ABSTRACT
OBJECTIVE: Sex chromosome aneuploidies are frequently detected fortuitously in a prenatal diagnosis. Most cases of 47, XXX and 47, XYY syndromes are diagnosed in this context, and parents are thus faced with an unexpected situation. The objective of the present study was to characterize a French cohort of prenatally diagnosed cases of 47, XXX and 47, XYY and to evaluate the termination of pregnancy (TOP) rate before and after France's implementation of multidisciplinary centres for prenatal diagnosis in 1997. METHODS: This retrospective study identified respectively 291 and 175 cases of prenatally diagnosed 47, XXX and 47, XYY between 1976 and 2012. For each case, the indication, maternal age, karyotype and outcome were recorded. RESULTS: Most diagnoses of the two conditions were fortuitous. The occurrence of 47, XXX was associated with advanced maternal age. The overall TOP rate was higher for 47, XXX (22.9%) than for 47, XYY (14.6%), although this difference was not statistically significant. However, the TOP rates fell significantly after 1997 (from 41.1% to 11.8% for 47, XXX and from 25.8% to 6.7% for 47, XYY). CONCLUSION: The TOP rates after prenatal diagnoses of 47, XXX and 47, XYY fell significantly after 1997, following France's implementation of multidisciplinary centres for prenatal diagnosis. © 2016 John Wiley & Sons, Ltd.
Subject(s)
Abortion, Induced/statistics & numerical data , Abortion, Spontaneous/epidemiology , Pregnancy Outcome/epidemiology , Sex Chromosome Disorders of Sex Development/epidemiology , Sex Chromosome Disorders/epidemiology , XYY Karyotype/epidemiology , Abortion, Induced/trends , Adult , Amniocentesis , Chorionic Villi Sampling , Chromosomes, Human, X , Cohort Studies , Female , Fetal Death , France/epidemiology , Humans , Maternal Age , Pregnancy , Prenatal Diagnosis , Retrospective Studies , Sex Chromosome Aberrations , Sex Chromosome Disorders/diagnosis , Sex Chromosome Disorders/diagnostic imaging , Sex Chromosome Disorders of Sex Development/diagnosis , Sex Chromosome Disorders of Sex Development/diagnostic imaging , Trisomy/diagnosis , XYY Karyotype/diagnosis , XYY Karyotype/diagnostic imagingABSTRACT
BACKGROUND: Triple X syndrome is a relatively common sex chromosomal aneuploidy with an estimated incidence of one in every 1000 female births. There is considerable diversity in phenotypes among patients with triple X syndrome. Triple X syndrome has been shown to have associated abnormalities, with genitourinary malformations being the most consistent. Cystic hygroma (CH) is a lymphatic malformation that occurs because of the lack of development of communication between the lymphatic and the venous systems. CH has an incidence of 1 in every 6000-10,000 live births. CH is associated with a variety of conditions, including chromosomal aneuploidies and fetal malformations. CASE: We report a case of prenatally detected triple X syndrome with axillary CH as an isolated finding. The patient was referred because of a fetal cystic mass at the right axillary region. Amniocentesis revealed 47,XXX karyotype, and no additional abnormalities were detected prenatally or after abortion. CONCLUSION: This is a novel description of axillary CH associated with triple X syndrome.
