Prenatal genetic testing: Navigate your pregnancy journey with clarity

Pregnancy is a journey filled with anticipation and joy, yet for many expectant parents, there’s also an undercurrent of concern. The excitement of welcoming a new life can be tinged with anxiety about the baby’s health. While most pregnancies result in healthy babies, understanding the options available for gaining insight into your baby’s well-being is crucial.

As technology continues to advance, prenatal care has evolved considerably, offering expectant parents unprecedented opportunities for proactive healthcare decision-making. With Non-Invasive Prenatal Test (NIPT) at the forefront of precision medicine, the future of prenatal genetic testing shines brighter than ever, empowering families with knowledge and choice as they embark on the journey of parenthood.

Dr Kranti Lohokare Jadhav, Specialist in Obstetrics and Laparoscopic Gynaecology at Aster Hospital, Sharjah, says the latest innovations in genetic screening have a profound impact on expectant parents.

Talking about the contrasting effects of traditional methods with the cutting-edge Non-Invasive Prenatal Test (NIPT), Dr Jadhav explains that traditional screenings such as the double and triple marker tests assess chromosomal abnormalities but carry a 5 per cent false-positive rate. “These tests, conducted at different stages of pregnancy, necessitate invasive follow-ups like chorionic villus sampling (CVS) or amniocentesis for conclusive diagnoses, albeit with associated risks,” she says.

Highlighting NIPT as a game-changer, Dr Jadhav elaborates, “NIPT examines foetal DNA fragments in maternal blood as early as 10 weeks, offering a non-invasive alternative with results typically within a week.” This method not only detects Down syndrome, Edwards syndrome, and Patau syndrome with high accuracy but also provides insights into foetal sex and rare genetic conditions, minimising unnecessary invasive procedures for high-risk pregnancies.

Addressing concerns about accuracy, Dr Jadhav reassures that NIPT boasts up to 99 per cent sensitivity for common chromosomal abnormalities, significantly surpassing traditional methods. Citing international studies, she highlights NIPT’s reliability in detecting conditions such as Down syndrome with unparalleled precision, making it a preferred choice for informed prenatal screening.

In advising expectant parents, Dr Jadhav lay emphasis on the importance of informed decision-making aligned with personal beliefs and values. “Prenatal testing offers valuable insights into potential health outcomes,” she advises. “Understanding screening results — whether positive or negative — empowers parents to plan effectively for their child’s care, including options for further diagnostic testing.”

She further stresses the nuanced nature of these choices, acknowledging, “Some parents opt for early knowledge of genetic conditions to prepare adequately, while others prefer to await their child’s birth for such information.” Dr Jadhav calls attention to the significance of individual preferences in navigating the complexities of prenatal care, underlining that every decision is valid and deeply personal.

Other essential pregnancy tests

Dr Wajiha Ajmal, a Specialist in Gynecology and Obstetrics at Thumbay University Hospital, sheds light on other crucial tests that shape maternal and fetal health outcomes with each trimester.

“During the first trimester,” Dr Ajmal explains, “a battery of tests ensures comprehensive monitoring of maternal and fetal health.” From blood tests assessing blood count, immunity to infections like rubella and HIV, to thyroid function and glucose levels screenings, these tests aim to detect potential issues early on. Urine tests play a pivotal role in identifying urinary tract infections and other abnormalities, while ultrasound examinations such as the dating ultrasound and nuchal translucency screening confirm gestational age and screen for chromosomal abnormalities like Down syndrome.

Moving to foetal health, Dr Ajmal underscores the significance of ultrasound scans in early detection. “Ultrasound scans,” she notes, “can detect foetal abnormalities as early as 11 to 14 weeks.” These scans, including the nuchal translucency and mid-pregnancy scans (performed around 18 to 20 weeks), pinpoint structural anomalies such as neural tube defects, cardiac anomalies, and genetic syndromes affecting physical development. Early detection not only facilitates informed decision-making but also enhances the management of conditions that could impact the baby’s health.

“Early detection of conditions like gestational diabetes and preeclampsia,” Dr Ajmal says, “is pivotal for optimising prenatal care and maternal outcomes.” Screening for gestational diabetes, typically done between 24 to 28 weeks, enables timely interventions such as dietary adjustments and blood glucose monitoring, reducing risks associated with the condition. Similarly, identifying preeclampsia early allows for vigilant monitoring and management strategies to mitigate complications like preterm birth and organ damage in expectant mothers.

Looking beyond pregnancy, Dr Ajmal highlights another critical test — newborn screening. “Conducted within 48 hours of birth,” she explains, “Newborn screening identifies over 50 genetic conditions that may not be apparent at birth.” These conditions, categorised into metabolic, endocrine, and hemoglobinopathies, include serious disorders like cystic fibrosis that could impact a child’s long-term health. Early screening facilitates prompt medical intervention, potentially preventing severe health complications later in life.

Understanding endometriosis

Endometriosis stands as a formidable yet often misunderstood issue, impacting millions. At Burjeel Medical City’s IFEM Endo Middle East Clinic, Professor Horace Roman, an Endometriosis Surgeon and Founding Member, IFEM Endo, talks about the complexities of this chronic gynaecological condition with a focus on improving diagnostic accuracy.

“Endometriosis,” explains Prof. Roman, “is a chronic disease affecting 5-10 per cent of women aged 15-50 years.” Characterised by the presence of endometrial-like tissue outside the uterus, it manifests with debilitating symptoms such as severe pelvic pain, infertility, and profound disruptions to daily life.

Addressing the challenge of diagnosis, Prof. Roman advocates for enhanced methods. “Diagnosis often faces significant delays, averaging 7-10 years,” he notes. “However, recent advancements like the salivary test utilising micro-RNA algorithms hold promise in expediting detection.” This innovative approach aims to shorten diagnostic timelines and improve early intervention strategies, crucial for managing symptoms and preserving fertility.

Infertility remains a poignant issue for many women with endometriosis. “Assisted reproductive techniques,” Prof. Roman observes, “are frequently employed but may exacerbate endometriosis progression.” Instead, he advocates for surgical intervention tailored to address the underlying endometriotic lesions, offering a more sustainable path to conception and improved reproductive health.

Established in 2023, the IFEM Endo Middle East Clinic at Burjeel Medical City represents a beacon of specialised care for endometriosis across the UAE and the Middle East. “Our clinic,” Prof. Roman affirms, “brings together international experts in a multidisciplinary approach to endometriosis management.” This collaborative effort ensures comprehensive care, including advanced laparoscopic and robotic surgeries.

“We have achieved significant success,” Prof. Roman states, “with complete excision surgeries yielding favourable outcomes and high patient satisfaction.” Today, IFEM Endo Middle East Clinic continues to redefine standards in endometriosis management, offering hope and relief to women grappling with this challenging condition.