Obstetrics, Gynaecology and Fetal Genetics Services

In Gynaecology, genetic testing may be recommended when there may be an underlying inherited cause for:

• Early menopause (before age 40)
  
• Recurrent pregnancy loss
  
• Gynaecological cancers, such as endometrial or ovarian cancer
  
• Male infertility
  

Couples planning to conceive may also consider carrier screening, which helps identify whether they carry gene changes that could affect their future children.

For those undergoing IVF, pre‑implantation genetic testing (PGT) may be offered. PGT allows embryos to be tested for selected genetic or chromosomal conditions before they are transferred.

Pre-conception Genetic screening 

Carrier screening and preconception genetic testing check whether you carry inherited changes in genes that could cause certain genetic conditions in a child.

These tests are offered to healthy people planning pregnancy and to those with fertility concerns to help assess the chance of having a child with a genetic condition, guide reproductive options, and inform fertility or prenatal care.

Results may show you are not a carrier, or that you are a carrier for a specific condition (which may lead to partner testing), or that further testing is needed. If a risk is found, you will be offered counseling to explain the implications and available options, such as IVF with embryo testing, donor gametes, prenatal testing, or preparing for a child’s needs.

Genetic Testing During Pregnancy

Genetic testing during pregnancy can be divided into screening tests and diagnostic tests.

Screening Tests

Offered to all pregnant individuals, these tests estimate the chance of certain chromosomal conditions (such as Down syndrome). Screening usually involves:

• Ultrasound
  
• A blood test from the mother
  

Diagnostic Tests

More detailed diagnostic testing may be offered if:

• A screening test shows the baby may have a higher risk of a genetic condition
  
• An ultrasound shows a structural difference in the baby
  
• A previous pregnancy or family member has a genetic condition that could be inherited
  

Diagnostic tests include amniocentesis or chorionic villus sampling (CVS), which obtain amniotic fluid or placental tissue. These procedures are performed by trained specialists under local anaesthesia.

Following a pregnancy loss after 24 weeks (stillbirth), some couples may choose to test the baby’s DNA (from the umbilical cord) to understand if there was a genetic cause.

Genetic testing may:

• Provide clarity on whether your condition has a genetic cause
  
• Help your care team tailor your treatment and follow‑up
  
• Guide decisions about future pregnancies
  
• Reduce the chance of having a child affected by serious genetic conditions (through carrier screening or PGT)
  
• Offer information about your baby during pregnancy
• Support your family through personalised counselling and planning

You may be referred to our Women’s Health or Fetal Medicine services if you:

• Have any of the gynaecological or pregnancy‑related conditions listed above
  
• Need genetic testing during pregnancy
  
• Wish to undergo genetic evaluation following pregnancy loss
  
• Are planning for pregnancy and want to explore pre‑conception screening
  

Couples needing genetic testing during pregnancy or after a pregnancy loss will be seen at the Fetal Medicine Clinic.

If your doctor thinks genetic testing could benefit you, you will be referred to our team. After referral:

1. Initial consultation: You will meet a specialist relevant to your situation.
   
2. Geneticist referral: If needed, you will also see a geneticist to discuss testing options.
   
3. Pregnancy‑related testing: If testing is required during pregnancy or after pregnancy loss, you will be seen at the Fetal Medicine Clinic.

Your healthcare team will recommend the most suitable test depending on your needs.

Testing may involve:

• A blood sample from you, your partner, or a family member
  
• Invasive diagnostic procedures (CVS or amniocentesis) during pregnancy, performed under local anaesthesia
  

Samples may be tested for:

• Chromosomal number and structure
  
• Gene‑level changes (“instructions” that guide how the body develops and functions)

Dr Karen Lim
Consultant

Adj A/Prof Chin Hui-Lin
Senior Consultant

A/Prof Denise Goh
Senior Consultant

Shreya S Shetty
Genetic Counsellor

Women’s Clinic – Emerald/Ruby

Fetal Medicine Clinic

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