Genetic considerations in the prenatal diagnosis of overgrowth syndromes.
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.
Vora
Neeta
N
Division of Genetics, Department of Pediatrics, Department of Obstetrics, Floating Hospital for Children and Tufts Medical Center, Boston, MA 02111, USA.
Bianchi
Diana W
DW
D000465:Algorithms; D001506:Beckwith-Wiedemann Syndrome / Q000175:diagnosis / Q000235:genetics; D002869:Chromosome Aberrations / Q000196:embryology; D003937:Diagnosis, Differential; D005820:Genetic Testing / Q000379:methods; D006130:Growth Disorders / Q000175:diagnosis* / Q000196:embryology / Q000235:genetics*; D006801:Humans; D011296:Prenatal Diagnosis / Q000379:methods*; D013577:Syndrome