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PubMedDate not supplied

Prenatal sonographic diagnosis of Neu-Laxova syndrome.

We report the sonographic diagnosis of Neu-Laxova syndrome in a fetus at 27 weeks' menstrual age. The parents were first cousins. Sonography revealed microcephaly, a sloping forehead, exophthalmos, a small thorax and abdomen, hypoplastic lungs, syndactyly, hyperextended knees, polyhydramnios, a small placenta, and intrauterine growth restriction. The long bones were normal. The calvaria was hyperechoic and associated with shadowing, obscuring any intracranial abnormalities. This sonographic finding was presumed to represent calvarial calcification, not previously described with this syndrome. We believe that Neu-Laxova syndrome can be reliably diagnosed prenatally by demonstrating the sonographic features described, although other conditions with similar sonographic features need to be considered in the differential diagnosis.

Abnormalities, Multiple↗
PubMed2002

Prenatal sonographic diagnosis of diastrophic dwarfism.

A healthy 27-year-old pregnant woman underwent sonographic examination because her uterine size was large for 20 weeks' menstrual age. Sonograms showed short fetal limbs with hitchhiker thumbs and toes, thoracic scoliosis, clubbed feet, and polyhydramnios. The ossification of all bony structures appeared normal, and there was no evidence of fractures. On the basis of these sonographic findings, we diagnosed skeletal dysplasia and short-limbed dwarfism, most likely diastrophic dwarfism. We counseled the parents, and the pregnancy was continued. At 37 weeks menstrual age, the patient vaginally delivered a male infant that weighed 2,560 g. The infant survived with respiratory support during his first few days of life. Postnatal physical and radiologic examinations confirmed the prenatal diagnosis of diastrophic dwarfism. Sonography is the modality of choice for prenatal detection of diastrophic dwarfism.

Abnormalities, Multiple↗
PubMed2003

Isolated cardiomegaly in the second trimester as an early sign of fetal hydrops due to intracranial arteriovenous malformation.

We report the case of a 27-year-old pregnant woman in whom isolated mild fetal cardiomegaly, diagnosed prenatally on sonographic examination at 22 weeks' menstrual age, was the first sign of development of an arteriovenous malformation of the vein of Galen. The arteriovenous malformation was visualized on sonographic examination at 29 weeks' menstrual age; prenatal MRI at 32 weeks confirmed the diagnosis. At 34 weeks' menstrual age, repeat sonographic examination demonstrated polyhydramnios, cardiomegaly, and generalized hydrops with ascites and pleural effusion. After vaginal delivery, the male neonate died of respiratory distress. We present the findings of prenatal gray-scale, color Doppler, and power Doppler sonography; MRI; and postmortem examination.

Cardiomegaly↗
PubMed1978

Sonographic findings in gastroschisis.

The antenatal sonographic appearance of gastroschisis is described. The findings consist of numerous extra-abdominal "cystic masses" respresenting loops of fluid-filled bowel eviscerated through the abdominal defect. This patient also had associated polyhydramnios, possibly on the basis of a functional bowel abnormality.

Abdominal Muscles↗
PubMed1983

Antenatal ultrasound detection of cystic adenomatoid malformation of lung: report of a case and review of the recent literature.

We have described a case of cystic adenomatoid malformation of the lung, detected before birth. The ultrasound findings demonstrated in this case correlated well with both the radiographic appearance of the lesion and with the gross pathology. Though we do not feel that the ultrasonic findings described are specific for this entity, they are believed to be characteristic of at least one type of cystic adenomatoid malformation. The prognostic significance of associated polyhydramnios and fetal anasarca is discussed. The importance of detecting this lesion antenatally is highlighted in this case in which the malformation would most likely have gone undetected in the perinatal period were it not for the antenatal ultrasonic findings.

Adult↗
PubMed2005

Prenatal sonographic diagnosis of tetralogy of fallot.

The objective of this report was to emphasize the sonographic findings of tetralogy of Fallot (TOF) during the prenatal period. Four fetuses with TOF were prenatally diagnosed at gestational ages of 25, 28, 25, and 32 weeks. Based on this small series, prenatal sonographic findings suggestive of TOF may be summarized as follows: (1) a large aortic root, which is the most common prenatal sonographic finding, (2) a small pulmonary artery or stenosis of the right ventricular outflow tract, (3) a ventricular septal defect in the outlet portion of the septum, (4) an overriding aorta, which is best seen in the long-axis view, and (5) right ventricular hypertrophy. Other findings such as hydrops fetalis or polyhydramnios may also be helpful especially in the case of dysplastic pulmonary valves. The demonstration of a normal aortic root would render the presence of TOF unlikely. TOF with pulmonary atresia can be confused with truncus arteriosus, in which both pulmonary arteries arise from the ascending aorta. How-ever, with careful examination along the course of the ascending aorta, there are no branches arising from the aorta in TOF.

Adult↗
PubMed1982

Teratoma of thyroid gland in infancy: review of the literature and two case reports.

Teratomas of the cervical area are relatively rare tumors--only 132 cases have been reported. This paper adds two more cases to the literature and reviews the important clinical aspects of the disease. This tumor commonly presents in early infancy with increasing respiratory distress; polyhydramnios is commonly associated with tumors greater than 10 cm in diameter. They are always benign in infants and are believed to arise from the thyroid gland. Prompt surgical removal is mandatory. Thyroid function studies should be initiated preoperatively, if feasible, and definitely postoperatively to avoid the possible complication of hypothyroidism in the young infant.

Humans↗
PubMed2004

Prenatal sonographic features of esophageal and ileal duplications at 18 weeks of gestation.

We present a case of esophageal and ileal duplications at 18 weeks of gestation. Transabdominal ultrasonography of the fetus showed multiple cystic masses of 12 to 17 mm in diameter and continuity with each other in the abdomen and a unilocular cystic mass of 15 mm in diameter in the posterior mediastinum. The cystic mass filled the abdominal cavity with signs of intestinal obstruction. The thoracic cystic mass was tubular, sausage-shaped and behind the heart, which was displaced to the antero-lateral wall of the chest. Amniocentesis revealed a normal fetal karyotype 46,XY. Peristaltic movements in the abdominal cystic structure at 30 weeks of gestation suggested dilated intestinal loops. Follow-up ultrasound examinations showed polyhydramnios with amniotic fluid index of 30 cm and gradual enlargement of the cystic structures to 50 mm in the abdomen and 30 mm in the posterior mediastinum at 38 weeks of gestation. A male infant weighing 3900 g was delivered. Postnatal ultrasonographic examination and the findings of magnetic resonance imaging also suggested enteric duplication cysts. Prenatal diagnosis allowed prompt neonatal evaluation and surgical treatment of the esophageal and the ileal duplications, which was confirmed by pathological examination.

Adult↗
PubMed2005

Prenatal diagnosis of Beckwith-Wiedemann syndrome.

OBJECTIVES: The diagnosis of Beckwith-Wiedemann syndrome (BWS) typically is made after birth. To our knowledge, no established guidelines exist for the prenatal diagnosis of this condition. We present two new cases of prenatally diagnosed BWS and propose a diagnostic schema. METHODS: Published reports obtained from Medline searches were reviewed and combined with our cases. RESULTS: Our proposed schema of two major criteria (abdominal wall defect, macroglossia, macrosomia) or one major plus two minor criteria (nephromegaly/dysgenesis, adrenal cytomegaly, aneuploidy/abnormal loci, polyhydramnios) fits all published reports of prenatally diagnosed BWS. CONCLUSION: The prenatal diagnosis of BWS can be reliably made by applying our proposed guidelines. This schema allows for uniform fetal diagnosis of the syndrome and helps prepare for prenatal counseling and peri- and post-natal management strategies.

Adrenal Cortex↗
PubMed2005

TORCH test for fetal medicine indications: only CMV is necessary in the United Kingdom.

OBJECTIVES: To review the indications and value of TORCH testing (toxoplasma, rubella, cytomegalovirus, herpes) for fetal medicine reasons. METHODS: Analysis of all maternal and fetal TORCH tests requested from a busy Fetal Medicine Unit during nearly a 10-year period. The main ultrasound findings considered as possibly caused by congenital fetal infections were analysed. Pregnancy outcomes for cases with confirmed maternal or fetal infections were studied. RESULTS: Four hundred and sixty-two maternal TORCH tests were performed. Of those, TORCH tests were also performed on fetal samples (amniotic fluid or fetal blood) in 67 cases. Fourteen fetal tests without maternal testing were identified, making the total number of patients tested 476. There were 11 cases of maternal CMV infection (2.3%), 10 cases of fetal CMV infection, and none of the other viruses. Indications for testing included fetal hyperechogenic bowel, hydrops, cerebral ventriculomegaly, echogenic foci, oligohydramnios, polyhydramnios, and IUGR. The most common findings to be actually associated with fetal infections were hyperechogenic bowel, ascites, cardiomegaly, and oligohydramnios. No cases were associated with polyhydramnious, while both IUGR and ventriculomegaly were always associated with other more relevant features. CONCLUSION: In the United Kingdom, complete maternal TORCH testing because of fetal findings on detailed scans is often not necessary. Testing can be limited only to CMV, particularly since other infectious agents, including toxoplasmosis, are uncommon in the United Kingdom. More understanding of the relevance of the different ultrasound features to congenital infections is also important.

Cytomegalovirus Infections↗
PubMed2005

Prenatal detection of deletion 6q13q15 in a complex karyotype.

OBJECTIVES: Prenatal diagnosis of a pregnancy with elevated maternal serum alpha-fetoprotein identified a karyotype with a complex chromosomal rearrangement, a Robertsonian translocation and a 6q deletion involving bands q13q15. Sonography identified mild IUGR, polyhydramnios and micrognathia. The infant presented with multiple congenital anomalies, primarily limited to the head and neck, including hypertelorism, broad nose, micrognathia, cleft palate, microglossia and low-set ears with microtia. METHODS: Amniocytes of the fetus and blood of the patient and her parents were analyzed by cytogenetics and fluorescence in situ hybridization. RESULTS: The karyotype on the fetus was 45,XX,t(3;21;20)(p12;q11.2;p11.2), del(6)(q13q15),der(13;14) (q10;q10)mat. CONCLUSION: The 13;14 Robertsonian translocation was inherited from the mother and the three-way translocation appeared to be balanced. The patient had facial dysmorphology similar to that which has been described in 6 previously reported cases with the same deletion involving 6q13q15. There was no recognizable abnormality of limbs or digits, and the autopsy did not identify defects involving the internal organs.

Abnormalities, Multiple↗
PubMed2001

Prenatal sonographic appearance of Beare-Stevenson cutis gyrata syndrome: two- and three-dimensional ultrasonographic findings.

Beare-Stevenson cutis gyrata syndrome is characterized by craniofacial anomalies, particularly craniosynostosis, ear defects, cutis gyrata, acanthosis nigricans, anogenit anomalies, skin tags, and prominent umbilical stump. The prenatal two- and three-dimensional ultrasonographic findings of this rare condition is reported. The detection was made at 32 weeks of gestation in a woman with polyhydramnios and fetal head anomaly. The ultrasound appearance and postnatal follow-up are presented.

Abnormalities, Multiple↗
PubMed2006

Prenatal diagnosis of Freeman-Sheldon syndrome and usefulness of an ultrasound fetal lip width normogram.

OBJECTIVES: Freeman-Sheldon syndrome (FSS) is a rare genetic condition with facial and joint abnormalities. Here we report the first case of prenatal diagnosis in a fetus with negative familial history for this syndrome. A chart of the fetal mouth length was generated and its usefulness verified. METHODS: A cross-sectional study was carried out to derive standard charts for fetal lip lengths. The study population was made up of 371 fetuses between 15 and 38 weeks of gestation examined only once for this purpose. A statistical analysis previously recommended to derive normal ranges in fetal growth charts was employed. RESULTS: A 34-year-old woman was referred at 28 weeks of gestation for polyhydramnios and clubfeet. A detailed scan confirmed those findings and showed joint contractures of hands, a severe microstomia with a 'whistling' mouth, and an H-shaped mark over the chin. FSS was suspected, though there was no family history for this genetic syndrome. After emergency delivery at 32 weeks, the syndrome was confirmed. The infant died two months later from pneumonia. Upon construction of a standard mouth length chart, it was found that the fetal lip width in this case of FSS was well below the 5th centile. CONCLUSION: Here we present a standard chart for fetal lip width. We demonstrated its usefulness in cases with fetal face anomalies. Specific charts are fundamental for an objective assessment of the fetal parameters.

Adult↗
PubMed2006

Klippel-Trenaunay-Weber syndrome involving fetal thigh: prenatal presentations and outcomes.

OBJECTIVES: We analyzed the prenatal presentations and perinatal outcomes of Klippel-Trenaunay-Weber syndrome involving fetal thigh in order to provide relevant information for prenatal counseling. METHODS: We reviewed our own cases and searched for cases from Medline that met the criteria of Klippel-Trenaunay-Weber syndrome involving fetal thigh. Those with isolated hemangioma, hemangioendothelioma, and hemangiolymphangioma were excluded. RESULTS: The cases of Klippel-Trenaunay-Weber syndrome involving fetal thigh, totaling 21, were collected for analysis. These included 19 cases from Medline search and two cases from our institution. The cases with lesions involving right thigh, left thigh, and both thighs were 12:8:1. The gender of affected fetuses was 9 male, 9 female, and 3 unknown. Among the 21 cases, 6 fetuses (28.57%, 6/21) had isolated thigh lesions, and the other 15 cases (71.43%, 15/21) had extensive lesions involving pelvis, abdomen, retroperitoneum, or thorax. Prenatal presentations varied with hypoechoic cystic mass with limb asymmetry, 95.23% (20/21); polyhydramnios, 38.09% (8/21); cardiomegaly, 19.04% (4/21); thick placenta, 9.52% (2/21); nonimmune hydrops fetalis, 9.52% (2/21); and oligohydramnios, 4.76% (1/21). Ten cases (47.62%, 10/21) underwent termination of pregnancy. For those who continued with pregnancy, the rate of complications with Kasabach-Merritt syndrome was 36.36% (4/11) and the mortality rate in the neonatal period was 45.45% (5/11). The causes of neonatal mortality in these five cases included consumption coagulopathy (Kasabach-Merritt syndrome), cardiac failure, sepsis, and prematurity. CONCLUSIONS: Klippel-Trenaunay-Weber syndrome involving fetal thigh is rare. Our review showed that the location of involvement on the right thigh is more than on the left. Males and females were equally affected. Nearly three fourths of the cases had extensive involvement over other parts of the body. Prenatal ultrasound finding of a raised thigh mass of significant size and limb asymmetry were the most important features. The mortality rate was as high as 45.45% in the neonatal period.

Abortion, Eugenic↗
PubMed2006

Familial diseases revealed by a fetal anomaly.

OBJECTIVES: The recognition of a fetal anomaly can lead to the same diagnosis being made in one of the asymptomatic parents unaware of the problem. We analyzed cases in which the discovery of a fetal anomaly led to the discovery of a genetic familial disorder. METHODS: Families in which the recognition of a fetal anomaly led to the same diagnosis being made in one of the asymptomatic parents were included. RESULTS: Twenty couples were included in the study. The fetal anomalies were cleft lip and palate (4), cardiac anomalies (2), cerebral anomalies (1), bilateral club feet with polyhydramnios, akinesia or camptodactily (5), nuchal anomalies (2), micromelia (3), polydactyly (2), and limited elbow extension (1). Genetic counselling helped establish nine maternal diseases as follows: Steinert disease (3), spinal muscular atrophy (1), antecubital pterygium (1), DiGeorge (1), Wardenburg type II (1), Charge (1) and Greig syndromes (1). Eleven paternal diseases were discovered, which were Noonan-like syndrome (1), paternal cervical anomalies (1), Goldenhar syndrome (1), dominant autosomal arthrogryposis (1), osteogenesis imperfecta (3), tuberous sclerosis (1), dominant transposition of great vessels (1), Weyers acrofacial dysostosis (1), and autosomal dominant holoprosencephaly (1). Twelve couples continued with pregnancy and eight opted for termination of pregnancy. CONCLUSION: The fetus is central in giving the first insight into a familial disorder. It can reveal familial diseases undiscovered in the parent and help understand the mode of transmission of an anomaly, mainly the autosomal dominant diseases with variable expressions.

Abnormalities, Multiple↗
PubMed2001

Split notochord syndrome - prenatal ultrasonographic diagnosis.

Split notochord syndrome is a rare condition that is characterized by a persistent connection of the gut and dorsal skin of the back, an enteric cyst and vertebral anomalies. We present two cases in which prenatal ultrasound showed polyhydramnios. In one case it was associated with vertebral abnormalities and a right-sided mediastinal cyst found to be the stomach. Postnatal evaluation confirmed the diagnosis of split notochord syndrome. The association of sonographic findings of hydramnios, thoracic cysts and vertebral anomalies suggests prenatal diagnosis of split notochord syndrome.

Adult↗
PubMed1983

Early prenatal detection of diastrophic dysplasia.

Diastrophic dysplasia, an autosomal recessive disorder, results in severe short-limbed dwarfism, progressive spinal and joint problems, and secondary psychosocial disability. The results of treatments are unsatisfactory. Four pregnant mothers at risk for an affected fetus were studied with an ultrasound scanner at 16 and 19 weeks of gestation. Each mother had a previous child with diastrophic dysplasia. The biparietal distance and the length of the long bones of the extremities were normal in three fetuses, whereas in one fetus there was a 30 per cent shortening of all long bones. The biparietal distance corresponded with the gestational age in all fetuses. In one fetus, diastrophic dysplasia was confirmed by fetoscopy and fetal radiograph at 19 weeks of gestation after the parents had decided to terminate the pregnancy. The skeletal radiograph and autopsy findings of the fetus verified the diagnosis. All other mothers were followed with repeated ultrasound examinations, and they delivered healthy babies. The retrospective follow-up of the four previous pregnancies and of the present one with affected fetuses disclosed that two mothers had had vaginal bleeding, two lymphedema, one abdominal pains, and one mother had had polyhydramnios. These complications were, however, mild and transient, and they could not be regarded as specific for pregnancies with affected fetuses.

Abnormalities, Multiple↗
PubMedDate not supplied

Prenatal ultrasonic findings in congenital chloride diarrhoea.

In 3 fetuses affected by congenital chloride diarrhoea there were characteristic prenatal ultrasonic findings. In all cases the fetal abdominal cavity was filled with distended loops of fetal intestine, the fetal stomach was of normal size and polyhydramnios was present. The prenatal ultrasonic findings in this metabolic inherited disease are identical to those caused by mechanical obstruction of the distal fetal intestine. Whenever these findings are encountered prenatally, the possibility of chloride diarrhoea should be considered, because therapy with electrolytes is needed rather than the surgical intervention required in mechanical intestinal obstruction.

Adult↗