FOXD1 variants and recurrent miscarriage

Studies have found that women with variations in their FOXD1 gene are ten times more likely to have recurring miscarriages. Recurring miscarriage (RSA) is clinically defined by experiencing at least three pregnancy losses prior to the 20th week of pregnancy. Approximately 1% of couples attempting pregnancy will suffer from RSA. RSA evaluations include evaluating a woman for problems with her uterus, immune system, hormones, blood clotting system, and testing for possible systemic diseases such as infections, diabetes and Celiac disease. Both the woman and her partner must also undergo a chromosome analysis.

FOXD1 variants and recurrent miscarriage

Infertility ultrasound plays a large role in the assessment and management of women who are having difficulty conceiving.

With ultrasound, high frequency sound waves are emitted by a “probe” (more commonly known as a transducer). The sound waves bounce off the organs and tissues in the body and the reflected sound waves are received by the probe and a computer is used to reconstruct the waves into images on the monitor, allowing a physician to “see” structures in the female abdomen and pelvis.

Progesterone Testing For Infertility

Checking progesterone levels is a reliable way to determine whether a woman has ovulated. In most labs, a level above 2.5 ng/mL indicates that ovulation has taken place (though there is little medical data to support the notion that “low” progesterone levels are associated with infertility or miscarriage). However, as progesterone supplementation is an easy and inexpensive therapy, most infertility specialists will “err on the side of caution”.

Chromosome analysis for infertility and miscarriage patients

Some reproductive problems are caused by chromosome abnormalities. Numeric abnormalities include:


Individual extra chromosomes – Two copies of chromosome 21 there are three copies.


Individual missing chromosomes – Two copies of chromosome 21 there is only one copy.


Extra sets of chromosomes – Instead of two copies of every chromosome, there are three copies.

Chromosome structural abnormalities

  • Duplications/Insertions
  • Deletions
  • Translocations
  • Inversions

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