Wedding vows and rings exchanged, parenthood is a significant milestone; and planning a pregnancy is an exciting time for couples eager for a visit from the stork. While it might seem pointless to start worrying about pregnancy-related issues before pregnancy, studies demonstrate that proactive couples who seek medical care before conceiving can increase their chances of achieving pregnancy and can reduce their risks of miscarriage and birth defects. The best time to discuss potential risk factors that could affect your pregnancy is before pregnancy and a preconception genetic counseling appointment can be an empowering first step in planning the journey into parenthood. In addition to good nutrition, exercise, avoiding alcohol and smoking, and overall good health, here are 8 things every couple should consider while planning a pregnancy.
Folic acid supplementation
Folic acid, also known as Vitamin B9, is present in green leafy vegetables and plays a key role in the normal development of DNA. Folic acid supplementation is one of the most important things a woman can do prior to conceiving to prevent serious birth defects involving brain and spinal cord. In fact, women who get 0.4 mg folic acid supplementation before conception and during the first trimester reduce the risk for their baby to be born with such serious birth defects by up to 70%. This dose may be increased in the presence of family history or a previous pregnancy with such a condition. An appointment with a genetic counselor will help make an assessment family history to lay out an appropriate plan of action.
Pregnancy lowers a woman’s immunity to allow for growth of the baby that’s considered “foreign”! This leaves women vulnerable to getting sick from infections that not only pose a health risk to themselves, but could also be associated with preterm birth, low birth weight, miscarriage or birth defects in the developing baby. Pre-pregnancy is the perfect time to ensure your vaccinations/immunity for chicken pox, MMR, DPT, Hepatitis A/B, etc. are up to date. It is also worth ensuring that those who will take care of or spend a lot of time with your baby also are up to date with their DPT vaccines as pertusis (the ‘P’ of DPT, also known as ‘whooping cough’) is highly contagious and statistics show that most babies get whooping cough from an affected person in the family.
It is important to get screened for infections like toxoplasmosis, parovirus B9, herpes, HIV and other STDs before pregnancy as some of these are considered teratogens. A teratogen is a substance or a factor that causes birth defects by interfering with normal fetal development. Blood tests and a pap smear can help detect these, and your doctor can lay out plans for timely treatment and management.
It is extremely important for women with an existing medical condition such as diabetes, thyroid disorders, high blood pressure, etc. to seek preconception advice. This is important not only for maternal health, but we know that high blood sugar and low thyroid levels at the earliest stage of pregnancy -oftentimes much before most women realize they are pregnant- can have detrimental effects on normal fetal development. In fact, hypothyroidism (Iow levels of maternal thyroid) is a preventable cause of mental retardation and warrants screening and treatment prior to conceiving.
Some medications can pose harm to a developing baby. Commonly used medicines in the treatment of conditions like epilepsy and high blood pressure can be teratogenic or associated with adverse pregnancy outcomes. While planning a pregnancy, women must discuss all medications they are on with their doctor or genetic counselor to discuss the possible effects during pregnancy.
Chromosomes are packages of DNA that get passed on to the next generation. While most people have 23 pairs of normal chromosomes, some might have differences in the way their chromosomes are arranged. Adults who carry such a rearrangement, also known as a translocation, are healthy and have a normal lifespan. The vast majority never know of their unusual chromosome rearrangement. In fact, a translocation can be passed down in the family through several generations without anyone discovering it, only to be brought to light after repeated miscarriages or after a baby is born with a chromosome disorder. Both men and women can be carriers of translocations and can be identified by a test called a ‘karyotype’ that visualizes chromosomes to look for such rearrangements.
Routine Carrier Screening
The American Congress of Obstetrics and Gynecologists recommends that all couples considering pregnancy should be offered genetic carrier screening. Every individual is a carrier of about 1-2 mutations that can cause severe genetic disorders. Like translocation carriers, carriers of genetic conditions are healthy and do not typically have family history of disease. While carrier screening can be done during pregnancy as well, the ideal time to do this is before conceiving. Preconception carrier screening gives couples the opportunity to plan ahead of time and make informed decisions during pregnancy. If both partners are found to be carriers of the same genetic condition, they have a 1 in 4 chance of having a baby with that genetic condition, and a genetic counseling appointment can help the couple understand their reproductive options. These can include preimplantation genetic diagnosis (PGD) to help prevent a pregnancy from inheriting the condition, chorionic villus sampling (CVS) or amniocentesis during pregnancy to test for the specific condition, donor gametes (egg or sperm), and adoption.
Preconception Genetic Counseling
A genetic counseling appointment while planning a pregnancy entails an in depth review of a couple’s medical history and family history (on both sides of the family). A genetic counselor will interpret this information and provide a personalized assessment of relevant risk factors. Depending on the genetic assessment, available testing options and possible preventative measures will be discussed. Genetic counselors are experts in medical genetics and psychological counseling, and provide critical information and emotional support through your journey to welcoming a little one into your arms. If you would like get in touch with a genetic counselor you can give us a call at 1800-102-4595 or drop us a mail at firstname.lastname@example.org
About the Author
Pooja Ramchandran is a pioneer in the field of genetic counseling in India. She has been practicing clinical genetic counseling in India since graduating from Johns Hopkins University in 2008. She is a much sought after expert in a niche profession and, being the first genetic counselor in the country with a formal degree in genetic counseling, she is committed to establishing the genetic counseling profession in India.
Ramchandran’s industry affiliations have included Eastern Biotech and Life Sciences in Dubai; Nutragene, Positive Bioscience, and Mapmygenome in India. She had also consulted as a clinical Genetic Counselor at hospitals including Lilavati, Hinduja Healthcare, in Mumbai. Ramchandran takes great pride in her association with Cancer Patients Aid Association (CPAA), a non-profit organization where she is involved as a cancer genetics educator and volunteers her time and expertise as a cancer genetics consultant. She is often invited as an expert faculty to speak on medical genetics and genetic counseling at international and national conferences as well as workshops and patient advocacy groups.