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Genetic considerations in the prenatal diagnosis of overgrowth syndromes
- Source :
- Prenatal Diagnosis. 29:923-929
- Publication Year :
- 2009
- Publisher :
- Wiley, 2009.
-
Abstract
- Large (>90%) for gestational age (LGA) fetuses are usually identified incidentally. Detection of the LGA fetus should first prompt the provider to rule out incorrect dates and maternal diabetes. Once this is done, consideration should be given to certain overgrowth syndromes, especially if anomalies are present. The overgrowth syndromes have significant clinical and molecular overlap, and are associated with developmental delay, tumors, and other anomalies. Although genetic causes of overgrowth are considered postnatally, they are infrequently diagnosed prenatally. Here, we review prenatal sonographic findings in fetal overgrowth syndromes, including Pallister-Killian, Beckwith-Wiedemann, Sotos, Perlman, and Simpson-Golabi-Behmel. We also discuss prenatal diagnosis options and recurrence risks.
- Subjects :
- medicine.medical_specialty
Pediatrics
medicine.diagnostic_test
Sotos syndrome
business.industry
Beckwith–Wiedemann syndrome
Obstetrics and Gynecology
Gestational age
Prenatal diagnosis
medicine.disease
Endocrinology
Internal medicine
Overgrowth syndrome
medicine
Differential diagnosis
business
Genetics (clinical)
Genetic testing
Weaver syndrome
Subjects
Details
- ISSN :
- 01973851
- Volume :
- 29
- Database :
- OpenAIRE
- Journal :
- Prenatal Diagnosis
- Accession number :
- edsair.doi...........e83042bc783330ce744fdc2decf5cf2a