- Insights about the importance of prenatal screening and genetic testing through one mother-to-be inspiring journey.

When Sonia Bumbel, a 34-year-old from Romania, discovered she was pregnant, she felt a mix of excitement and caution. After four years of trying to conceive, including a difficult experience with an ectopic pregnancy that resulted in the loss of a fallopian tube, Sonia and her husband, Claudiu, were determined to do everything possible to safeguard their child’s health. For them, this pregnancy was a long-awaited blessing, and they wanted to take every precaution to ensure the well-being of their unborn baby.

This Timisoara-based couple had no known family history of genetic conditions, but they were aware that certain health risks could still exist. Claudiu, who was in his forties, also felt it was essential to explore all preventive options. “We wanted to make informed choices, especially after such a long journey to start a family.” They decided to look into prenatal screening options, recognizing that understanding their baby’s health would give them peace of mind and help them make the best decisions for their family.

During one of her early pregnancy check-ups, Sonia’s gynecologist introduced her to the idea of genetic and prenatal screening. This led her to consult Dr. Christina Gug, a genetic specialist, who emphasized the value of these screenings in identifying hidden health risks that might not show up in routine scans. Such advice struck a chord with this resilient woman, as she knew that a single test could be instrumental in preparing for her baby’s future.

Taking Action with Comprehensive Screening

After learning more, the couple decided to go ahead with a full range of screenings to check for chromosomal abnormalities and potential genetic conditions they could unknowingly carry. They chose BGI Genomics NIFTY® Pro test to screen for chromosomal conditions, along with the updated NIFTY® Mono test to detect certain dominant single-gene disorders. Additionally, with guidance from Dr. Gug, they opted for the VISTA™ Carrier Screening to assess whether either of them carried recessive genetic traits that could affect their child.

Based on the test results, Sonia carries pathogenic variants in the ACADM and GJB2 genes, while Claudiu carries a pathogenic variant in the AGA gene. Since the mutations carried by the couple are located in different genes and follow an autosomal recessive inheritance pattern, their offspring would not carry two pathogenic copies of the same gene and, therefore, are at low risk of inheriting these specific genetic disorders. However, it is recommended that they undergo genetic counseling before future pregnancies to further confirm and interpret the test results.

The decision to undergo comprehensive screening brought the expectant mother a sense of control. “It was a relief to know that we could check so many potential health issues with just a simple blood test,” she recalls. Despite her initial anxiety about the results, the testing process was straightforward and painless. In February 2024, she completed the blood draw, and within just ten days, received the reassurance she had hoped for—no chromosomal abnormalities or genetic risks were detected in her baby.

Sonia’s VISTA™ Carrier Screening results, proactively provided by her, revealing how she carries pathogenic variants in the ACADM and GJB2 genes, recommending they undergo genetic counseling before future pregnancies.

Genetic Screening For a Peaceful Pregnancy

The results of these screenings allowed Sonia to feel more at ease and enjoy her pregnancy. Having faced the heartbreak of failed pregnancies in the past, she found comfort in knowing that they were doing everything possible to ensure a healthy future for their child. “After so many years of trying, the last thing we wanted was uncertainty about our baby’s health,” she explains. With each test, the expectant parents felt reassured that they were prepared and informed.

This determined mother emphasizes that many in Romania and Eastern Europe lack access to information about prenatal screening, as genetic testing is not widely discussed. “Without my gynecologist, I might never have known about genetic screening,” she reflects. Inspired, she now hopes to raise awareness about the benefits of early and proactive testing.

Sonia’s Nifty Pro Test result, proactively provided by her, revealing no chromosomal abnormalities or genetic risks to be inherited by her baby.

Encouraging Other Expectant Parents

As Sonia approaches her third pregnancy trimester, she’s grateful for the peace of mind these screenings have provided. “Taking these tests likely saved us from a lot of stress and worry.” Her advice to other expectant parents is simple yet powerful: “Put your future child’s health first. With the advances in medical technology today, taking these tests is a step toward a healthier future for your family.” Sonia has already encouraged friends to consider prenatal and genetic testing, emphasizing the value of knowing as much as possible before a baby is born.

A 3D ultrasound image of Sonia and Claudiu's baby.

Today, this loving couple look forward to welcoming their child, feeling empowered by the proactive steps they’ve taken. Their journey serves as a reminder of the impact that prenatal and carrier screenings can have—not only on parents’ peace of mind but also on the long-term health and happiness of their families.

Note: This content has been made available by BGI Genomics for informational and educational purposes only. It is not intended to be a substitute for professional medical advice, diagnosis, or treatment.

About NIFTY® Pro

NIFTY® Pro is the ultimate non-invasive prenatal test that offers expectant parents comprehensive insight into their baby's health through a simple maternal blood sample. Using advanced next generation sequencing technology NIFTY® Pro screens for the risk of trisomy 21，13， 18, and sex chromosome aneuploidies, with extended screening for rare autosomal aneuploidies and 92 types of microdeletion and microduplication syndromes

About NIFTY® mono

The tested product in this case is NIFTY® mono (27). NIFTY® mono is a non-invasive prenatal test that assesses the risk of monogenic diseases by analyzing cell-free fetal DNA in maternal blood starting from the 10th week of pregnancy. Currently, we offer two versions: NIFTY® mono (27) and NIFTY® mono (202).

NIFTY® mono (27) focuses on 27 monogenic diseases, providing a targeted approach for assessing genetic risks.

NIFTY® mono (202) screens for 202 dominant monogenic diseases—including skeletal, neurological, and muscular disorders, craniosynostosis, and multisystem syndromes—across 155 target genes.

Both versions enable the detection of various clinically significant and life-altering genetic conditions in a fetus that may not be observable through ultrasound, offering a more complete picture of potential risks when a pregnancy is adversely affected by a genetic condition.

About VISTA™ Carrier Screening

Vista™ Carrier Screening offers multiple panel options (Mini, Targeted, & 1200+) to fit with your own condition. The latest released 1200+ panel product can detect over 1,200 genes, more than 1200 genetic disorders are covered, providing carriers with educational summarized information.

About BGI Genomics

BGI Genomics, headquartered in Shenzhen, China, is the world's leading integrated solutions provider of precision medicine. Its services cover more than 100 countries and regions and involve more than 2,300 medical institutions. In July 2017, as a subsidiary of BGI Group, BGI Genomics (300676.SZ) officially began trading on the Shenzhen Stock Exchange.

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