Prenatal diagnosis of tetrasomy 9p

Clinical and molecular delineation of Tetrasomy 9p syndrome: Report of 12 new cases and literature review

“…Fifty‐four cases have been reported in 40 years [Ghymers et al, ; Rutten et al, ; Orye et al, ; Abe et al, ; Wisniewski et al, ; Moedjono et al, ; Cuoco et al, ; Garcia‐Cruz et al, ; Peters et al, ; Balestrazzi et al, ; Shapiro et al, ; Cavalcanti et al, ; Calvieri et al, ; McDowall et al, ; Nakamura et al, ; Papenhausen et al, ; Jalal et al, ; Schaefer et al, ; Melaragno et al, ; Grass et al, ; Andou et al, ; Van Hove et al, ; Park et al, ; Leichtman et al, ; Tonk ; Dutly et al, ; Eggermann et al, ; Stumm et al, ; Dhandha et al, ; Cazorla et al, ; Cazorla Calleja et al, 2003; de et al, 2003; de Azevedo Moreira et al, 2003; Deurloo et al, ; Hengstschlager et al, ; Lloveras et al, ; Tang et al, ; Henriques‐Coelho et al, ; McAuliffe et al, ; Chen et al, ; Ogino et al, ; Tan et al, ; Coman et al, ; di Vera et al, ; Nakamura‐Pereira et al, ; Podolsky et al, ; Shehab et al, ; Chen et al, ; Papoulidis et al, ; Chen et al, ], among which 20 were prenatally diagnosed [McDowall et al, ; Grass et al, ; Van Hove et al, ; Park et al, ; Dutly et al, ; Eggermann et al, ; Dhandha et al, ; Cazorla Calleja et al, ; Deurloo et al, ; Hengstschlager et al, ; Tang et al, ; Chen et al, ; Tan et al, ; Coman et al, <...>…”

Prenatal diagnosis and findings of tetrasomy 9p

“…Ultrasound study diagnostic expertise, on the one hand, and tissue mosaicism of chromosome 9p, on the other hand, might contribute to the variance in sonographic abnormalities detected in fetuses affected with this disorder. Table presents the most common fetal anomalies detected by ultrasound studies and these include: central nervous system anomalies, followed by fetal growth restriction, genital‐urinary, limb, and facial anomalies . These anomalies are common among fetuses with trisomies 13 and 18 as well as other less common chromosome abnormalities.…”

“…Tissue-specific mosaicism is commonly found in patients with tetrasomy 9p. 3,5,6 Some cases that appear non-mosaic on peripheral lymphocyte karyotyping have been found to be mosaic when other tissues have been examined, 7,8,5 emphasizing the importance of examining more than one tissue type in cases where the patient's phenotype is not consistent with full tetrasomy 9p. 9 In peripheral blood, the isochromosome is often found in all, or a very high proportion of cells, whereas in fibroblasts, amniotic fluid and chorionic villi, it is present in a lower proportion of cells, or not at all.…”

“…Table 1 presents the most common fetal anomalies detected by ultrasound studies and these include: central nervous system anomalies, followed by fetal growth restriction, genital-urinary, limb, and facial anomalies. 2,3,5,15,17,[19][20][21][22][23][24][25][26][27][28] These anomalies are common among fetuses with trisomies 13 and 18 as well as other less common chromosome abnormalities. Considering the rarity of tetrasomy 9p, it would be impractical to suspect this condition based on ultrasound study alone.…”

“…Congenital fetal abnormalities diagnosed by ultrasound studies in utero among fetuses with tetrasomy 9p, including the present case (based on references2,3,5,15,17,[19][20][21][22][23][24][25][26][27][28][29] …”