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

Maria Respondek-Liberska; Jerzy Węgrzynowski; Przemysław Oszukowski; Ewa Gulczyńska; Elżbieta Nykiel; Lucjusz Jakubowski; Mariusz Grzesiak; Ewa Czichos; Hanna Romanowicz

eISSN: 2449-6731
ISSN: 2449-6723

Prenatal Cardiology

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abstract:

Case report

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

Maria Respondek-Liberska

^{1, 2}

,

Jerzy Węgrzynowski

³

,

Przemysław Oszukowski

⁴

,

Ewa Gulczyńska

⁵

,

Elżbieta Nykiel

⁶

,

Lucjusz Jakubowski

⁶

,

Mariusz Grzesiak

⁷

,

Ewa Czichos

⁸

,

Hanna Romanowicz

⁸

Department of Diagnoses and Prevention Fetal Malformations, Medical University of Lodz, Poland
Department of Prenatal Cardiology, Polish Mother’s Memorial Hospital Research Institute, Lodz, Poland
Szczecin Zdroje Hospital
Ginecology & Perinatology Clinic, Polish Mother's Memorial Hospital Research Institute , Lodz, Poland
Neonatology Clinic, Polish Mother's Memorial Hospital Research Institute, Lodz, Poland
Genetics Department, Polish Mother’s Memorial Hospital Research Institute, Lodz, Poland
Obstetrics and Gynecology Clinic, Polish Mother’s Memorial Hospital Research Institute, Lodz, Poland
Clinical Pathomorphology Department, Polish Mother’s Memorial Hospital Research Institute, Lodz, Poland

Prenat Cardio 2017 Jan; 7(1):73-82

Online publish date: 2019/07/16

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AMA

Respondek-Liberska M, Węgrzynowski J, Oszukowski P, et al. 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. Prenatal Cardiology. 2017;(1):73-82.

APA

Respondek-Liberska, M., Węgrzynowski, J., Oszukowski, P., Gulczyńska, E., Nykiel, E.,  & Jakubowski, L. et al. (2017). 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. Prenatal Cardiology, (1), 73-82.

Chicago

Respondek-Liberska, Maria, Jerzy Węgrzynowski, Przemysław Oszukowski, Ewa Gulczyńska, Elżbieta Nykiel, Lucjusz Jakubowski,  and Mariusz Grzesiak et al. 2017. "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". Prenatal Cardiology  (1): 73-82.

Harvard

Respondek-Liberska, M., Węgrzynowski, J., Oszukowski, P., Gulczyńska, E., Nykiel, E., Jakubowski, L., Grzesiak, M., Czichos, E.,  and Romanowicz, H. (2017). 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. Prenatal Cardiology, (1), pp.73-82.

MLA

Respondek-Liberska, Maria et al. "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." Prenatal Cardiology, no. 1, 2017, pp. 73-82.

Vancouver

Respondek-Liberska M, Węgrzynowski J, Oszukowski P, Gulczyńska E, Nykiel E, Jakubowski L et al. 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. Prenatal Cardiology. 2017;(1):73-82.

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.

keywords:

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

Maria Respondek-Liberska 1, 2 , Jerzy Węgrzynowski 3 , Przemysław Oszukowski 4 , Ewa Gulczyńska 5 , Elżbieta Nykiel 6 , Lucjusz Jakubowski 6 , Mariusz Grzesiak 7 , Ewa Czichos 8 , Hanna Romanowicz 8

Costello -like-Syndrome, fetal heart cardiomegaly, superior vena cava dilatation, partial abnormal venous connection, neonatal tumors

Maria Respondek-Liberska

^{1, 2}

,

Jerzy Węgrzynowski

³

,

Przemysław Oszukowski

⁴

,

Ewa Gulczyńska

⁵

,

Elżbieta Nykiel

⁶

,

Lucjusz Jakubowski

⁶

,

Mariusz Grzesiak

⁷

,

Ewa Czichos

⁸

,

Hanna Romanowicz

⁸