GENETIC DISORDERS

HUMAN GENETICS IN PREGNANCY

A   37-year-old G5  P0  Ab4 comes   for prenatal    care    at  7   weeks'  gestation.  She

has experienced four    previous    spontaneous first-trimester abortions.  She is

concerned   about   the likelihood  of  her next    pregnancy   being   successful.

Indicators for genetic counseling during pregnancy include the following:

Advanced    maternal    age:    women   age ≥35 at  increased   risk    of  fetal

nondisjunction  trisomies   (e.g.,  trisomies   21  and 18)

Incidence   of chromosomal  abnormalities   by  maternal    age:    the greater the

age,    the greater the risk

Multiple    fetal   losses

Previous    child:  neonatal    death,  intellectual    disability, aneuploidy, known

genetic disorder

Pregnancy   or  fetal   losses: stillborn   with    birth   defect, multiple    pregnancy,  or

fetal   losses

Family  history:    genetic diseases,   birth   defects,    intellectual    disability,

Abnormal    prenatal    tests:  triple  marker  screen, sonogram

Parental    aneuploidy