Third trimester ultrasonic presentation of infantile polycystic kidney disease

Infantile polycystic kidney disease (Potter's Type 1) is an autosomal recessive disorder that affects the kidneys and liver. Use of ultrasound to make the diagnosis prenatally is well documented and, in fact, it is advocated as a screening device for second-trimester identification of potentially affected fetuses. The sonographic appearance is characterized by enlarged hyperechoic kidneys, enlarging fetal abdominal circumference, and oligohydramnios. It is suggested that a ratio of the kidney circumference to the abdominal circumference (KC/AC) be used as method of quantifying renal size and as a potential indicator of early kidney enlargement associated with infantile polycystic kidney disease (IPKD). We report a case of serial ultrasound examination of a pregnancy at risk for IPKD where the in utero diagnosis was not established until the third trimester.     

Unusual sonographic features of ARPKD

The classic sonographic appearance of the kidneys in fetuses with autosomal recessive polycystic kidney disease (ARPKD) has been well described. We report a case of enlarged kidneys with pyramidal hyperechogenicity quite similar to medullary nephrocalcinosis found in a fetus at 34 weeks' gestation. At 39 weeks, a female neonate was delivered and died after 22 h due to pulmonary insufficiency secondary to severe oligohydramnios. On pathological analysis, the gross and microscopic findings were typical of ARPKD with diffuse dilatation of tubules throughout. The fetal renal lobulation was prominent and on section, the pyramids were delineated within each lobule, accounting for the clear image of the pyramids observed on sonography.     

Adequate timing of fetal ultrasound to guide metabolic therapy in mild gestational diabetes mellitus. Results from a randomized study

BACKGROUND: Ultrasound assessment of abdominal circumference early in the third trimester had been proposed to introduce insulin therapy in order to prevent fetal overgrowth in women with mild gestational diabetes mellitus. The purpose of this study was to investigate adequate weeks gestation timing for testing this parameter. METHODS: One hundred and forty-one women were included in a randomized trial. Seventy-three women were evaluated at both 28 and 32 weeks gestation whereas 68 women were investigated only at 32 weeks gestation. In both groups, insulin therapy was promptly started when abdominal circumference exceeded the 75th percentile. Macrosomic rates were compared using the Fisher's exact test. RESULTS: Twenty-nine women whose fetal abdominal circumference exceeded the 75th percentile were considered eligible for insulin therapy. In this group, we observed a statistically significant increase in the percentage of macrosomic infants born from women whose ultrasound abdominal circumference assessment was performed only at 32 weeks gestation when compared to women evaluated at both 28 and 32 weeks gestation (71.43% vs 33.33%, p<0.05). CONCLUSIONS: Our results support the need for fetal ultrasound at 28 weeks gestation to direct metabolic therapy since insulin administration introduced after 32 weeks gestation has a poor effect on fetal growth.     

Prenatal diagnosis of de novo (7;19)(q11.2;q13.3) translocation associated with a thick corpus callosum and Wilms tumor of the kidneys

We present a case of prenatal diagnosis of a de novo (7;19)(q11.2;q13.3) translocation associated with ultrasound features, including enlarged cisterna magna, normal vermis, thick corpus callosum, micrognathia, small and low-set ears and right hyperechogenic kidney. Karyotyping was performed at 24 weeks of gestation. Termination of pregnancy was accepted at the parents' request. Postmortem examination confirmed the prenatal findings, but revealed bilateral Wilms tumors of the kidneys. Parental karyotype was normal.     

Prenatal sonographic assessment of the fetal thorax: normal values

Fetal thoracic circumference and thoracic length measurements were obtained by ultrasonographic examination on 576 women between 16 and 40 weeks gestation. Nomograms for thoracic circumference and thoracic length with respect to gestational age were developed. Growth of both thoracic parameters was observed to be linear throughout gestation. In normal pregnancy the ratios of thoracic circumference to abdominal circumference and thoracic length to humerus length remained virtually constant at 0.89 and 0.93, respectively.     

Oxytocin secretory response to breast stimulation in pregnant women

Infantile polycystic kidney disease in an autosomal recessive disorder which in its severe form is characterized by bilateral renal enlargement and renal failure. The present study was undertaken to assess the diagnostic accuracy of antenatal sonography in a population at risk. Nineteen patients with fetuses at risk for infantile polycystic kidney disease were referred for ultrasound examination to the Perinatal Unit at Yale-New Haven Hospital. Ten infants had infantile polycystic kidney disease (53%). A positive antenatal sonographic diagnosis was made by the presence of oligohydramnios, an absent urinary bladder, bilateral renal enlargement as measured by the kidney circumference-to-abdominal circumference ratio, and the typical hyperechogenic appearance of the kidneys in the disease. A correct antenatal diagnosis was made in nine of the 10 affected infants. There were no false positive diagnoses. A false negative diagnosis occurred in an infant with a less severe form of the disease. Ultrasound is a valuable tool in the antenatal diagnosis of infantile polycystic kidney disease.     

Ultrasound evaluation of pregnancies at risk for homozygous alpha-thalassaemia-1

Twenty-six pregnant Chinese women who were at risk of giving birth to a fetus affected with homozygous alpha-thalassaemia-1 were examined serially by ultrasound. Six of these 26 pregnancies were affected. In one third of the affected pregnancies progressive fetal ascites appeared before 24 weeks gestation and these pregnancies were terminated. In the remaining two thirds abnormal estimated fetal weight-placental volume (EFW-PV) ratio and fetal growth retardation as evidenced by a falling biparietal diameter (BPD), femur length (FL) but a normal abdominal circumference (AC) was apparent by 28 weeks gestation. Increased transverse cardiac (TC) diameter was another consistent finding but appeared late. All these features appeared before the onset of fetal ascites. A normal EFW-PV ratio and fetal growth until 28 weeks gestation was a reassuring sign of normality. Abnormal EFW-PV ratio was the earliest sign to appear in affected pregnancies and a normal ratio until 28 weeks gestation had a 100 per cent predictive value.     

Biometry of the fetal heart between 10 and 17 weeks of gestation

OBJECTIVES: Assessment of the dimensions of the cardiac chambers and the great arteries in the human fetus may be helpful in the prenatal diagnosis of congenital heart disease. The purpose of this prospective cross-sectional study was to compile normative data in fetal cardiac measurements in early pregnancy. The structure of the fetal heart was examined in 136 normal singleton fetuses between 10 and 17 weeks of gestation. METHODS: The transversal heart diameter, both ventricular dimensions, interventricular septal thickness, heart area, heart circumference, thoracic diameter, thoracic circumference and thoracic area were measured in the four-chamber view during diastole. Diameters of the pulmonary trunk and ascending aorta were obtained in the short axis and long axis view during systole. Ultrasound examinations were performed with a 5.0-MHz transvaginal and/or transabdominal phased-array sector scanner. RESULTS: The four-chamber view and the cross-over of the pulmonary artery and the aorta were adequately visualized in 44% of the fetuses at 10 weeks of gestation, in 75% at 11 weeks of gestation, in 93% at 12 weeks of gestation and in 100% of the fetuses at 13-17 weeks of gestation. Before 14 weeks of gestation transvaginal sonography was superior to the transabdominal sonography in visualization of the fetal heart and great arteries. After 14 weeks of gestation transabdominal sonography accurately demonstrated the structure of the fetal heart. The ratio of right and left ventricle (RV/LV) and the ratio of the pulmonary trunk and aorta (PT/AO) were constant during this period of gestation (approximately 1.00 and 1. 10, respectively). The ratio of the cardiac and thoracic area showed only a slight increase with advancing gestational age, but with significant correlation. The fetal heart rate showed a slow decrease from 167 to 150 bpm in this period of gestation. The transversal heart diameter, both ventricular dimensions, interventricular septal thickness, heart area, cardiothoracic diameter ratio, aortic diameter and the pulmonary trunk diameter showed a highly significant linear correlation to the gestational age and the biparietal diameter. CONCLUSION: The advancing quality of ultrasound images allows fetal echocardiography in the first and early second trimester. Our normative data could be the basis of studying the development of cardiac structures in congenital heart disease and it might be helpful in the detection of some congenital heart defects in early pregnancy.     

Prenatal ultrasound findings in complete trisomy 9

This case report describes a 40-year-old woman, primigravida. On 13,3 weeks of gestation we diagnosed an abnormal flow pattern in the umbilical artery and abnormal hyperechogenic structure in fetal abdomen. In next sonographic examination on 16 weeks of gestation we diagnosed ventriculomegaly and ahydramnion. We also observed spina bifida, hyperechogenic kidneys, abnormal flow pattern in the umbilical vein and pulmonary valve insufficiency. We performed genetic amniocentesis. We observed complete trisomy in cytogenetic examinations. The woman opted for an elective TOP according to the Polish Abortion Act on 20 weeks of gestation.     

Estimated fetal weight in the evaluation of growth in twin gestations: a prospective longitudinal study

A prospective longitudinal study was conducted in order to determine by sonographically estimated fetal weight the patterns of fetal growth in twins. Thirty-five healthy women with normal twin pregnancies were examined every three weeks from the 15th week of gestation to delivery. Among the measurements obtained were the biparietal diameter (BPD), the abdominal circumference, and the calculated fetal weight. From 15-28 weeks, the growth velocity of the BPD and abdominal circumference remained fairly constant, with a steady increase in incremental growth. Beyond this age, we observed a slowing in growth of the BPD, while the abdominal circumference continued at a constant rate. The growth velocity of the weight steadily increased throughout pregnancy. Although greater biologic variability in weight between twin A and B was observed as gestational age progressed, the overall mean weights of twin A and B were not statistically different. We have generated a nomogram of fetal weight gain throughout pregnancy.     

Prediction of growth discordance in twins with the use of abdominal circumference ratios

OBJECTIVE: The purpose of this study was to assess the accuracy of sonographic prediction of twin birth weight discordance using the abdominal circumference ratio. STUDY DESIGN: This was a prospective cohort of diamniotic twin gestations that underwent serial ultrasound examinations every 2 to 4 weeks from 11 to 38 weeks of gestation. Birth weight discordance was defined as > or =25% difference in birth weight, relative to the larger twin. The sensitivity, specificity, and predictive values for the abdominal circumference ratio were assessed for the prediction of growth discordance. RESULTS: Of 503 diamniotic twin pregnancies, 64 pregnancies (12.7%) had discordant fetal growth. The abdominal circumference ratio could be measured consistently throughout gestation in 100% of twin pairs. Receiver operating curve analysis showed that the abdominal circumference ratio was a good predictor of birth weight discordance (area under the curve = 0.80). An abdominal circumference ratio cutoff of 0.93 yielded a sensitivity and specificity of 61% and 84%, respectively. CONCLUSION: Twin birth weight discordance may be predicted at any gestational age with an abdominal circumference ratio <0.93.     

Evolution of left ventricular diseasein the fetus. Case report

A fetal case is described that showed a rapid progression from the features of initial left ventricular fibroelastosis at 20 weeks of gestation to a more marked dilation at 22 weeks and finally to a hypoplastic left ventricle with aortic stenosis at 24 weeks of gestation. This case confirms the evolutive character of left ventricular disease during fetal life.     

Fetal phenotypes and neonatal and early childhood outcomes in twins

OBJECTIVES: The purpose of this study was to evaluate factors associated with, and postnatal consequences of, altered patterns of fetal growth in twins. STUDY DESIGN: Fetal growth was measured at 28 weeks' gestation on 218 twins, including head circumference, abdominal circumference, and femur length, and characterized as > or < or =10th %ile; children were followed up until the age of three years. Logistic regression was used to generate odds ratios of perinatal factors associated with reduced fetal growth. RESULTS: Maternal height <62 inches was associated with reductions in femur length (adjusted odds ratio [AOR] 3.88, 95% CI 1.42-10.57) and abdominal circumference (AOR 8.63, 95% CI 2.41-30.94), while primiparity had a protective effect on both of these fetal measurements (AOR 0.28, 95% CI 0.13-0.64, and AOR 0.18, 95% CI 0.06-0.60, respectively), as well as head circumference (AOR 0.32, 95% CI 0.15-0.69). Smoking adversely affected femur and head growth (AOR 24.10, 95% CI 3.69-157.57, and AOR 10.82, 95% CI 1.73-67.79, respectively). Fetal reduction adversely affected femur and abdomen growth (AOR 5.85, 95% CI 1.52-22.51 and AOR 4.90, 95% CI 1.01-23.86, respectively), and monochorionicity and maternal weight gain <0.65 lb/wk before 20 weeks adversely affected femur growth (AOR 5.47, 95% CI 1.65-18.10, and AOR 3.39, 95% CI 1.34-8.59, respectively). At age 3 years, all categories of twins with reduced growth by 28 weeks' gestation were significantly shorter in height, and those with reduced abdominal circumference or head circumference at 28 weeks were also significantly lighter in weight compared with twins with adequate fetal growth by 28 weeks' gestation. CONCLUSION: These data identify short maternal height, smoking, monochorionicity, fetal reduction, and inadequate weight gain before 20 weeks as risk factors associated with reduced twin fetal growth by 28 weeks' gestation and significant residual reductions in height and weight through 3 years of age.     

Fetal heart rate and intrauterine growth.

OBJECTIVE--To assess whether fetal heart rate in early and late pregnancy relates to size at birth. DESIGN--Prospective study of fetal heart rates in early and late pregnancy. SETTING--Princess Anne Hospital, Southampton. SUBJECTS--63 primigravid women. MAIN OUTCOME MEASURES--Anthropometric measurements made on the newborn infant. RESULTS--There were no differences in heart rate between the sexes at 18 weeks gestation but by 36 weeks the boys had rates which were 4.4 beats lower than those of the girls. Higher fetal heart rate at 18 weeks was associated with lower ponderal index, smaller head circumference and smaller mid-arm circumference. There were no trends in fetal heart rate at 36 weeks with any birth measurements. CONCLUSION--Babies born at term who have a pattern of neonatal measurements which reflect growth retardation have raised heart rates in early pregnancy. Influences which impair fetal growth appear to take effect early in gestation.     

Lethal arthrogryposis with icthyosis: overlap with Neu-Laxova syndrome, restrictive dermopathy and harlequin fetus

We describe a stillborn female with joint contractures, subcutaneous oedema, ectropion, a severely flattened nose, an 'O' shaped open mouth and extensive peeling of skin. The head circumference was normal. She was born at 33 weeks of gestation to consanguineous parents, who had one previous offspring affected with non-immune hydrops fetalis. Pathological, radiological and prenatal findings are reported. The features of the present case are compared with those of Neu-Laxova syndrome, restrictive dermopathy and harlequin fetus.     

Failure of ultrasonographic parameters to predict the severity of fetal anemia in rhesus isoimmunization

Ultrasonographic measurements of placental thickness, extrahepatic and intrahepatic umbilical vein diameters, abdominal circumference, head circumference, head/abdominal circumference ratio, and intraperitoneal volume were made in 50 rhesus-isoimmunized pregnancies at 18 to 26 weeks' gestation. The severity of fetal anemia was assessed by fetal blood sampling. Results in the isoimmunized group were compared with a control population of 410 normal pregnancies at 17 to 32 weeks' gestation. In the absence of fetal hydrops, none of the parameters studied could reliably distinguish mild from severe fetal hemolytic disease.     

Clues and pitfalls in the early prenatal diagnosis of 'late onset' infantile polycystic kidney.

Infantile polycystic kidney disease (IPKD) is an autosomal recessive inherited disorder, IPKD has been previously diagnosed by us as early as the 14th week of gestation. 'Late onset' (third trimester) IPKD has been previously described by several authors. We present here a case of intrauterine detection of 'late onset' IPKD, suggesting that elongated hyperechogenic kidneys (with normal transverse and anteroposterior diameters) should be considered as an early sign of 'late onset' presenting IPKD.     

Neonatal head circumference and the treatment of maternal hypertension.

In a random controlled trial of methyldopa for the treatment of hypertension in pregnancy presenting before 28 weeks gestation, the newborn in the treated group had relatively smaller head circumferences. This difference persisted at two months of age when correction had been made for birth weight, gestation and sex, but was no longeer detectable at six or twelve months. Within the treated group no relationship was found between neonatal head circumference and the total amount or duration of methyldopa received during pregnancy. Comparison of treated and untreated groups according to the time of entry to the study showed that significant differences in neonatal head circumference were only present in patients who entered between 16 and 20 weeks gestation. It is possible that this could be a sensitive period for the interaction of fetal head growth and the onset of specific treatment in hypertensive pregnancy.     

A review of Meckel–Gruber syndrome – incidence and outcome in the state of Qatar

Meckel–Gruber (MKS) syndrome is a lethal autosomal abnormality diagnosed most commonly from classical findings on ultrasound scan after the late first trimester. There are few reports of cases followed up antenatally until delivery. We report here one of the largest series of 19 cases diagnosed antenatally from as early as 11 weeks gestation with 5 born alive. Of the 12 cases followed up antenatally, 7 were stillbirths while 5 were live births. The absence of obvious polycystic kidneys and severe oligohydramnios were prognostic features consistent with a live birth; however, mortality was 100% within a few weeks of delivery. The incidence of 2/1000 live births in the local population is similar to that reported from similar groups where consanguinity is more than 40%. The recurrence rate was high with 50% of the parous patients having had an affected baby. We conclude that diagnosis in early pregnancy does not require the classical triad of encephalocele, polydactyly and polycystic kidneys as some of these features do not manifest on imaging until much later.