New possibilities for the diagnosis and treatment of reproductive and
genetic disorders are becoming available as a result of a series of re
cent technical advances. Intracytoplasmic sperm injection (ICSI) allow
s treatment of numerous infertile men whose sperm cannot penetrate the
egg to initiate fertilization. Molecular genetic testing provides cli
ents of reproductive age with additional information that permits prev
ention of genetic diseases such as fragile X syndrome, the leading cau
se of inherited mental retardation. Preimplantation genetic testing (P
GT) offers couples who carry genetic disorders the prospect of having
children with a greatly decreased risk of initiating a pregnancy invol
ving an affected individual. Flow-cytometric sperm separation offers a
new, effective approach for prevention of X-linked genetic disorders.
Two major causes of recurrent pregnancy loss (RPL) involve recurrent
trisomies and immunological disorders. Of the latter, 70% of studied p
opulations of patients can attain live births with simple treatment pr
otocols. Maternal serum assays involving multiple markers reduce both
false positives and false negatives in detection of trisomies. Despite
these advances in research, many safe and effective methods of diagno
sis and treatment remain under-utilized in the clinical arena.