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Early ultrasound diagnosis of Neu–Laxova syndrome |
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| Authors: | Martha E. Rode Michael T. Mennuti Rose M. Giardine Elaine H. Zackai Deborah A. Driscoll |
| Affiliation: | 1. Division of Maternal–Fetal Medicine, Department of Obstetrics and Gynecology, University of Pennsylvania School of Medicine, Philadelphia, PA, USA;2. Division of Maternal–Fetal Medicine, Department of Obstetrics and Gynecology, University of Pennsylvania School of Medicine, Philadelphia, PA, USA Division of Reproductive Genetics, Department of Obstetrics and Gynecology, University of Pennsylvania School of Medicine, Philadelphia, PA, USA Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, PA, USA;3. Division of Reproductive Genetics, Department of Obstetrics and Gynecology, University of Pennsylvania School of Medicine, Philadelphia, PA, USA;4. Division of Reproductive Genetics, Department of Obstetrics and Gynecology, University of Pennsylvania School of Medicine, Philadelphia, PA, USA Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, PA, USA Division of Human Genetics and Molecular Biology, The Children's Hospital of Philadelphia, Philadelphia, PA, USA |
| Abstract: | 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. Copyright © 2001 John Wiley & Sons, Ltd. |
| Keywords: | Neu–Laxova syndrome prenatal diagnosis ultrasound anencephaly |