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Know More about Probable Genetic Disorders during Pregnancy by Gynaecologist and Obstetrician Dr. Meena Muthaiah

Dr. Meena Muthiah is a best gynaecologist working at Manipal Hospital Bangalore.  With the experience of more than 20 years, she is specializing in high-risk pregnancies, colposcopy, vaginal surgeries, minimally invasive surgery, genetic & haematological disorders. After completing her MBBS from Madurai Medical College in 1993, she pursued DNB from Manipal hospital Bangalore in 2000. Her achievements include Gold Medal in OBG and Gyne during Under graduation. She is an esteemed member of the Bangalore Society of Obstetrics & Gynaecology and the Federation of Obstetric and Gynaecological Societies of India. Her specialization includes Obstetrics Medical, genetic & haematological disorders in Pregnancy, High-Risk Pregnancy and Social Obstetrics, Gynaecology, Colposcopy, Vaginal Surgeries, Urogynaecology, Minimal invasive surgery.

Pregnancy and Genetical Disorders

A genetic disorder is a condition a baby is born with. In some cases, the cause is unknown while in some it can be caused by a chromosomal, hereditary, or environmental issue. Every year approximately 3% of babies are born with congenital abnormalities.

 

Risk Factors

Babies with congenital issues are usually born to parents who do not have any risk factors. However, some risk factors increase the chance of having a child with a genetic disorder:

  • Exposure to drugs or certain infections
  • Family history of a genetic disorder
  • Pre-pregnancy health conditions, such as diabetes
  • Pregnancy over the age of 35
  • Recreational drug use
  • Smoking
  • Folic acid deficiency
  • In-vitro fertilization (IVF)
  • Multiple pregnancies
  • Past pregnancy that involved a congenital abnormality

Chromosomal Disorders

Chromosomal disorders occur by an extra or missing chromosome. Such pregnancies often end in miscarriage while some can be managed and those affected can enjoy fulfilling lives.

  • Down Syndrome
  • Klinefelter Syndrome
  • Patau Syndrome and Edward’s Syndrome
  • Turner syndrome

Hereditary Disorders

These are being passed down from parents to their children. Hereditary conditions are recessive, where two genes are needed to show up in the baby. Certain ethnic groups are likely to carry genes for a specific genetic disorder. Parents from the same ancestral background are more prone to having a child with certain genetic conditions. Such disorders are

  • Beta Thalassemia
  • Cystic Fibrosis (CF)
  • Sickle-Cell Anemia
  • Tay-Sachs Disease

Environmental Risks

A teratogen affects the growth and development of a fetus during pregnancy. Exposure to a teratogen in pregnancy can lead to a genetic abnormality. Other substances like alcohol, drugs, and certain medications, and other infections like chickenpox, rubella, syphilis, or toxoplasmosis can affect a baby’s development. The development of a congenital abnormality depends on factors like:

  • The time of exposure
  • Amount of toxin you are exposed to
  • The stage of pregnancy you’re in

Exposure to toxins from the environment can also affect every system of a baby’s body. It includes the head, facial features, brain function, nervous system, heart, ears, eyes, and bones.

Diagnosis

A variety of screening tests are helpful to check congenital abnormalities.  Women over 35 years of age have other risk factors.

Some of the screening tests for genetic disorders are:

  • First Trimester Blood Tests
  • Second Trimester Quad Screen Blood Test:
  • Amniocentesis
  • Chorionic Villus Sampling (CVS)
  • Level II Ultrasound
  • Noninvasive Prenatal Testing (NIPT)
  • Nuchal Translucency (NT Scan)

 

Take away

It’s normal to worry about the health of your baby when you are pregnant. It can be stressful to go through routine prenatal screenings. Talk to the Best gynecologist in Bangalore openly about all your issues. For best treatment and friendly consultancy during such a crucial period, contact Dr. Meena Muthiah at Manipal Hospital Bangalore.

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Dr. Ankita Wadhwa

Dr. Ankita Wadhwa has 14+ years of experience in handling patients for health-related issues. With an in-depth understanding of different medical procedures, she has handled several complex cases. She has also worked in many reputed hospitals such as Fortis Escorts Heart Institute, CK Birla Hospital, and Paras Healthcare.

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