ABSTRACT
Diagnostic quality images of the fetal heart in utero can be obtained as early as 18 to 20 weeks of gestation. The cardiac structures can be imaged primarily by cross-sectional echocardiography and augmented by a combination of simultaneous M-mode echocardiography and range-gated pulsed Doppler ultrasonography. Cross-sectional images from planes through the fetal heart equivalent to planes that can be obtained after birth can be generated in utero. In a study of 168 pregnancies, 10 structural cardiac abnormalities have been defined. These abnormalities and others that have been reported indicate the potential for in utero cardiac diagnosis. The recognition of structural congenital heart disease in utero has been helpful in genetic counseling, planning the method of labor and delivery and making decisions regarding termination of pregnancy and planning postnatal care. Fetal echocardiography offers the potential to change the pattern of health care delivery to those with suspected congenital heart disease.
Subject(s)
Echocardiography , Heart Defects, Congenital/diagnosis , Heart/embryology , Echocardiography/methods , Female , Gestational Age , Heart Defects, Congenital/complications , Heart Septal Defects/diagnosis , Humans , Polyhydramnios/complications , Pregnancy , Prenatal Diagnosis/methods , UltrasonographyABSTRACT
OBJECTIVE: To compare pregnancy outcome in twin pregnancies with and without hydramnios. STUDY DESIGN: A database of women receiving outpatient preterm labor surveillance services was studied for the period 1988 to 2002. Included were women with twin gestations under 30 weeks' gestation at start of outpatient services. We compared pregnancy outcomes for twin gestations with hydramnios (n=201) to twin gestations that had normal amniotic fluid volume (n=13,111). RESULTS: Obstetrical and perinatal outcomes in twin pregnancies were adversely affected by the presence of hydramnios. Delivery was shifted to earlier gestations in women with hydramnios (32.8 vs 35.1 weeks, p<0.001), especially under 32 weeks (38.3 vs 12.7%). Perinatal loss was notable in women with hydramnios: stillbirths (12.7 vs 1.1%, p<0.001) and neonatal mortality (7.5 vs 1.1%, p<0.001). CONCLUSIONS: Hydramnios in twin gestations negatively impacts gestational age at delivery. The incidence of perinatal mortality is significantly increased in the presence of hydramnios.
Subject(s)
Polyhydramnios/complications , Pregnancy Outcome , Pregnancy, Multiple , Case-Control Studies , Female , Gestational Age , Humans , Infant Mortality , Infant, Newborn , Intensive Care, Neonatal , Polyhydramnios/mortality , Pregnancy , Premature Birth/etiology , Twins , Uterine MonitoringABSTRACT
OBJECTIVE: We evaluated the outcome of fetuses diagnosed with having congenital cystic adenomatoid malformation (CCAM) on ultrasonographic examination and managed conservatively. METHODS: A retrospective study of 19 cases of CCAM diagnosed antenatally in our hospital was conducted between 1990 and 2001. Complete clinical information was available for all patients, with a mean follow-up of 62 months. RESULTS: The median gestational age at which CCAM was diagnosed was 23 weeks and there were eight live births. With conservative postnatal management, seven neonates had no major complications and one developed bronchopneumonia. CONCLUSION: Taken together, the findings of the present study and a review of the literature strongly support the conservative management of selected neonates with CCAM.
Subject(s)
Cystic Adenomatoid Malformation of Lung, Congenital/diagnosis , Pregnancy Outcome , Abortion, Induced , Bronchopneumonia/etiology , Cystic Adenomatoid Malformation of Lung, Congenital/complications , Female , Follow-Up Studies , Gestational Age , Humans , Hydrops Fetalis/complications , Infant , Male , Mediastinal Diseases/complications , Polyhydramnios/complications , Pregnancy , Prenatal Diagnosis , Retrospective StudiesABSTRACT
Newborn screening programs for the detection of congenital hypothyroidism have dramatically shortened the time before treatment is begun. However, concern still exists about central nervous system sequelae which may persist due to a period of untreated intrauterine hypothyroidism. Presence of polyhydramnios led to the ultrasound diagnosis of a fetal goiter. Hypothyroidism was confirmed at 34 weeks gestation by percutaneous fetal blood sampling, which revealed an elevated TSH (186 mU/L) and a low T4 (19.3 nmol/L). Intraamniotic fluid injections of 500 micrograms levothyroxine sodium (T4) every 10-14 days increased fetal serum T4 (59.2 nmol/L), decreased fetal serum TSH (14 mU/L), decreased amniotic fluid TSH, and decreased the size of the fetal goiter. The infant was born at term without perinatal complications. Thyroid function studies on cord blood were normal (T4, 109.4 nmol/L; TSH, 1.3 mU/L), and the infant was discharged on oral T4. Follow-up examination at age 6 weeks revealed that the infant was developmentally normal and clinically and chemically euthyroid. Intrauterine T4 therapy can suppress fetal TSH and treat fetal hypothyroidism despite hypothyroid levels of serum T3. Highly sensitive TSH assays may allow the use of amniotic fluid TSH as a marker for fetal hypothyroidism.
Subject(s)
Fetal Diseases/diagnosis , Goiter, Nodular/diagnosis , Hypothyroidism/diagnosis , Polyhydramnios/complications , Prenatal Diagnosis , Thyrotropin/analysis , Ultrasonography , Adult , Amniotic Fluid/analysis , Female , Fetal Blood/analysis , Goiter, Nodular/complications , Goiter, Nodular/drug therapy , Humans , Hypothyroidism/complications , Hypothyroidism/drug therapy , Pregnancy , Thyroid Function Tests , Thyrotropin/blood , Thyroxine/therapeutic useABSTRACT
We report on a patient with de novo interstitial deletion of the long arm of chromosome 12: 46,XY,del(12)(q24.31q24.33). To our knowledge this is the first patient with this chromosomal abnormality reported. He was born with minor anomalies, ambiguous genitalia, tracheomalacia, and he was developmentally delayed at age 9 months. The phenotype associated with this deletion may be characteristic. However, because of the absence of reported cases of other patients with loss of this chromosomal region, we cannot delineate the specific phenotype further. Ambiguous genitalia or hypogonadism has been reported in other patients with chromosomal rearrangements involving 12q24.
Subject(s)
Chromosome Deletion , Chromosomes, Human, Pair 12 , Chromosome Banding , Female , Humans , In Situ Hybridization, Fluorescence , Infant , Male , Polyhydramnios/complications , PregnancyABSTRACT
Here we report on an apparently unprecedented case of virtually complete absence of the left half of the body, with resulting severe deformity of the right half. The fetus was stillborn with polyhydramnios at 31 1/2 weeks of gestational age. A second patient may be a mild example of this extraordinary phenomenon with deficiency of organs, predominantly on the left side. The nosology and developmental implications are discussed briefly.
Subject(s)
Abnormalities, Severe Teratoid/pathology , Fetus/abnormalities , Female , Fetal Death/pathology , Humans , Infant, Newborn , Polyhydramnios/complications , Pregnancy , Ultrasonography, PrenatalABSTRACT
Autopsies of 12 consecutively born infants with anencephaly showed varying degrees of aganglionosis and lateralization defects in four of them. This seemingly regular occurrence of these three defects together suggests that they are caused by an aberration of blastogenesis that results in a polytopic field defect.
Subject(s)
Anencephaly/complications , Hirschsprung Disease/complications , Female , Humans , Neural Tube Defects/complications , Polyhydramnios/complications , Pregnancy , Submucous Plexus/abnormalitiesABSTRACT
We report two sporadic cases with a previously undescribed skeletal dysplasia lethal in the neonatal period. The syndrome is characterized clinically by striking rhizomelic shortness of the limbs and radiographically by absence or hypoplasia of the humeri, hypoplastic vertebrae, absent fibulae and ossification in only the distal phalanges of the hands. Morphologic studies show hypocellular areas of growth plate cartilage containing occasional multinucleated giant cells.
Subject(s)
Abnormalities, Multiple/pathology , Femur/abnormalities , Humerus/abnormalities , Osteochondrodysplasias/pathology , Spine/abnormalities , Cartilage/pathology , Female , Humans , Infant, Newborn , Infant, Premature , Polyhydramnios/complications , Pregnancy , SyndromeABSTRACT
We report on nine individuals with the Pena-Shokeir syndrome. Clinical findings are compared with data on patients from the literature. Emphasis is made on genetic background, neuropathological findings, and (in two cases) on prenatal data. Possible pathogenetic mechanisms are discussed.
Subject(s)
Abnormalities, Multiple/pathology , Disease , Syndrome , Abnormalities, Multiple/embryology , Abnormalities, Multiple/genetics , Arthrogryposis/pathology , Face/abnormalities , Female , Fetal Movement , Fingers/abnormalities , Heart Defects, Congenital/pathology , Humans , Inbreeding , Infant, Newborn , Male , Nervous System Diseases/embryology , Neuromuscular Diseases/embryology , Polyhydramnios/complications , PregnancyABSTRACT
In a fetus with supraventricular tachycardia (SVT) and cardiac failure, normal sinus rhythm (NSR) was restored with maternal digoxin therapy at 26 weeks' gestation. The diagnosis of cardiac failure was based on ultrasound evidence of ascites and scalp edema. Cardiac failure was attributed to the persistent SVT. The infant remained in NSR and was delivered at 36 weeks' gestation because of persistent ascites. Intracardiac anatomy was normal. This case confirms the usefulness of prenatal ultrasound examinations in the diagnosis of fetal SVT and cardiac failure and illustrates the effectiveness and safety of transplacental digoxin therapy in the management of fetal SVT.
Subject(s)
Digoxin/administration & dosage , Maternal-Fetal Exchange , Tachycardia/drug therapy , Adult , Ascites/complications , Cesarean Section , Edema/complications , Female , Fetal Diseases , Fetal Heart , Humans , Infant, Newborn , Male , Polyhydramnios/complications , Pregnancy , Tachycardia/complicationsABSTRACT
Ten cases of congenital cystic adenomatoid malformation of the lung are presented, together with a review of the literature. Two infants were stillborn; the others died shortly after birth. Eight had hydrops, and in eight the pregnancy was complicated by hydramnios. Grossly, one or two lobes of the lung were affected, the remaining lobe(s) and the opposite lung being hypoplastic. The lesions were solid, or cystic. Apart from a solitary cutaneous hamartoma, there was no associated anomaly. Microscopically, two patterns were seen--solid and mixed. "Mucigenic epithelium" was seen in six cases. The pathogenesis of this lesion, together with that of the hydrops and hydramnios, is discussed. It is concluded that congenital cystic adenomatoid malformation of the lung is a distinct pathological entity; its prompt recognition and surgical correction should result in normal survival.
Subject(s)
Lung/abnormalities , Edema/complications , Female , Humans , Infant, Newborn , Lung/pathology , Male , Polyhydramnios/complications , PregnancyABSTRACT
A case of adenomatoid hamartoma in a premature male infant is described and the recent literature is reviewed. The present case demonstrates the frequently associated features of maternal hydramnios of late onset, and premature delivery with foetal respiratory difficulty and anasarca.
Subject(s)
Hamartoma , Infant, Premature, Diseases , Lung Neoplasms , Edema/complications , Female , Fetal Diseases/complications , Humans , Infant, Newborn , Male , Polyhydramnios/complications , Pregnancy , Pregnancy Complications , RespirationABSTRACT
The relation between clinically obvious polyhydramnios and poor perinatal outcome has been described. Much less is known about mild, unexplained polyhydramnios, which usually is initially suggested by sonographic examination late in gestation. The purpose of the present investigation was to relate mild idiopathic polyhydramnios to perinatal outcome. Mild polyhydramnios was defined sonographically as an amniotic fluid index of 24.1-39.9 during fetal biophysical testing. All subjects had singleton gestations not complicated by conditions known to predispose to polyhydramnios. We diagnosed mild polyhydramnios in 97 of 1177 patients (8.2%) undergoing fetal testing at 26-42 gestational weeks. Premature delivery, intrapartum complications, and neonatal depression were no more frequent in the pregnancies complicated by mild, unexplained polyhydramnios than in a comparable control group with normal fluid volume. The mild polyhydramnios group showed a significantly higher incidence of birth weight greater than 4000 g than did the control group (18.6 versus 8.6%; P less than .05). We conclude that mild idiopathic polyhydramnios in late gestation is relatively common. Except for a higher incidence of large for gestational age fetuses, this condition by itself is not associated with an increased risk of adverse perinatal outcomes.
Subject(s)
Polyhydramnios/complications , Pregnancy Outcome , Female , Humans , Polyhydramnios/diagnosis , Pregnancy , Ultrasonography, PrenatalABSTRACT
Little has been written regarding the ultrasonographic quantification of polyhydramnios or its subsequent management. Therefore, we designed this study to define polyhydramnios using the amniotic fluid index of greater than 2 SDs above the mean for late second- to third-trimester pregnancies, or 24 cm or greater. One hundred twelve nondiabetic women referred to Women's Hospital, Los Angeles County/University of Southern California Medical Center with the descriptive diagnosis of polyhydramnios made by experienced ultrasonographers were included in the study. There was poor correlation between these descriptions and fetal outcome. Twenty-six were qualitatively described as having severe, 29 as moderate, and 57 as mild polyhydramnios. Forty-nine of the 112 patients met our definition of significant polyhydramnios by having an amniotic fluid index of 24 cm or more. This particular definition allowed the inclusion of all fetuses with serious structural defects and/or death. Seven patients had an amniotic fluid index less than 24 cm, but with the traditional quantitative definition of one pocket of 8 cm or more; none of these patients had poor fetal outcome. These data appear to suggest that the use of descriptive definitions of polyhydramnios or a single fluid pocket of 8 cm or greater should be discarded in favor of using an amniotic fluid index of 24 cm or more. Once the diagnosis of polyhydramnios is made, the patient should have a detailed sonographic evaluation, be offered cytogenetic studies, and have antepartum surveillance.
Subject(s)
Polyhydramnios/diagnosis , Congenital Abnormalities , Female , Fetal Death/complications , Fetal Diseases , Humans , Infant, Newborn , Polyhydramnios/complications , Polyhydramnios/therapy , PregnancyABSTRACT
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.
Subject(s)
Edema/etiology , Infant, Newborn, Diseases/etiology , Polyhydramnios/complications , Pre-Eclampsia/complications , Female , Humans , Infant, Newborn , Male , Pregnancy , RecurrenceABSTRACT
OBJECTIVE: To determine whether an association exists between the severity of polyhydramnios and the frequency of preterm delivery. METHODS: The study group consisted of 275 singleton pregnancies with polyhydramnios as defined by an amniotic fluid index (AFI) of at least 25 cm. Polyhydramnios was arbitrarily categorized into three groups by severity: mild (AFI 25-30 cm), moderate (AFI 30.1-35 cm), and severe (AFI greater than 35.1 cm). A delivery was considered preterm if it occurred before 37 weeks' gestation. RESULTS: Fifty-two of 275 (18.9%) women delivered before 37 weeks' gestation. Preterm delivery occurred in 37 of 199 (18.5%) cases with mild polyhydramnios, 12 of 55 (21.8%) with moderate polyhydramnios, and three of 21 (14.3%) with severe polyhydramnios (no statistically significant difference). Fetuses with congenital malformations (16 of 41, 39%) and those of diabetic mothers (ten of 45, 22.2%) had a significantly higher incidence of preterm delivery than did cases with unexplained polyhydramnios (24 of 190, 12.6%; P < .001). The prematurity rate in cases with idiopathic polyhydramnios was no higher than the overall rate for our hospital. CONCLUSION: The underlying cause of polyhydramnios, rather than the relative excess of amniotic fluid as defined by this study, appears to determine when preterm labor will occur.
Subject(s)
Obstetric Labor, Premature/etiology , Polyhydramnios/complications , Adolescent , Adult , Diabetes Mellitus/etiology , Female , Humans , Incidence , Polyhydramnios/diagnosis , Polyhydramnios/etiology , Pregnancy , Pregnancy Complications , Prevalence , Retrospective Studies , Risk Factors , Severity of Illness IndexABSTRACT
This prospective investigation was designed to assess the incidence of chromosomal abnormalities in patients with idiopathic polyhydramnios. Polyhydramnios was defined as 25 cm or greater in total vertical height in all four quadrants (amniotic fluid index) in any nonreferral patient (ie, primary care population) undergoing sonographic examination with a singleton pregnancy, normal fetal anatomical survey, normal glucose screening, and negative antibody screen. During the 2-year period from May 1, 1988 through April 30, 1990, 5038 gravidas delivered at Madigan Army Hospital Center. Unexplained polyhydramnios was detected sonographically in 125 patients, an incidence of 2.5%. After obtaining informed written consent, amniocentesis was performed in all patients. Within this group (N = 125), four chromosomal abnormalities (incidence of 3.2%) were detected. There were two trisomy 18 and two trisomy 21 fetuses. None of the four patients had maternal serum alpha-fetoprotein screening performed. The incidence of aneuploidy in patients with idiopathic polyhydramnios (3.2%) is much higher than the reported incidence of major karyotype abnormalities in live births (0.59%). We conclude that fetal chromosomal analysis should be considered in all obstetric patients with sonographic evidence of idiopathic polyhydramnios.
Subject(s)
Chromosome Aberrations/epidemiology , Polyhydramnios/complications , Chromosome Aberrations/etiology , Chromosome Disorders , Female , Humans , Incidence , Karyotyping , Pregnancy , Prospective Studies , RiskABSTRACT
The case of a woman with recurrent hydramnios in three pregnancies, from which the only surviving infant was later found to have Bartter's syndrome, is described. Analysis of electrolytes, renin activity, and aldosterone levels in amniotic fluid from this pregnancy are presented. The finding of maternal hydramnios in the present and 12 other reported cases of Bartter's syndrome suggests that increased fetal voiding is the most likely causative factor in the development of increased amniotic fluid volume. Early onset hydramnios might signify Bartter's syndrome in the offspring in families with an index case. In cases of hydramnios of unknown etiology, appropriate investigations might lead to early diagnosis and treatment of Bartter's syndrome.
Subject(s)
Bartter Syndrome/complications , Fetal Diseases/complications , Hyperaldosteronism/complications , Polyhydramnios/complications , Polyuria/complications , Adult , Bartter Syndrome/congenital , Bartter Syndrome/diagnosis , Female , Humans , Infant, Newborn , Pregnancy , RecurrenceABSTRACT
Obstetric problems associated with 60 anencephalic births are analyzed according to cause and severity. Treatment is selected problems is discussed. Early diagnosis and the real problem-prevention-is stressed.
Subject(s)
Anencephaly , Anencephaly/complications , Anencephaly/diagnosis , Delivery, Obstetric , Female , Humans , Infant, Newborn , Labor Presentation , Male , Obstetric Labor Complications , Polyhydramnios/complications , Pregnancy , Prenatal Diagnosis , Sex FactorsABSTRACT
Six cases of chorioangioma of the placenta and a review of relevant leterature are presented. The incidence of chorioangiomas is higher than generally realized because many small chorioangiomas are missed in routine examination of placentas. A case of chorioangioma with foci resembling hemangiopericytoma is presented. Cases of large chorioangiomas seem to occur when the placenta is large. Hydramnios is commonly found with large chiorangiomas, and both of these conditions may be conducive to premature births. There is an increased incidence of toxemia in pregnant patients with chorioangiomas, and the condition is unrelated to the size of the tumor. Diligent examination of infants associated with chorioangioma of the placenta is suggested, as these infants may have unsuspected congenital anomalies.