Prenatal Screening
Genetic
Counselling
COMPREHENSIVE GENETIC SCREENING, TESTING, COUNSELLING, AND SPECIALIST GENETIC CONSULTATION SERVICES ARE AVAILABLE AT THE PRACTICE.
3% of babies are born with a congenital disorder or “birth defect”. Many of these conditions have an underlying genetic cause or contribution. Consultation with a genetic counsellor or medical geneticist can provide you with more information about the diagnosis, its cause, the inheritance pattern, recurrence risk, further investigations, and available management options during and after your pregnancy.
What is a medical geneticist?
A medical geneticist, or clinical geneticist, is a medical doctor who specialises in the diagnosis, investigation, and management of genetic or hereditary conditions presenting throughout every stage of life. Medical Geneticists may consult with women or couples before, during or after their pregnancy, and with newborns, children, and adults who either have or are at risk of a genetic condition or syndrome. In the prenatal setting, a medical geneticist will assist with the diagnosis, investigation, and interpretation of genetic testing results within the context of your personal history, family history, findings on prenatal ultrasound and examination of your baby following delivery.
What is a genetic counsellor?
A genetic counsellor is a health care professional who works as part of a multidisciplinary team in assisting to diagnose, manage, predict and screen for genetic conditions. They do this by taking and analyzing family history information, assessing the risks of inheriting or passing on a medical condition, ordering and interpreting genetic test results and explaining these to the individual patient and their relatives. Being well-versed in genetic aspects of medical conditions, a genetic counsellor provides information to those who are at an increased risk of either having an inherited disorder or of passing it on to their children. A genetic counsellor provides information on the inheritance and recurrence risks of disorders; addresses the concerns of patients, their families, and their health care providers; and supports patients and their families dealing with these disorders.
During pregnancy, patients are referred to a genetic counsellor if their baby is found to have a potential birth defect or genetic condition. A genetic counselor helps expecting parents to understand the medical information, what to expect, how to prepare and the options available to them. They also facilitate the genetic testing process from deciding on the most appropriate and cost-effective testing to the result delivery and post-result delivery counselling if needed.
- Carrier Screening
- Non-invasive prenatal screening (NIPS/NIPT)
- Chromosome Analysis
- Chromosomal Microarray
- Understand their risk for having a child with a common genetic disorder such as Down Syndrome.
- Navigate through the uncertainty and available genetic testing should there be a known/suspected genetic condition in the family.
- Understand how their genetic makeup could possibly play a role in infertility and pregnancy loss.
- Decide if genetic testing for any of the above-mentioned are appropriate for them and guide them through the testing process.
- Understand their risk of having a child with a recessive condition (such as Cystic Fibrosis, Spinal Muscular Atrophy and Tay-Sachs disease) or X-Linked condition (such as Duchenne Muscular Dystrophy, Fragile X and Hemophilia) and offering carrier screening for the parents.
- Increased risk for having a child with a chromosomal or genetic condition e.g.
- you are a woman older than 35 years.
- you are a man older than 40 years.
- you screened high risk on serum screening or prenatal ultrasound.
- Fetal anomaly or multiple fetal anomalies were detected on prenatal ultrasound.
- Abnormal result on non-invasive prenatal screening (NIPS/NIPT).
- Abnormal result on invasive prenatal testing (chorionic villus sampling or amniocentesis).
- Family history of a known or suspected genetic condition.
- Previous pregnancy or child affected by a fetal anomaly or genetic condition.
- Multiple unexplained miscarriages or stillbirths.
- Exposure to an illness, infection or medicine during pregnancy which may be harmful to your unborn baby.
Session Genetic Team
Geneticist & Genetic Counsellor
Geneticist
MBChB Cum Laude, MMed (Medical Genetics) cum laude, FCMG (SA), DCH (SA), Dip HIV Man (SA)
Dr Liani Smit
Dr Liani grew up in Cape Town where she knew from an early age that she would pursue a career in medicine. She graduated as a top 20 matriculant in the Western Cape and at the top of her class in medical school, obtaining a Bachelor’s degree in Medicine and Surgery cum laude from the University of Stellenbosch. She received several accolades at graduation, including the Faculty of Health Sciences’ Medal for Academic Excellence and the Rector’s Award for Excellent Achievement in Academics.
Before pursuing a career in medical genetics Dr Liani worked for several years in a variety of medical fields gaining additional clinical experience and postgraduate diplomas in Child Health and in HIV Management from the Colleges of Medicine of South Africa.
In 2020 Dr Liani completed the 4-year registrar training programme in medical genetics at Tygerberg Hospital. She received a Master of Medicine degree in Medical Genetics cum laude from Stellenbosch University and was admitted as a Fellow of the College of Medical Genetics of South Africa in the same year. She has attended international training courses of the European Society of Human Genetics, the Wellcome Genome Campus (UK), and presented her research in genetics at both local and international conferences.
Dr Liani consults both in private practice and as a sessional medical geneticist in the prenatal fetal medicine clinic and paediatric genetic clinic at Tygerberg Hospital. She remains involved in the training of postgraduate students and registrars, outreach activities to regional hospitals, and departmental research.
Dr Liani strives to help patients navigate the uncertainty and complexity of known or suspected genetic conditions and congenital disorders, with accurate information, compassion, and support.
Email: info@geneticdoctor.co.za
Phone: 060 436 1638
Website: www.geneticdoctor.co.za
Facebook: www.facebook.com/geneticdoctor
Instagram: www.instagram.com/geneticdoctor_za
Maxine du Toit
Maxine is a Genetic Counsellor with a special love for prenatal- and cancer genetics. She received her Master’s degree in Genetic Counselling in 2019 from the University of Cape Town. During 2018 and 2019 she completed her internship training at Groote Schuur Hospital, Red Cross Children’s Hospital and Tygerberg Hospital. Maxine’s undergraduate studies and Honours degree in the field of Psychology were completed and received with distinction through the University of South Africa in 2013 and 2015 respectively.
Her interest in the field of Genetic Counselling started long before she knew there was such a career path. She has always been interested in the lived-experiences of people confronted with life-impacting medical and psychological conditions.
A person’s unique situation requires unique understanding, support, and decision-making. As genetic counsellor, Maxine absolutely loves empowering her patients to make decisions in the context of their unique genetic situation.
As a mother herself, she has a great love for working with expectant parents in the prenatal context.
She therefore thoroughly enjoys her role at Prenatal Screening in helping anxious parents make informed choices regarding available prenatal genetic testing and decision-making in the context of what the potential genetic result could be.
In addition to her private practice, Maxine works part-time for Pathcare Laboratories as Genetics Application Consultant where she liaises with referring doctors regarding appropriate genetic testing for patients both locally and internationally.
Practice no.: 0913162
Email: maxinedutoit@gmail.com
Phone: 082 546 8551
Genetic Counsellor
MSc (Med) UCT
Dr Liani Smit
Geneticist MBChB cum laude, MMed (Medical Genetics) cum laude, FCMG (SA), DCH (SA), Dip HIV Man (SA)