Pregnancy is a special period filled with a series of emotional and physical changes for a woman. It comes with many exciting moments for the parents, as well as gynecologists and obstetricians who will manage the pregnancy and the development of the fetus. From the view of Dr. Dimitar Kalchovski, the nation’s well-known healthcare expert, the advantages of non-invasive prenatal testing (NIPT) cannot be underestimated.
Dr. Dimitar Kalchovski is a gynecology and obstetrics specialist from the University Clinic of Gynecology and Obstetrics in North Macedonia, and the founder of GINEKALIX, a company that specializes in providing healthcare solutions, including genetic testing. Chiming in on the topic with a recent interview with Televizija 24, he gives professional recommendations on steps to take and insider insights on the non-invasive prenatal testing (NIPT) situation in the country.
Pregnancy management in North Macedonia:
Pregnancy is a condition in which additional care should be taken for the future mother. Despite the monthly routine examinations, additional screening tests and examinations are sometimes required, and they shall be performed under the guidance of a specialist.
In North Macedonia, pregnancy management for each woman is primarily managed by the family’s gynecologist, who knows and follows the patient as best as possible before and during pregnancy. There are also certain tests and extra examinations that every woman can do, at clinics and hospitals throughout the country.
Prenatal examinations and non-invasive prenatal testing (NIPT):
The first examination that a gynecologist would recommend is a pregnancy test, to find out whether a woman is pregnant. A beta HCG blood test can be done to measure the HCG level, a hormone produced during pregnancy. Of course, an ultrasound examination is also necessary. If it is an early pregnancy, examinations should be conducted to determine whether it is a healthy uterine pregnancy or an extrauterine pregnancy.
A full-term pregnancy lasts around 40 weeks and is divided into three trimesters. Respective ultrasound screenings shall be performed during each trimester. The first is taken between weeks 10 to 14, the second from weeks 20 to 24, and the third around week 30.
To determine whether the pregnancy goes as planned or unexpected complications arise, additional tests are sometimes required. One of the most relevant ones is non-invasive prenatal testing (NIPT) which lets parents and gynecologists know if the fetus is at risk for certain genetic conditions.
NIPT is a safe, non-invasive test that will pose no harm or risk to the fetus or the mother. It can be done in the first trimester of pregnancy, as early as week 10, requiring only a small maternal blood sample.
With the blood sample, NIPT can screen for a number of anomalies, most often used to look for chromosomal disorders like Down syndrome (trisomy 21), Edwards syndrome (trisomy 18), and Patau syndrome (trisomy 13). It is a very sensitive test, with an accuracy of about 99% for trisomy 21, 18, and 13. Some NIPT may also include screening for sex chromosome aneuploidies and additional chromosomal disorders caused by deleted or duplicated sections of a chromosome.
These screening test results will allow specialists to recommend follow-up examinations and management accordingly. If there is a deviation or the result comes back positive, diagnostic tests will then be recommended, such as amniocentesis, which can be performed after weeks 15 or 16. Amniocentesis is a more invasive procedure that collects amniotic fluid and cells from the uterus for further tests.
Who is recommended to undergo NIPT?
In principle, every potential high-risk pregnancy is recommended to take a NIPT. These include:
– Maternal age of 35 and older at delivery (geriatric pregnancy).
– Pregnancies that have potentially occurred with in-vitro fertilization (IVF).
– Pregnancies in which the mother herself has had unsuccessful pregnancies.
– A personal or family history of a pregnancy with a chromosomal abnormality.
Deciding to have a genetic screening test, such as NIPT screening, is a very personal decision. Pregnant women shall discuss all their prenatal screening options with their obstetricians or healthcare provider. If they wish to discuss the screenings in more detail, genetic counseling would be a good idea to help to make an informed decision.
Dr. Kalchovski underlines how specialists cannot change genetics but can help advise future parents on the best direction to take. “Giving them the best solution is up to us, but the final choice will be theirs”. From his experience, a lot of pregnant women, regardless of their age or conditions, would like to make sure everything is all right with their pregnancy and choose to take NIPT.
Prenatal genetic tests such as NIPT are not currently covered by the National Health System in North Macedonia. There have been a lot of discussions undergoing with the National Health System and the Ministry of Health, but it definitely takes time for changes to happen and for such options to be much more accessible, thus allowing every pregnant woman to take such tests to further enhance maternal health.
GINEKALIX DOOEL is a company that was founded in Skopje, Macedonia. It specializes in the field of IVF/ medical equipment, drugs and medical devices, genetic testing, stem cell banking, interventional radiology, Gynecology and Obstetrics.
In 2020, the GINEKALIKS GENETIC LABORATORY was established. It is a pioneer laboratory in the region that provides sequencing solutions for non-invasive prenatal testing, such as the NIFTY® Pro.
About BGI Genomics
BGI Genomics, headquartered in Shenzhen China, is the world’s leading integrated solutions provider of precision medicine. Our services cover over 100 countries and regions, involving more than 2,300 medical institutions. In July 2017, as a subsidiary of BGI Group, BGI Genomics (300676.SZ) was officially listed on the Shenzhen Stock Exchange.