Prenatal genetic testing: Navigate your pregnancy journey with clarity

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

Discussing the contrasting effects of traditional methods with the latest Non-Invasive Prenatal Test (NIPT), Dr Jadhav explains that traditional screenings such as dual and triple marker tests assess chromosomal abnormalities but have a false positive rate of 5 %. “These tests, performed at various stages of pregnancy, require invasive follow-up such as chorionic villus sampling (CVS) or amniocentesis for definitive diagnoses, albeit with associated risks,” she says.

Highlighting NIPT as a game changer, Dr Jadhav elaborates, “NIPT examines fetal 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 insight into fetal sex and rare genetic conditions, minimizing unnecessary invasive procedures for high-risk pregnancies.

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

In counseling expectant parents, Dr Jadhav emphasized the importance of making informed decisions in line with personal beliefs and values. “Prenatal testing provides valuable insight 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 emphasizes the nuanced nature of these choices, acknowledging, “Some parents choose early knowledge of genetic conditions to adequately prepare, while others prefer to wait until their child is born for such information. ” Dr Jadhav draws attention to the importance of individual preferences in navigating the complexities of prenatal care, emphasizing that every decision is valid and deeply personal.

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,” explains Dr Ajmal, “a battery of tests provides full monitoring of maternal and fetal health.” From blood tests that assess blood counts, immunity to infections such as rubella and HIV, to thyroid function and glucose level checks, these tests aim to detect potential problems early. Urine tests play a key role in identifying urinary tract infections and other abnormalities, while ultrasound examinations such as dating ultrasound and nuchal translucency examination confirm gestational age and check for chromosomal abnormalities such as Down syndrome.

Moving on to fetal health, Dr Ajmal highlights the importance of ultrasound scans in early detection. “Ultrasound scans,” she notes, “can detect fetal abnormalities as early as 11 to 14 weeks.” These scans, including nuchal translucency scan and mid-pregnancy scan (done around 18 to 20 weeks), identify structural abnormalities such as neural tube defects, cardiac abnormalities, and genetic syndromes that affect physical development. Early detection not only facilitates informed decision-making, but also improves the management of conditions that may affect the health of the baby.

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

Looking beyond pregnancy, Dr Ajmal highlights another critical test – newborn screening. “Performed within 48 hours of birth,” she explains, “newborn screening identifies over 50 genetic conditions that may not be apparent at birth.” These conditions, categorized into metabolic, endocrine and hemoglobinopathies, include serious disorders such as cystic fibrosis that can affect the child’s long-term health. Early screening facilitates prompt medical intervention, potentially preventing serious health complications later in life.

Endometriosis remains a frightening but often misunderstood issue, affecting millions of people. 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 gynecological condition with a focus on improving diagnostic accuracy.

“Endometriosis,” explains Prof. Roman, “is a chronic disease that affects 5-10 percent of women aged 15-50.” Characterized by the presence of endometrium-like tissue outside the uterus, it manifests with debilitating symptoms such as severe pelvic pain, infertility and profound disruptions in daily life.

Addressing the challenge of diagnosis, Prof. Roman advocates for extended methods. “Diagnosis often faces significant delays, averaging 7-10 years,” he notes. “However, recent advances such as the saliva test using micro-RNA algorithms promise to speed up detection.” This innovative approach aims to shorten diagnostic timelines and improve early intervention strategies, essential for symptom management and fertility preservation.

Infertility remains a touchy issue for many women with endometriosis. “Assisted reproductive techniques,” notes Prof. Roman, “are often used, but can worsen the progression of endometriosis.” Instead, it advocates tailored surgical intervention to treat underlying endometriotic lesions, offering a more sustainable path to conception and improved reproductive health.

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

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