Journal de Gynécologie Obstétrique et Biologie de la Reproduction
Clinical casePrenatal diagnosis and prognosis of triple X syndrome: 47, XXXDiagnostic prénatal et pronostic du syndrome triple X : 47, XXX
Introduction
Triple X syndrome is a sex chromosomal abnormality that involves the presence of three sex chromosomes resulting in 47, XXX karyotype [1]. The numerical abnormality occurs as a result of nondysjunction in meiosis I. Approximately 90% of these cases are of maternal origin and 10% of paternal origin. The frequency of 47, XXX diagnosed by genetic amniocentesis is estimated to be 0,1% of live-born female infants which is approximately equivalent to its incidence in the newborn population [2]. Postnatal diagnosis is difficult because most of these cases have a normal phenotype and do not manifest as structural anomaly. Only a few cases with 47, XXX karyotype have congenital malformations reported in the literature [3]. Prenatal detection of triple X syndrome poses problems in genetic counseling. We report here three cases of triple X syndrome that were diagnosed prenatally and we remind the clinical and evolutionary particularities of this sex chromosome aneuploidy.
Section snippets
Case 1
Chaima, a term female infant was delivered at 38 weeks of gestation to a 40-year-old woman, followed in our neonatal consultation for triple X syndrome prenatally diagnosed with a karyotype by genetic amniocentesis for advanced maternal age. There was no history of consanguinity and had she two other children in good health. The woman was counseled about the prognosis of this condition, and she decided to continue with the pregnancy. The infant was delivered vaginally. Apgar scores were 8 and
Discussion
The first 47, triple X karyotype was described by Jacobs et al. in 1959 as the “super female”, although in most cases these females with an extra X chromosome were identified in hospitals for the mentally subnormal [1]. Female infants with 47, triple X are relatively common, occurring in 0,1% of live born female infants [2]. Most of these infants have a normal phenotype like in our cases 1 and 2. Only a few cases with 47, triple X karyotype have congenital malformations reported in the
Conclusion
We conclude that prenatal diagnosis of 47, triple X underlines the importance of discussing the sex chromosome abnormalities during the genetic counseling after an abnormal triple screen test or ultrasound examination. However, the ultrasound abnormalities leading to discovery of triple X syndrome are extremely rare and this syndrome is often a surprising genetic diagnosis. Health care professionals must therefore be prepared to give expectant parents a developmental prognosis of a fetal
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