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PubMed1978

Myotonia dystrophica: obstetric complications.

We describe the course and outcome of 23 pregnancies in six women affected by myotonia dystrophica in a large Labrador family. A seventh patient had 14 pregnancies, so that the infertility commonly described in this disorder did not apply to this family. The rate of complications was high, particularly in respect of polyhydramnios, premature onset of labor, cesarean section, postpartum hemorrhage, and neonatal deaths. Polyhydramnios indicated that the fetus was abnormal. Direct observation of an atonic uterus at cesarean section supported other evidence that uterine muscle may be affected. We also report a newborn infant with the congenital form of myotonic dystrophy, a manifestation which has been attributed to the effect of a maternal intrauterine factor upon a fetus carrying the gene.

Female↗
PubMed1991

Congenital adenomatoid malformation of the lung: current management and prognosis.

A retrospective 10-year review of congenital adenomatoid malformation (CAM) included 10 cases diagnosed in utero by ultrasound and 13 cases that presented postnatally. Two prenatally diagnosed cases were aborted because of associated lethal anomalies. All remaining patients underwent resection. Up to one third of all cases, whether diagnosed prenatally or postnatally, were asymptomatic. Resection is recommended to avoid respiratory distress, infection, or associated malignancy. There were 5 nonsurvivors, including 2 therapeutic abortions and 3 who died postoperatively. All had either polyhydramnios or ascites. All patients who died postoperatively had a respiratory arrest at birth and underwent immediate lobectomy. All died on the first day of life after a brief period and were found to have associated pulmonary hypoplasia. One had undergone a prenatal transthoracic cyst aspiration at 34 weeks gestation in an attempt to allow lung growth and prevent premature labor. Prenatal ultrasound findings suggestive of poor prognosis included polyhydramnios, ascites, mediastinal shift, and noncystic type III CAM. However, there is a spectrum of severity of CAM. The lesion can either regress and be asymptomatic at birth, or it can progress to cause either fetal death from hydrops or neonatal death caused by associated pulmonary hypoplasia. These findings should be considered in prenatal counseling for CAM.

Cystic Adenomatoid Malformation of Lung, Congenita↗
PubMed1995

Prenatal diagnosis of esophageal atresia.

The prenatal sonographic detection of esophageal atresia (EA) has been possible for more than a decade and relies on the finding of a small or absent fetal stomach bubble associated with maternal polyhydramnios. The aims of this study were to assess the accuracy of this technique and to determine whether the outcome of prenatally diagnosed EA differs from its postnatal counterpart. All fetal sonograms performed between January 1989 and October 1993 demonstrating a small or absent fetal gastric bubble were reviewed together with all neonates with EA treated during the same period. Eighty-seven fetuses with a small (n = 53) or absent stomach bubble (n = 34) were identified, representing 1.4% of all fetal sonographic surveys. Esophageal atresia was present in 15; in 13 of these, the maternal amniotic fluid volume was increased. The positive predictive value of an absent stomach bubble and polyhydramnios was 56%, and the sensitivity of prenatal sonography in the diagnosis of EA was 42%. One neonate with EA had the prenatal diagnosis established at another institution, yielding a total of 16 cases of prenatally diagnosed EA for analysis. Seven (44%) of these had trisomy 18. Of the remaining nine, two had isolated EA, two had laryngeal atresia and EA, and there were two late-gestational unexplained fetal deaths. Only four (25%) survived through the neonatal period. The prognosis of the fetus with EA is radically different from that of the neonate with EA.

Esophageal Atresia↗
PubMed1987

Electrolyte composition of the amniotic fluid in Bartter syndrome.

In three patients with neonatal Bartter syndrome associated with polyhydramnios, analysis of the amniotic fluid showed normal sodium, normal-to-low potassium, but high chloride concentrations. This finding clearly suggests a renal chloride reabsorption defect as the primary cause of the neonatal form of Bartter syndrome. It is suggested that whenever polyhydramnios occurs, the electrolyte composition of the amniotic fluid should first be analysed in order to establish the diagnosis of Bartter syndrome.

Adult↗
PubMed1991

Early prenatal diagnosis of congenital cystic adenomatoid malformation of the lung (Stocker's type I); a case report.

A congenital cystic adenomatoid malformation was diagnosed by ultrasound examination at 20 week's gestation. The entire right lung was cystic and elements of poor prognosis such as hydrops fetalis and polyhydramnios were present. After verification of the karyotype, abortion was performed and autopsy confirmed prenatal findings and Stocker's type I. Cystic congenital adenomatoid malformation of the lung is a rare form of congenital pulmonary disease. Our case shows that this malformation can be accurately diagnosed during the midtrimester of pregnancy by ultrasound examination. Ultrasound examination permits an evaluation of the three types described by Stocker and may reveal certain lesions associated with poor prognosis, such as anasarca or polyhydramnios. Also, it offers the possibility to save some fetuses by surgical decompression in the immediate postnatal period, or to terminate earlier pregnancies by abortion.

Adult↗
PubMed1996

Intrauterine transmission of hepatitis A virus.

BACKGROUND: Hepatitis A is a common, self-limited disease transmitted by fecal-oral contamination. CASE: A 23-year-old woman, para 2-0-0-2, developed hepatitis A at 20 weeks' gestation. At 27 weeks, ultrasound revealed polyhydramnios and fetal ascites. Hepatitis A immunoglobulin M antibody in fetal blood obtained by funipuncture confirmed acute hepatitis A infection in the fetus. Polyhydramnios and ascites persisted until 35 weeks, when the fetus developed ultrasound signs of meconium peritonitis, and delivery was accomplished uneventfully. Meconium peritonitis was diagnosed in the neonatal period and treated surgically. CONCLUSION: To our knowledge, this is the first report of intrauterine transmission of hepatitis A. The disease presented with fetal ascites and was confirmed by positive fetal blood serology.

Adult↗
PubMed2004

How can we diagnose and manage twin-twin transfusion syndrome?

Severe mid-trimester twin-twin transfusion syndrome (TTS) complicates about 15% of monochorionic twin pregnancies. If left untreated, the mortality is 80-100%. The pathophysiological prerequisite for the onset of TTS is unequal blood flow via arteriovenous placental anastomoses from the so-called donor to the recipient twin. This can result in hypovolemia, hypotension and oligo- or anuria in the donor, and hypervolemia, hypertension, polyuria and finally heart failure in the recipient. Leading sonographic signs of TTS include severe oligo- or anhydramnios and a small or absent bladder filling in the donor in contrast to polyhydramnios with increased bladder filling in the recipient. Patients might present with clinical symptoms due to massive polyhydramnios. In severe mid-trimester TTS, fetoscopic laser occlusion of the anastomosing vessels on the placental surface under local anaesthesia plus subsequent amniodrainage is the most promising therapeutic option at present. In acute TTS after 26 weeks of gestation, amniodrainage is the therapy of choice. All patients suspected of this high-risk condition should be referred to a specialized fetal medicine centre.

Amniotic Fluid↗
PubMed2005

Management of fetal mediastinal teratoma.

BACKGROUND/PURPOSE: Mediastinal teratomas are rare congenital germ cell tumors that prenatally can compress mediastinal structures and cause hydrops. Two possible presentations of massive fetal mediastinal teratoma include hydrops leading to fetal demise, or fetal esophageal and airway compression causing late-gestation polyhydramnios and preterm labor. The authors present 2 cases of fetal mediastinal teratoma that illustrate successful strategies for either of these presentations. METHODS: A 37-year-old woman carrying a fetus with a mediastinal mass and secondary hydrops at 23 weeks of gestation underwent in utero resection of the mass. Delivery was by cesarean delivery at 25 weeks because of preterm labor. A 24-year-old mother carrying a fetus with a mediastinal mass and severe polyhydramnios at 36 weeks of gestation underwent an ex utero intrapartum therapy procedure for establishment of an airway and tumor resection on uteroplacental support. RESULTS: These strategies resulted in physiologic improvement in the first case and controlled resection and resuscitation in the second. The first patient had significant sequelae of prematurity including bronchopulmonary dysplasia but is currently well at 9 months of age. The second patient is well at 1 year of age. CONCLUSIONS: Massive fetal mediastinal teratoma can result in fetal or neonatal mortality by a variety of mechanisms. Optimal prenatal and perinatal management is required to salvage fetuses compromised by this lesion.

Adult↗
PubMed2005

The ex utero intrapartum therapy procedure for high-risk fetal lung lesions.

BACKGROUND: Indications for the ex utero intrapartum therapy (EXIT) procedure have expanded to include any fetal anomaly in which resuscitation of the neonate may be compromised. METHODS: We reviewed the medical records of 9 patients after resection of lung lesions during the EXIT procedure. RESULTS: The mean gestational age at EXIT procedure was 35.4 weeks. All lung masses maintained large sizes late into gestation with mean mass volume/head circumference ratio of 2.5 at presentation and 2.2 at EXIT. Seven of 9 fetuses demonstrated hydropic changes (n = 6) and/or polyhydramnios (n = 5), and underwent prenatal intervention including thoracentesis, thoracoamniotic shunt placement, amnioreduction, and/or betamethasone administration. Overall survival after EXIT for lung mass resection was 89%. The average time on placental bypass was 65 minutes. Postnatal complications included reoperation for air leak (n = 1), reoperation for bleeding (n = 1), and death from sepsis and prematurity (n = 1). Venoarterial extracorporeal membrane oxygenation was used in 4 neonates for persistent pulmonary hypertension. Maternal prenatal complications included polyhydramnios (n = 5), preterm labor (n = 4), and chorioamnionitis (n = 1). One mother required perioperative blood transfusion. CONCLUSION: The EXIT procedure allows for controlled resection of large fetal lung lesions at delivery, avoiding acute respiratory decompensation related to mediastinal shift, air trapping, and compression of normal lung.

Adolescent↗
PubMed2005

Comparison of pregnancy course and outcome with color and radiographic angiography of the placenta in a monochorionic triplet pregnancy.

A patient with spontaneous monochorionic (MC) triamniotic triplet pregnancy developed symptoms of feto-fetal-transfusion-syndrome (FFTS) at 18 weeks of gestation with one donor (oligohydramnios) and one receptor (polyhydramnios) triplet. The patient "received" a diet enriched with proteins. Amniotic-fluid volume returned to normal after 24 weeks. At 32 weeks, a Cesarean section was performed due to intra-uterine growth restriction of the donor triplet. Post partum color injection and computer angiograms showed arterio-arterial (AA) anastomoses between all triplets. Deep arterio-venous (AV) anastomoses between the two triplets who had demonstrated with oligo- and polyhydramnios between 18 and 26 weeks were revealed by computer angiography that were not seen by placental color angiogram. Detailed analysis of placental vascular communications by use of color injection angiogram of the chorionic plate and computer angiogram demonstrating deep anastomoses beneath the chorionic plate helps to understand the individual pathophysiology and clinical course in patients with FFTS, which is even more complex in MC triplet compared to MC twin pregnancies.

Adult↗
PubMed1996

Congenital diaphragmatic hernia: can prenatal ultrasonography predict outcome?

OBJECTIVE: We wanted to establish whether prenatal ultrasonography predicts postnatal outcome in congenital diaphragmatic hernia. STUDY DESIGN: We designed a retrospective multicenter cohort study of 135 patients with congenital diaphragmatic hernia (122 left, 10 right, 2 bilateral, 1 anterior). In isolated left congenital diaphragmatic hernia five potential prenatal prognostic factors were studied: diagnosis at < or = 25 weeks' gestation, polyhydramnios, intrathoracic stomach, small abdomen, and major mediastinal shift. RESULTS: None of the 44 fetuses or infants who had multiple malformations survived. Of the 91 cases of isolated congenital diaphragmatic hernia, there were 82 live births; 76 of these infants had a left congenital diaphragmatic hernia. Of these, 51 (67%) died postnatally. A statistically significant relation was found between mortality and polyhydramnios, intrathoracic stomach, and major mediastinal shift. Mortality increased as a function of the number of these prognostic factors from 20% when none was present to 94% when all three were present. CONCLUSION: In the majority of cases of isolated left congenital diaphragmatic hernia the prognostic value of fetal ultrasonography is too low to alter perinatal management.

Cohort Studies↗
PubMed2002

Sonographic features of trisomy 13 at midpregnancy.

OBJECTIVES: To evaluate the sonographic characteristics, at 16-22 weeks of gestation, of fetuses later diagnosed with trisomy 13. METHODS: This descriptive analysis of a case series was conducted from June 1989 to May 2001 at the Department of Obstetrics and Gynecology, Faculty of Medicine, Chiang Mai University, Thailand. Women with abnormal sonographic findings at midpregnancy (16-22 weeks of gestation) underwent amniocentesis or cordocentesis for karyotyping, and the inclusion criterion was proven trisomy 13. RESULTS: Indications for sonographic examination at midpregnancy were a genetic risk, large- or small-for-date fetus, and other suspected anomalies. Fifteen fetuses were later diagnosed with trisomy 13. In all of these cases there was at least one abnormal sonographic finding. In only one case did the fetus show no structural abnormality (at 17 weeks), but polyhydramnios and fetal growth restriction were observed. Common sonographic findings included holoprosencephaly with associated facial anomalies, and abnormal feet and/or hands, especially polydactyly. Non-structural abnormal findings such as polyhydramnios or fetal growth restriction were seen in less than one third of the fetuses. CONCLUSIONS: Nearly all the fetuses with trisomy 13 had sonographic characteristics of abnormalities at midpregnancy although common findings had often not yet appeared or the findings were low-sensitive. Detailed ultrasound at midpregnancy could effectively screen for further genetic testing pregnancies at risk for trisomy 13.

Abnormalities, Multiple↗
PubMed1990

Cervical cystic hygroma in the fetus: clinical spectrum and outcome.

Cervical cystic hygroma is thought by most pediatric surgeons to be an isolated, usually resectable lesion with an excellent prognosis. However, prenatal sonography has revealed a high "hidden mortality" among fetuses with this condition, and most perinatologists consider it to be uniformly fatal. In an attempt to resolve these two differing perspectives, we analyzed 29 cases seen at two centers over 4 years. Of 27 fetuses diagnosed before 30 weeks' gestation, only one survived. Twenty-five of the 27 were aborted; severe hydrops was present in 21 of these 25. Two of the 27, both with stigmata of Noonan's syndrome, underwent spontaneous regression during the second trimester: one died at 2 weeks of age, and the other survived. Successful karyotypes were obtained on 17 fetuses: nine were normal, seven were 45X, and one was trisomy 21. Fetuses with abnormal karyotypes had a lower incidence of polyhydramnios (0% v 67%), additional anomalies (12% v 67%), and consanguinity or a history of abnormal pregnancies (0% v 89%). Two fetuses were diagnosed after 30 weeks' gestation. Neither had hydrops, polyhydramnios, associated anomalies, or an abnormal karyotype. One had a completely normal sonogram at 17 weeks' gestation. Both were operated on within the first 4 days of life; one did well without complications, and the other required a permanent tracheostomy because of extensive hypopharyngeal involvement. A cystic hygroma presenting in the fetus has a different natural history and prognosis from one presenting postnatally. The vast majority of fetal cases are diagnosed before 30 weeks' gestation, and present with hydrops or diffuse lymphangiomatosis. The dismal outlook in this group justifies elective termination in most cases.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗
PubMed1985

Diaphragmatic hernia in the fetus: prenatal diagnosis and outcome in 94 cases.

Most babies born with congenital diaphragmatic hernia (CDH) die after birth. The natural course of CDH in the human fetus is not known. We found 94 cases of fetal CDH in the records of surgeons and obstetricians surveyed in the United States and Canada. We found the following: (1) prenatal diagnosis of CDH is accurate and current techniques can detect lethal nonpulmonary anomalies and prevent diagnostic errors; (2) despite optimal conventional therapy, most fetuses with detectable CDH will die in the neonatal period (80% mortality); (3) polyhydramnios is both a common prenatal marker for CDH (present in 76% of fetuses) and a predictor for poor clinical outcome (only 11% survived); (4) fetal CDH is a dynamic process--nonsurvivors have larger defects and may have more viscera displaced into the chest at an earlier stage of development. Surgical intervention before birth may be necessary to improve survival of the fetus with CDH and polyhydramnios.

Congenital Abnormalities↗
PubMed1998

The association of complete laryngotracheoesophageal cleft with left lung agenesis: pathophysiological clues provided by an experiment of nature.

The authors present a patient with complete laryngotracheoesophageal cleft and concurrent left lung agenesis and microgastria. Prenatal ultrasound scan showed polyhydramnios and a hypertrophic right lung. The authors propose that the combination of right lung hypertrophy, polyhydramnios, and microgastria in the absence of a competent laryngeal mechanism may suggest that the preferential path for swallowed amniotic fluid was into the lung, rather than the normal route through the stomach. This case illustrates the prenatal findings suggestive of complete laryngotracheoesophageal cleft and lung agenesis, and suggests a potential causal relationship between shunting of swallowed amniotic fluid into the bronchial tree and prenatal lung hypertrophy and microgastria.

Abnormalities, Multiple↗
PubMed1998

The natural history of sacrococcygeal teratomas diagnosed through routine obstetric sonogram: a single institution experience.

BACKGROUND/PURPOSE: The antenatal diagnosis of sacrococcygeal teratoma (SCT) is increasingly being made with fetal sonography. However, the natural history of SCT detected on routine obstetric sonogram is not well defined. METHODS: A retrospective chart review of 21 fetal SCT diagnosed on routine sonography at Hospital Sainte-Justine between 1980 and 1997 were performed. The patients' clinical and sonographic characteristics, prenatal, and perinatal outcomes were examined. Prognostic criteria were identified by correlating patients' characteristics with outcome. RESULTS: In utero mortality rate was 19% and perinatal mortality rate was 14%. The incidence of premature labor was 50%. Of the various criteria examined as an independent variable, the presence of a solid tumor was found to be a important negative prognostic factor with a 67% incidence of death in utero and an overall mortality rate of 100%. Patients with new onset polyhydramnios were at significant risks for premature labor (100%). All of the perinatal deaths were attributable to tumor rupture. CONCLUSIONS: The course of sacrococcygeal teratoma diagnosed on routine sonograms is associated with a higher-than-expected incidence of prenatal and perinatal complications. Close antenatal follow-up for new onset polyhydramnios and the presence of a completely solid tumor will help optimize patient counseling and treatment.

Female↗
PubMed2003

Perinatal outcome after prenatal diagnosis of placental chorioangioma.

OBJECTIVE: To review the prenatal complications, management, and perinatal outcome in pregnancies complicated by placental chorioangioma. METHODS: Cases of placental chorioangioma diagnosed prenatally as part of a prospective, multicentric program for fetal diagnosis and therapy were identified. All cases were evaluated with color flow imaging. In the latter part of the study, three-dimensional power Doppler angiography was also used to study the vascular pattern of the tumor. Information on maternal demographics, prenatal sonographic findings, pregnancy complications, antenatal intervention, and perinatal outcome was obtained by reviewing the medical records or contacting the referring obstetricians. RESULTS: In the 5-year period from January 1997 to December 2001, 11 cases of placental chorioangioma were diagnosed prenatally. Nine cases were diagnosed in singleton and two in twin pregnancies. Among the nine cases occurring in singletons, five (56%) were associated with pregnancy complications, including polyhydramnios (n = 3), oligohydramnios (n = 2), fetal growth restriction (n = 2), and nonimmune hydrops (n = 1). Amniodrainage was required in one of these cases, allowing prolongation of pregnancy until term. Four (44%) singletons delivered before 35 weeks. Overall, two fetuses died, including one twin due to complications of twin-twin transfusion syndrome and another with hydrops after alcohol injection into the chorioangioma. In four pregnancies, no prenatal complications were detected in spite of continuous growth and vascularity of the placental mass in three of them. CONCLUSION: Placental chorioangioma is associated with an increased risk of pregnancy complications, the most common being polyhydramnios and preterm delivery. In selected cases, amniodrainage allows continuation of the pregnancy with improving perinatal outcome. Fetuses who develop hydrops are at the highest risk for perinatal death, with limited therapeutic options being available. Close follow-up is advised, even in those cases with no associated findings at the time of the diagnosis.

Adult↗
PubMed1999

Neonatal Hirschsprung disease, dysautonomia, and central hypoventilation.

BACKGROUND: A reported association between congenital central hypoventilation, long-segment intestinal aganglionosis (Hirschsprung disease), and autonomic dysfunction, with a high recurrence risk and mortality rate, is associated with abnormal neural crest development (neurocristopathy). CASE: A fetus had increasing polyhydramnios, no stomach bubble, and repeatedly nonreactive fetal heart rate tracings despite normal activity. There were no other fetal anomalies on ultrasound. Postnatally all of the above clinical features were diagnosed, prompting diagnosis of neurocristopathy syndrome. She died at 2 weeks of age. CONCLUSION: Antenatal polyhydramnios, nonreactive nonstress tests, and absent stomach bubble in an active fetus indicated neurocristopathy.

Adult↗