Noam Lazebnik

Insights into the pathogenesis and natural history of fetuses with multicystic dysplastic kidney disease

To better delineate the natural history of multicystic displastic kidney disease (MCDKD) and provide insights into the pathogenesis of this condition, we report our experience in 102 prenatally detected cases. MCDKD is most commonly an incidental finding on prenatal ultrasound examination. The abnormality may be unilateral (76 per cent) or bilateral (24 per cent). In unilateral cases, abnormality of the contralateral kidney is common (33 per cent). Associated non‐renal abnormalities occur frequently with both unilateral (26 per cent) and bilateral (67 per cent) MCDKD, and increase the risk for an abnormal chromosome study. Males are more likely to be affected than females with a ratio of 2.4:1, but females are twice as likely to have bilateral MCDKD and associated non‐renal abnormalities, and four times more likely to have an abnormal chromosome study. We suggest that the option of chromosomal analysis should be discussed with all patients diagnosed with MCDKD in their fetus, if there is bilateral renal involvement or if an associated non‐renal abnormality is present. Unilateral MCDKD without associated renal or non‐renal abnormalities was not associated with an abnormal chromosome study, and resulted in favourable outcomes. While unilateral MCDKD, lack of associated anomalies, normal chromosome study and adequate amniotic fluid are all reassuring findings, a complete neonatal urologic work‐up should be performed in all newborns. We believe the evaluation should include voiding cystourethrography to rule out vesicoureteral reflux. Our findings allow more precise counselling of patients regarding prognosis, and subsequent management of the fetus found to have MCDKD. Copyright

The severity of polyhydramnios, estimated fetal weight and preterm delivery are independent risk factors for the presence of Congenital malformations

Objective: To evaluate maternal and fetal factors associated with congenital malformations in patients with polyhydramnios. Study Design: The study group consisted of 275 singleton pregnancies with an amniotic fluid index (AFI) >25.0 cm. An equal number of controls were matched for maternal age, gravidity, parity and gestational age. The proportion of cases and controls with malformations was compared. Polyhydramnios cases were categorized into three groups by severity: mild (AFI 25–30 cm), moderate (AFI: 30.1–35.0 cm) and severe (AFI >35.1 cm). Among cases, logistic regression analysis was utilized to estimate the risk for fetal congenital malformations in relation to severity of polyhydramnios, estimated fetal weight, maternal diabetic status and gestational age at delivery. Results: Congenital malformations were detected in 40 of 275 cases (14.5%) with polyhydramnios and in 9 cases (3.3%) of the control group (p < 0.01). The relative risks of congenital malformations increased with the severity of polyhydramnios: 3.2 (95% CI 1.5–6.8), 5.7 (95% CI 2.4–13.3) and 13.1 (95% CI 5.8–29.5) for mild, moderate and severe polyhydramnios, respectively. Congenital malformations among polyhydramnios cases were present in 54.5% of small-for-gestational age fetuses, in contrast to 12.7% for average-for-gestational age fetuses and 10.8% for large-for-gestational age fetuses (p < 0.001). Maternal diabetic status did not significantly affect the fetal anomaly rate once polyhydramnios was detected. Premature newborns in the polyhydramnios group had a higher malformation rate (24%) than did term newborns (11.3%) (p < 0.02). In the study group, multiple logistic analysis confirmed the significance of severe polyhydramnios, small-for-gestational age status and preterm delivery as independent contributors to the malformation risk. Conclusions: Polyhydramnios (AFI >35 cm), small-for-gestational age fetus and preterm delivery are independent risk factors for congenital malformations.

The Floating Harbor syndrome with cardiac septal defect

The Floating Harbor syndrome of short stature, very delayed bone age, expressive language delay, and characteristic facial changes has not been associated with cardiac anomalies, except for one patient with pulmonic stenosis. We report on a 10-year-old boy with the syndrome and tetralogy of Fallot with atrial septal defect.

Severity of polyhydramnios does not affect the prevalence of large-for-gestational-age newborn infants.

The purpose of this study was to evaluate the relationship between the severity of polyhydramnios with or without maternal diabetes and the prevalence of large‐for‐gestational‐age newborn infants. A case control design was used. The study group consisted of 275 singleton pregnancies with an amniotic fluid index > or = 25.0 cm. An equal number of controls was matched for maternal age, gravidity, parity, and gestational age. Polyhydramnios was categorized into three groups by severity: mild (amniotic fluid index 25 to 30 cm.); moderate (amniotic fluid index, 30.1 to 35.0 cm); and severe (amniotic fluid index > or = 35.1 cm). Among our study group, 72.7%, 19.7%, and 7.6% of cases had mild, moderate, and severe polyhydramnios, respectively. Patients with polyhydramnios had a significantly higher prevalence of large‐for‐gestational‐age neonates (27%) than did controls (10%) (P < 0.001). No correlation was seen between the severity of polyhydramnios and neonatal delivery weight. The prevalence of gestational and class > or = B diabetes mellitus was significantly higher among patients with polyhydramnios (17.7%) than among controls (7%) (P < 0.003). Once polyhydramnios was diagnosed sonographically, however, maternal diabetic status did not affect the prevalence of large‐for‐gestational‐age newborn infants. We conclude that the prevalence of large‐for‐gestational‐age neonates is 2.7 times greater when polyhydramnios is present than when the amniotic fluid volume is normal. Neither the severity of polyhydramnios nor the presence of maternal diabetes mellitus strengthens the relationship between polyhydramnios and large‐for‐gestational‐age newborn infants.

Effect of indomethacin on individual amniotic fluid indices in multiple gestations

To determine the effect of indomethacin on the amniotic fluid index of individual fetuses in multiple gestations, we evaluated seven sets of twins and two sets of triplets in preterm labor (eight cases) or with polyhydramnios (one case). The dose of oral indomethacin was either 25 mg every 12 hours or 25 mg every 6 hours. The amniotic fluid volume of individual amniotic sacs was estimated serially by the amniotic fluid index. When an oral dose of indomethacin of 25 mg every 6 hours was used, oligohydramnios eventually occurred in five of eight amniotic sacs and a subjective decrease in amniotic fluid occurred in one sac. Oligohydramnios was detected in only one of 13 amniotic sacs when the dose of indomethacin was 25 mg every 12 hours. The amniotic fluid volume returned to normal in these seven amniotic sacs within 4 days of discontinuing indomethacin. We conclude that maternal indomethacin therapy has a variable effect on the individual amniotic fluid volumes in multiple gestations.