Prenatal sonographic features of isolated hypoplastic left heart syndrome

Hypoplastic left heart syndrome (HLHS) is a spectrum of fetal conditions associated with severe hypoplasia of the left ventricle and left ventricular outflow tract. The purpose of this series was to focus on the sonographic prenatal features of isolated HLHS. Based on the 5 cases presented here, the prenatal sonographic features of HLHS include small-sized left ventricle, atretic or hypoplastic mitral valves with restricted motion and a small amount of antegrade flow or regurgitation, and hypoplastic ascending aorta. Retrograde flow in the transverse aortic arch strongly suggests inadequate systemic output from the left heart. Tricuspid regurgitation is common and increases the chance for the development of hydrops. Other findings may be helpful, including left ventricular hyperechoic endocardium and increased nuchal translucency at 11-14 weeks. With careful fetal echocardiography, HLHS may be readily observed on a 4-chamber view as either a small or even absent left ventricle.     

Giant choledochal cyst and infantile polycystic kidneys as prenatal sonographic features of Caroli syndrome

Caroli syndrome is a developmental disorder caused by complete or partial arrest of ductal plate remodeling, leading to dilated bile ducts along with fibrosis surrounding the portal tracts. It is most commonly associated with autosomal recessive polycystic kidney (ARPKD). We report a unique case of Caroli syndrome, diagnosed prenatally at 24 weeks of gestation in a 29-year-old Thai woman. Ultrasound findings revealed the association of a fetal giant choledochal cyst with ARPKD. Autopsy findings showed ductal plate malformation, typical of Caroli syndrome, associated with giant choledocal cyst and ARPKD.     

Prenatal sonographic features of fetal mediastinal teratoma

Mediastinal teratoma can cause severe hydrops fetalis, which worsens the effects of the mass compression on the vital mediastinal organs. A careful sonographic examination is mandatory to demonstrate the characteristic features suggestive of this congenital tumor. We describe these features at 20 weeks gestation. The most prominent finding was the heterogeneous echogenicity of a large cystic-solid mass with hyperechoic dots, seen as a part of the anterior mediastinum immediately posterior to the sternum. Additional diagnostic features included posterior displacement of the heart, low cardiac output, and hypoplasia of the normally structured heart and lungs due to the direct mass compression. These sonographic findings were confirmed at autopsy which confirmed a nonmetastatic immature teratoma. Sonography may enable accurate diagnosis of mediastinal teratoma considering the anterior location and heterogeneous appearance of the mass, posterior displacement of the heart, normal lung morphology, and compression effects on these organs.     

Three-dimensional ultrasound: Display modalities in obstetrics

Three-dimensional ultrasound (3DUS) has recently been introduced into clinical practice. Various techniques are available for display of the volume data. We review the importance of selecting the proper display option and rendering mode depending on the specific diagnostic question. Current display options include (1) arbitrary planar images similar to conventional two-dimensional US images, (2) surface rendering with emphasis on soft tissues or skeletal detail, (3) stereo viewing using liquid crystal glasses or red/blue glasses, and (4) cine review of gated studies. Rotation of volume data also is important in understanding/comprehending patient anatomy. The range of rotation angles varies depending on the clinical setting. Also data storage requirements increase as the number of views increases. © 1997 John Wiley & Sons, Inc. J Clin Ultrasound 25:157–167, 1997     

Prenatal sonographic diagnosis of congenital varicella syndrome

Congenital varicella syndrome is a rare disorder occurring in less than 1% of maternal varicella during early pregnancy but is associated with high fetal morbidity and mortality. This case report aimed to describe the sonographic features of congenital varicella syndrome following maternal varicella. Well-documented maternal chicken pox was made at 12 weeks of gestation and prenatal ultrasound was performed at 16 weeks. Striking sonographic features included hydropic changes and disseminated calcifications in multiple organs, especially liver and myocardium. Elective termination of pregnancy was done at 17 weeks. The presence of disseminated calcifications could suggest the diagnosis of congenital varicella syndrome.     

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.     

Prenatal sonographic features of dyssegmental dysplasia Rolland-Desbuquois type

Dyssegmental dysplasia is a rare, lethal, autosomal-recessive disorder characterized by severe camptomicromelia and anisospondyly. We describe the prenatal sonographic findings in an index case of the Rolland-Desbuquois type, with the diagnosis made by neonatal skeletal survey. Recognition of the unique vertebral disorganization may be used to prenatally distinguish dyssegmental dysplasia from other severe short-limbed conditions.     

Congenital short-bowel syndrome: Prenatal sonographic findings of a fatal anomaly

The sonographic findings in a fatal case of congenital short-bowel syndrome are reported. Sonography at 11 weeks of gestation showed a 11 × 6 mm hyperechoic mass interpreted to be a midgut umbilical hernia. A repeat scan 2 weeks later showed an intact anterior abdominal wall, no umbilical herniation, and appropriate fetal growth. Forty-eight hours after full-term, vaginal delivery, the infant began vomiting bile and passing blood rectally. Imaging studies showed distended bowel loops without air-fluid levels and incomplete bowel obstruction. Laparotomy showed malrotation and short small bowel without volvulus. The infant died at 9 weeks of age. When delayed return of the midgut to the abdominal cavity is noted on prenatal sonograms, follow-up sonograms should be done throughout the second trimester, especially in patients with a family history of short-bowel syndrome, to search for dilated short bowel loops. If such loops are found, patients should be given options for pregnancy termination. © 1998 John Wiley & Sons, Inc. J Clin Ultrasound 26 : 106–108, 1998.     

Prenatal sonographic diagnosis of Majewski syndrome

Majewski syndrome is an autosomal recessive disorder characterized by short ribs, polydactyly, short limbs, and a cleft lip. A 26-year-old woman with no family history of genetic diseases presented at 31 weeks' menstrual age with preterm labor and underwent prenatal sonography to screen for fetal anomalies. Sonography revealed a small thorax, markedly short ribs, micromelia, polydactyly, a cleft lip, dolichocephaly, and severe oligohydramnios. The other structures appeared normal. The most likely diagnosis was Majewski syndrome. Vaginal breech delivery was allowed to proceed. The 1,850-g male newborn died of respiratory failure shortly after birth. The postnatal appearance and radiographs confirmed the prenatal diagnosis.     

Two‐ and three‐dimensional prenatal sonographic diagnosis of prune‐belly syndrome

We report the prenatal diagnosis of 6 cases of Prune‐belly syndrome in the 2^nd trimester. The sonographic diagnosis was based on the findings of oligohydramnios, renal anomalies, and a lower abdominal cystic mass representing the abnormal dilatation of the bladder on conventional 2‐dimensional sonographic examination. We discuss the role of Doppler imaging and 3‐dimensional sonography as complementary methods to conventional sonography. Four of our 6 cases were confirmed with associated defects. © 2009 Wiley Periodicals, Inc. J Clin Ultrasound, 2010     

Three-dimensional sonographic features of discordant twins

Three-dimensional sonography clearly revealed significant antenatal differences in size in three pairs of fetal twins. The benefits and advantages of the use of three-dimensional sonography to visualize discordant twins in utero are visual recognition of difference in fetal size and complete impression of fetal interrelationships.     

Prenatal sonographic diagnosis of Beckwith-Wiedemann syndrome in association with a single umbilical artery.

Beckwith-Wiedemann syndrome is an inherited disorder most commonly characterized by prenatal or postnatal overgrowth, macroglossia, omphalocele, unusual earlobe creases, and increased risk of neoplasia. Several reported cases of this syndrome have been prenatally diagnosed, but no report has described the occurrence of this syndrome in association with a single umbilical artery. We report a case in which prenatal sonographic examination demonstrated fetal overgrowth, macroglossia, and omphalocele together with a single umbilical artery; our prenatal diagnosis of Beckwith-Wiedemann syndrome was confirmed after birth of the infant. The possibility of this syndrome should be considered when performing a detailed sonographic examination of a fetus with a single umbilical artery.     

Prenatal ultrasonographic features of Joubert syndrome

We describe the prenatal imaging of 2 fetuses at risk for Joubert syndrome (JS). In the first case, the mother, who had previously given birth to a child with JS, was referred to our hospital at 17 weeks' gestation. The prenatal diagnosis of JS complicated with an encephalocele was made. In the second case, the mother had previously given birth to 2 children with JS. A diagnosis of JS complicated with postaxial polydactyly of the right foot was made. In both cases, the pregnancy was terminated following genetic counseling. Postmortem examinations confirmed the diagnosis of JS.     

Three-dimensional sonographic measurement of fetal renal volume

Objective The objective of this longitudinal study was to evaluate the growth of the fetal kidney in normal pregnancies using three-dimensional ultrasound. Methods Three-dimensional sonographic examinations were performed on 13 appropriate-for-gestational-age fetuses. Fetal renal volume was measured every 2 to 3 weeks after 20 weeks gestational age until delivery. Results There was a good linear correlation between left and right renal volumes (r = 0.9614, P < 0.0001). Curvilinear relationships were found between gestational age and left and right renal volume (left: R² = 79.1%, P < 0.0001; right: R² = 74.2%, P < 0.0001), and normal ranges of left and right renal volume measurements for estimating the growth of the fetal kidney during normal pregnancy were generated. There was a difference for each predicted value of the fetal renal volume in the third trimester of pregnancy in our study and in two other previous studies. The left and right fetal renal volume to estimated fetal weight ratios were constant during the pregnancies studied. Conclusion Our findings suggest that fetal renal volume measurement plays a role in assessment of the growth of fetal kidneys. However, we are doubtful about the reproducibility of fetal renal volume measurements made by using three-dimensional ultrasound in utero. Further studies involving larger sample sizes are needed to reevaluate the usefulness and reproducibility of fetal renal volume measurements.     

Pai syndrome: From the womb until 19 months of age,a neurological development success story

A prenatal and postnatal follow‐up of a child with Pai syndrome, especially till toddler age, allows a better understanding of the evolution of this syndrome. This offers insight on possible outcomes especially in what concerns the neurodevelopment.     

Two- and three-dimensional prenatal sonographic diagnosis of hepatic cysts

We describe the 2-dimensional and 3-dimensional multiplanar sonographic diagnosis and characterization of isolated hepatic cysts in 2 fetuses. Two-dimensional imaging of a fetus at 36 weeks' gestation revealed 2 right upper quadrant cystic masses anterior to the gallbladder, demonstrating no peristalsis or blood flow. Postnatal sonographic examination confirmed 2 simple hepatic cysts. Two- and three-dimensional sonograms suggested 2 hepatic cysts in a 23-week-old fetus that resolved by 33 weeks' gestation. In reporting 2 unusual cases of prenatally diagnosed fetal hepatic cysts, we also demonstrate the diagnostic use of 3-dimensional multiplanar imaging.     

Three-dimensional sonographic volume measurement of the fetal cerebellum

Purpose The objective of this longitudinal study was to evaluate the growth of the fetal cerebellum in normal pregnancy by using three-dimensional ultrasound. Methods Three-dimensional sonographic examinations were performed for 13 appropriate-for-gestational-age fetuses. Fetal cerebellar volume was measured every 2 to 3 weeks after 20 weeks of gestational age until delivery. The common multiplanar technique was used to calculate the fetal cerebellar volume. Results A curvilinear relationship was found between gestational age and cerebellar volume (R² = 78.6%, P < 0.0001), and normal ranges of cerebellar volume measurements for estimating the growth of the fetal cerebellum during normal pregnancy were generated. The data gathered in this study were fairly comparable with previous data obtained using three-dimensional ultrasound. However, the normal ranges of cerebellar volume that we determined were relatively wide throughout pregnancy. Conclusions Our findings suggest that a standard curve for fetal cerebellar volume using three-dimensional ultrasound can play a role in the evaluation of normal cerebellar growth in the fetus. However, we do cast doubt on the reliability and reproducibility of cerebellar volume measurement using three-dimensional ultrasound. Further studies involving a larger sample size and another technique (the rotational method with VOCAL) would be needed to confirm these findings.     

13-三体综合征胎儿的孕中期超声指标分析

目的 评估孕中期超声检查对13-三体综合征胎儿的诊断价值。方法 回顾分析本院26胎经染色体核型分析确诊为13-三体综合征胎儿的声像图资料。结果 前脑无裂畸形12胎(12/26,46.15%)、唇/腭裂9胎(9/26,34.62%)、室间隔缺损9胎(9/26,34.62%)、肾脏异常8胎(8/26,30.77%)、眼眶异常7胎(7/26,26.93%)、鼻发育异常5胎(5/26,19.23%)、脑室增宽4胎(4/26,15.38%)、羊水过多伴宫内生长受限2胎(2/26,7.69%)、独眼1胎(1/26,3.85%)。声像图异常率为92.31%(24/26),均表现为2种及以上异常指标。结论 孕中期超声检查对诊断13-三体综合征具有一定的意义;结合染色体核型分析可提高13-三体综合征的产前诊断率,并能降低其出生率。     

Three-dimensional sonographic measurement of liver volume in the small-for-gestational-age fetus.

OBJECTIVE: To assess the growth of the fetal liver in normal pregnancies and to evaluate the ability of fetal liver volume measurement for prediction of small-for-gestational-age fetuses. METHODS: Three-dimensional sonographic examinations were performed on 14 appropriate-for-gestational-age and 10 small-for-gestational-age fetuses. Liver volume and liver length were measured every 2 weeks after 20 weeks' menstrual age until delivery. RESULTS: A curvilinear relationship was found between the menstrual age and liver volume (R2 = 88.4%; P < .0001), and a normal range of liver volume measurement for estimating the growth of the fetal liver during normal pregnancy was generated. Liver length was normal in 7 of 10 small-for-gestational-age fetuses, whereas liver volume values in all small-for-gestational-age fetuses were below normal ranges in the mid to late third trimester. CONCLUSIONS: Our findings suggest that liver volume may be a useful measurement for diagnosing small-for-gestational-age fetuses in the mid to late third trimester but that liver length may not be predictive. Further studies involving a larger sample size would be needed to confirm this suggestion.     

Prenatal sonographic features of trisomy 1q

We describe the sonographic features of trisomy 1q in 2 affected fetuses and identify 17 other published reports of this entity in the literature. Four of 5 (80%) diagnoses made at < or = 14 weeks' gestation demonstrated increased nuchal translucency or cystic hygroma colli. During the second and third trimesters, findings included cerebral ventriculomegaly (n = 8 [57%]), nuchal skin fold > or = 6 mm or cystic hygroma colli (n = 5 [36%]), urinary anomalies (n = 5 [36%]), digit malformations (n = 5 [36%]), and abnormal amniotic fluid volume (n = 6 [40%]). Findings in trisomy 1q may be influenced by coexisting chromosomal deletions or mosaicism. Sonographic features generally reflect the location and size of the 1q duplication.