07 March, 2020

Know all about Genetic Testing before and during Pregnancy

Know all about Genetic Testing before and during Pregnancy. Genetic testing or Carrier Screening is a blood test conducted in perspective or expecting parents to look for abnormal genes that can lead to certain genetic diseases in their baby. These are known as “recessive disorders”, which means that it can only be caused when each parents passes along an affected gene to the baby. Even if both you and your partner screen positive during this test, there is only a 25 percent chance of your baby inheriting the disease.

GENETIC TESTING BEFORE AND DURING PREGNANCY

Usually, doctors recommend genetic testing before you start trying to get pregnant. But in cases of unplanned pregnancies, couples can get screened early on after getting pregnant. Screening before you try to get pregnant can let you know if you or your partner is a carrier and can help you make an informed decision. If both of you are carriers, you can try and read up on what it means to have a baby with genetic conditions. You can also consider other options like egg or sperm donation, or adoption.

Testing during pregnancy can help you and your doctor decide on the prenatal tests necessary for you and your baby, and what to look for, if you choose to have them. For example, if your baby is at an increased risk for having cystic fibrosis or sickle cell disease, your doctor can look for those conditions specifically through either a CVS or amniocentesis.

COMMON GENETIC DISEASES

  • Cystic Fibrosis is a life-threating condition that can cause lung damage and digestive problems. Mostly Caucasians or people of Northern European descent are affected by it. About 30,000 people in the U.S. have this disease.
  • Sickle Cell Disease is common in people of African and Mediterranean backgrounds. It causes a blood disorder that leads to anemia, weakened immune system, and other health complications.
  • Thalassemia is yet another blood disorder common to people of African and Mediterranean descent. It causes anemia, bone growth and liver problems, and in rare cases, babies born with this condition may not survive.

Why Genetic Testing is Beneficial

Genetic testing can help give you an idea of your risk for passing along genes that can result in certain diseases in your baby.

  • If neither of the two of you Is a carrier, your baby will not inherit any genetic condition.
  • If you are a carrier, but your partner is not (or vice-versa), your baby will not inherit the condition.
  • If you and your partner are both carriers, your child has a 25 percent chance of inheriting the condition.

While genetic testing can give you and your partner the chance to take a decision based on your screening result, it’s not foolproof. Some genetic tests such as cystic fibrosis can only identify some of the mutations in the genes that cause the condition. However, genetic testing is highly recommended if you are at risk. Our doctors at KIMS Cuddles may be able to better guide you through the necessary tests.

 

*Information shared here is for general purpose Please take doctors’ advice before taking any decision.

SIMILAR ARTICLES

blog featured image

29 July, 2026

Irregular Periods: When to Investigate

Period irregularity is something many women experience at some point, and most learn to live with it, at least for a while. A late period during a stressful month, a lighter cycle after illness, a missed period after a long flight. These variations are common and usually self-correcting. The problem is that irregular periods are also how the body signals conditions that genuinely need attention, and because the irregularity can feel familiar, it is easy to keep waiting for things to normalise when they never will without proper evaluation.Knowing where the line sits between normal variation and something worth investigating is genuinely useful.What counts as irregularA normal menstrual cycle runs anywhere from 24 to 38 days, measured from the first day of one period to the first day of the next. Variation of up to eight days between the shortest and longest cycle is considered normal. Lengths ranging between 8 and 20 days of variation are considered moderately irregular, and variation of 21 days or more is considered very irregular.Changes outside the cycle length are also irregular. Periods that are either much heavier or lighter than normal, periods that are much longer or shorter than normal, periods between periods, and periods that are absent altogether, in a woman not pregnant, breastfeeding, or in menopause,
blog featured image

29 July, 2026

Fertility Decline: What Women Should Know

Conversations about fertility tend to happen too late. Women often begin thinking seriously about their reproductive timeline only when they are ready to conceive. At this point, some of the most important biological facts have already been playing out for years without their awareness. The decline in female fertility with age is one of the most consistently misunderstood aspects of reproductive health, and the gap between what women know and what the biology actually shows is significant.This is not about creating anxiety. It is about giving women accurate information early enough to make genuinely informed decisions.The Fundamental BiologyA woman is born with all the eggs she is going to have in her lifetime. Her eggs age with her, decreasing in quality and quantity. Age is the single most important factor affecting a woman's fertility.Females are born with a finite number of oocytes. The number of oocytes peaks in the womb at around 20 weeks of gestation and subsequently declines steadily until approximately age 32, after which the number decreases at a greater rate until age 37, beyond which oocyte numbers drop even more rapidly.This is not something that can be slowed by fitness, diet, or general good health. Even though women today are healthier and taking better care of themselves than ever before, improved
blog featured image

29 July, 2026

PMOS: Causes Beyond Hormones

Most patients understand Polycystic Metabolic Ovarian Syndrome, or PMOS, as a hormonal condition. Irregular periods, elevated androgens, and ovarian cysts on an ultrasound. The hormonal picture is real, but it is only part of the story. Decades of research have made it increasingly clear that PMOS is far more complex than a hormonal imbalance in isolation. It involves the metabolic system, the immune system, the gut, and genetics, all interacting in ways that produce a condition that looks different in every woman who has it.Understanding the fuller picture of what causes PMOS matters because it changes how the condition is managed and why lifestyle interventions work as well as they do.What PMOS Actually InvolvesPolycystic Metabolic Ovarian Syndrome is a complex endocrine and metabolic disorder, typically characterised by hirsutism, hyperandrogenism, ovulatory dysfunction, menstrual disorders, and infertility. The name itself reflects what the condition truly is. The metabolic component is not secondary to the ovarian and hormonal picture. It is central to it. Treating the hormonal symptoms without addressing the underlying metabolic drivers is one reason PMOS management often produces only partial results.Insulin Resistance Sits at the CentrePMOS insulin resistance, where cells throughout the body fail to respond normally to insulin, is considered the primary pathological basis for the reproductive dysfunction seen in PMOS.
Loading booking..