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. 2015:2015:935202.
doi: 10.1155/2015/935202. Epub 2015 Jan 29.

A new case of prenatally diagnosed pentasomy x: review of the literature

Linda Maria Azzurra Pirollo  1 , Leila Baghernajad Salehi  2 , Simona Sarta  1 , Marco Cassone  3 , Maria Vittoria Capogna  1 , Emilio Piccione  1 , Giuseppe Novelli  4 , Adalgisa Pietropolli  1
Affiliations

A new case of prenatally diagnosed pentasomy x: review of the literature

Linda Maria Azzurra Pirollo et al. Case Rep Obstet Gynecol. 2015.

Abstract

Pentasomy X is a rare chromosomal abnormality probably due to a nondisjunction during the meiosis. Only four cases prenatally diagnosed were described until now. Our case is the fifth one prenatally diagnosed at 20 weeks of gestational age in a 39-years-old woman. She underwent invasive prenatal diagnosis for her advanced maternal age without any other known risk factor. Amniocentesis performed at 17 weeks showed a female 49, XXXXX karyotype. The ultrasonographic examination revealed nonspecific signs of a mild early fetal growth retardation and no significant increased nuchal fold. The fetal autopsy and the X-ray excluded major malformations. Prenatal diagnosis is often difficult due to the lack of indicative ultrasonographic findings and the rarity of described cases. The influence of the mother's age on the occurrence of penta-X syndrome has not been determined. Considering the lack of correlation between advanced maternal age and increased risk for pentasomy X, as well as the absence of typical echographic signs, evaluation of the inclusion of a noninvasive prenatal test (NIPT) that expands clinical coverage to include the X and Y chromosomes in routine prenatal diagnosis should be considered as well as three-dimensional ultrasound to detect any helpful indicative prognostic signs.

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Figures

Figure 1
Figure 1
Fetal karyotype demonstrating pentasomy X.
Figure 2
Figure 2
Increased nuchal fold in a transverse view (a) and in a longitudinal view (b) of the fetal head. The maximum value obtained was 8.7 mm. Such subcutaneous oedema was not described in the autopsy report.
Figure 3
Figure 3
Fetal biometry: biparietal diameter, frontooccipital diameter, and head circumference (a), humerus and femur length (b), and abdominal circumference (c). The parameters resulted under the 5° pc of the standard for the gestational age (20 weeks of pregnancy).
Figure 4
Figure 4
Fetal autopsy: it confirmed the absence of major malformations.
Figure 5
Figure 5
Distribution of maternal age in the 21 cases reported in literature [–32].
See this image and copyright information in PMC

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