Understanding How to Read NIPT Results for Gender Determination

Understanding how to read NIPT results for gender determination is a common concern for expecting parents.   NIPT (Non-Invasive Prenatal Test), a noninvasive prenatal screening, helps you determine the fetal sex of your unborn child. The test examines tiny fragments of DNA, called cell-free DNA, in maternal blood samples of your baby. By reading the report, you can understand the health services available based on the existence or non-existence of Y chromosomes.

NIPT refers to a safe screening test, which is performed during pregnancy. It involves  examining minute fragments of DNA belonging to a fetus in the blood of the mother. It also helps in examining whether the baby is sick with some genetic issues, such as Down syndrome or other health issues. 

The baby won't be exposed to any risk as this is a non-invasive test. This test is accurately performed after  approximately 10 weeks of pregnancy, which is a crucial period in maternal-fetal medicine. It is also sometimes used by parents as a way to predetermine the baby's gender in some countries to avoid invasive testing. The NIPT test is easy, fast and relieves parents from worries regarding the health services of their child.

NIPT provides early and reliable gender prediction. You can undergo this test as early as 10 weeks of pregnancy. Many couples wonder and feel enthusiastic to know the gender of the baby they are expecting. 

In such a scenario,  NIPT can be used to forecast gender, whereas ultrasound might require additional time and proper positioning of the fetus using the DNA. Also, you don't need to wait until the mid-pregnancy scans. Parents consider it to be a precise and safe method of knowing the gender of the child, as discussed clinically. 

Besides, it ensures the health of the baby by screening for chromosomal abnormalities. However, in India, gender disclosure is restricted by the legal rules to avoid unnecessary invasive testing methods.

Note: Disclosing fetal sex is illegal and punishable in India under the PCPNDT Act. NIPT in India is strictly for health screening purposes.

Interpretation of the NIPT test results is not difficult. In case the lab report indicates the existence of the Y chromosome, the infant is a male. If there is no Y chromosome, then the baby is a girl. The report tends to provide a list of checked chromosomes and will show any abnormal findings. 

In the case of  gender determination,  particularly whether it is a female fetus, see under sex chromosomes. The report is made clear by the doctors or genetic counsellors. Findings are normally easy and quite definitive, especially in high-risk cases. It must always be subjected to the guidance of the medical provider to be properly interpreted.

• Confirm that the name of the patient being reported on, the date of birth and the date of sample collection are all displayed correctly. Confirm the  type of the test (NIPT)and record the name of the dining lab. This is optimal identification of the correct report to avoid confusion and get accurate results on the correct pregnancy.

• Secondly, make sure that the percentage of fetal fraction on the report is correct. This is rated by the lab; anything beyond four to five per cent is normally a good result. When the fetal fraction is low, the lab will indicate the inconclusive nature of the results and indicate a re-sample to get accurate results. ≥4–5% is considered reliable. Low fractions may cause inconclusive results and require retesting.

• Locate the section that is entitled Sex chromosomes or Sex determination. Look for phrases like the Y chromosome detected or the No Y chromosome detected, which are assessed from the mother's bloodstream. The report will sometimes include research findings and confidence measures such as z-scores, indicating the degree to which the data provides support in favor of the gender. Y chromosome detected→ Male fetus. No Y chromosome detected → Female fetus.

• Review clinical statements or comments of the report at the laboratory where the report describes limitations, uncharacteristic findings, and research findings. The lab report indicates  mosaicists, maternal variations or inconclusive sex chromosome results, including concerns related to X-linked disease. You should consider invasive diagnostic testing to confirm the diagnosis in some instances, along with the ethical consequences related to such a decision.

• Examine some of the indicators of certainty, including confidence percentage, z-score and level of risk. Parents must be confident because it indicates a strong gender call. Sum up these indicators along with fetal fraction and the clinical situation.

• Lastly, submit the report to your doctor or genetic counsellor. They will define terms, verify the gender meaning, and suggest follow-up tests where necessary.

If the test uniquely indicates the presence of male chromosomes ( Y chromosome), it is a boy. When the test displays nothing but the female chromosomes (there is no Y chromosome, and all X chromosomes), the baby is a girl. This is anchored on DNA fragments in the blood of the mother. 

As the test peers directly at the chromosomes, it tends to be highly accurate. Nevertheless, the errors may occur in very rare cases due to a low fetal fraction or in cases involving twins. Physicians never assume the explanation of such results without much explanation.

NIPT detects the cell-free fetal DNA in the maternal bloodstream and fragments that come from the sex chromosomes. This test detects the presence of the Y chromosome mainly. The gender accuracy is measured through sensitivity, specificity, false positives, and false negatives.

However, in India, pre-conception and Prenatal diagnostic techniques are strictly prohibited under the  PCPNDT Act. This law prohibits the disclosure of fetal sex before the child's birth to prevent sex-selective abortion. This law promotes gender equity.

NIPT is more dependable during the early pregnancy, as compared to an ultrasound. Due to its accuracy, some parents like NIPT to quench their curiosity. Parents also must keep in mind that the primary purpose of NIPT is to examine the health of a baby, especially in cases of increased risk.

Despite its high accuracy, several factors can affect the accuracy level of the NIPT results.

• Low Fetal Fraction:  If the proportion of the total DNA sample is low, the result can be affected. IT usually happens in cases of maternal obesity, gestational age, or any technical issues.

• Multiple Gestations: It is difficult to determine individual fetal sex in cases of twin or higher-order pregnancies.

• Placental Mosaicism:  In some cases, DNA from a non-viable twin or placenta can interfere with the accuracy of the results.

• Past Medical History: Specific maternal health conditions like malignancy or prior organ transplant can affect the accuracy of NIPT results. 

When this is happening in pregnancies of twins, NIPT is able to detect the presence of at least one male fetus by identifying the Y chromosome. Nevertheless, it does not necessarily indicate whether both babies are boys or sometimes one is a girl compared to the other boy. This causes it to be a little bit less accurate than single pregnancies. 

NIPT helps to obtain an early gender suggestion in twins, but the parents frequently require an ultrasound in the future to reach a definitive confirmation. When the NIPT is applied to two babies, doctors tend to discuss the limitations in order to avoid confusion.

In India, gender testing by NIPT is legally limited because the determination of sex before birth is not permitted. According to the test, there is a scientific manner in which gender can be detected, even though this aspect is not typically reported to parents in Indian laboratories. 

In the case of NIPT done on parents, there will be only the genetic healthy information reported and not the gender. It is the duty of parents to know the difference and actually concentrate on the primary purpose of the test, the safety of the baby and possible genetic risks.

The proportion of baby DNA present in the blood of the mother is called the fetal fraction. The larger the fetal fraction, the more accurate the NIPT result, particularly its ability to predict gender. The test can easily fail to identify the Y chromosome, making the test produce false results in case the fetal fraction is very minuscule. 

Labs generally require a fetal fraction of  between 4 and 5 to pull out credible results. A repeat test may be requested by doctors in case of insufficient fetal DNA if the fraction is low. Thus, it makes fetal fraction significant in determining the accuracy of the tests, especially when there is enough fetal DNA present, indicating low risk for complications.

The percentage of the baby’s DNA and the mother's DNA is called the fetal fraction. It normally grows with the progression of the pregnancy. The fetal fraction should also be good, which is an indication that the test has been able to detect the chromosomes of the baby. 

A low level will give inconclusive or inaccurate results. It can be influenced by a number of factors, including the stage of the pregnancy when it was conceived, the weight of the mother, or the quality of the sample. This is the reason behind the laboratory tests and reporting of fetal fraction in all NIPT outcomes to precision, especially in cases of congenital abnormalities.

When the fetal fraction is high, the test can easily determine the gender. If the fraction of fetuses is low, the DNA in the baby may not be clear, and the test might present some deviant or unclear gender results. In such instances, the labs can request a repetition sample in a few weeks. 

The cost of NIPT tests in India usually varies between INR 18,000 and INR 25,000, depending on the hospital or lab. For a reliable and genuine testing procedure, we recommend MyDiagnostics. Here, the cost of the test ranges from  INR 12,500 to INR 17,500 based on different variants. 

The exam consists of a genetic health analysis rather than legally stating gender. Depending on the conditions being examined, some advanced versions of genetic screening can be pricier. There is no sharing of gender information due to Indian laws, similar to the restrictions on chorionic villus sampling. Hence, parents should consider the health technology assessment, expense, and the medical significance of the test, including conditions like Turner syndrome.

Generic NIPT performs an oath on genetic health screening only and reports not on gender.  NIPT with gender also comes with the same health checks, except that it indicates whether the baby is a male or a female. Only the generic one is legally marketed in India, whereas both types are sold in other countries. 

Cost can also vary, with the difference being that the gender-inclusive test of NIPT tests will be a bit higher. The distinction does not lie in the testing procedure, but is visible in the results of analysis.

The NIPT test measures the small scraps of DNA in the child that are present in the mother's blood. It examines the chromosome count with the view to determining whether the baby might have genetic disorders such as  Down syndrome (two additional chromosomes 21),  Edwards syndrome, or Patau syndrome. 

It also lets you know the presence of the Y chromosome, which determines gender. However, the test mainly focuses on determining the child’s health alongside NIPT's diagnostic accuracy. Information about gender comes automatically along with the DNA screening, which is essential for detecting genetic diseases. Hence, this test provides health services and is informative for expectant parents, even in cases of negative results from NIPT.

• The  NIPT test helps to determine genetic disorders and the biological gender of the child. Ultrasound, on the other hand, is a visual examination of the fetus. 

• NIPT provides maximum accuracy and can be performed in an earlier pregnancy. Comparatively, an ultrasound can be performed after 14 weeks of pregnancy. 

An ultrasound scan uses high-frequency sound waves to reveal a baby's gender. It provides live images of the inner area of the uterus and shows the development of the fetus.

• During an ultrasound, a handheld device named a transducer sends high-frequency sound waves into the body.

• The sound waves bounce off the internal structures, including the bones, organs, and soft tissues. The sound waves return to the transducer.

• The computer converts these returning echoes into the real-time image that you can see on the monitor.

Notes: Gender prediction through ultrasound scan is not 100% accurate. The report is 95 to 99% accurate in cases of late pregnancies. The accuracy can differ due to several factors including; baby's position, excessive maternal body tissue, umbilical cord between legs, and early gestational age. 

NIPT is very precise in predicting males and females, with a predicted accuracy that is very high, up to 99% in single pregnancies. But it has some limitations. It may not be accurate in cases of twins, low fetal fraction or rare genetic conditions. 

In India, it is not allowed to share the gender part of the report as well because it is prohibited by law. Parents are advised not to undertake NIPT due to gender revealing only, but on its basic purpose, which is to monitor the health condition of the baby. 

NIPT is a powerful, non-invasive test which helps expectant parents and doctors monitor a baby’s health early in pregnancy. However, the test can reveal gender in some countries by identifying the presence or absence of a Y chromosome; in India, this practice is strictly prohibited. When reading an NIPT report, you must focus on the fetal fraction, chromosomal results, and clinical comments. Make sure to consult a doctor for accurate interpretation.