Early ultrasound diagnosis of Neu-Laxova syndrome.

We report the mid-trimester prenatal diagnosis of Neu-Laxova syndrome (NLS) in two at risk families utilizing serial sonographic examinations. Ultrasound and pathologic findings from seven affected pregnancies, the largest case series of NLS to date, are presented. One fetus had anencephaly and incomplete rachischisis, an anomaly that has not been previously reported in association with NLS. Ultrasonographic detection of severe intrauterine growth restriction (IUGR), abnormally postured limbs, microcephaly, and edema allowed prenatal diagnosis of NLS in five of these at risk pregnancies during the mid-trimester. Growth curves derived from serial sonograms reveal abnormalities of all standard biometric measurements. The growth discrepancy was most pronounced in the measurements of the biparietal diameter, which were consistently less than two standard deviations below the mean across all gestational ages. This case series confirms that aberrant growth and anomalies may be detected sufficiently early in gestation to permit prenatal diagnosis of NLS.

Candida chorioamnionitis after serial therapeutic amniocenteses: a possible association.

BACKGROUND: Reduction amniocentesis is used in cases of severe polyhydramnios to decrease maternal discomfort and the risk of preterm labor. In a MEDLINE search (1966 to present, English language, keywords: amniocentesis, chorioamnionitis), no report of Candida chorioamnionitis after serial reduction amniocentesis exists. CASE: A 29-year-old primigravida with a history of four therapeutic amniocenteses for idiopathic polyhydramnios developed preterm labor at 30 and 5/7 weeks' gestation, rupture of membranes, and Candida albicans chorioamnionitis. Despite aggressive therapy with amphotericin B, the neonate succumbed to overwhelming systemic candidiasis. CONCLUSION: Serial amniocentesis may place patients at elevated risk for Candida chorioamnionitis and subsequent preterm delivery. Clinicians should consider early diagnostic amniocentesis in patients in preterm labor with a history of prior amniocentesis, and the routine Gram stain and culture of amniotic fluid.

Sonographic considerations with multiple gestation.

Determination of chorionicity is of paramount importance in risk assessment and management. Best performed in the first trimester, dichorionic placentation can be reliably assumed when the membrane is easily seen, there is a "twin peak" sign, there are clearly separate placentas, and there is discordant fetal gender. In a monochorionic twin pregnancy, there is a single placental mass, the dividing membrane is difficult to visualize until the end of the first trimester, and the membrane inserts onto the placental surface without a peaked appearance. Amniotic fluid volume assessment is important in the management of twin pregnancy. Polyhydramnios-oligohydramnios may be a manifestation of twin-twin transfusion syndrome, although oligohydramnios with normal amniotic fluid volume in the other twin's sac may more likely be a sign of velamentous cord insertion, infection, or chromosomal or structural abnormality. Fetal growth discordance is common in twin pregnancy and is associated with increased perinatal mortality and morbidity. The most sensitive indicator of discordant twin growth is thought to be estimated fetal weight, and an intertwin difference of > or = 20% is considered significant. In the clinical care of a patient with twins, it is reasonably standard to confirm chorionicity with ultrasonography in the first or early second trimester. At about 20 weeks, a level II ultrasound for anatomic survey is indicated. In dichorionic pregnancies, ultrasound examinations are then performed at 26 to 28 weeks and every 3 to 4 weeks thereafter to follow growth and amniotic fluid volume. In monochorionic twins, we generally do an additional ultrasound at about 23 to 24 weeks, because of the risk of twin-twin transfusion syndrome. In the late third trimester, careful attention should also be given to fetal position, to help with delivery planning.