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PubMed1995

Sonographically determined anomalies and outcome in 170 chromosomally abnormal fetuses.

Structural pathology and outcome were studied in 170 chromosomally abnormal fetuses. Numerical chromosomal abnormalities were established in 158 (93 per cent) cases, of which 110 (71 per cent) represented trisomies, 30 (18 per cent) Turner syndrome, and 18 (11 per cent) triploidy. Structural chromosomal abnormalities were diagnosed in 12 (7 per cent) cases. Gestational age at referral was significantly shorter for pregnancies with Turner syndrome than for the other chromosomal abnormalities. Referral before 20 weeks of gestation was mainly based on fetal structural pathology alone (92 per cent); after 20 weeks, patients were referred because of structural pathology combined with small for gestational age, oligohydramnios, or polyhydramnios. Referral as a result of suspected multiple organ pathology occurred in 73.5 per cent of pregnancies. An abnormal amniotic fluid volume was present in 59/170 (34.5 per cent) chromosomally affected pregnancies, i.e., oligohydramnios in 31 and polyhydramnios in 28 cases. Birth weight was below the tenth percentile in over half of the chromosomally abnormal fetuses, except for Turner syndrome. Fetal outcome was poor, with a survival rate at 1 month of 30 per cent for trisomies which was mainly determined by trisomy 21 (14/18 = 77.5 per cent).

Adult↗
PubMed2002

Can we predict 22q11 status of fetuses with tetralogy of Fallot?

OBJECTIVE: To determine if chromosome 22q11 deletion status can be predicted in fetuses with tetralogy of Fallot as regards additional phenotypic anomalies. METHODS: One hundred and fifty-one consecutive fetuses with tetralogy of Fallot without or with pulmonary atresia were screened for 22q11 deletion. Additional echographic features [increased nuchal translucency (NT), intrauterine growth retardation (IUGR), polyhydramnios, extracardiac malformations, pulmonary arteries abnormalities] were noted. RESULTS: Twenty-five fetuses had a 22q11 deletion (16.6%). Increased NT, polyhydramnios and IUGR were more frequent in fetuses with 22q11 deletion as well as pulmonary arterial abnormalities. When these different features were present in the same fetus with tetralogy of Fallot, 22q11 deletion can be predicted with a sensitivity of 88%. CONCLUSION: Simple echographic features can help to predict 22q11 status in fetuses with tetralogy of Fallot. This may improve the efficiency of prenatal screening for this defect.

Chromosomes, Human, Pair 22↗
PubMed2002

Prenatal findings in a monozygotic twin pregnancy with Costello syndrome.

This report describes the prenatal findings in monozygotic twins with Costello syndrome. At 16 weeks one twin had 9 mm of nuchal oedema: coarctation of the aorta was diagnosed after birth. At 22(5/7) weeks relative macrocephaly, mild pyelectasia and moderate polyhydramnios were noted in both twins. In the following 4 weeks the polyhydramnios increased significantly without visualisation of filling of the stomach. Between 27(5/7) and 30(2/7) weeks a total of 9 l amniotic fluid was drained and at 30(4/7) weeks prelabor premature rupture of membranes (PPROM) occurred followed by premature labor and delivery. The neonatal period was complicated by growth retardation, deglutition problems, hypotonia, cardiac and respiratory problems. Both twins died on Day 57 because of respiratory insufficiency.

Abnormalities, Multiple↗
PubMed2002

Prenatal diagnosis of Pierre-Robin sequence as part of Stickler syndrome.

Stickler syndrome or hereditary progressive arthro-ophthalmopathy, is an autosomal dominant condition characterized by ocular manifestations, arthritic changes, orofacial features and deafness, in variable degrees.We report the first case of prenatal diagnosis of Stickler syndrome in a child with a Pierre-Robin sequence (PRS) causing a polyhydramnios. When isolated polyhydramnios is not explained by immunological, metabolic or infectious causes, swallowing difficulty due to PRS must be considered. As PRS is aetiologically heterogeneous, the prognosis depends on the cause. Genetic investigations and familial history must be taken into account. Here, in a context of familial Stickler syndrome, making the prenatal diagnosis of PRS as part of Stickler syndrome allowed us to reassure the parents and to anticipate airway trouble at the child's birth.

Abnormalities, Multiple↗
PubMed2002

Perinatal imaging findings of inherited Sotos syndrome.

OBJECTIVES: Although most cases of Sotos syndrome are sporadic, familial cases have been described. In familial cases, the most likely mode of inheritance is autosomal dominant with variable expressivity. We present the perinatal imaging findings of an inherited case. CASE: This was the second pregnancy of a 32-year-old woman with Sotos syndrome. She had given birth to her first child with macrocephaly, ventriculomegaly, macrocisterna magna and neonatal death at 28 weeks' gestation. During this pregnancy, prenatal ultrasonography at 18 weeks' gestation showed only mild dilatation of lateral ventricles. The pregnancy was uneventful until 31 weeks' gestation when fetal macrocephaly, right hydronephrosis, and polyhydramnios began to develop. At 33 weeks' gestation, dilatation of the third ventricle and fetal overgrowth were obvious. At 34 weeks' gestation, macrodolichocephaly, hypoplasia of the corpus callosum, enlargement of the lateral ventricles with prominent occipital horns, and macrocisterna magna were noted. At 36 weeks' gestation, a male baby was delivered with macrodolichocephaly, frontal bossing and a facial gestalt of Sotos syndrome. Birth weight was 3822 g, length 55 cm, and occipitofrontal head circumference 41 cm (all > 97th centile). The magnetic resonance imaging (MRI) scans demonstrated enlargement of the lateral ventricles, the trigones, and the occipital horns, hypoplasia of the corpus callosum, a persistent cavum septum pellucidum and cavum vergae, and macrocisterna magna. CONCLUSIONS: Fetuses at risk for Sotos syndrome may present abnormal sonographic findings of the brain and the skull in association with overgrowth, unilateral hydronephrosis and polyhydramnios in the third trimester. Perinatal MRI studies aid in confirmation of the diagnosis.

Adult↗
PubMed2003

Prenatal diagnosis of congenital mesoblastic nephroma in mid-second trimester by sonography and magnetic resonance imaging.

Although congenital mesoblastic nephroma (CMN) is a rare benign congenital renal tumor, it is the most common solid renal tumor in the newborn period. The most common presentation of congenital mesoblastic nephroma is polyhydramnios, and only one case with prenatal fetal hydrops has been previously reported. Prenatal diagnosis of CMN has previously been made on the basis of the findings of sonography in the third trimester, and magnetic resonance imaging (MRI)-based diagnosis has been reported recently. Here we report a case of prenatally diagnosed classical type CMN diagnosed at 22 + 3 weeks of gestation based on the findings of sonography and magnetic resonance imaging. The characteristic imaging findings in this case were fetal hydrops and polyhydramnios. To our knowledge, this is the youngest reported gestational age for prenatal diagnosis of CMN and it is the second case of CMN associated with fetal hydrops detected prenatally.

Adult↗
PubMed2005

Prenatal findings in epidermolysis bullosa with pyloric atresia in a family not known to be at risk.

Epidermolysis bullosa with pyloric atresia (EB-PA) is a rare autosomal recessive genetic disease with a poor prognosis. We report a case of EB-PA in a non-consanguineous couple with a non-contributory family history. The primigravid woman was referred to us because of polyhydramnios associated with fetal gastric dilatation at 33 weeks of gestation. Maternal serum alpha-fetoprotein (AFP) had been elevated at 15 weeks' gestation (3.08 multiples of the median), and ultrasound examination showed polyhydramnios with echogenic amniotic fluid, gastric dilatation, and no other associated malformation. The fetal karyotype was normal female (46,XX). Acetylcholinesterase (ACHe) and AFP levels in the amniotic fluid were normal. Labor occurred spontaneously at 35 weeks' gestation. Clinical examination of the newborn showed large areas of cutaneous blisters and erosions, as well as pyloric atresia. Immunofluorescence analysis of skin samples confirmed EB-PA. Molecular analysis showed a new mutation of the integrin beta-4 gene: heterozygote missense deletions (3807delC/310delC, respectively, exons 31 and 5). The child died from severe sepsis at the age of 13 days. Our observation emphasizes the difficulty of interpreting prenatal ultrasound findings when there is no suggestive context.

Adult↗
PubMed2006

Dilemmas in the management of twins discordant for anencephaly diagnosed at 11 + 0 to 13 + 6 weeks of gestation.

OBJECTIVE: To help develop an evidence-based approach to the best management of twin pregnancies discordant for anencephaly. METHODS: We retrospectively examined the management and outcome of 18 pregnancies discordant for anencephaly diagnosed at 11 + 0 to 13 + 6 weeks of gestation in our center. We combined these data with those from other publications. In total, there were 44 dichorionic pregnancies that were managed expectantly (n = 35) or by selective feticide (n = 9) and 19 monochorionic pregnancies that were managed expectantly. We also reviewed the literature to ascertain the outcome of monochorionic twin pregnancies undergoing cord occlusion. RESULTS: In the 35 dichorionic pregnancies that were managed expectantly, 20 (57.1%) developed polyhydramnios at 25-31 weeks; 13 were managed expectantly, five had amniodrainage and two had selective feticide. In 34 of the 35 cases the non-anencephalic twin was liveborn at a median gestation of 36 (range, 28-39) weeks and in six (17.6%) of these it was born before 33 weeks. In the dichorionic pregnancies that had selective feticide, there was one miscarriage and eight (88.9%) live births at a median gestation of 37 (range, 30-40) weeks and in one (12.5%) of these it was born before 33 weeks. In the monochorionic pregnancies, four (21.1%) anencephalic fetuses died at 20-32 weeks and in three of these the normal co-twin also died. In the 16 (84.2%) cases resulting in the live birth of the normal twin, delivery occurred at a median gestation of 33 (range, 27-39) weeks and in six (37.5%) of these it was before 33 weeks. Ultrasound-guided bipolar cord coagulation in 92 pregnancies, mostly complicated by twin reversed arterial perfusion sequence or severe twin-to-twin transfusion syndrome, was associated with a survival rate of 77.2% and early preterm delivery rate of 31.0%. CONCLUSION: Dichorionic twins discordant for anencephaly are best managed with serial ultrasound examinations for early diagnosis of polyhydramnios, which can then be treated either by amniodrainage or selective feticide. In monochorionic twins it is uncertain whether the best management is expectant or by cord occlusion.

Anencephaly↗
PubMed1983

Radiographic diagnosis of meconium peritonitis. A report of 200 cases including six fetal cases.

The radiographic findings of 200 cases of meconium peritonitis were analyzed; 194 cases were discovered in newborn infants and six cases in fetuses. The radiographic features in the newborn group could be categorized as pneumoperitoneum with intestinal obstruction (adhesions) and calcification (35 cases), intestinal obstruction with calcification (143 cases), intestinal obstruction with no radiographically visible calcification (5 cases), and calcification alone (11 cases). All six cases of the fetal group were diagnosed when the mothers had been hospitalized for polyhydramnios and a plaque-like or ring-like calcification showed up in the fetal abdomen on the plain radiograph. Meconium peritonitis is one of the few conditions that can be diagnosed before birth and is almost the only condition around the time of birth to produce calcification in the abdomen. Therefore, if there is any sign of polyhydramnios, radiographs or ultrasonograms of the maternal abdomen should be obtained to detect any calcification within the peritoneal cavity of the fetus. A simple experiment carried out in rats showed that it takes at least eight days after the meconium escapes into the peritoneal cavity for calcification in the meconium to be radiographically demonstrable.

Adult↗
PubMedDate not supplied

Placental pathology in fetal bartter syndrome.

Bartter syndrome, which presents clinically with polyuria, urinary potassium loss, hypokalemia, hypercalciuria, and alkalosis, is an autosomal recessive disorder with mutations in genes encoding the Na-K-2Cl cotransporter, the chloride channel CLC-NKB, and the potassium channel ROMK. Prenatal diagnosis of Bartter syndrome is now possible; however, there are no reports of the placental pathology associated with fetal Bartter syndrome. We present the placental pathologic findings in two siblings with fetal Bartter syndrome. Both pregnancies were complicated by polyhydramnios and preterm delivery. The first pregnancy delivered at 30 weeks, and Bartter syndrome was diagnosed in the perinatal period. The subsequent pregnancy required periodic therapeutic amniocentesis secondary to massive polyhydramnios and delivered at 32 weeks gestation. The suspicion of fetal Bartter syndrome was very high in this second pregnancy, and the infant was confirmed to have Bartter syndrome subsequently. Both placentas were large for gestational age, weighing greater than the 95th percentile. Microscopic examination showed extensive subtrophoblastic basement membrane mineralization (special stains positive for iron and calcium) in the chorionic villi. This striking finding was present in both placentas. Subtrophoblastic mineralization has been described in the literature in placentas of fetuses with abnormalities including anencephaly, trisomy 21, and other congenital abnormalities; however, it has also been described in normal pregnancies. Mechanisms of calcification in the placenta are not well understood, but these striking cases suggest that defects in fetal renal excretion of ions can lead to dystrophic calcification within the placenta, particularly in a subtrophoblastic pattern.

Adult↗
PubMedDate not supplied

Renin gene expression in fetal kidneys of pregnancies complicated by twin-twin transfusion syndrome.

Twin-twin transfusion syndrome (TTTS) complicates one in five monochorionic pregnancies and is generally associated with high mortality and morbidity. One twin (the recipient) grows appropriately and has polyhydramnios while the other (the donor) may have a reduced growth velocity and severe oligohydramnios. The disparities in amniotic fluid volumes represent differences in fetal urine output. These differences occur secondary to hemodynamic changes, in which the vascular arrangement of placental anastomoses in TTTS leads to unidirectional flow from the donor to the recipient twin. A better understanding of the pathophysiology may contribute to improved management of this morbid condition. We studied three consecutive prospectively diagnosed stillborn twin pairs affected by early-onset TTTS. Renin gene expression was studied in sections of fetal kidneys with immunocytochemistry using a renin antiserum and with in situ hybridization using riboprobes complementary to renin mRNA, and renin-secreting cells (RCC) were counted. The overall maturation of the renal cortex was assessed by the percentage of immature glomeruli. The donor twin kidneys were smaller than those of the recipients, but the maturation of the renal cortex was not significantly different (28.2% immature glomeruli in the donor and 24.4% in the recipient kidney). The donor kidney showed increased renin gene expression with hyperplastic juxtaglomerular apparatuses (JGAs) that contained excess RCCs (median 20.02 [25th-75th centiles, 5.4, 25.1 RCCs per 100 glomeruli]). In contrast, the recipient kidney was virtually devoid of these cells (0.04 [0, 0.36] RCCs per 100 glomeruli; P < 0.05). In the donor kidney, increased renin release may, by a local action, contribute to renal vasoconstriction and oliguria. Increased renin and/or angiotensin II in the blood passing through the placental anastomoses may, by an endocrine action, suppress renin synthesis in the recipient kidney, thereby increasing renal blood flow and causing polyuria and polyhydramnios. These changes in the renal RAS could thus contribute to the pathogenesis of TTTS. The renal renin changes noted here may represent a contributory or compensating mechanism, the success of which may dictate the overall survival of the twin pregnancy and allow better understanding of the pathophysiology and perhaps therapy that may be employed in this condition.

Adult↗
PubMed1981

Clinical features of pregnancies with fatal fetal abnormality.

Obstetrical features and antenatal findings in 68 pregnancies with fatal fetal abnormalities are evaluated. The course of the pregnancy was complicated in 81% of these cases, the most common complication being intrauterine fetal growth retardation (IUGR) which was typical for 18-trisomies and multimalformed fetuses. The retardation in symphyseal-fundal growth was manifested on the average on the 25th gestational week. Low-profile type biparietal growth retardation was associated with 43% of the IUGR cases, and the brain-sparing effect in growth was found in 29%. Polyhydramnios was a complication in 30% of the series. Premature labor was associated with 60% of the spontaneously initiated deliveries in the series, and was not due to the polyhydramniotic tendency only. Antenatal evaluation of the fetoplacental unit function revealed a normal capacity of 62% of the cases. The fatality of the fetal abnormality was not manifested in any special feature of the complications of the pregnancy. Antenatal etiological evaluation and search for fetal anomalies in all pregnancies complicated by early IUGR, polyhydramnios and imminent premature labor is stressed for the adequate assessment of perinatal care.

Chromosomes, Human, 16-18↗
PubMed1992

Correlation of subjective assessment of amniotic fluid with amniotic fluid index.

We assessed the correlation between abnormal amniotic fluid volumes as defined by the two techniques of (1) subjective evaluation and (2) the amniotic fluid index. Ultrasound evaluation of amniotic fluid volume was conducted on 420 pregnant women with known gestational age greater than twenty weeks but less than 42 weeks. Amniotic fluid was evaluated subjectively and placed into one of three categories: normal, oligohydramnios or polyhydramnios. After fetal biometry was performed, the amniotic fluid volume was assessed semi-quantitatively by the amniotic fluid index technique and assigned to similar categories. We analyzed the data with 2 x 2 contingency tables, using amniotic fluid index as the 'gold standard test'. Our study demonstrates that there was moderate agreement (kappa.5) between both amniotic fluid techniques in the identification of oligohydramnios. However, agreement between the techniques was poor for the identification of polyhydramnios (kappa.16).

Amniotic Fluid↗
PubMed1993

Reversal of diabetic related accelerated fetal growth by maternal glycaemic control.

In a young woman with insulin-dependent diabetes mellitus, poor diabetic control during the second trimester of pregnancy resulted in ketoacidosis, accelerated fetal growth and polyhydramnios. With the establishment of tight maternal glycaemic control, both accelerated intrauterine growth and polyhydramnios were reversed and a good pregnancy outcome resulted.

Adult↗
PubMed1995

Aorto-pulmonary calcification: an unusual manifestation of idiopathic calcification of infancy evident antenatally.

BACKGROUND: Idiopathic arterial calcification of infancy represents a clinical spectrum involving calcification of large and medium-sized blood vessels with an unknown etiology. Its complications include severe systemic hypertension and cardiomyopathy. CASE: A twin infant with a variant of idiopathic arterial calcification was diagnosed antenatally by the detection of hyperechogenicity of the proximal aorta and central pulmonary vessels. The calcification was apparently isolated to these vessels and was associated with polyhydramnios and hypertrophic cardiomyopathy. CONCLUSION: Because antenatal diagnosis is possible, we suggest that there should be a high index of suspicion for idiopathic arterial calcification when there is sonographic hyperechogenicity of vessel walls, evidence of polyhydramnios, cardiomyopathy, or a family history of idiopathic arterial calcification.

Adult↗
PubMed2005

Reevaluation of the relationship between amniotic fluid volume and perinatal outcome.

OBJECTIVE: Ultrasound estimation of amniotic fluid volume (AFI) is a critical component of antenatal surveillance. Alterations in AFI have classically been considered an indication of fetal compromise, but recent studies have called this into question. The present study was undertaken to reevaluate the relationship between AFI and perinatal outcome. STUDY DESIGN: The perinatal data base of the authors' institution was queried for all patients in a 6-year period who had AFI evaluated. Two groups, 1 high-risk and 1 low-risk, were evaluated to determine the relationship between AFI and gestational age. An additional high-risk group that had AFI determined within 48 hours of delivery was also used to correlate AFI with intrapartum and perinatal outcomes. Statistical analysis was performed using linear regression analysis to evaluate the correlation between AFI and gestational age or birth weight. Additional correlations were done using analysis of variance, chi-square, Fisher exact test, or Student t test. Interaction between variables was analyses using logistic regression analysis. RESULTS: Fourteen thousand seven hundred forty-seven AFI determinations in 4337 high-risk patients, and 1153 AFI determinations in 1153 low-risk patients were evaluated. There were no clinically significant correlations between AFI and gestational age. In the second high-risk group of 454 patients there was a significant correlation between polyhydramnios and large-for-gestational age infants, congenital anomalies, and an increase in cesarean section for delivery. There was an increased risk of nonreassuring fetal heart rate patterns during labor for the oligohydramnios patient, but only in preterm patients. There was no strong relationship between AFI and neonatal complications or length of stay in the neonatal intensive care unit. Logistic regression confirmed that AFI was not significantly correlated with perinatal outcome. CONCLUSION: The present study suggests that AFI is a weaker predictor of perinatal outcome than has been classically suggested. Although the AFI identification of polyhydramnios was helpful in identifying LGA fetuses and fetuses at risk for congenital abnormalities, oligohydramnios was a rather weak predictor of poor perinatal outcome.

Abnormalities, Multiple↗
PubMed2005

Pulmonary stabilisation followed by delayed surgery results in favourable outcome in congenital cystic lung lesions with pulmonary hypertension.

OBJECTIVE: Congenital cystic lung lesions associated with fetal hydrops and polyhydramnios are rare, and reported to have greater than 50% mortality, can this be reversed? To propose a period of pulmonary stabilisation and delayed surgery for neonates with congenital cystic lung lesions and pulmonary hypertension. RESULTS: Four neonates with antenatal diagnosed congenital cystic lung lesions with associated fetal hydrops and maternal polyhydramnios, presented with pulmonary hypertension due to lung hypoplasia. Contrast spiral computerised tomography scan was diagnostic. Three had congenital cystic adenomatoid malformation and one extra-lobar pulmonary sequestration with anomalous blood supply from the abdominal aorta. All four were pre-operatively ventilated for 9.8+/-0.9 days on conventional mechanical ventilators. Definitive surgery was performed at 10.8+/-0.8 days following stabilisation of lung function (preductal PO(2) of greater than 60torr with a SaO(2) of 90-100%) and resolution of pulmonary hypertension with absence of persistent fetal circulation on echocardiography. Optimal timing of delayed surgery was in the range of 216-360h. All four are thriving with absent respiratory complications. CONCLUSION: Delayed surgery following pulmonary stabilisation results in favourable outcome.

Cystic Adenomatoid Malformation of Lung, Congenita↗
PubMed1992

Do semiquantitative amniotic fluid indexes reflect actual volume?

OBJECTIVE: Our objective was to determine how well semiquantitative ultrasonographic measures of amniotic fluid, i.e., maximal amniotic fluid vertical pocket and amniotic fluid index, reflect actual amniotic fluid volumes in 50 near-term patients whose amniotic fluid volume estimates were normal by visual inspection. STUDY DESIGN: Before amniocentesis for fetal lung maturity, each patient had visual amniotic fluid volume estimates, maximal amniotic fluid vertical pocket, and amniotic fluid index performed by the same examiner, and then each received intraamniotic injection of a 10% paraaminohippurate solution. Amniotic fluid volume was quantitated by spectrophotometric assay of paraaminohippurate concentration. Oligohydramnios and polyhydramnios were defined as < 300 and > 2000 ml, respectively. RESULTS: Quantitative amniotic fluid volume was positively related to both amniotic fluid index and maximal amniotic fluid vertical pocket (r = 0.75 and 0.60, respectively). True-positive rates for oligohydramnios (amniotic fluid index < 5 cm or maximal amniotic fluid vertical pocket < 2 cm) were 100% and 0%, respectively; false-positive rates with either method were 0%. True-positive rates for polyhydramnios (amniotic fluid index > 20 cm and maximal amniotic fluid vertical pocket > 8 cm) were 0%; false-positive rates were 16% and 24%, respectively. CONCLUSIONS: Amniotic fluid index appears to be slightly better than maximal amniotic fluid vertical pocket for reflecting actual amniotic fluid volume. Both indirect methods tend to overestimate actual amniotic fluid volume at the upper end of its extremes.

Amniotic Fluid↗