EP06.08: Antenatal diagnosis of MPPH‐1‐syndrome: a case report of the rare genetic condition with sonographic detection of fetal megalencephaly | Zendy

Beyer J. | Zendy; Fröber R. | Zendy; Schreyer I. | Zendy; Weise A. | Zendy; Schleussner E. | Zendy; Schneider U. | Zendy

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EP06.08: Antenatal diagnosis of MPPH‐1‐syndrome: a case report of the rare genetic condition with sonographic detection of fetal megalencephaly

Author(s) -

Beyer J.,

Fröber R.,

Schreyer I.,

Weise A.,

Schleussner E.,

Schneider U.

Publication year - 2019

Publication title -

ultrasound in obstetrics and gynecology

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 3.202

H-Index - 141

eISSN - 1469-0705

pISSN - 0960-7692

DOI - 10.1002/uog.21208

Subject(s) - medicine , megalencephaly , polymicrogyria , ventriculomegaly , pediatrics , polydactyly , frontal bossing , hemimegalencephaly , prenatal diagnosis , genetic disorder , epilepsy , obstetrics , fetus , pregnancy , pathology , anatomy , cortical dysplasia , psychiatry , disease , biology , genetics

Case report We present the case of a 24 year old, second gravida. At special ultrasound scan in 21/4 w.o.g. we found multiple abnormalities of the head (fig. 1). Via amniocentesis we identified a normal caryotype, 46 XY. Through next generation sequencing the genetic diagnosis of a MPPH-1-syndrome could be confirmed as a pathogenic change in the PIK3R2-gen. After a difficult counseling of the parents they continued pregnancy until an unexpected intrauterine fetal death at 34+4 w.o.g.

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