Conceptions Florida

Blog rss

Need Help Understanding PCS and Genetic Testing? Dr. K Answers Your Questions!

Need Help Understanding PCS and Genetic Testing? Dr. K Answers Your Questions!

by fw-dez admin

By Dr. Sinem Karipcin

Preconception Carrier Screening (PCS): What do you need to know?

Preconception Carrier Screening (PCS) involves testing healthy individuals to determine if one or both of them are carriers of a genetic condition and may risk of transmitting an Autosomal Recessive Disorder such as cystic fibrosis, sickle cell anemia or Tay-Sachs disease. The screening can also identify X- linked Genetic Disorders such as hemophilia to their children. Interestingly, the vast majority of couples who are carriers have no known family history of these disorders.     

What is the ideal time to test your carrier status?

The ideal time is before you conceive. It is best to know your carrier status before you start having a family so you have time to explore all your options and make informed decisions.

Does your partner need to be tested? 

I recommend both partners be tested simultaneously. By testing the DNA of both partners, we can see whether they are carriers of specific genetic diseases. Some conditions such as cystic fibrosis require disease-specific counseling based on the carrier status of the partner.  This is especially important when a couple is interested in starting the fertility treatment as quickly as possible.

Which diseases do you test for?

Most patients choose to be tested for the highest number of conditions available, which is currently 281. The conditions are selected based on very specific guidelines, with a focus on conditions which could be detrimental to the child’s quality of life.

If I am a carrier, does it affect my own health?

Generally, the majority of conditions for which you are being tested do not affect the health of the carrier. Carriers are generally healthy and though they carry the disease, they do not show any signs or symptoms.

What does it mean if we are both carriers for the same condition?

Most of the conditions tested for in the panel are what we call Autosomal Recessive Disorders.  Recessive disorders require both partners to be carriers to pass the condition on to a child. If both partners carry the same recessive disease, then the couple has a 25% chance of giving birth to a child with the disease.

For X-linked disorders, we only test females because males with the disorder present with the disease, so patients would already be aware of the condition. There is a 50% chance a woman can pass an X-linked condition to a male child.

What are your options if you are both carriers of the same disease?

There are a number of options available to a carrier couple to have healthy children. The first step is to schedule an appointment with a genetic counselor and your physician who can provide more information and advice about available options. One option is IVF with preimplantation genetic testing which tests for the mutation in the embryo. Either your insurance or the carrier screening company may cover the cost of the genetic testing of the biopsied embryos. Alternatively, you can pursue to test the fetus early in the pregnancy through amniocentesis. A third option is  going through fertility treatment using donor gametes (sperm or egg).

Our goal is to help you conceive and carry a healthy baby! PCS can be an important tool for us to use. For more information please call our office at 305-446-4673 (HOPE).

Dr. Sinem Karipcin is a Board certified infertility specialist. Dr. Karipcin takes a holistic approach with her patients to help them achieve their goals of having a baby. She practices in Miami (Coral Gables) at Conceptions Florida.


Why Does PCOS Need A Whole Month of Awareness? Interesting Facts and Treatment Options for PCOS

Why Does PCOS Need A Whole Month of Awareness? Interesting Facts and Treatment Options for PCOS

by fw-dez admin

September is Polycystic Ovary Syndrome Awareness Month! 30 days to bring awareness to symptoms and treatments and give hope for those with PCOS.

PCOS is a hormonal, reproductive disorder that affects 1 in 10 million women of childbearing age. The World Health Organizations estimates that 116 million women worldwide are affected by PCOS. The exact cause is multi-factorial with various environmental and genetic factors fostering its development.

The classic signs associated with PCOS include:

  • weight gain
  • acne
  • irregular or non-existent periods
  • excessive hair growth in unwanted places
  • infertility

However, there is more to PCOS. Some interesting facts:

  • Women with PCOS tend to gain weight in the abdominal area specifically. If your abdominal circumference is more than 35 inches (88 cm), it could be a sign you have PCOS.
  • Women with PCOS sometimes develop a dark ring around their neck and creases of the skin, called acanthosis nigricans. This happens as a result of insulin resistance.
  • There may be a male version of PCOS. Hormonal and metabolic abnormalities can sometimes be seen in male family members of women with PCOS. These men tend to be bald before the age of 35. They may also be at higher risk of type II diabetes, heart disease and benign prostate hyperplasia later in life.

Not every woman with PCOS has unwanted hair or irregular periods. So it is important to see a reproductive endocrinologist, aka a fertility specialist, to rule out other causes. There is no one single test for PCOS. Instead, PCOS is diagnosed based on your gynecological history, an ultrasound to count the baseline number of follicles on your ovaries, and a blood test to check your hormones, including AMH, thyroid and pituitary function.

While there is no cure for PCOS, it can be treated.

  • Weight loss with a healthy lifestyle that includes a balanced diet and regular exercise can have a positive effect on the endocrine system, particularly in cases when a woman is overweight or obese.
  • Birth control pulls can be prescribed to correct the hormone imbalance and lower the testosterone, generally improving acne and unwanted hair and regulating your period.
  • Additionally, Metformin, a medication that helps regulate blood sugar is sometimes prescribed in conjunction with birth control pills or on its own for women who are diabetic or pre-diabetic.

If you are planning a family, there is good news! Women with PCOS tend to have a higher ovarian reserve, which means you may have a longer reproductive life and reach menopause later in life. Also, if you were to undergo IVF treatment, you may have a larger number of eggs harvested. As a fertility specialist, I see many women worried about their fertility potential because of a PCOS diagnosis. However, we have many treatment options and if you are not ovulating regularly due to PCOS and are not overweight, most of the time a healthy pregnancy can be achieved easily and inexpensively with an oral ovulation induction medication. Not sure if you have PCOS? Or have you been diagnosed and are having a hard time getting pregnant? Call our office to schedule an appointment.

By Dr. Sinem Karipcin. Dr. Karipcin is a Board certified Reproductive Endocrinology and Infertility Specialist, practicing at Conceptions Florida in Miami.

Ten Ways to Reduce Exposure to Toxins and Increase Your Fertility Now

Ten Ways to Reduce Exposure to Toxins and Increase Your Fertility Now

by fw-dez admin
Dr. Sinem Karipcin

Blame it on our environment. Though we are living longer, the rate of obesity, diabetes, heart disease and cancer are increasing. And it's hard to blame it all on genetics.

We are surrounded by thousands of environmental toxins. The most common are:
  • Pesticides in conventionally farmed produce
  • BPA and its substitutes (BPF, BPS) in hard plastic
  • Phthalates in soft plastic
  • Parabens and benzophenone in sunscreen and personal care products
  • Fire retardants in electronics and furniture
  • Mercury and PCBs in larger predator fishes, including tuna and other frequently eaten fish
  • Radon in the air

There are many factors in fertility, but did you know that these environmental toxins can wreak havoc on your reproductive system as well? What can we do to reduce exposure?

Increasing our awareness is the first step! We need to be mindful of what we eat, drink, apply to our bodies and bring in to our house. And while our focus here is on fertility and increasing the odds of conception, the habits you develop in preparation for having a baby are habits that we should be adopting for a lifetime.

Here are our top ten recommendations:

  • Don't smoke or be around smokers. Especially if you are taking the pill.
  • Use non-toxic cleaning and personal care products. Don't spray bugs. Use baits and traps instead of chemical pesticides.
  • Mop frequently. Mopping gets rid of dust that carries toxic substances like lead, pesticides and flame retardants from furniture and other household items.
  • Take off your shoes or wipe them well on a doormat to avoid bringing toxic chemicals in to your home.
  • Don't dry clean your clothes unless you have no other alternative.
  • Be careful with plastics! Avoid soft plastics made with PVC (like shower curtains and toys) and hard plastics made with BPA or its substitutes. Do not use plastics for hot foods and drinks. Use stainless steel whenever possible.
  • Use VOC free and non-toxic building materials and paints (like we did here at the lab at Conceptions Florida).
  • Reduce your mercury exposure by eliminating contaminated fish from your diet and mercury thermometers from your house.
  • Minimize pesticides and other toxic substances in food and water by choosing organic whenever possible, limiting high mercury fish in your diet, and avoiding fatty and canned foods that contain toxins.
  • Test your home for radon.

Although exposure to toxins isn't wholly avoidable, you can educate yourself on the biggest offenders and take steps to lessen your exposure. And every step you take can increase your chance of conceiving, having a healthy baby and improving your health and longevity.

Ready to take the next steps? Call 305-446-4673 (HOPE).

Dr. Sinem Karipcin is a Board certified infertility specialist and expert in environmental toxins and fertility. Dr. Karipcin takes a holistic approach with her patients to help them achieve their goals of having a baby. She practices in Miami (Coral Gables) at Conceptions Florida.

Welcome to our Blog.

by Rismary Cabrera
Welcome to our blog.