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Dr. Andrew Rynne
MD
Dr. Andrew Rynne

Family Physician

Exp 50 years

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What Other Problems Can A Trisomy 22 Baby Have?

hi i am currently 26 weeks pregnant and i found out at 22 weeks that my baby has trisomy 22. so far we know he has a heart defect, small kidneys but fuctioning, and fluid in his abdomen, and he is behind in growth by two weeks, can u tell me what more should i expect?
Mon, 8 Aug 2016
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Pediatrician,  's  Response
consulted with genetic expert doctor.
first to confirm the diagnosis with FISH analysis using the probes MD DGCR (specific for 22q11.2) and SHANK3 (specific for 22q13) (Kreatech Diagnostics, Poseidon DNA Probes). To rule out possible additional genomic rearrangements, array CGH analysis is done.it is also t differentiate between mosaic and non mosaic form of trisomy 22 because latter one had bad prognosis.


though trisomy 22 had some features include face anamolies like midface hypoplasia with flat/broad nasal bridge, dysplastic ears with pits, tags,, cleft palate, hypertelorism, microcephaly/cranial abnormalities, congenital heart disease, genital abnormalities, small kidneyand IUGR(growth retardation) but periodical monitoring with imaging study like echo,mri and usg may help to diagnose it early .


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What Other Problems Can A Trisomy 22 Baby Have?

consulted with genetic expert doctor. first to confirm the diagnosis with FISH analysis using the probes MD DGCR (specific for 22q11.2) and SHANK3 (specific for 22q13) (Kreatech Diagnostics, Poseidon DNA Probes). To rule out possible additional genomic rearrangements, array CGH analysis is done.it is also t differentiate between mosaic and non mosaic form of trisomy 22 because latter one had bad prognosis. though trisomy 22 had some features include face anamolies like midface hypoplasia with flat/broad nasal bridge, dysplastic ears with pits, tags,, cleft palate, hypertelorism, microcephaly/cranial abnormalities, congenital heart disease, genital abnormalities, small kidneyand IUGR(growth retardation) but periodical monitoring with imaging study like echo,mri and usg may help to diagnose it early .