Z Geburtshilfe Neonatol 2023; 227(S 01): e198
DOI: 10.1055/s-0043-1776548
Abstracts
DGPM

Prenatal clues for Prader-Willi syndrome

G. Kirov
1   Diakonie Jung-Stilling Siegen, Klinik für Geburtshilfe und Pränatalmedizin, Perinatalzentrum Level 1, Siegen, Deutschland
,
S. E. Alsat-Krenz
1   Diakonie Jung-Stilling Siegen, Klinik für Geburtshilfe und Pränatalmedizin, Perinatalzentrum Level 1, Siegen, Deutschland
,
F. Dede
1   Diakonie Jung-Stilling Siegen, Klinik für Geburtshilfe und Pränatalmedizin, Perinatalzentrum Level 1, Siegen, Deutschland
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Introduction Prader-Willi syndrome (PWS) is a rare genetic disorder with an incidence of 1:15,000 to 1:30,000. The etiology is heterogeneous. The Causes are various molecular changes in the chromosome region 15q11-q13 (paternal deletion, maternal uniparental disomy, imprinting defect). Most cases are sporadic [3]. Ultrasonography reveals prenatally in the last trimester a polyhydramnion, decreased fetal movements, abnormal fetal positions and abnormal heart rates with or without fetal growth restriction [1] [2]. Muscle hypotonia and drinking weakness/failure to thrive are common in infancy. Hyperphagia, which leads to severe obesity and characteristic facial features are typical in childhood. Genetic testing, which includes methylation analysis, fluorescent in situ hybridization and uniparental disomy testing, can confirm the diagnosis [3].

The case The first presentation of the 24-year-old IIG/IP took place at 32+3 week gestation as an admission with polyhydramnion for further clarification. TORCH serology and 75g oGTT were both none pathologic. The sonography showed a FGR fetus (1743g) with head/abdomen discrepancy, polyhydramnion II grade, normal Doppler and fetal movement. The patient initially was against a chromosomal analysis. We performed a relief puncture (1250 ml) in the 34+3 weeks of gestation by increasing amount of amnionic fluid. The CTG showed reduced fetal movements. The genetic examination in the amniotic fluid revealed a 46, XY male fetus. The labor was induced in the 36+0 weeks of gestation due to the increasing amount of the polyhydramnion and the decreasing fetal movements by FGR fetus. A hypotonic male newborn (weight 2070 g, Apgar: 3/6/6, NA pH 7.11, BE -8.3.) was born spontaneously and was transferred to the children's hospital with adjustment disorders, muscular hypotonia and reduced spontaneous motor functions. Array analysis showed a heterozygous deletion 15q11q13 (Prader-Wílli syndrome).

Discussion PWS is rarely detected prenatally. The combination of polyhydramnion, decreased fetal movements, abnormal fetal positions and abnormal heart rate with or without fetal growth restriction should raise the suspicion. Genetic counseling with subsequent array analysis should be considered as means of diagnostic.



Publication History

Article published online:
15 November 2023

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