Genetic Disorders Expert Forum
signs of edwards syndrome in ultra sound
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Questions in the Genetics Forum are being answered by medical professionals and experts. This forum is for questions and support regarding a person’s predisposition to a variety of medical conditions such as Ashkenazi Jewish Diseases, Bleeding Disorders, Blood Clotting Disorders, Cancer Genetics and Hereditary Cancer Syndromes, Chromosome Abnormalities, Congenital Birth Defects, Cystic Fibrosis, Family History, Fragile X Syndrome, Infertility, Newborn Screening, Rare Genetic Disorders, Prenatal Screening and Testing.

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signs of edwards syndrome in ultra sound

my partner is 23 weeks just found out her blood sceening came back
with the edwards syndrome. she is going tommrow to get a level II
ultra sound what are the signs to look for? what question should we ask at the time of the ultra sound?
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Some common physical abnormalities characteristic of Trisomy 18  include:

- low set ears
- small head (microcephaly) that is abnormally shaped
- small jaw (micrognathia)
- small mouth
- clenched fists with overlapping fingers
- congenital heart defects
- kidney defects and problems
- clubfoot
- underdeveloped fingernails
- undescended testicle (cryptorchidism) in males
- unusual shaped chest (pectus carinatum)

Some of these abnormalities may be seen on a comprehensive ultrasound. However, ultrasound is not diagnostic of genetic disease. In addition, ultrasound cannot detect all birth defects, especially mental disabilities, such as autism and mental retardation.

We recommend that you and your partner meet with a genetic counselor to discuss the benefits and limitations of your partner's screening test, comprehensive ultrasound, as well as your diagnostic testing options (such as amniocentesis). A genetic counselor can be found at the National Society of Genetic Counselors website or through companies like mine, AccessDNA. More information on Trisomy 18 can also be found at AccessDNA.
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