Trisomy 13 (Patau Syndrome)

A trisomy is a type of aneuploidy (chromosomal abnormality) in which the cells of the body contain an extra copy of a chromosome. While most aneuploidies result in miscarriage, fetal development can progress to live birth in the case of trisomy 21 (Down syndrome), trisomy 18 (Edwards syndrome), trisomy 13 (Patau syndrome), and a few other, less common chromosomal abnormalities. Of the three most common trisomies, Patau syndrome is the rarest; it also has the most severe clinical presentation.

Preimplantation Genetic Screening (PGS):

Why You Should Do It

Many factors can sabotage the success of infertility treatments, such as in vitro fertilization (IVF). A woman might respond poorly to ovarian stimulation, develop eggs that fail to fertilize, or produce embryos that are chromosomally abnormal. Her uterine lining might not be thick enough to support implantation, or there might be some other cause of failed implantation, such as damage to oocyte/embryo during unfreezing or transfer. The egg retrieval and embryo transfer procedure too can fail—sometimes due to the doctor’s lack of experience but more often due to uterine contractility. Of all of these factors, however, chromosomal abnormality is the one that controls the success of the majority of cases.

Lessons Learned After Four IUIs

Within the span of one year, I underwent four intrauterine inseminations (IUIs) in an attempt to become pregnant. The reproductive endocrinologist who treated me had all the right credentials, plus a high success rate in making many couples happy. More importantly, my uterus appeared healthy, and so did my ovaries. The only thing I had going against me was my age. I was in my late 30s, and the quality of my eggs proved to be the one unknown that made all the difference.

Care to Compare?

I have been trying to conceive since I was 30 years old. Eight years had quickly rolled by with no result before I finally decided to consult a reproductive endocrinologist and seek alternative methods. In the span of a year, I underwent four intrauterine insemination (IUI) procedures. Two resulted in pregnancy, neither of which lasted. I am now in the process of attempting my first in vitro fertilization (IVF).