low ue3

my wife is having a rough pregnancy. she has gone from spotting to low progesterone to a negative but high risk (for a 26 year old) for T18 and downs syndrome. she got through everything and now is being told she has low ue3. we can't get an appointment (or a call back) from the genetics department and she is freaking out. everything we can find on low ue3 is t18 or downs and the doctor who read the ultra sound said we are clear of those 2 disorders. would neuro disorders have been seen on a level 2 ultra sound? the doctor said it was not spinabifida. we scheduled an amnio for tomorrow but we have no answers and don't know what we may be hit with. please advise  

[Jordanna Joaquina, MS, CGC]

It can be extremely difficult to enjoy a pregnancy when there is so much happening. Without knowing the specific values, it is difficult to know how low the uE3 value is and what are the other protein values in comparison.

In general, low unconjugated estriol (uE3) is associated with Down syndrome and Smith-Lemli-Opitz syndrome, a genetic condition of cholesterol metabolism that affects various parts of the body. Very low uE3 is also associated with X-linked placental steroid sulfatase deficiency, a condition that affects males and is characterized by ichthyosis (a skin disorder which causes dry, fish-like scales on the skin surface). Low uE3 can also be associated with other unknown problems.

You mentioned having an amniocentesis tomorrow.  Amniocentesis can provide you with information about whether the pregnancy has any chromosome problems (such as Trisomy 18 or Down syndrome). Additional testing, such as testing for Smith-Lemli-Optiz syndrome and X-linked placental steroid sulfatase deficiency, can also be ordered if indicated. Level II ultrasound can diagnosis some fetal  malformations but  fetal ultrasound cannot diagnosis  all chromosome abnormalities, all neurological disorders (including mental retardation) or possible fetal abnormalities or birth defects.

You and your wife may have an appointment with a genetic counselor before your amniocentesis. We recommend that you meet with a genetic counselor who can provide a more accurate risk assessment as well as to discuss the risks, benefits and limitations of amniocentesis and all of your appropriate testing options. You can locate a genetic counselor through the National Society of Genetic Counselors website or through companies like mine, AccessDNA.