TY - JOUR
T1 - Tetrasomy 18p
T2 - The challenges of noninvasive prenatal testing and combined test
AU - Tolva, Gianluca
AU - Silipigni, Rosamaria
AU - Quarenghi, Aida
AU - Vergani, Patrizia
AU - Guerneri, Silvana
AU - Milani, Donatella
PY - 2019
Y1 - 2019
N2 - Circulating cell-free DNA, having no procedural risk of miscarriage, is the most suitable sample for a noninvasive prenatal testing (NIPT). Here we report on a boy, who came to our attention for hypotonia and psychomotor delay when he was 16 months old. During the pregnancy his mother performed a NIPT that resulted compatible with the presence of trisomy 18. A confirmatory invasive procedure has been proposed, but not performed, because the family preferred to follow a conservative line. A series of ultrasound excluded the presence of any major malformations. Genetic tests, performed after birth, revealed the presence of a tetrasomy 18p with an extra isochromosome 18p. Our report wants to underline the importance of an invasive procedure and consequent cytogenetic analysis in case of NIPT results indicating autosomal trisomies because under it may hide the presence of other structural chromosomal anomalies. These conditions are normally not visible at prenatal ultrasound or using combined test (CT) and the only identifiable not invasive sign could be the results of high risk at NIPT.
AB - Circulating cell-free DNA, having no procedural risk of miscarriage, is the most suitable sample for a noninvasive prenatal testing (NIPT). Here we report on a boy, who came to our attention for hypotonia and psychomotor delay when he was 16 months old. During the pregnancy his mother performed a NIPT that resulted compatible with the presence of trisomy 18. A confirmatory invasive procedure has been proposed, but not performed, because the family preferred to follow a conservative line. A series of ultrasound excluded the presence of any major malformations. Genetic tests, performed after birth, revealed the presence of a tetrasomy 18p with an extra isochromosome 18p. Our report wants to underline the importance of an invasive procedure and consequent cytogenetic analysis in case of NIPT results indicating autosomal trisomies because under it may hide the presence of other structural chromosomal anomalies. These conditions are normally not visible at prenatal ultrasound or using combined test (CT) and the only identifiable not invasive sign could be the results of high risk at NIPT.
KW - isochromosome 18p
KW - noninvasive prenatal testing
KW - prenatal diagnosis
KW - tetrasomy 18p
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U2 - 10.1111/jog.13873
DO - 10.1111/jog.13873
M3 - Article
AN - SCOPUS:85058712838
VL - 45
SP - 705
EP - 708
JO - Journal of Obstetrics and Gynaecology Research
JF - Journal of Obstetrics and Gynaecology Research
SN - 1341-8076
IS - 3
ER -