A One-Stop Genetic Counselling Service for Pregnancy and Pre-conception

3/22/2024 1:50:00 PM | Defining Med

The article is contributed/written by Singapore General Hospital

THE PRENATAL AND REPRODUCTIVE GENETICS CLINIC @ SGH O&G

The Prenatal and Reproductive Genetics Clinic is a weekly clinic at the Singapore General Hospital Obstetrics & Gynaecology Centre. It is run jointly by a maternal-foetal medicine specialist with training in perinatal genetics, as well as a senior genetic counsellor.

This collaborative set-up expedites and improves care by giving patients the opportunity to receive counselling from both an obstetric as well as a genetic counselling perspective in one session.

OUR SERVICES AND WHO GPs CAN REFER

We welcome referrals for the following groups of pregnant patients and those preparing for pregnancy:

1.	Previously affected pregnancy or child	Patients at higher risk of having a pregnancy affected by a genetic condition include those with a past history of an affected child, or a personal or family history of a genetic condition, intellectual disability or birth defect. They may be referred for discussion on recurrence risk and options for further testing.
2.	Consanguinity
3.	Family or personal history of genetic disorder or birth defect
4.	Preimplantation genetic testing (PGT)	Patients at risk of having a child with certain genetic conditions may be eligible for PGT. They may be referred for counselling to understand the risk of an affected child and the PGT process.
5.	Pre-pregnancy carrier screening	Carrier screening is a valuable tool in family planning as it allows patients to determine if they carry genetic mutations that can increase the risk of having a child with an autosomal recessive or X-linked genetic condition. It is common to be a carrier for at least one condition, and most carriers are healthy with no personal or family history. As an example, the carrier frequency for spinal muscular atrophy in the general population is estimated to be between 1 out of 40 to 60. The results from the carrier screening will enable patients at risk to explore their reproductive options and make informed decisions on prenatal or infant diagnostic testing.
6.	Screening for chromosomal conditions during pregnancy	There are various options for screening and diagnostic testing during pregnancy to determine the risk of a pregnancy being affected by chromosomal and genetic conditions. These include first trimester screening, cell-free DNA screening, ultrasound scans and invasive testing. Genetic counselling allows the couple to select a testing strategy that best aligns with their concerns and desired outcomes.
7.	Abnormal screening or diagnostic testing results	Patients with abnormal screening, diagnostic testing or ultrasound results may be referred for us to explain the findings and discuss the options for further testing, such as chorionic villus sampling and amniocentesis.
8.	Abnormal ultrasound findings

How GPs Can Refer

For GP referrals, please contact the Prenatal and Reproductive Genetics Clinic at:

PLS-GP Network Team
Tel: 6326 6060
Email: gpnetwork@sgh.com.sg

SGH O&G Centre
Email: ogcentre@sgh.com.sg

Please include a summary of the patient's condition to better help us triage the appointment. Patients are welcome to bring along their partner or other support person for the session.

Our Care Team

Dr Yang Liying
Clinical Lead, Obstetrics, SingHealth Duke-NUS Genomic Medicine Centre;
Consultant, Department of Obstetrics & Gynaecology, Singapore General Hospital;
Division of Surgery & Surgical Oncology, National Cancer Centre Singapore

Dr Yang Liying is a Consultant at the Centre for High-Risk Pregnancy (CHiRP) in the Department of Obstetrics & Gynaecology (O&G), Singapore General Hospital. She received her Master of Medicine in O&G and MRCOG in 2013, Master of Clinical Investigation in 2019 and Master of Science in Medical Genetics in 2021, and has undergone further training in prenatal genetics both locally and abroad in Mount Sinai Hospital, Toronto.

Dr Yang's subspecialty interests are in prenatal and reproductive genetics as well as maternal-foetal medicine, as she believes that pregnancy and the pre-conception period offers the unique opportunity to provide quality care that can influence the long-term health of the family, mother and child.

Ms Lim Jiin Ying
Genetic Counsellor, Genetics Service, KK Women's and Children's Hospital

Ms Lim Jiin Ying received a Bachelor of Science (double degrees in Genetics and Biochemistry and Molecular Biology) and a Masters in Genetic Counselling from the University of Melbourne. She joined the Genetics Service at KK Women's and Children's Hospital as a Genetic Counsellor in 2013.

Ms Lim works closely with families to provide genetic counselling and support. Her clinical interests include prenatal, paediatric, metabolic and genodermatoses. In addition to her clinical role, she has also taken an active interest in research including the genetic basis of rare disorders and genetic counselling processes in next-generation sequencing technology.