Women's Health & Reproductive Genetics
Women's health and reproductive genetics involve laboratory investigations that support reproductive planning, fertility evaluation, pregnancy care, prenatal screening and diagnosis, and assessment of genetic conditions.
Laboratory testing may be recommended at different stages — from preconception and fertility planning to pregnancy and newborn care. Depending on the clinical situation, tests can help evaluate reproductive health, identify selected genetic risks, screen for chromosomal abnormalities, and investigate certain causes of infertility or pregnancy loss.
At National Path Lab (NPL), specialized laboratory investigations are available to support selected aspects of women's health, reproductive medicine, prenatal genetics, and genetic evaluation.
Conditions (10)
About Women's Health & Reproductive Genetics
Testing Areas Covered on This Page
• Infertility & Reproductive Health
• Recurrent Pregnancy Loss
• Prenatal Screening
• Prenatal Diagnostic Testing
• Preimplantation Genetic Testing (PGT)
• Genetic Carrier Screening
• Chromosomal Disorders & Karyotyping
• Sex Chromosome & Y-Chromosome Genetic Testing
• Maternal Serum Screening
• Genetic Testing in Pregnancy
Screening vs. Diagnostic Testing — An Important Distinction
It is important to understand the difference between screening and diagnostic testing across this entire department. Screening tests (such as NIPT, first-trimester screening, maternal serum screening, and PGT-A) estimate the probability or risk of a condition. Diagnostic tests (such as karyotyping, chromosomal microarray, and targeted molecular genetic testing) are used to establish whether a specific genetic or chromosomal condition is actually present.
A high-risk screening result does not necessarily mean that the fetus or embryo has the condition. Appropriate genetic counselling and confirmatory diagnostic testing should be considered where indicated.
Why Is Genetic Testing Sometimes Done in Combination?
Genetic and reproductive conditions can have multiple possible causes. For example, recurrent pregnancy loss may involve chromosomal abnormalities, autoimmune conditions, endocrine abnormalities, anatomical factors, or other causes. Similarly, infertility may involve hormonal, reproductive, male-factor, or genetic factors.
Therefore, doctors may combine hormonal investigations, autoimmune testing, chromosomal analysis, and molecular genetic testing depending on the clinical situation. Testing should be guided by the clinical question rather than simply performing a large number of unrelated tests.
Do Women's Health & Reproductive Genetic Tests Require Fasting?
Many reproductive hormone and genetic tests do not require fasting. However, some investigations have specific timing or preparation requirements — for example, certain reproductive hormone tests may need to be performed at a particular stage of the menstrual cycle. If multiple tests are ordered together, fasting may be required for some accompanying investigations. Please follow the preparation and timing instructions provided by your doctor or NPL.
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