Getting pregnant is a big step and therefore, when you decide to have a baby, you must be in the best of your physical and mental condition. After all, you and your partner want a healthy pregnancy and a healthy child. For couples planning a pregnancy, a consultation with a gynaecologist is a must. Thereafter, you may be advised to take certain tests that will check your hormone levels or will include a genetic workup. To give you a fair idea of what you must do before planning a pregnancy, we spoke to two leading experts.
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Things To Remember Before Going For Health Tests
Dr Shiva Murarka, Senior Scientist-Reproductive Genomics, Neuberg Centre for Genomic Medicine, Ahmedabad, says, “Navigating through the examinations can be a daunting process, so before planning a pregnancy, it is important to undergo a preconception evaluation and further understand the utility of genetic screening in couples intending for pregnancy.”
“To begin with, an appointment for a medical checkup would entail an assessment of various clinical and lifestyle associate factors, based on which further investigational workup can be suggested. These investigations can include blood workup, ultrasound for females, and sperm assessment for males”, he added.
According to Dr Murarkar, factors like a marriage between blood relations, family history of a probable genetic condition (multiple abortions, stillbirths, the baby passed away at an early age, individuals with developmental delay/intellectual disability), and ethnicity of the couple should be considered to evaluate the risks.
Tests For Couples Planning A Pregnancy
Here are some of the tests couples should take before planning a pregnancy:
Couple Chromosomal Karyotype
Karyotyping is a type of test that assesses the chromosomal pattern of the couple. Dr Murarkar says, “Our cells are made up of 23 pairs of chromosomes which consist of genes. Any change in the number or structure of the chromosomes can cause first-trimester pregnancy loss. Therefore, it becomes important to evaluate the chromosomal pattern in couples through karyotyping. This will analyse the chromosomal pattern in the couple and rule out any balanced rearrangement or exchange of genetic material in either of the partners. If such changes are identified, the risk of passing on an unbalanced chromosomal pattern in the offspring can be discussed, and appropriate testing and reproductive options can be offered to the couple.”
Hb electrophoresis
Everyone can be a carrier for conditions, such as beta thalassemia and Spinal Muscular Atrophy (SMA). Hb electrophoresis helps ascertain the couple’s Thalassemia carrier status, says Dr Murarkar. In addition, carrier screening can be tailored to the couple's ethnicity and the results of the couple's medical tests. This will enhance the couple's reliance on carrier screening, he adds.
Genetic testing
Dr Murarkar says, “If one of the partners has a family member, who has been diagnosed with a genetic condition, it is recommended that the couple consult with a genetic counsellor who can assist with the risk assessment for their pregnancy and offer genetic testing if required. This will boost the odds of the couple having a healthy pregnancy.” The doctor recommends genetic testing via Sanger sequencing of the HBB gene, which was developed by the British biochemist Fred Sanger and his colleagues in 1977 and determines the sequences of many relatively small fragments of human DNA.
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Expanded carrier screening via Next Generation Sequencing technology
“This type of testing is recommended for couples with a history of marriage in blood relation or history of a probable genetic condition in the family,” says Dr Murarkar.
In addition, certain tests associated with fertility-related issues can also be considered in people who are finding it difficult to conceive, especially in terms of male fertility. These include karyotyping, a Y chromosome microdeletion test and a sperm DNA fragmentation, which can also be offered to assess the genetic health of the sperm.
Tips To Ensure A Healthy Pregnancy
If a couple is healthy and not using any contraception during intimacy, then they could get pregnant within one year, says Dr Sushma Tomar, Consultant - Obstetrician & Gynaecologist, Fortis Hospital, Kalyan. “They should start taking Tab Folic Acid 3 months before getting pregnant. They should get the Rubella vaccine to avoid any infection and the couple should monitor the woman’s menstrual cycle and plan the intercourse from the 13th-18th day of menstruation.”
However, according to the doctor, if a woman is unable to conceive even after six months of trying, then they should consult a doctor. “The doctor will undertake the husband’s semen examination to check the count and quality of the sperm, and the wife will undergo abdominal and pelvic sonography. The woman would have to take a hormone test during her periods, ovulation test with follicular study, and Tubal Patience Test (TPT) by Hysterosalpingography,” she adds.
