Genetic Testing in Pregnancy

Causes & Risk Factors

Several distinct clinical situations may prompt consideration of genetic testing during an ongoing pregnancy:

•  Abnormal ultrasound findings suggestive of a structural or chromosomal condition

•  High-risk result on prenatal screening (first-trimester dual test, NIPT, or maternal serum screening)

•  Previous pregnancy affected by a genetic or chromosomal condition

•  Known parental genetic variant or chromosomal rearrangement

•  Family history of an inherited disorder relevant to the current pregnancy

•  Advanced maternal age, in appropriate clinical context

•  Previous child born with a genetic or chromosomal condition

Symptoms & When to Test

As with other prenatal genetic testing, this category is driven by clinical indication rather than maternal symptoms.

•  Testing needs are identified through screening results, ultrasound findings, or known family/genetic history

•  The specific test selected depends on which of the above indications applies

When Should You Consider Testing?

Genetic testing in pregnancy is considered as soon as a relevant indication is identified — an abnormal screening result, an ultrasound finding, or a known genetic risk factor — so that results are available with adequate time for counselling and decision-making within the pregnancy.

Why Tests Are Combined

It is important to distinguish screening tests (which estimate probability — NIPT, first-trimester screening, maternal serum screening, PGT-A) from diagnostic tests (which establish whether a condition is present — karyotyping, chromosomal microarray, targeted molecular testing). A high-risk screening result does not necessarily mean the fetus has the condition, and appropriate counselling and confirmatory testing should be considered where indicated.

Because genetic and reproductive conditions can have multiple possible causes — recurrent pregnancy loss, for example, may involve chromosomal abnormalities, autoimmune conditions, endocrine abnormalities, or anatomical factors — doctors may combine hormonal investigations, autoimmune testing, chromosomal analysis, and molecular genetic testing depending on the clinical situation.

Testing should always be guided by the specific clinical question rather than performing a large number of unrelated tests — your obstetrician or genetic counsellor will help select the combination most relevant to your circumstances.

Tests Available at NPL

Most reproductive hormone and genetic tests do not require fasting. However, some tests have specific timing requirements (such as a particular day of the menstrual cycle), and if other tests are ordered at the same time, fasting may be required for those investigations. Please follow the preparation and timing instructions provided by your doctor or NPL.

Home Sample Collection

NPL offers convenient home sample collection for Genetic Testing in Pregnancy blood tests, so you don't need to visit a lab in person.

→ Book your test online, via the NPL app, or by calling +977 1 5970147 and select a convenient time slot for home sample collection.

→ A certified and experienced NPL phlebotomist visits your home at the scheduled time, following strict hygiene and safety protocols.

→ Your sample is transported under controlled, monitored conditions to NPL's NABL ACCREDITED UNDER ISO 15189:2022 laboratory for processing.

→ Your digital report is delivered securely to your phone or email, along with access to download and share it as needed.

When to See a Doctor

•  Abnormal ultrasound finding during pregnancy

•  High-risk result on any prenatal screening test

•  Known parental genetic or chromosomal risk factor

•  Family history of an inherited disorder relevant to the pregnancy

•  Previous child or pregnancy affected by a genetic condition