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Umbilical cord pseudocyst in a fetus with trisomy 18.

An umbilical cord pseudocyst was detected in the 28th week of gestation in a fetus complicated with growth restriction and polyhydramnios. The combination of cord pseudocysts, growth restriction, and polyhydramnios prompted us to perform a detailed ultrasonographic examination (gray scale and three-dimensional), which revealed the presence of micrognathia, overlapping fingers, and congenital heart defects, features characteristic of trisomy 18. Karyotyping confirmed a diagnosis of trisomy 18. After spontaneous labor onset, the infant was delivered at 31 weeks of gestation, and died soon after delivery. An umbilical cord pseudocyst is a good marker for the prenatal detection of trisomy 18.

Adult↗

Clinical evaluation of the risk of twin-to-twin transfusion syndrome using the relative power contribution of fetal heart rate fluctuations.

OBJECTIVES: In twin pregnancies, it has been suggested that fluctuations of the two fetal heart rates should be considered as two variates that affect each other. We therefore investigated whether the relative power contribution (RPC) of heart rate fluctuation between twins reflects the clinical severity of twin-to-twin transfusion syndrome. STUDY DESIGN: Sixty-three cases of twin pregnancy including 43 monochorionic twins and 20 dichorionic twins were studied. Thirteen monochorionic twins with polyhydramnios in one twin were regarded as twin-to-twin transfusion syndrome (TTTS). Of the 13 TTTS cases, 8 cases with polyhydramnios in one twin and oligohydramnios in the other were deemed to be a 'stuck' twin. The RPC of the very low frequency domain (VL; 0.0125-0.0625 Hz) of fetal heart rate fluctuation in the twin fetuses of monochorionic and dichorionic pregnancies was obtained within a week of delivery. The relationship between the value of the RPC and the outcome of these twins was examined. RESULTS: For both monochorionic and dichorionic twins the RPC of twin fetuses was significantly higher in TTTS twins than in twins without TTTS. In particular, in pregnancies that resulted in fetal death, early neonatal death, or hydrops of one of the twins, this twin had a higher RPC than the other twin. No significant difference was observed in the RPC value between twins of either monochorionic or dichorionic pregnancies that did not develop TTTS. Serial changes in RPC values were followed in 7 cases of TTTS. The RPC value rose rapidly just before delivery in three cases with resultant poor outcome. CONCLUSION: A rapid change in the RPC of twin fetuses measured using the VL frequency domain of fetal heart rate fluctuations may predict poor outcome in twin pregnancies.

Female↗

Laser ablation of foetal microcystic lung lesion: successful outcome and rationale for its use.

OBJECTIVE: A foetus with an echodense, microcystic lung lesion complicated by non-immune hydrops has a high mortality rate. Because of the limited treatment options available, laser ablation was offered in an attempt to reduce the size of the lesion and reduce hydrops fetalis. METHODS AND RESULTS: A 25-year-old nulliparous woman presented at 21 weeks gestation. Ultrasound revealed a male foetus with a large microcystic right sided lung lesion that completely occupied the right hemithorax causing marked mediastinal deviation. The foetus was hydropic with polyhydramnios. Percutaneous laser ablation of the large microcystic lung lesion was performed under direct ultrasound control. At a power setting of 45 W, and using a 400 microm Nd:YAG laser fibre, the core of the lesion was photocoagulated in pulses lasting 5 s at 5 s intervals. The total target dose was 1683 J. This led to a marked but temporary reduction in amniotic fluid volume. The patient was commenced on sulindac and amniodrainage was performed at 27 weeks as reaccumulation of the polyhydramnios occurred. Pre-eclampsia complicated the pregnancy at 38 weeks gestation and an emergency caesarean section was performed. The baby underwent a thoracotomy and lobectomy at 48 h of age, made a good recovery, and is currently well 8 weeks post-delivery. CONCLUSIONS: In cases of cystic lung lesion complicated by hydrops, laser ablation should be considered as a treatment option.

Adenoma↗

Alcohol injection for the intrauterine treatment of chorioangioma in a pregnancy with transfusion resistant fetal anemia: a case report.

Chorioangiomas are usually small, clinically inevident, benign vascular lesions of the placenta, but larger ones may cause serious perinatal and neonatal complications. There is need for in utero intervention in these fetuses. Several interventions are described to relieve pathophysiologic insult on fetus. Alcohol injection is one of the therapeutic interventions. In this case, we present a patient with chorioangioma and early onset of hydrops fetalis and polyhydramnios at 24th week of gestation. Successful intratumoral injection of absolute ethyl alcohol relieved hydrops fetalis and polyhydramnios. Unfortunately, pregnancy ended at 28th week and a 1,330 g fetus was delivered.

Adult↗

Abnormal second-trimester ultrasounds: an indication for karyotype.

There are limited data on the risks of aneuploidy for normal-appearing fetuses with amniotic fluid volume (AFV) abnormalities. The purpose of this study was to determine the relative risks of aneuploidy associated with second-trimester abnormal AFVs and fetal structural anomalies in a cohort of 2,823 singleton, viable fetuses. Compared to gravidas younger than 35 with normal ultrasounds, normal fetuses had an increased incidence of aneuploidy with polyhydramnios, increased AFV, i.e. subjectively increased but normal by maximum vertical pocket (MVP) and/or amniotic fluid index (AFI), oligohydramnios, and decreased AFV, i.e. subjectively decreased but normal by MVP and/or AFI. These included: increased AFV [odds ratio = 12.9, 95% confidence interval (CI) = 4.1-39.4], polyhydramnios (odds ratio = 4.6, CI = 0.6-36.8), and decreased AFV (odds ratio = 3.8, CI = 1.1-13.1). There were no aneuploidies among the 28 normal fetuses with oligohydramnios. Anomalous fetuses had a markedly increased incidence of aneuploidy (odds ratio = 13.4, CI = 7.2-24.9). We conclude that fetal structural anomalies as well as isolated AFV abnormalities were associated with an increased risk for aneuploidy.

Adult↗

Amniotic fluid pressure in twin-to-twin transfusion syndrome: an objective prognostic factor.

Severe twin-to-twin transfusion syndrome presenting before 28 weeks' gestation is associated with a high neonatal mortality and morbidity due to polyhydramnios-related very premature delivery or intrauterine death of one or both twins. Management options include serial amniodrainages or laser coagulation of the intertwin placental anastomoses; however, early antenatal prognostic factors are lacking. Serial amniocenteses were performed in 9 pregnancies with twin-to-twin transfusion syndrome presenting with second-trimester polyhydramnios, and serial measurements of amniotic fluid pressure were made. Although in 8 cases the pre-drainage pressure was above the 95th centile of the normal range for singleton pregnancies, the pressures were lower in the pregnancies resulting in two livebirths than in the cases where one or both babies died. This study suggests that patients presenting with intraamniotic pressure > 17 mm Hg cannot be safely managed by serial amniodrainages.

Amniocentesis↗

Prenatal diagnosis of laryngotracheoesophageal clefts.

Seven infants with laryngotracheoesophageal (LTE) clefts who had abnormal prenatal fetal sonographs were reviewed retrospectively to evaluate the antenatal scan characteristics, clinical features at presentation and associated malformations. The prenatal scans demonstrated polyhydramnios, lung cysts and an absent stomach in all. The mode of delivery was by emergency lower segment cesarean section for fetal distress, in all 7 babies. The mean gestational age at delivery was 36 weeks (range 33-38) and intrauterine growth retardation was seen in 4 neonates. A combination of endoscopy, surgery and autopsy confirmed LTE cleft type 4 in 5 patients, type 3 and type 2 in a patient each. Esophageal atresia and lower pouch tracheoesophageal fistula was present in all. Agastria was seen in 4 and microgastria in 3 children. Lung abnormalities were seen in all 7 infants and they included congenital lung cysts (4 patients), absent lung lobulation (3 patients), bronchogenic cysts (2 patients), cystic adenomatoid malformation (1 patient) and bronchoesophageal fistula (1 patient). The mortality was 86% and the sole survivor had a LTE cleft type 2 which was successfully repaired. The diagnosis of LTE cleft must be considered if a prenatal scan demonstrates the triad of: (1) polyhydramnios; (2) absent stomach, and (3) presence of lung cyst. This should lead to a detailed postnatal evaluation and early diagnosis of this uncommon anomaly resulting in early counseling and suitable management.

Abnormalities, Multiple↗

Twin-to-twin transfusion syndrome complicated by spontaneous mid-trimester uterine rupture.

Twin-to-twin-transfusion syndrome (TTS) is a serious complication in about 15% of monochorionic twin pregnancies. In severe TTS, the anemic pump twin (donor) develops anhydramnios and the hypervolemic recipient tense polyhydramnios, which often first calls attention to the condition. The most common problems of TTS are fetal complications such as single or double intrauterine demise, spontaneous abortion, prematurity due to uterine distension leading to contractions, preterm rupture of membranes and ultimately neurological impairment. We report a pregnancy with TTS in which rapid development of polyhydramnios led to rupture of a scarred uterus at 19 weeks' gestation. To the best of our knowledge, this is the first report of a potentially lethal maternal complication of TTS.

Adult↗

Prenatal and postnatal management of hyperprostaglandin E syndrome after genetic diagnosis from amniocytes.

OBJECTIVE: To describe prenatal genetic diagnosis in hyperprostaglandin E syndrome (HPS) and the effect of indomethacin therapy on the course of the disease before birth and in the neonatal period. METHODS: Mutational analysis of the ROMK channel gene (KCNJ1) from amniocytes by single-strand conformational analysis and direct sequencing. Review of the clinical and laboratory findings during pregnancy and the neonatal period in two siblings affected with HPS. RESULTS: Compound heterozygosity of the fetus in KCNJ1 (D74Y/P110L) confirmed the clinical diagnosis of HPS at 26 weeks of gestation. Indomethacin therapy from 26 to 31 weeks prevented further progression of polyhydramnios without major side effects. In contrast to the elder brother, who had been diagnosed at the age of 2 months, the neonatal course was uncomplicated. Hypovolemic renal failure after excessive renal loss of salt and water could be prevented and severe nephrocalcinosis did not occur. CONCLUSIONS: Genetic diagnosis of HPS and subsequent prenatal indomethacin therapy seems to have a beneficial effect on the natural course of HPS, especially progression of polyhydramnios; therefore, extreme prematurity could be prevented. Also, postnatally the early diagnosis allows the effective water and electrolyte substitution before severe volume depletion.

Amniotic Fluid↗

Pathological pregnancies. Results of amniotic fluid studies and fetal outcome.

Late amniocenteses (greater than 20 weeks' gestation) were performed in 114 pregnancies with no a priori genetic risk, but referred because of abnormal clinical and/or ultrasound findings suggesting fetal malformations. Reasons for referral included polyhydramnios (51 cases), oligohydramnios (15 cases), fetal growth retardation (FGR) (16 cases) and abnormal fetal ultrasound findings excluding anencephaly (32 cases). In 42 of these cases, referral was motivated by a combination of the above abnormal findings. When polyhydramnios was the sole anomaly (25 cases), 5 fetuses were malformed (20%), abnormal fetal karyotype and/or elevated amniotic fluid alphafetoprotein (AFP) were demonstrated in 2 cases. Oligohydramnios was the sole anomaly in one case; the infant died of prematurity. Fetal growth retardation was the sole anomaly in 14 cases, 11 otherwise normal newborns were small for date, 2 died at birth and 1 was malformed (1/14, 7%). In this group all fetal karyotypes were normal and in 2 cases amniotic fluid AFP were increased. In the 32 pregnancies without abnormal amniotic fluid volume and/or FGR and with fetal malformation(s) suggested by ultrasound, all malformations except one (ovarian cyst possibly ruptured during birth) were confirmed at birth, amniotic fluid AFP was elevated, and/or karyotype was abnormal in 6 cases. In 42 pregnancies where more than one alarm sign was present, abnormal karyotype and/or elevated amniotic fluid AFP level were recorded in 21 of the 39 cases where amniocentesis was performed, 33 fetuses were malformed (79%) and 13 died in the perinatal period (31%). The high incidence of abnormal results of amniocentesis found in this survey of pathological pregnancies, particularly in those with multiple alarm signs, emphasizes the need for amniocentesis in these situations.

Congenital Abnormalities↗

Survey of congenital tumors in perinatal necropsies.

In an audit of 17,417 necropsies from 1939 to 1989 at the Royal Women's Hospital, Melbourne, Victoria, 46 congenital tumors comprising 24 teratomas, 8 vascular tumors, 6 neuroblastomas, three rhabdomyomas, two mesoblastic nephromas, one thyroid adenoma, one hepatic adenoma and one cerebellar medulloblastoma were found. The teratomas were generally large tumors and, because of their size and location, incompatible with extrauterine life. Ten teratomas were associated with polyhydramnios, three with obstructed labour, five of the fetuses were hydropic and four had malformations at sites distant to the tumor. Twenty teratomas occurred in stillbirths, half of whom were macerated. The vascular tumors were associated with polyhydramnios in three cases and hydrops fetalis in two. The neuroblastomas were all incidental findings. Four were intra-adrenal, one was an adrenal tumor which had metastasized to the liver and the remaining case was a small paravertebral lesion. Two of the three rhabdomyomas were multiple and one of these occurred in a case of tuberous sclerosis. One of the mesoblastic nephromas occurred in a hydropic fetus who had the Arnold-Chiari malformation. The thyroid and hepatic adenomas were small incidental lesions. The cerebellar medulloblastoma had led to marked hydrocephalus. Congenital tumors have different incidence, presentation and behaviour than those in childhood or adult life. The association of congenital tumors with congenital malformations and hydrops fetalis should always be remembered.

Female↗

Dialysis and pregnancy--a case report and review of the literature.

We report on a patient with an eight-year history on maintenance hemodialysis treatment without residual renal function in whom pregnancy was successfully managed through to the 29th week. During this time, under carefully modified dialysis treatment, the nephrologic course, as well as materno-fetal flow relationships were unremarkable. Fetal development was appropriate for gestational age. However, pregnancy was complicated by polyhydramnios, which necessitated i.v. tocolysis. In the 28 + 6th week of gestation, cesarean section was performed because of an antibiotic-resistant fever of unclear origin which ceased within two days of delivery. Although the postnatal course of the adequately developed baby was complicated by the respiratory distress syndrome, normal development continued. We emphasize that the intensive interdisciplinary cooperation of nephrologists and obstetricians is imperative for the successful management of pregnancy under these conditions. In these pregnancies, the main fetal problems consist of premature labor because of polyhydramnios, preterm delivery, intrauterine growth retardation and stillbirth. The mother is threatened by the development of superimposed pre-eclampsia, left ventricular failure because of volume overload and progressive anemia. In order to maintain a well-balanced homeostasis, intensification of dialysis therapy by an increase in frequency and duration is the most important therapeutic approach. Accurate fetal monitoring including frequent examination of the feto-maternal circulation by Doppler sonography as well as attentive surveillance of the mother is required to recognize the above mentioned complications.

Adult↗

Fetal lung masses: prenatal course and outcome.

We describe 25 cases of echogenic or complex fetal lung masses seen sonographically and suspected of being cystic adenomatoid malformations or sequestrations of the lung. On the basis of prenatal sonographic appearance, 40% of fetuses were suspected of having type 1, 20% type 2, and 40% type 3 cystic adenomatoid malformations or sequestrations. Sixteen (64%) of the 25 fetuses with lung masses survived the perinatal period, and 80% of the nonaborted fetuses survived. Eleven infants (69% of liveborns) had no respiratory symptoms at birth. Nine of the survivors underwent surgical resections of their masses after birth, whereas the other seven children are being followed conservatively. The postnatal diagnoses revealed that four of the fetuses had sequestrations, one had a sequestration with elements consistent with cystic adenomatoid malformation, and two who were thought to have type 1 cystic adenomatoid malformation had an esophageal duplication cyst and a thoracic neuroblastoma, respectively. All the other infants who had a pathologic diagnosis or postnatal imaging had cystic adenomatoid malformations. Increasing mediastinal shift was associated with decreasing survival as 90% of fetuses with no mediastinal shift are alive, whereas 50% of the nonaborted fetuses with a severe mediastinal shift survived. Follow-up scans in utero were available in 15 cases. The size of the mass became smaller in 53% during gestation. Seventy-one percent of pregnancies had normal amniotic fluid volumes and 29% were complicated by polyhydramnios. Survival of nonaborted fetuses was 100% in pregnancies with normal amniotic fluid compared with 50% in those with polyhydramnios. Eight percent of the fetuses with chest masses had additional structural abnormalities and were karyotypically abnormal. In conclusion, many fetuses with lung masses show improvement of the sonographic findings in utero, and many infants may not be symptomatic at birth. Of the survivors in this series, only slightly greater than half underwent surgery.

Abortion, Spontaneous↗

Fetal arterial Doppler studies in twin-twin transfusion syndrome.

This cross-sectional study investigates the circulatory profile of the donor and recipient fetuses in pregnancies with twin-twin transfusion syndrome manifested by acute polyhydramnios during the second trimester of pregnancy. Doppler investigations of the umbilical arteries and of the fetal descending thoracic aortas and middle cerebral arteries were performed in both fetuses of 27 pregnancies with twin-twin transfusion syndrome at 18 to 25 (mean, 21.7) weeks' gestation. Significant differences from normal values were increased umbilical artery pulsatility index and decreased aortic mean velocity in both donor and recipient fetuses, decreased middle cerebral artery pulsatility index in recipients and decreased middle cerebral artery mean velocity in donors. Increased umbilical artery pulsatility index in some donor and recipient fetuses may be the consequence of abnormal placental development and polyhydramnios-related compression, respectively. Doppler findings in the fetal circulation are compatible with hypovolemia in the donor and hypervolemia with congestive heart failure in the recipient.

Acute Disease↗

The ultrasonographic appearance and outcome for fetuses with masses distorting the fetal face.

Our objective was to determine the appearance, cause, and outcome of fetal face masses diagnosed antenatally by ultrasonography. Over a 6 year period, 10 consecutive fetuses with facial masses were identified. Ultrasonographic findings, neonatal pathologic findings, and outcome data were correlated. Four (40%) of the 10 fetuses died, including one with a palatal teratoma associated with a Dandy-Walker malformation and three with intracranial teratomas--one of which was associated with hydrops fetalis. Among the survivors, one fetus had a dacryocystocele that was managed conservatively and one had drainage of a salivary gland cyst. The remaining four neonates had successful excision of their tumors in the neonatal period and survived; these infants had a nasal teratoma, a thyroid teratoma, a gingival granular cell tumor, and a scalp hemangioma. Four of the 10 pregnancies had associated polyhydramnios, three of which ended in stillbirth or neonatal death. In conclusion, 40% of the fetuses with antenatal diagnosis of fetal facial masses did not survive. If those with intracranial teratomas are removed from this group, one of seven (14%) fetuses with extracranial masses died. The intracranial teratomas were uniformly fatal. Polyhydramnios was associated with poor outcome.

Facial Neoplasms↗

[Testicular feminization syndrome associated with acute hydramnios: apropos of 1 case].

We describe the first, to our knowledge, case of a feminizing testicle associated with acute polyhydramniosis observed at 21 weeks 3 days gestation. There was no fetal malformation or maternal disease that would explain the polyhydramnios. Prenatal diagnosis of feminizing testicle can now be made but is very difficult to suspect without similar family history or a suggestive ultrasonographic sign. Many fetal malformations have been directly linked to different causes of feminizing testicle, but for other malformations such as acute polyhydramnios, the pathogenesis remains unknown.

Adult↗

[The neonatal form of Bartter's syndrome: current findings in etiology and physiopathology].

I. Time has come to distinguish "Bartter syndrome" from "Bartter disease". The latter is an autosomal recessive renal tubulopathy which manifests itself mostly during infancy and childhood. II. Bartter disease is caused neither by a primary renal potassium loss nor by a primary renal hyperprostaglandinism. All evidence is in favor of a defect in the chloride pump located at the thick ascending limb of Henle's loop. III. The most severe expression of Bartter disease is its neonatal form which is characterized by polyhydramnios, premature delivery and a life threatening sodium chloride loss during the early weeks of life. It takes several weeks before sodium wasting turns into renal potassium wasting. IV. Polyhydramnios not associated with echographically detectable fetal malformation is highly suggestive of Bartter disease. Prenatal diagnosis is based on the combination of fetal polyuria and elevated chloride in the amniotic fluid. V. In this setting the administration of indomethacin is useless and even dangerous from the 32nd week of gestation on. Similarly, indomethacin should not be given to the newborn Bartter patient for the first weeks and months of life. Treatment at that stage consist mainly of the administration of large amounts of fluid and sodium chloride. VI. Indomethacin can be used as soon as children with Bartter disease stop growing normally and preferably after the age of 18 months when kidney maturation is established. The daily dose should not exceed 2.5 mg/kg body weight. VII. Hypercalciuria is part of (the neonatal form of) Bartter disease and it is so severe that nephrocalcinosis seems to be the rule. This hypercalciuria is the direct consequence of the chloride reabsorption defect in Henle's loop. Research is needed to find an adequate solution to this problem.

Bartter Syndrome↗

[Clinical characteristics and pathologic study of placental chorioangioma].

OBJECTIVE: To describe the clinical characteristics and gross picture of placental chorioangioma. METHODS: Clinicopathologic data from twelve cases of placental chorioangioma were retrospectively studied. RESULTS: (1) In twelve cases pathologically diagnosed as placental chorioangioma, five cases were consistent with the clinical diagnosis; two cases were misdiagnosed as placental abruption; one case was misdiagnosed as lipoma; one case was misdiagnosed as placental cyst; and three cases were missed. Color Doppler ultrasound examination was performed in four cases ante partum, in which two cases were diagnosed correctly and two cases were missed. (2) Premature labor occurred in three cases of chorioangioma, two of which were associated with polyhydramnios. Two were complicated with pregnancy-induced hypertension syndrome. Fetal death occurred in two cases and fetal abnormality in one case and neonatal asphyxia in four cases. (3) Placental chorioangiomas of all cases ranged from 2 cm x 2 cm x 2 cm to 11 cm x 8 cm x 8 cm in size. There was single tumor in nine cases and two tumors in three cases. The tumor appeared deep red in six cases, grayish red in three cases, pale yellow in one case, partial deep red and partial gray white in one case, partial deep red and partial pale yellow in one case. CONCLUSIONS: Placental chorioangioma can induce several complications such as premature labor, fetal death, polyhydramnios and neonatal asphyxia. Color Doppler is helpful to differential diagnosis of placental masses particularly placental chorioangioma, though the later is difficult to diagnose ante partum. Placental chorioangioma is varied in size with deep red in appearance for most of them and maybe yellow or gray white due to mixed with other tissues or lack of blood supply.

Adult↗