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Fetal outcome of triplets in a Turner mosaic.

Pregnancies are now being reported resulting from fertilization of donor oocytes in women with ovarian failure. A case of triplets in a Turner mosaic is reported herein following transfers of embryos resulting from donor oocytes. She had previously demonstrated a normal sized uterine cavity by hysterosalpingography. The opinion from our group was that she should consider selective reduction but a perinatology consult thought she should have a favorable outcome. Her pregnancy was complicated by polyhydramnios, pre-term labor, and eventual fetal demise at 25 and 27 weeks of all three fetuses. Natural pregnancies in patients with gonadal dysgenesis have been reported in at least 138 patients. Many aborted or had stillbirths and this high rate of fetal mortality has been ascribed to chromosomal abnormalities. The continued use of donor oocytes will provide data to evaluate whether there will continue to be a higher spontaneous abortion rate and complications in second and third trimesters in Turner's pregnancies even in single pregnancies. The outcome of this case can at least be provided to future gonadal dysgenesis patients with triplets to help them in their decision as to whether or not to have selective reduction.

Adult↗

Pulmonary hypoplasia in mice homozygous for the cartilage matrix deficiency (cmd) gene: a model for human congenital disorder.

As a potential model for the study of pulmonary hypoplasia in the lethal chondrodystrophies in man, lungs of day 18 mouse fetuses homozygous for cartilage matrix deficiency (cmd) were studied by biochemical, histological, and morphometric techniques. Wet and dry mutant lung weights were 30% less than corresponding normal lung weights. Total DNA and protein contents per whole mutant lung were decreased by 23% and 29%, respectively. An increased number of smaller-than-normal primary saccules were observed in histological sections of mutant lungs, which correspond to the difference in lung wet weight. The thoracic volume of mutants was decreased by an average of 38%. Amniotic fluid volume measurements indicated polyhydramnios in the mutant. The smaller-than-normal thoracic cavity observed in the cmd mutant, imposing a significant restriction on the developing lungs, is the most likely mechanism of pulmonary hypoplasia in this form of chondrodystrophy-confirming that reported for the cho mouse mutant.

Animals↗

A potential pitfall in the ultrasonographic diagnosis of fetal encephalocele.

Abnormalities of the fetal neural axis may be diagnosed prenatally utilizing ultrasonography. Attempts to increase the sensitivity of ultrasonography in the detection of these anomalies run the risk of increasing the false-positive diagnoses. Since the prenatal diagnosis of neural tube defects significantly affects the clinical management of the pregnancy, a false-positive diagnosis of neural tube anomaly must be avoided. The authors describe several cases of patients with polyhydramnios in which the fetal ear protruded into the amniotic fluid, simulating the appearance of an encephalocele on ultrasonography.

Adult↗

Amniotic fluid volume in large-for-gestational-age fetuses of nondiabetic mothers.

Large-for-gestational-age (LGA) fetuses, especially those whose birth weight is greater than 4000 g, are at elevated risk for obstetrical complications. Prenatal diagnosis of the condition has been limited by the inaccuracy of fetal weight estimation and by low positive predictive values of other sonographic parameters. We studied 412 fetuses, 35 LGA and 377 non-LGA, who were scanned within 1 week of delivery, to determine if assessment of amniotic fluid volume can be used to improve the accuracy of fetal weight estimation for diagnosing or excluding LGA. In our study, the positive and negative predictive values of fetal weight estimation alone were 47% and 95%, respectively. The distribution of amniotic fluid volumes in LGA and non-LGA fetuses differed significantly (P less than .001). Polyhydramnios occurred more frequently in LGA fetuses than non-LGA fetuses (17% vs 8%) but had little effect on the positive predictive value of a fetal weight estimate above the 90th percentile. Oligohydramnios occurred less frequently in LGA than non-LGA fetuses (3% vs 19%) and improved the negative predictive value of fetal weight estimation. In particular, the combination of oligohydramnios and a fetal weight estimate below the 90th percentile virtually excluded the possibility of LGA.

Amniotic Fluid↗

Fetal micrognathia: associated anomalies and outcome.

The purpose of this study was to evaluate the spectrum of sonographic findings, karyotypic abnormalities, and clinical outcome in cases of fetal micrognathia. Twenty fetuses with sonographically identified micrognathia were identified between 15 weeks' gestation and term. Five of 20 fetuses (25%) had abnormal karyotypes, including three with trisomy 18 and one each with trisomy 13 and trisomy 9. Sixteen of the 20 fetuses (80%) did not survive: Ten died in utero or during the neonatal period, and six pregnancies were terminated electively. Three of 20 fetuses (15%) had micrognathia as the sole sonographic finding. Two of these fetuses survived, one with growth retardation and one with Pierre Robin syndrome. Thirteen of 20 pregnancies were complicated by polyhydramnios. The diversity of the syndromes represented in our cases of micrognathia indicates a wide breadth of possible diagnoses when micrognathia is encountered prenatally. The poor prognosis and associated karyotypic and lethal anomalies are remarkable, with survival of only four of 20 fetuses in this report.

Abnormalities, Multiple↗

Color Doppler ultrasonography in the identification of communicating vessels in twin-twin transfusion syndrome and acardiac twins.

This study evaluates the role of color Doppler ultrasonography in the identification of the communicating placental vessels in pregnancies with twin-twin transfusion syndrome and acardiac twins. In 18 pregnancies with twin-twin transfusion syndrome and two with an acardiac twin, color Doppler studies of the placental vasculature were performed before fetoscopy for laser coagulation of the communicating vessels. In six cases of twin-twin transfusion syndrome the placental attachment of the intertwin membrane could be visualized. Pulsatile arterial blood flow was observed from the donor to the recipient twin that disappeared after laser therapy. In both cases of acardiac twins, one communicating vessel with pulsatile and another vessel with nonpulsatile blood flow in the opposite direction could be identified. Color Doppler imaging is unlikely to play a major role in assisting endoscopic laser separation of chorioangiopagus in patients with acute polyhydramnios, but it may prove to be useful in the early identification of pregnancies at risk of developing twin-twin transfusion syndrome.

Acute Disease↗

The significance of high umbilical venous blood flow measurements in a high-risk population.

We report a statistical analysis of 893 high-risk patients who underwent Doppler sonographic estimation of umbilical venous blood flow within 2 weeks of delivery. Patients with red cell isoimmunization were excluded. In a total of 84 patients, the umbilical venous flow rate was above the 95th centile for normal pregnancy. This finding was associated significantly with an increased prevalence of maternal diabetes mellitus, polyhydramnios, fetal abnormalities, premature delivery, low 5 min Apgar scores, and neonatal death. Umbilical venous flow rates per kilogram of fetal weight above the 95th centile were recorded in 93 patients. This finding was associated significantly with an increased rate of antepartum hemorrhage, premature delivery, low 5 min Apgar scores, longer stays in intensive care nursery, and neonatal death. Low umbilical venous blood flow rates have been investigated extensively and associated with impaired perinatal outcome. The work reported in this paper indicates that a percentage of fetuses will have abnormally high umbilical venous flow rates and that this is also indicative of increased risk.

Apgar Score↗

Effect of indomethacin on individual amniotic fluid indices in multiple gestations.

To determine the effect of indomethacin on the amniotic fluid index of individual fetuses in multiple gestations, we evaluated seven sets of twins and two sets of triplets in preterm labor (eight cases) or with polyhydramnios (one case). The dose of oral indomethacin was either 25 mg every 12 hours or 25 mg every 6 hours. The amniotic fluid volume of individual amniotic sacs was estimated serially by the amniotic fluid index. When an oral dose of indomethacin of 25 mg every 6 hours was used, oligohydramnios eventually occurred in five of eight amniotic sacs and a subjective decrease in amniotic fluid occurred in one sac. Oligohydramnios was detected in only one of 13 amniotic sacs when the dose of indomethacin was 25 mg every 12 hours. The amniotic fluid volume returned to normal in these seven amniotic sacs within 4 days of discontinuing indomethacin. We conclude that maternal indomethacin therapy has a variable effect on the individual amniotic fluid volumes in multiple gestations.

Amniotic Fluid↗

Three-dimensional ultrasonographic appearance of the fetal akinesia deformation sequence.

OBJECTIVE: To present the appearance of the fetal akinesia deformation sequence by three-dimensional ultrasonography after four-dimensional ultrasonographic scanning. METHODS: Three-dimensional surface-rendering images were used to show the fixed postural abnormalities of the fetal extremities and body. Four-dimensional ultrasonography was used to show that the postural abnormalities were fixed and to confirm the absence of fetal movements. These images were compared with the postmortem examination findings. RESULTS: Three-dimensional ultrasonographic images of 3 cases of fetal akinesia deformation sequence are presented. Surface-rendering imaging and imaging in the skeletal mode were performed to show the postural abnormalities and the arthrogryposis. CONCLUSIONS: Facilitated by polyhydramnios, three- and four-dimensional ultrasonography provided clear images of the fixed postural abnormalities, which were confirmed by postmortem examination. Although prenatal diagnosis can be easily made by conventional ultrasonography, three-dimensional ultrasonography might be used as a confirmatory approach. In addition, the quality of recent three-dimensional imaging might help prenatal counseling by providing images more readily understandable to the parents than those obtained by two-dimensional ultrasonography.

Female↗

[Foetal medicine].

This paper deals with present possibilities in the field of diagnosis and prognosis of foetal malformations and developmental disturbances. Differential diagnosis of congenital malformations, including intrauterine growth retardation (IUGR), polyhydramnios and foetal hydrops is discussed on the basis of probable or suspected etiology. Indications for in-utero treatment, applicable only in a very limited and carefully selected number of cases, are considered. In the majority of severe cases of congenital malformations diagnosed prenatally, the only factors considered are: the optimal time and way of terminating pregnancy and the possibilities of therapeutic intervention after birth. The paediatrician - neonatologist plays an important role in a multidisciplinary team dealing with the diagnosis and treatment of congenital malformations.

Diagnosis, Differential↗

[Complicated but successful resuscitation after amniotic fluid embolism].

A 33-year-old woman, gravida IV, para III with unexplained polyhydramnios was admitted to give birth at 29 weeks of pregnancy. Directly after the spontaneous breaking of the membranes, asystolia occurred. Following emergency resuscitation the sinus rhythm returned. Upon the relaparotomy due to a large filling requirement and increasing abdomen size, 'crush' lesions to the spleen and liver were visible; following this a splenectomy was carried out and tampons applied to the liver. After seven months the patient had slight residual symptoms; three weeks after his birth her son was transferred in good condition to another hospital. Amniotic fluid embolism is a rare complication of pregnancy with often serious complications for mother and child. The diagnosis is based on the clinical symptoms of cardiac arrest or sudden profound shock, acute respiratory failure, and/or disseminated intravascular coagulation, occurring in most cases during or soon after delivery, in the absence of an alternative cause (in particular primary cardiopulmonary causes). If the clinical picture deviates from the expected post-resuscitation course alternative diagnoses or resuscitation injuries must be considered.

Adult↗

Natural history of twin-twin transfusion syndrome.

OBJECTIVE: To determine the natural history of pregnancies with twin-twin transfusion syndrome (TTTS). STUDY DESIGN: All cases of TTTS at our institution since 1991 and in a MED-LINE search since 1966 were retrospectively reviewed. The prenatal diagnosis of TTTS required the presence of monochorionic/diamniotic placentation (absence of twin-peak sign, thin membrane, single placenta, same sex) and of polyhydramnios (largest pocket > 8 cm) in one sac and oligohydramnios (largest pocket < 2 cm or stuck twin) in the other. Only cases diagnosed at < or = 28 weeks were included. Upon diagnosis, all patients were counseled as to the availability, risks and benefits of serial amniocentesis, laser therapy, septostomy, umbilical cord ligation, and other medical and surgical interventions. RESULTS: Of 29 pregnancies identified at our institution with the above strict criteria for TTTS, 5 (17%) declined in utero therapy and were managed expectantly. The mean gestational age at presentation was 19.2 weeks (range, 16-28) and at delivery, 33.8 weeks (range, 22-41). Four (40%) of the twins survived past the neonatal period, and of the three with follow-up, all are free of neurologic sequelae despite the death in utero of their cotwin. From the literature, 136 fetuses with TTTS as defined above and managed expectantly were identified; 37 (27%) survived; 75% (9/12) of survivors with follow-up are neurologically normal. The most recent four studies have reported survival of untreated cases of 50% (17/34) when diagnosed at < or = 26 weeks and of 63% (20/32) when diagnosed at < or = 28 weeks. CONCLUSION: The perinatal survival of TTTS pregnancies managed without in utero procedures is approximately 30% overall and 63% in the four most recent series when diagnosed at < or = 28 weeks. The success of in utero therapeutic intervention should be assessed by randomized studies or at least compared to that in similar cases managed without such intervention.

Amniocentesis↗

The importance of investigating for uniparental disomy in prenatally identified balanced acrocentric rearrangements.

We report the finding of paternal isodisomy for chromosome 14 in a fetus found to have a der(14;14)(q10;q10) by amniocentesis. The pregnancy was complicated by severe polyhydramnios and elevated amniotic fluid alpha-fetoprotein (AFP). The infant showed features consistent with paternal uniparental disomy (UPD) including postnatal growth retardation, poor respiratory function, feeding difficulties, and evidence of hypertrophic cardiomyopathy. The present case, in addition to other reported cases of UPD involving balanced acrocentric rearrangements, supports testing for UPD in prenatally detected Robertsonian translocations and isochromosomes.

Adult↗

Prenatal diagnosis of meconium peritonitis--a case report with literature review.

A case of meconium peritonitis that was diagnosed ultrasonographically in the second trimester is presented. Fetal ascites, intraabdominal calcification and polyhydramnios were detected on antenatal ultrasonography. Specks of calcification were also demonstrated on abdominal radiography postnatally. The obstetric and neonatal implications of meconium peritonitis are discussed with literature review.

Adult↗

Perinatal factors associated with neural tube defects (anencephaly [correction of anancephaly], spina bifida and encephalocele).

The objective of the present study was to determine the presence of risk factors for the occurrence of neural tube defects. Data for 33,535 births which occurred at Hospital do Servidor Público Estadual de São Paulo from July 1973 to December 1986 were collected in a prospective manner as recommended by "Estudo Colaborativo Latino-Americano de Malformações Congênitas" (ECLAMC, Collaborative Latin American Study on Congenital Malformations). Twenty-six cases of neural tube defects were detected (0.77/1000 births). Of these, 11 were cases of spina bifida (0.39/1000 births), 9 of anencephaly (0.27/1000 births) and 6 of encephalocele (0.18/1000 births). We observed a higher frequency of polyhydramnios, premature labor, Apgar scores of less than 7 at the first and fifth minutes, low birth weight and intrauterine growth retardation.

Anencephaly↗

A ten-year study of anencephaly.

The incidence of anencephaly at the Los Angeles County General Hospital during the period of July, 1948 through June, 1958 was 0.049 per cent. Worldwide the range of reported incidence is 0.012 per cent to 0.671 per cent. In this study 65 per cent of the total number of anencephalics delivered were females, a predominance agreeing with reports by other investigators. Polyhydramnios appeared in 38 per cent of the anencephalic pregnancies of this study, while 15 per cent of the deliveries were complicated by placenta praevia.A significant number (48 per cent) of the multiparae gave a history of previous stillbirths or abortions. The present study does not support observations by other investigators which indicated an increase in anencephalic births during the winter months. Evidence from stillbirth statistics would seem to indicate that anencephaly is primarily a genetically induced phenomenon. Further evaluation and analysis of the predominance of females in anencephalic stillbirths and abortions is suggested, in order to study whether the observed secondary or birth sex ratio (in which males predominate) is, in fact, due to genetic effect.

Abnormalities, Severe Teratoid↗

Amnioreduction.

Pregnancies complicated by hydramnios are at increased risk of both maternal and fetal complications. Since amniotic pressure is elevated in polyhydramnios, it has been suggested that the complications may be mediated by anomalies connected with amniotic pressure. The rationale behind amnioreduction is thus to restore normal amniotic pressure by draining a large amount of amniotic fluid volume in order to reduce maternal discomfort, improve uteroplacental perfusion, and prolong pregnancy by limiting the risk of preterm labour and rupture of the membranes. The procedure has a complication rate in terms of spontaneous premature rupture of membranes, abruptio placenta, or chorioamnionitis, regardless of the technique adopted.

Drainage↗

Excess of amniotic fluid: pathophysiology, correlated diseases and clinical management.

The evaluation of amniotic fluid volume represents, together with the evaluation of fetal growth, one of the most important indicators of fetal wellbeing. Amniotic fluid is produced by fetal urines with small aliquots from fetal membranes and lung fluids. The main determinant of its turnover is fetal swallowing together with a small absorption through fetal skin and membranes. The pathologic conditions that lead to an excess of amniotic fluid are represented by excessive production or by a reduction of the physiologic turnover. The most frequent cause is gestational diabetes. This complication can be diagnosed in 2-3% of pregnancies, as a result of increased insulin resistance, most frequently found in association with risk factors such as high maternal BMI. Placental hormones, such as HPL, act indeed to increase insulin resistance and can therefore lead to post-prandial hyperglycemia in predisposed mothers. Maternal hyperglicemia leads in turn to fetal hyperglycemia and fetal hyperinsulinemia. Increased amniotic fluid volume is not a constant feature, being associated with the most severe cases, but its evaluation is very useful in the clinical management. The resulting increase in uterine volume, also related to accelerated fetal growth, is a potential cause of premature delivery, a severe complication also considering the delay in fetal lung maturation observed with fetal hyperinsulinemia. The evaluation of the degree of polyhydramnios has to be pursued by ultrasound. Precise diagnostic steps must be followed in order to rule out other potentially associated causes. Amongst these, malformations of the intestinal tract, such as hesophageal atresia, that are associated with decreased or absent fetal swallowing, must be considered. The clinical workout must therefore include an ultrasound evaluation of fetal morphology together with an oral glucose tolerance test. The therapeutic approach will be defined according to the definition of the underlying cause. Many cases will benefit from bedrest, tocolysis and induction of lung maturation.

Diabetes, Gestational↗