Before embarking on the journey of pregnancy, women need to prioritise their health and well-being. Preconception care plays a crucial role in ensuring a healthy pregnancy and optimal outcomes for both mother and baby. Comprehensive preconception testing can help identify underlying health issues, assess potential risks, and address any concerns before conception. Here are some essential tests shared by Dr Shiva Murarka, Senior Scientist-Reproductive Genomics, Neuberg Centre for Genomic Medicine that women should consider before planning for pregnancy:


Preconception Counselling: 


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Before undergoing specific tests, women should schedule a preconception counseling session with their healthcare provider. This discussion allows for a comprehensive evaluation of individual medical history, lifestyle factors, family history, and any previous pregnancy complications. It provides an opportunity to address concerns, discuss reproductive goals, and develop a personalized preconception care plan.


Folic Acid Levels: 


Adequate folic acid intake before conception and during early pregnancy is crucial for preventing neural tube defects and promoting healthy fetal development. Testing folic acid levels can help ensure that women are receiving sufficient supplementation or dietary sources of this essential nutrient.


Preexisting Medical Conditions: 


Women with preexisting medical conditions, such as diabetes, hypertension, thyroid disorders, or autoimmune diseases, should undergo comprehensive evaluation and optimization of their health status before conception. This may involve monitoring blood sugar levels, thyroid function, or medication adjustments to ensure optimal control of chronic conditions during pregnancy.


Screening for Sexually Transmitted Infections (STIs): 


Screening for STIs, including HIV, syphilis, gonorrhea, Treponema, chlamydia, hepatitis B, and others is recommended before pregnancy. Untreated STIs can pose risks to both maternal and fetal health, leading to complications such as preterm birth, low birth weight, or neonatal infection.


Carrier Screening: 


Carrier screening assesses whether an individual carries genetic mutations associated with inheritable conditions. Common conditions screened for include cystic fibrosis, sickle cell disease, thalassemia, Tay-Sachs disease, and spinal muscular atrophy. Testing both partners can help identify if they carry mutations for the same condition, increasing the risk of passing it on to their children. Understanding carrier status enables couples to make informed reproductive choices, such as pursuing in vitro fertilization (IVF) with preimplantation genetic testing or opting for prenatal testing during pregnancy. 


Genetic Carrier Screening: 


Genetic carrier screening assesses the risk of passing on inheritable genetic disorders to offspring. It is particularly relevant for couples with a family history of genetic conditions or individuals from certain ethnic backgrounds with higher carrier frequencies. Screening may include tests for conditions such as cystic fibrosis, sickle cell disease, Tay-Sachs disease, and thalassemia.


Screening for Chromosomal Abnormalities: 


Chromosomal abnormalities, such as Down syndrome (trisomy 21), are among the most common genetic causes of developmental disabilities and birth defects. Non-invasive prenatal screening (NIPS) or cell-free fetal DNA testing can detect chromosomal abnormalities by analyzing fetal DNA in maternal blood. While typically performed during pregnancy, couples may opt for preconception screening to assess the risk of chromosomal abnormalities before conceiving. 


By undergoing these essential tests and engaging in preconception care, women can maximize their chances of a healthy pregnancy and childbirth. Early identification of potential risk factors and proactive management of health issues contribute to a positive pregnancy experience and the birth of a healthy baby. Consulting with a healthcare provider to develop a personalized preconception care plan is a crucial first step for women planning to start a family.