Fetal Macrosomia, Polyhydramnios and Cardiac Anomalies may be Helpful to Predict Poor Outcome in Neonate – Case Report of a Possible Fetal Rasopathy with Sonographic and Neonatal Findings and Genetic Evaluation.

Abstract

This is a case report about very rare findings in 2nd half of pregnancy (after normal 1 trimester scan ) at 18th week of gestation fetal macrosomia was detected unrelated to maternal diabetes, and acceleration fetal growth later on with unusual cardiac abnormalities (fetal cardiomegaly, cardiomyopathy, partial abnormal venous connection ). Progressive features of congestive heart failure with polyhydramnios in a fetus with estimated 5500 g predicted a poor outcome and severe neonatal condition, which was presented and discussed with the parents to be. Casearean section was performed at 33rd weeks of gestation due to maternal dyscomfort, severe legs edema and her tachypnoe. Baby boy was delivered with birth weight of 5050g, Apgar 4 with mutiple tumors. Conservative care was introduced and neonated died on the 3rd day. Differential diagnosis was discussed with special attention to Costello syndrome however without proved by genetic make-up from neonatal blood.

RASopathies: A significant cause of polyhydramnios?

“…RASopathy testing in cases of polyhydramnios only when seen in combination with an increased nuchal translucency 13,18 ; while other studies propose consideration of prenatal testing even in cases of isolated polyhydramnios. 23,24 While only 13.3% of RASopathies cases presented as isolated polyhydramnios, our findings suggest that RASopathy testing should be considered in cases of severe polyhydramnios that presents in the late second trimester/early third trimester even when isolated.…”

Interventricular Septal Thickness as a Diagnostic Marker of Fetal Macrosomia

“…Among the main maternal risk factors are pre-gestational or gestational diabetes and a positive history of macrosomia in previous pregnancies [ 2 , 3 , 4 , 5 ]. As shown in Figure 1 , fetal factors include gender, genetics, and certain medical conditions [ 1 , 6 ]. Moreover, high paternal BMI might also play a role [ 7 ].…”