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PubMed2001

Prenatal diagnosis of 13q- syndrome in a fetus with holoprosencephaly and thumb agenesis.

Partial deletion of the long arm of one of the chromosomes 13 is an exceedingly rare condition. We report such a case in a 32-week fetus presenting with polyhydramnios, growth restriction and multiple structural defects including alobar holoprosencephaly, facial abnormalities, clubfoot, clinodactyly and thumb agenesis. Fetal blood sampling revealed a 46,XY, del(13)(q22 --> qter) abnormal male karyotype. Postmortem examination confirmed the prenatal findings and showed other manifestations of the syndrome. To our knowledge, this case represents the first in which the prenatal ultrasound detection of holoprosencephaly in association with distal limb abnormalities led to the prenatal diagnosis of the 13q- syndrome.

Adult↗
PubMed2002

Fetal duodenal obstructions: increased risk of prenatal sudden death.

OBJECTIVES: The aim of this study was to describe the outcome of fetuses with duodenal obstruction diagnosed prenatally and to compare the outcome with the results of studies of newborns. METHODS: All fetuses with a prenatal diagnosis of duodenal obstruction were registered and evaluated prospectively from January 1985 to December 2000. RESULTS: Duodenal obstruction was found in 29 fetuses at a mean gestational age of 29+2 weeks. Polyhydramnios was found in 24 cases (83%). Six fetuses (21%) had trisomy 21. Associated anomalies, including trisomy 21, were found in 18 cases (62%). Four fetuses with normal karyotype died in utero at 31-35 gestational weeks. Two of them had associated anomalies, but the anomalies could not explain the prenatal deaths and the deaths occurred suddenly and unexpectedly. Three infants died postnatally; all three had associated anomalies. Four infants with normal karyotype had neurological impairment suggesting that they might have had intrauterine asphyxia. CONCLUSIONS: The present study indicates that duodenal obstruction is a more serious condition than previously believed, with an increased risk of prenatal asphyxia and death, even when the karyotype is normal and no associated anomalies are present. We consider the possibility that it could be caused by bradycardia/asystole following vagal overactivity due to distension of the upper gastrointestinal tract.

Adult↗
PubMed1995

[Ultrasound diagnosis of epignathus in the 17th week of pregnancy. Case report and review of the literature].

An epignathus was found by routine screening ultrasound examination in the 17th week of pregnancy. Epignathi are teratomas in the oral cavity and are rarely found. The detection of an epignathus in the first half of pregnancy was described only three times in literature. The teratoma may also invade the cerebrum and is associated with a polyhydramnios and elevated alphafetoprotein. If the diagnosis is made in the first half of pregnancy a induced abortion is to be discussed.

Adult↗
PubMed1991

[Results of transabdominal placental biopsy in the 2nd and 3d trimester].

From August 1988 to October 1990, 115 transabdominal placental biopsies were performed in the second (68%) and third trimenon (32%). The main indication (80%) was the detection of pathological ultrasonographic findings (foetal malformation, growth retardation, oligohydramnios and polyhydramnios). The success rate of chorionic villus sampling (89%) was independent of the localisation of the placenta. A definite cytogenetic result was found in 83% of patients. By combination of placental biopsy and amniocentesis (n = 77) karyotyping was successful in 97% of pregnancies. Chromosomal abnormalities were observed in 15 (13%) cases (7 autosomal and 2 gonosomal aneuploidies, 1 unbalanced translocation, 1 autosomal deletion, 4 structural variants). The outcome of the pregnancies was substantially influenced by the indication for the procedure and by the cytogenetic result. Foetal and peri-/neonatal losses were found in 53% (3% spontaneous abortions) of patients with sonographic abnormalities (n = 92) and in 9% (abortion rate 4%) of pregnancies with regular findings (n = 23). The pregnancy loss rates were 37.7% and 5.9%, respectively. The results confirm the clinical significance of placental biopsy in the management of pregnancies with pathological ultrasonographic findings.

Chorionic Villi↗
PubMed1993

Progression of nonimmune hydrops in a fetus with Noonan syndrome.

Presented is a case of nonimmune hydrops caused by Noonan syndrome. This autosomal dominant disorder, with an incidence of 1 in 1000 births, is manifested by trunk and limb edema, lymphatic abnormalities, webbed neck, short stature, and cardiac and genital anomalies. In this case the initial presentation was polyhydramnios at 31 weeks' gestation, followed in 1 week by pleural effusions and a week later by skin edema. An 18-week ultrasound had been normal. Because of variable expressivity, only the most severe cases of the disease are usually diagnosed. Thus, the incidence may be higher than 1 in 1000, and Noonan syndrome may be underdiagnosed as a cause of nonimmune hydrops. Since lymphedema in this syndrome may regress spontaneously, conservative obstetric management is preferable unless the fetus develops distress.

Adult↗
PubMed1993

Placental chorioangioma: prenatal diagnosis and clinical significance.

We report the prenatal diagnosis of placental chorioangioma in a 32-week intrauterine pregnancy associated with polyhydramnios and enlarged fetal cardiac size that resulted in intrauterine fetal death. Ultrasound appearance, pathophysiology, and clinical significance of this entity are discussed.

Adolescent↗
PubMed2002

Pregnancy in women who undergo long-term hemodialysis.

OBJECTIVE: Pregnancy is rare in women who require long-term hemodialysis, and pregnancy outcome with a live birth has a low success rate. The purpose of this study was to describe the treatment of pregnancy and the outcome in a series of patients undergoing long-term hemodialysis treatment. STUDY DESIGN: A total of 15 women who were undergoing long-term hemodialysis treatment who had 18 pregnancies during the period from 1990 to 2000 were included in this study. All the women had been undergoing hemodialysis for a mean of 5.3 years before pregnancy, except for one woman who began hemodialysis at 16 weeks of gestation. When conception was confirmed, the risks of pregnancy were explained to the couple and to the medical team. Almost all hemodialysis were performed with a high-flux dialyzer and with volume-controlled ultrafiltration. During pregnancy the hemodialysis schedule was increased to 4 hours 4 to 6 times weekly, with a blood flow rate of 250 to 300 mL/min and a dialysate flow rate of 500 to 600 mL/min. Data on changes in dialysis regimen, biochemistry, blood pressure control, use of erythropoietin, medical complications, obstetric regimen, and perinatal problems were collected. RESULTS: Elective abortion was performed in 5 of the 18 pregnancies. Thirteen pregnancies were treated, with 12 live births, of which 9 infants survived. There was 1 intrauterine fetal death and 3 neonatal deaths. No fetal anomaly was detected. The mean gestational age at delivery was 32 weeks (range, 23-36 weeks). The mean newborn weight was 1542 g (range, 512-1660 g), with intrauterine growth restriction in 7 of the 9 cases. Anemia was treated with recombinant human erythropoietin and/or transfusion in all cases. Of the 15 women undergoing hemodialysis treatment, elevated blood pressure was complicated in 13 pregnancies, in which 7 were treated with antihypertensive drugs. Polyhydramnios occurred in 6 of 9 surviving live births and was partially relieved after hemodialysis. Cesarean delivery was performed in 6 of 13 deliveries. All of the women recovered after delivery to their prepregnancy dialysis therapy levels. CONCLUSION: Although pregnancy remains risky in women who are undergoing long-term dialysis, advances in dialysis, obstetrics, and neonatal treatment have led to an improved success rate. Our data from 1990 to 2000 showed a 60% success rate.

Female↗
PubMed2003

Swallowing, urine flow, and amniotic fluid volume responses to prolonged hypoxia in the ovine fetus.

OBJECTIVE: Four days of hypoxia produce an extensive fetal polyuria with little change in amniotic fluid volume in the ovine fetus. We hypothesized that fetal swallowing and intramembranous absorption would increase with prolonged hypoxia to offset the polyuria. STUDY DESIGN: After a 24-hour normoxic period, nine ovine fetuses were subjected to 4 days of hypoxia induced by lowering maternal inspired oxygen content. Seven fetuses were monitored for 5 days as normoxic time controls. Measurements included fetal swallowed volume by a computerized system with Transonic flow probes, urine production by gravity drainage, and amniotic fluid volume by an indicator dilution technique. Data were averaged over 12-hour intervals, and a three-factor repeated-measures analysis of variance was used for statistical testing. RESULTS: During days 2 to 5, arterial oxygen tension was 20.7+/-1.1 (SE) mm Hg in the normoxic and 13.9+/-0.8 mm Hg in the hypoxic fetuses (P<.0001). Urine flow was unchanged over time in the normoxic fetuses and increased gradually from 693+/-88 to 2189+/-679 mL per day during hypoxia (P<.0001). The prehypoxia swallowed volume was similar in the two groups, averaging 447+/-95 mL per day. Although transiently decreased in eight of nine hypoxic fetuses, the 12-hour average swallowed volumes were not significantly different at any time in the hypoxic versus normoxic fetuses (P=.62). Amniotic fluid volume increased in the hypoxic fetuses relative to that in the normoxic fetuses (520+/-338 mL vs -226+/-136 mL, P<.01), although the increase was small (P<.01) relative to the excess volume of urine (4269+/-1306 mL). Estimated intramembranous absorption increased from 209+/-95 mL per day during normoxia to average 1032+/-396 mL per day during hypoxia. CONCLUSIONS: The current study supports the concept that prolonged hypoxia produces a progressive fetal polyuria with relatively small changes in amniotic fluid volume. Concomitantly, hypoxia does not induce prolonged changes in fetal swallowing; rather, intramembranous absorption greatly increases, thereby preventing severe polyhydramnios.

Absorption↗
PubMed1991

Administration of prostaglandin inhibitors to the mother; the potential risk to the fetus and neonate with duct-dependent circulation.

Two infants were delivered by urgent Caesarean section at 34 weeks because of fetal distress. One rapidly developed severe cardiac failure and the other marked cyanosis. Their mothers had been prescribed indomethacin and mefenamic acid (Ponstan) to treat premature onset of labour and chronic polyhydramnios, respectively. Both infants had duct-dependent circulations, their cross-sectional echocardiography showing only a small (1-2 mm diameter) patent ductus arteriosus. The early onset and severity of their symptoms suggested that the maternal intake of prostaglandin inhibitors may have deleteriously led to early closure of their ducts, essential in duct-dependent circulations. Although such occurrences are rare, fetal cross-sectional echocardiography should be performed prior to administration of prostaglandin inhibitors during pregnancy.

Cesarean Section↗
PubMed2004

Jejunal atresia in an infant with triple-X syndrome.

A 33-year-old woman presented at 31 weeks' gestation with polyhydramnios that required repeated amniodrainage. An antenatal scan at 32 weeks showed dilated fetal bowel loops, which were not confirmed on subsequent scans. The amniotic fluid karyotype confirmed 47,XXX. After birth, jejunal obstruction was confirmed. To our knowledge, this is the first report of an association of triple-X syndrome and jejunal atresia.

Adult↗
PubMed2001

National Institute of Child Health and Development Conference summary: amniotic fluid biology--basic and clinical aspects.

This report summarizes the National Institute of Child Health and Development sponsored conference on amniotic fluid (AF) biology, held 28-29 September 1999, in Detroit, Michigan. National and international investigators with expertise in AF biology addressed the regulation of AF volume and composition as well as the clinical aspects of interpreting fetal health and well-being from AF indices. A major purpose of the meeting was to consider future directions and opportunities for basic and clinical research which focus on understanding the physiology and pathophysiology and providing therapeutic interventions for abnormalities of AF volume. To achieve this, the workshop participants addressed the current state of knowledge, recent scientific advances and priorities for major questions for which answers must be sought. The fact that it is not known whether AF volume is regulated or what volume-regulatory mechanisms might be involved is a major problem that needs addressing. In the later half of gestation, potential AF volume-regulatory pathways include the two major inflows into the amniotic compartment, i.e. fetal urine and lung liquid, and the two major outflows, i.e. fetal swallowing and intramembranous absorption. If AF volume is regulated, then this must occur through regulation of intramembranous flow, because the other three flows are regulated by the fetus to meet fetal needs. Regulation of AF composition is similarly unknown. In clinical practice, a variety of ultrasonographic indices of AF volume are used, but the relationships of these indices to AF volume have not been determined, nor have their dependency on fetal size, shape or position within the uterus. Further, although aberrations in AF volume both above and below normal are associated with increased fetal and neonatal morbidity and mortality, the predictive utility of the various AF indices remains low and there is little consensus on which is best utilized under conditions of oligohydramnios, normal AF volumes, or polyhydramnios. Further, various clinical AF therapies remain largely experimental and their optimization and utilization need exploration. This report is a condensation of the views presented by the conference participants.

Amniotic Fluid↗
PubMed2003

Amniotic fluid index measured with the aid of color flow Doppler.

OBJECTIVE: To determine whether using color flow Doppler to identify the umbilical cord affects amniotic fluid index (AFI) measurements. METHODS: A total of 2236 AFI measurements between 24 and 42 weeks in singleton gestations with no known or suspected fetal anomalies and < 14 days' discrepancy between menstrual and ultrasonographic dating were included. Color flow Doppler was used to identify loops of umbilical cord; these were excluded from the measurement. Polynomial regression was used to generate means and centiles. Data were grouped according to completed weeks of gestation and descriptive statistics were calculated. At each week of gestation, the number and percentage of pregnancies diagnosed as < or = 2.5th, < or = 5th, > or = 95th, and > or = 97.5th centile according to a 'standard' nomogram derived without using color flow Doppler were calculated. RESULTS: The AFI decreased significantly over gestational age, starting at 31 weeks (p < 0.05 by ANOVA). The relationship between AFI and gestational age was best modeled by a second-degree polynomial (p < 0.001). The median and range of the proportion of AFIs that fell outside the ranges of the standard nomogram at each completed gestational age was: 6.0 (2.3-35.4)% for the < or = 2.5th centile, 9.9 (3.1-37.5)% for the < or = 5th centile, 3.8 (0-30)% for the > or = 95th centile, and 1.8 (0-20)% for the > or = 97.5th centile. The 2.5th and 5th centiles using the current data were lower than those of the 'standard', and the difference increased with advancing gestation. Upper centiles were also different. CONCLUSION: The AFI measured using color flow Doppler overestimates oligohydramnios and may underestimate polyhydramnios when a standard AFI table obtained without color flow Doppler is used. Normal values specific for measurement method should be used for reference.

Amniotic Fluid↗
PubMed1979

Extralobar pulmonary sequestration: analysis of 15 cases.

Extralobar pulmonary sequestrations occurring in 15 patients were studied. Twelve of the lesions were discovered during the first day of life; all of these patients died. The lesions occurred more often in male patients (11 cases). Polyhydramnios was present in four infants, and these four plus an additional infant had localized or generalized edema. Associated congenital anomalies were present in ten patients, including three examples each of diaphragmatic hernia and bronchogenic cyst. In one case the extralobar pulmonary sequestration was composed entirely of a congenital cystic adenomatoid malformation. In one other case, congenital adenomatoid malformation was present in a nonsequestered portion of lung. Significant lymphatic dilatation was found in four cases, two of which resembled congenital lymphangiectasis. Hyaline membranes, present in the normal lungs of three preterm infants, were absent in extralobar pulmonary sequestrations.

Aorta, Thoracic↗
PubMed2001

Comparison of Pkd1-targeted mutants reveals that loss of polycystin-1 causes cystogenesis and bone defects.

A high level of polycystin-1 expression is detected in kidneys of all patients with autosomal dominant polycystic kidney disease (ADPKD). Mice that overexpress polycystin-1 also develop renal cysts. Whether overexpression of polycystin-1 is necessary for cyst formation is still unclear. Here, we report the generation of a targeted mouse mutant with a null mutation in Pkd1 and its phenotypic characterization in comparison with the del34 mutants that carry a 'truncation mutation' in Pkd1. We show that null homozygotes develop the same, but more aggressive, renal and pancreatic cystic disease as del34/del34. Moreover, we report that both homozygous mutants develop polyhydramnios, hydrops fetalis, spina bifida occulta and osteochondrodysplasia. Heterozygotes also develop adult-onset pancreatic disease. We show further that del34 homozygotes continue to produce mutant polycystin-1, thereby providing a possible explanation for increased immunoreactive polycystin-1 in ADPKD cyst epithelia in the context of the two-hit model. Our data demonstrate for the first time that loss of polycystin-1 leads to cyst formation and defective skeletogenesis, and indicate that polycystin-1 is critical in both epithelium and chondrocyte development.

Animals↗
PubMed1989

Pena-Shokeir I syndrome: a comparative pathological study.

A case of Pena-Shokeir I syndrome in a female neonate is reported. The baby died of respiratory insufficiency shortly after birth. Postmortem examination revealed marked pulmonary hypoplasia and microscopic abnormalities of the hypoglossal nucleus and anterior horn cells in spinal cord. A comparative study with respect to hypoglossal nucleus disclosed the possibility of hypoplasia of the hypoglossal nucleus as part of this syndrome. This finding led us to propose that hypoplasia of the nucleus is one of the causes of polyhydramnios, based on the lack of swallowing activity. Moreover, ectopic cross-striated muscle fibers and an increase of muscle spindles were noted in tongue. The findings, particularly the neuropathologic one, provide further insight into the pathogenesis of the syndrome.

Abnormalities, Multiple↗
PubMedDate not supplied

Case report. Antenatal diagnosis of chorioangioma of the placenta: MR features.

We report a case of chorioangioma of the placenta, in which MR findings were useful in establishing the antenatal diagnosis. Polyhydramnios and a placental tumor that was 5 cm in size were visualized. The tumor had relatively high signal intensities on proton density imaging and T2-weighted imaging and showed partially high intensity signal rims on T1-weighted imaging, especially when using a breath-holding technique. Magnetic resonance imaging has an important role in detection and diagnosis of these lesions, particularly the larger tumors, so that appropriate steps can be taken to deal with the complications that may accompany this tumor.

Adult↗
PubMed1979

Recurrent nonimmune hydrops fetalis.

A case of recurrent nonimmune hydrops fetalis is presented. In each of the 2 pregnancies involved, early neonatal death occurred. Only 1 other case could be discovered in the literature where the problem recurred. Hence, normally, a good prognosis for future pregnancies is given. In spite of extensive investigation, the etiology of nonimmune hydrops fetalis remains unknown. The condition is associated with preeclampsia, polyhydramnios, and premature labor. While the polyhydraminos renders management difficult, it makes the ultrasound diagnosis much clearer. This early diagnosis ensures the availability of optimal perinatal care for the infant on delivery.

Edema↗
PubMed1990

Tracheal agenesis.

Tracheal agenesis is a rare congenital anomaly. We report a case and review the cases previously reported. Clinical features that might indicate tracheal agenesis include antenatal polyhydramnios, severe respiratory distress, absence of an audible cry, failure to advance an endotracheal tube beyond the larynx, a palpable distal trachea, clinical improvement after esophageal intubation, and roentgenographic absence of a tracheal air column with an abnormal position of the carina. For immediate management of the affected infant, we recommend intubation of the esophagus with an endotracheal tube to provide an air passage, and determination of the level of the defect by careful use of contrast material and roentgenography. Infants having type I tracheal agenesis may benefit from immediate tracheostomy.

Bronchial Fistula↗