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CHAPTER 40 The Fetal Musculoskeletal System 1409

Other indings may include micrognathia, ventriculomegaly,

myelomeningocele, and cardiac abnormalities.

SUMMARY

he inding of a skeletal dysplasia and the subsequent communication

of the indings are challenging tasks requiring empathy and

support. In some cases, it may not be possible to establish a

speciic diagnosis and counseling will have to be based on

prognosis estimated from ultrasound indings. he implications

should be discussed in simple terms permitting the parents to

make an informed decision about the management of the

pregnancy, the delivery, and postnatal care. his discussion

typically involves a multidisciplinary team who provide the most

up-to-date information to the parents about options, possible

outcomes, and implications for a future pregnancy. he team

will usually involve an imaging specialist, maternal-fetal medicine

experts, medical geneticists, and the neonatology team. Additional

consultation with orthopedic surgeons, palliative treatment groups,

social workers, and supportive organizations may be helpful for

the family. he mode of delivery should be discussed in advance,

especially in conditions associated with fetal macrocrania, in

which vaginal delivery at term may not be possible. Ater delivery

or pregnancy termination, the diagnosis should be conirmed

by radiographic, photographic, and histomorphic analysis. Cell

culture and DNA should be banked and used for further molecular

investigation. he parents should be seen at a later time to discuss

the results and the implications these results may have on their

future reproductive plans.

Acknowledgments

Special thanks to all the staf at Medical Imaging and Maternal

Fetal Medicine Departments at Sunnybrook Health Science Center

and the Mount Sinai Hospital in Toronto who have provided

many wonderful images and generously shared their knowledge

and work.

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