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Expanding the phenotype of Triple X syndrome: A comparison of prenatal versus postnatal diagnosis

American journal of medical genetics. Part A, 2016-11, Vol.170A (11), p.2870-2881 [Peer Reviewed Journal]

2016 Wiley Periodicals, Inc. ;ISSN: 1552-4825 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.37688 ;PMID: 27644018

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Title:
Expanding the phenotype of Triple X syndrome: A comparison of prenatal versus postnatal diagnosis
Author: Wigby, Kristen ; D'Epagnier, Cheryl ; Howell, Susan ; Reicks, Amy ; Wilson, Rebecca ; Cordeiro, Lisa ; Tartaglia, Nicole
Subjects: 47, XXX ; Adolescent ; Adult ; Child ; Child, Preschool ; Chromosomes, Human, X - genetics ; Developmental Disabilities - genetics ; Facies ; Female ; Genetic Association Studies ; Genetic Testing ; Humans ; Infant ; Karyotyping ; Neuroimaging ; Neuropsychological Tests ; Phenotype ; Physical Examination ; Prenatal Diagnosis ; Sex Chromosome Aberrations ; sex chromosome aneuploidy (SCA) ; Sex Chromosome Disorders of Sex Development - diagnosis ; Sex Chromosome Disorders of Sex Development - genetics ; Sex Chromosome Disorders of Sex Development - therapy ; triple X syndrome ; triplo-X ; Trisomy - diagnosis ; Trisomy - genetics ; trisomy X ; XXX ; Young Adult
Is Part Of: American journal of medical genetics. Part A, 2016-11, Vol.170A (11), p.2870-2881
Description: Triple X syndrome (47, XXX) occurs in approximately 1:1,000 female births and has a variable phenotype of physical and psychological features. Prenatal diagnosis rates of 47, XXX are increasing due to non‐invasive prenatal genetic testing. Previous studies suggest that prenatal diagnosed females have better neurodevelopmental outcomes. This cross‐sectional study describes diagnosis, physical features, medical problems, and neurodevelopmental features in a large cohort of females with 47, XXX. Evaluation included review of medical and developmental history, physical exam, cognitive, and adaptive testing. Medical and developmental features were compared between the prenatal and postnatal diagnosis groups using rate calculations and Fisher's exact test. Cognitive and adaptive tests scores were compared using t‐tests. Seventy‐four females age 6 months–24 years (mean 8.3 years) participated. Forty‐four (59.5%) females were in the prenatal diagnosis group. Mean age of postnatal diagnosis was 5.9 years; developmental delay was the most common indication for postnatal genetic testing. Common physical features included hypertelorism, epicanthal folds, clinodactyly, and hypotonia. Medical problems included dental disorders (44.4%), seizure disorders (16.2%), genitourinary malformations (12.2%). The prenatal diagnosis group had higher verbal (P < 0.001), general ability index (P = 0.004), and adaptive functioning scores (P < 0.001). Rates of ADHD (52.2% vs. 45.5%, P = 0.77) and learning disabilities (39.1% vs. 36.3%, P = 1.00) were similar between the two groups. These findings expand on the phenotypic features in females with Triple X syndrome and support that prenatally ascertained females have better cognitive and functional outcomes. However, prenatally diagnosed females are still at risk for neurodevelopmental disorders. Genetic counseling and treatment recommendations are summarized. © 2016 Wiley Periodicals, Inc.
Publisher: United States: Blackwell Publishing Ltd
Language: English
Identifier: ISSN: 1552-4825
EISSN: 1552-4833
DOI: 10.1002/ajmg.a.37688
PMID: 27644018
Source: MEDLINE
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Expanding the phenotype of Triple X syndrome: A comparison of prenatal versus postnatal diagnosis

2016 Wiley Periodicals, Inc. ;ISSN: 1552-4825 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.37688 ;PMID: 27644018

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