follow-up for a period of 6 years showed a surprising evolution: he has no hypokalemic alkalosis, no polyuria, and no hypercalciuria; growth and development are within the normal ranges and, at the time of writing, he is a healthy boy needing no medication and with no medical problems whatsoever.

Bartter Syndrome↗
PubMed1998

Bartter and related syndromes: the puzzle is almost solved.

It is now evident that the term Bartter syndrome does not represent a unique entity but encompasses a variety of disorders of renal electrolyte transport. Application of molecular biology techniques has permitted a better understanding of these "Bartter-like syndromes," which at present can be divided into three different genetic and clinical entities. Neonatal Bartter syndrome is observed in newborn infants and characterized by polyhydramnios, premature delivery, life-threatening episodes of fever and dehydration during the early weeks of life, growth retardation, hypercalciuria, and early-onset nephrocalcinosis. Two molecular defects have been identified: either at the gene encoding the renal bumetanide-sensitive Na-K-2Cl cotransporter (NKCC2) or the gene encoding an ATP-sensitive inwardly rectifying K channel (ROMK). "Classic" Bartter syndrome is mostly observed during infancy and childhood and is characterized clinically by polyuria and growth retardation. Nephrocalcinosis is not present. Very recently, either deletions or mutations at the gene encoding a renal chloride channel (ClC-Kb) have been identified. Gitelman syndrome is observed in older children and adults presenting with intermittent episodes of muscle weakness and tetany, hypokalemia, and hypomagnesemia. Mutations at the gene encoding the thiazide-sensitive Na-Cl cotransporter have been identified in the majority of patients studied. Obviously the validity of this classification must be confirmed in the near future when all mutations have been described and genotypic-phenotypic correlations are better defined.

Bartter Syndrome↗
PubMedDate not supplied

Massive myocardial calcification in the perinatal period.

Massive myocardial calcification (MMC) in the perinatal period is an unusual finding considered to be a unique tissue reaction. This report summarizes the clinical and pathologic findings of seven cases of perinatal MMC. All patients presented clinical evidence of myocardial damage. In two cases arrhythmia was detected in utero. Four cases presented with hydrops, one of which was associated with major heart malformation. One case was a trisomy 13. Three cases had polyhydramnios. Our results demonstrate that calcification follows progressive stages from patches of calcified myocardial cells (stage I), to coagulative and colliquative myocytolysis with clusters of interstitial mononucleated cells (stage II), to collapsing fibrosis with granulation tissue and multinucleated regenerative myocardial cells (stage III), and finally to fibrous scars containing entrapped remaining myocardial cells (stage IV). Literature review and our findings suggest that perinatal MMC results from different conditions inducing hypoxic-ischemic damage that later is followed by progressive scarring if the patient survives the acute stage. The lesion may represent the human counterpart of the so-called dystrophic cardiac calcinosis in mice. This disease is related to an abnormality at the Dyscalc locus of proximal chromosome 7 (syntenic with human chromosome 19q13 and 11p15).

Calcinosis↗
PubMed1983

Ultrasound in the diagnosis of fetal malformations. Implications for obstetric management.

The prenatal diagnosis of congenital malformations through ultrasonography leads to major considerations regarding subsequent pregnancy management. These diagnoses are useful in reaching decisions concerning elective abortion, planning the time and method of delivery, and arranging for appropriate support personnel. Although the possibility of fetal anomaly must be considered in all obstetric ultrasonograms, review of 56 malformations diagnosed prenatally found that 31 were studied because of uterine size incompatible with gestational age. Polyhydramnios was associated with 24 of these cases. Multiple fetal abnormalities were found postnatally in 24 of the 51 cases in which one or more malformations were diagnosed through ultrasonography, emphasizing the need for careful counseling and follow-up examination.

Abortion, Induced↗
PubMed1984

High malformation rates and decreased mortality in infants of diabetic mothers managed after the first trimester of pregnancy (1956-1978).

Over a period of 23 years we accumulated data on 182 pregnant juvenile diabetic subjects during pregnancy, labor, and delivery. Diabetic subjects were evaluated generally after the first trimester of pregnancy. Data examined included diabetic class, maternal complications of pregnancy, and infant morbidity and mortality. Data were analyzed in two periods-before and after 1970. In the second period, maternal polyhydramnios and acidosis rates improved, neonatal problems of homeostasis did not change significantly, and combined fetal and neonatal losses fell from 34.7% to 16.4%. The neonatal malformation rate, however, increased from 1.4% to 16.8% and was not influenced by maternal age or diabetic class.

Adolescent↗
PubMed1985

The relationship of the nonstress test to gestational age.

Five hundred ninety-three nonstress tests were performed on 41 obstetric patients, at gestational ages ranging from 20 to 40 weeks. Diagnoses included 10 cases of prematurity, six cases of diabetes mellitus, five cases of collagen-vascular disease, five cases of poor obstetric history, three cases of cardiac arrhythmia, and one case each of asthma, polyhydramnios, leukemia, nonimmune fetal hydrops; and eight volunteers were without high-risk factors. All neonates had a 5-minute Apgar score greater than 8; 29 neonates weighed greater than or equal to 2500 gm, 12 weighed less than 2500 gm, and four weighed less than 1500 gm. One neonate died of prematurity, and one was small for gestational age. There were no congenital anomalies. There was a significant difference in the number of reactive nonstress tests and nonreactive nonstress tests between the 20- to 24-week, 24- to 28-week, 28- to 32-week, and 32- to 36-week gestational age groups. The increased incidence of nonreactive nonstress tests at earlier gestational ages may have clinical implications.

Adult↗