Genetic considerations in the prenatal diagnosis of overgrowth syndromes

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.

Polish Gynecological Society Recommendations for Labor Induction

“…family history, male sex, ethnicity), environmental factors (diabetes in the mother, weight gain in the mother, maternal obesity, post-term pregnancy) or genetic disorders (Pallister-Killian syndrome, Beckwith-Wiedemann syndrome, etc.) [19,20]. Two-dimensional ultrasound is commonly used to diagnose macrosomia and LGA.…”

Two Consecutive Pregnancies with Simpson-Golabi-Behmel Syndrome Type 1: Case Report and Review of Published Prenatal Cases

“…Brain anomalies in SGB syndrome, such as ventriculomegaly and other central nervous system malformations, are seen in the prenatal setting in 7 and 5% of the cases, respectively ( Table 1 ). Therefore, in cases of overgrowth and macrocephaly with pathological brain findings in the absence of other congenital anomalies, Sotos syndrome should be considered [Vora and Bianchi, 2009]. In our series with 3 cases of SGB syndrome, 2 cases had corpus callosum dysgenesis and 1 had hypoplastic cerebellum.…”

“…Vora and Bianchi [2009] proposed a diagnostic pathway for these conditions, suggesting that many factors should be considered, starting with pregnancy dating and the possibility of gestational diabetes. However, in terms of genetic syndromes, the following 5 are the most likely: Pallister-Killian, Sotos, Perlman, Beckwith-Wiedemann, and SGB.…”

Anesthetic Management of a Child with Simpson-Golabi-Behmel Syndrome—A Case Report

“…SGBS should be differentiated from other diseases in which overgrowth occurs, such as Beckwith-Wiedemann Syndrome (BWS), Pallister-Killian Syndrome, Sotos Syndrome and Perlman syndrome [8]. SGBS is similar to BWS, which is characterized by umbilical hernia, macroglossia and a large body.…”